Energy in Action by MitoAction Castos https://energy-in-action.castos.com Energy In Action by MitoAction will consist of conversations with patients, families, researchers and thought leaders in the mitochondrial disease communities. These podcasts will give you a glimpse into the lives of families affected by mitochondrial disease and the latest in clinical trials, diagnosis, research and the advancement of therapies. If you would like to be a guest or suggest a topic, please email us at info@mitoaction.org. Wed, 15 Apr 2026 17:00:00 +0000 en © 2021 US https://episodes.castos.com/5ed548a1cb08d7-35811046/images/podcast/covers/c1a-0q12-jpjmr26rfvzr-vvq8yj.png Energy in Action by MitoAction https://energy-in-action.castos.com Energy In Action by MitoAction will consist of conversations with patients, families, researchers and thought leaders in the mitochondrial disease communities. These podcasts will give you a glimpse into the lives of families affected by mitochondrial disease and the latest in clinical trials, diagnosis, research and the advancement of therapies. If you would like to be a guest or suggest a topic, please email us at info@mitoaction.org. MitoAction episodic Energy In Action by MitoAction will consist of conversations with patients, families, researchers and thought leaders in the mitochondrial disease communities. These podcasts will give you a glimpse into the lives of families affected by mitochondrial disease and the latest in clinical trials, diagnosis, research and the advancement of therapies. If you would like to be a guest or suggest a topic, please email us at info@mitoaction.org. MitoAction info@mitoaction.org false https://feeds.castos.com/5kro0 yes <![CDATA[Honoring Katie: The Rare Disease Friendships That Change Everything]]> Wed, 15 Apr 2026 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2422151 https://energy-in-action-by-mitoaction.castos.com/episodes/honoring-katie-the-rare-disease-friendships-that-change-everything Stephanie and Tasia return to Energy in Action to honor their beloved friend Katie—a fierce advocate, deep thinker, and unforgettable presence in the rare disease community. Though they never met her in person, Katie became a constant in their lives, offering guidance, humor, and an unshakable commitment to helping others navigate the realities of living with a rare metabolic disorder.

In this deeply emotional conversation, they reflect on the unique bond formed through rare disease, the complexity of grieving someone you never met face-to-face, and the lasting impact Katie had on their lives. They share stories of her relentless self-advocacy, her generosity in supporting others, and the way she found joy and connection despite serious illness. This episode is a powerful reminder of how meaningful these relationships can be—and why they deserve to be honored.

Resources & Ways to Connect

]]> false Stephanie and Tasia return to Energy in Action to honor their beloved friend Katie—a fierce advocate, deep thinker, and unforgettable presence in the rare disease community. Though they never met her in person, Katie became a constant in their lives, offering guidance, humor, and an unshakable commitment to helping others navigate the realities of living with a rare metabolic disorder.

In this deeply emotional conversation, they reflect on the unique bond formed through rare disease, the complexity of grieving someone you never met face-to-face, and the lasting impact Katie had on their lives. They share stories of her relentless self-advocacy, her generosity in supporting others, and the way she found joy and connection despite serious illness. This episode is a powerful reminder of how meaningful these relationships can be—and why they deserve to be honored.

Resources & Ways to Connect

]]> 00:46:36 <![CDATA[Why Mito Care Is Finally Changing]]> Wed, 01 Apr 2026 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2410576 https://energy-in-action-by-mitoaction.castos.com/episodes/why-mito-care-is-finally-changing Dr. Rosanna Sanchez Russo is a biochemical geneticist at Emory University who has dedicated her career to caring for patients with mitochondrial and other rare diseases. In this episode of Energy in Action, she shares the path that led her from growing up in Colombia—where she was first exposed to children with complex medical conditions—to becoming a physician deeply committed to advancing care for some of the most challenging disorders in medicine. She also explains what drew her specifically to mitochondrial disease and why these conditions continue to push both science and clinical care to their limits.

Dr. Sanchez Russo offers a clear look at how mitochondrial care is evolving today, from earlier and more accurate diagnoses to the growing importance of multidisciplinary teams and personalized approaches to treatment. She walks through what families can expect when meeting with a geneticist, how care plans are built, and why nutrition, supplements, and emerging therapies remain areas of both promise and uncertainty. With new clinics, collaborations, and research efforts taking shape, this conversation provides an honest and hopeful perspective on where mitochondrial disease care stands today—and where it may be headed next.

Resources & Ways to Connect

]]> false Dr. Rosanna Sanchez Russo is a biochemical geneticist at Emory University who has dedicated her career to caring for patients with mitochondrial and other rare diseases. In this episode of Energy in Action, she shares the path that led her from growing up in Colombia—where she was first exposed to children with complex medical conditions—to becoming a physician deeply committed to advancing care for some of the most challenging disorders in medicine. She also explains what drew her specifically to mitochondrial disease and why these conditions continue to push both science and clinical care to their limits.

Dr. Sanchez Russo offers a clear look at how mitochondrial care is evolving today, from earlier and more accurate diagnoses to the growing importance of multidisciplinary teams and personalized approaches to treatment. She walks through what families can expect when meeting with a geneticist, how care plans are built, and why nutrition, supplements, and emerging therapies remain areas of both promise and uncertainty. With new clinics, collaborations, and research efforts taking shape, this conversation provides an honest and hopeful perspective on where mitochondrial disease care stands today—and where it may be headed next.

Resources & Ways to Connect

]]> 00:29:19 <![CDATA[How Mighty Matthew Keeps Moving Forward]]> Wed, 18 Mar 2026 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2398333 https://energy-in-action-by-mitoaction.castos.com/episodes/how-mighty-matthew-keeps-moving-forward Matthew Cech has spent his entire life adapting to mitochondrial disease, but his story is about far more than the medical challenges he has faced. In this episode of Energy in Action, he shares his long diagnostic journey, from missed milestones and years of invasive testing to finally receiving a diagnosis of Complex I and III mitochondrial disease. He also opens up about one of the most harrowing chapters of his childhood, when a routine motility study led to sepsis, emergency surgery, a medically induced coma, and a month-long hospital stay that changed everything.

Matthew also talks about living with a G-tube, J-tube, and ileostomy, the emotional reality of growing up unable to eat normally, and how much it meant to be supported by his family, school, medical team, and wider community. He reflects on the accommodations that helped him build a full life, the organizations that gave him extraordinary experiences, and the superhero identity he created for himself as “Mighty Matthew.” This is a powerful conversation about survival, perspective, and what it means to keep finding joy and purpose in a life that has asked so much.

Resources & Ways to Connect

]]> false Matthew Cech has spent his entire life adapting to mitochondrial disease, but his story is about far more than the medical challenges he has faced. In this episode of Energy in Action, he shares his long diagnostic journey, from missed milestones and years of invasive testing to finally receiving a diagnosis of Complex I and III mitochondrial disease. He also opens up about one of the most harrowing chapters of his childhood, when a routine motility study led to sepsis, emergency surgery, a medically induced coma, and a month-long hospital stay that changed everything.

Matthew also talks about living with a G-tube, J-tube, and ileostomy, the emotional reality of growing up unable to eat normally, and how much it meant to be supported by his family, school, medical team, and wider community. He reflects on the accommodations that helped him build a full life, the organizations that gave him extraordinary experiences, and the superhero identity he created for himself as “Mighty Matthew.” This is a powerful conversation about survival, perspective, and what it means to keep finding joy and purpose in a life that has asked so much.

Resources & Ways to Connect

]]> 01:04:33 <![CDATA[Supporting Siblings in Rare Disease Families]]> Wed, 04 Mar 2026 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2381975 https://energy-in-action-by-mitoaction.castos.com/episodes/supporting-siblings-in-rare-disease-families Ryan Mendel is a graduate student in genetic counseling who has already immersed herself in mitochondrial research, clinical care, and rare disease advocacy. In this episode of Energy in Action, host Marcy Young speaks with Ryan about her path from a high school genetics class to working in the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia, where she conducted large-scale drug screening research and presented findings at national conferences. Ryan shares what it was like to witness both the lab side and the clinic side of mitochondrial disease—and how that dual perspective shaped her commitment to patient-centered care.

Now completing her master’s degree in genetic counseling, Ryan is focusing her thesis on an often-overlooked group in rare disease families: unaffected siblings. She discusses how pediatric genetic diagnoses impact siblings emotionally, socially, and long-term—from feeling pressure to overachieve, to becoming young caregivers, to quietly carrying fear and uncertainty. Ryan explains her goal of creating practical, family-centered resources that genetic counselors can use to better support siblings from the very beginning. This conversation offers hope for the future of rare disease care and highlights the importance of treating the whole family—not just the diagnosis.

Resources and Ways to Connect

 Visit MitoAction’s Website – https://www.mitoaction.org
 Follow on Facebook – https://www.facebook.com/mitoaction
 Follow on X (Twitter) – https://twitter.com/mitoaction
 Follow on Instagram – https://www.instagram.com/mitoaction
 Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Ryan Mendel is a graduate student in genetic counseling who has already immersed herself in mitochondrial research, clinical care, and rare disease advocacy. In this episode of Energy in Action, host Marcy Young speaks with Ryan about her path from a high school genetics class to working in the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia, where she conducted large-scale drug screening research and presented findings at national conferences. Ryan shares what it was like to witness both the lab side and the clinic side of mitochondrial disease—and how that dual perspective shaped her commitment to patient-centered care.

Now completing her master’s degree in genetic counseling, Ryan is focusing her thesis on an often-overlooked group in rare disease families: unaffected siblings. She discusses how pediatric genetic diagnoses impact siblings emotionally, socially, and long-term—from feeling pressure to overachieve, to becoming young caregivers, to quietly carrying fear and uncertainty. Ryan explains her goal of creating practical, family-centered resources that genetic counselors can use to better support siblings from the very beginning. This conversation offers hope for the future of rare disease care and highlights the importance of treating the whole family—not just the diagnosis.

Resources and Ways to Connect

 Visit MitoAction’s Website – https://www.mitoaction.org
 Follow on Facebook – https://www.facebook.com/mitoaction
 Follow on X (Twitter) – https://twitter.com/mitoaction
 Follow on Instagram – https://www.instagram.com/mitoaction
 Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:34:41 <![CDATA[Fighting for Approval and Winning]]> Wed, 18 Feb 2026 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2365822 https://energy-in-action-by-mitoaction.castos.com/episodes/fighting-for-approval-and-winning Walker, Madison, and Jordan are three relentless advocates whose determination helped push a life-changing therapy for Barth syndrome across the finish line. In this episode of Energy in Action, host Marcy Young sits down with them to unpack the deeply personal journeys that led each of them into advocacy—from living decades with debilitating symptoms, to fighting for newborn sons in heart failure, to honoring loved ones lost too soon.

They share how grassroots organizing, congressional outreach, social media campaigns, and powerful patient testimony helped turn a devastating FDA denial into an eventual approval for elamipretide. Along the way, they reveal what it felt like to count remaining medication vials, stand outside the White House with photos of their children, and finally hear the words they had fought so hard for. Their stories are raw, hopeful, and fiercely determined—and they show exactly what can happen when rare disease families refuse to give up, not just for themselves, but for everyone still waiting for a chance.

Resources and Ways to Connect:
 Visit MitoAction’s Website – https://www.mitoaction.org
 Follow on Facebook – https://www.facebook.com/mitoaction
 Follow on X (Twitter) – https://twitter.com/mitoaction
 Follow on Instagram – https://www.instagram.com/mitoaction
 Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Walker, Madison, and Jordan are three relentless advocates whose determination helped push a life-changing therapy for Barth syndrome across the finish line. In this episode of Energy in Action, host Marcy Young sits down with them to unpack the deeply personal journeys that led each of them into advocacy—from living decades with debilitating symptoms, to fighting for newborn sons in heart failure, to honoring loved ones lost too soon.

They share how grassroots organizing, congressional outreach, social media campaigns, and powerful patient testimony helped turn a devastating FDA denial into an eventual approval for elamipretide. Along the way, they reveal what it felt like to count remaining medication vials, stand outside the White House with photos of their children, and finally hear the words they had fought so hard for. Their stories are raw, hopeful, and fiercely determined—and they show exactly what can happen when rare disease families refuse to give up, not just for themselves, but for everyone still waiting for a chance.

Resources and Ways to Connect:
 Visit MitoAction’s Website – https://www.mitoaction.org
 Follow on Facebook – https://www.facebook.com/mitoaction
 Follow on X (Twitter) – https://twitter.com/mitoaction
 Follow on Instagram – https://www.instagram.com/mitoaction
 Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 01:01:35 <![CDATA[Hope for FAOD Patients Through Research]]> Wed, 04 Feb 2026 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2347260 https://energy-in-action-by-mitoaction.castos.com/episodes/hope-for-faod-patients-through-research Dr. Melanie Gillingham is a professor of molecular and medical genetics at Oregon Health & Science University and one of the leading researchers in fatty acid oxidation disorders (FAODs). In this episode of Energy in Action, host Marcy Young speaks with Dr. Gillingham about the journey that led her from clinical dietetics into FAOD research, the impact of meeting one young patient with LCHAD early in her training, and the deeply personal connection she maintains with families affected by these rare diseases.

They discuss the results of a five-year natural history study on LCHAD retinopathy, why puberty may be a turning point in vision decline, and how new preclinical models—from iPSC-derived retinal cells to animal studies—are driving progress toward future treatments. Dr. Gillingham also explains why nutrition research is still so limited in mitochondrial disease, how new advances in precision nutrition might change that, and what’s next in her ambitious plan to launch a national FAOD Consortium. From patient-inspired breakthroughs to surprise stories of regained mobility, this episode is a powerful reminder that real hope is rooted in rigorous science—and in the people who never stop asking what’s possible.

Learn More About MitoAction:
 Visit MitoAction’s Website – https://www.mitoaction.org
 Follow on Facebook – https://www.facebook.com/mitoaction
 Follow on X (Twitter) – https://twitter.com/mitoaction
 Follow on Instagram – https://www.instagram.com/mitoaction
 Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Dr. Melanie Gillingham is a professor of molecular and medical genetics at Oregon Health & Science University and one of the leading researchers in fatty acid oxidation disorders (FAODs). In this episode of Energy in Action, host Marcy Young speaks with Dr. Gillingham about the journey that led her from clinical dietetics into FAOD research, the impact of meeting one young patient with LCHAD early in her training, and the deeply personal connection she maintains with families affected by these rare diseases.

They discuss the results of a five-year natural history study on LCHAD retinopathy, why puberty may be a turning point in vision decline, and how new preclinical models—from iPSC-derived retinal cells to animal studies—are driving progress toward future treatments. Dr. Gillingham also explains why nutrition research is still so limited in mitochondrial disease, how new advances in precision nutrition might change that, and what’s next in her ambitious plan to launch a national FAOD Consortium. From patient-inspired breakthroughs to surprise stories of regained mobility, this episode is a powerful reminder that real hope is rooted in rigorous science—and in the people who never stop asking what’s possible.

Learn More About MitoAction:
 Visit MitoAction’s Website – https://www.mitoaction.org
 Follow on Facebook – https://www.facebook.com/mitoaction
 Follow on X (Twitter) – https://twitter.com/mitoaction
 Follow on Instagram – https://www.instagram.com/mitoaction
 Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:30:12 <![CDATA[What PFDD Meetings Mean for the Mito Community]]> Wed, 21 Jan 2026 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2329613 https://energy-in-action-by-mitoaction.castos.com/episodes/what-pfdd-meetings-mean-for-the-mito-community

Patient-Focused Drug Development (PFDD) meetings are one of the most powerful advocacy tools available to rare disease communities—but most patients have never heard of them. In this episode of Energy in Action, host Marcy Young sits down with industry expert Marina Kolocha to unpack what PFDD meetings are, why they matter, and how they can help drive real progress in mitochondrial disease research and treatment.

Marina shares insights from her experience moderating over 40 PFDD meetings and breaks down the goals, structure, and long-term impact of these events. Together, they discuss the first-ever PFDD meeting focused on MILAS, scheduled for February 10, 2026, and how patients and caregivers can participate. From voicing daily challenges to shaping future drug development, this conversation offers a rare behind-the-scenes look at a process designed to amplify patient stories at the highest level.

Resources and Ways to Connect
Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false

Patient-Focused Drug Development (PFDD) meetings are one of the most powerful advocacy tools available to rare disease communities—but most patients have never heard of them. In this episode of Energy in Action, host Marcy Young sits down with industry expert Marina Kolocha to unpack what PFDD meetings are, why they matter, and how they can help drive real progress in mitochondrial disease research and treatment.

Marina shares insights from her experience moderating over 40 PFDD meetings and breaks down the goals, structure, and long-term impact of these events. Together, they discuss the first-ever PFDD meeting focused on MILAS, scheduled for February 10, 2026, and how patients and caregivers can participate. From voicing daily challenges to shaping future drug development, this conversation offers a rare behind-the-scenes look at a process designed to amplify patient stories at the highest level.

Resources and Ways to Connect
Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:29:48 <![CDATA[Creativity and Community: MitoArtisans in Action]]> Wed, 07 Jan 2026 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2316024 https://energy-in-action-by-mitoaction.castos.com/episodes/creativity-and-community-mitoartisans-in-action Stephanie Harry and Christine Knox are two powerhouse voices in the mitochondrial disease community, using art as a tool for healing, connection, and empowerment. In this episode of Energy in Action, host Marcy Young sits down with Stephanie and Christine to explore how creative expression can support mental health, build confidence, and foster resilience through all stages of the mito journey. Whether it’s pencil drawings, music, poetry, or pottery, both women emphasize the importance of play, experimentation, and community in living fully with mito.

Stephanie, MitoAction’s Patient Support Coordinator, and Christine, an artist and long-time community leader, share how their own experiences with mitochondrial disease and caregiving shaped their passion for art—and how that passion sparked two of MitoAction’s most beloved creative programs: MitoArtisans Playtime and the annual MitoArt Show. They discuss what these spaces offer for patients of all ages and abilities, why creativity belongs in everyone’s toolbox, and how you can get involved—whether as an artist, observer, or simply someone looking to reconnect with themselves.

Resources and Ways to Connect
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Stephanie Harry and Christine Knox are two powerhouse voices in the mitochondrial disease community, using art as a tool for healing, connection, and empowerment. In this episode of Energy in Action, host Marcy Young sits down with Stephanie and Christine to explore how creative expression can support mental health, build confidence, and foster resilience through all stages of the mito journey. Whether it’s pencil drawings, music, poetry, or pottery, both women emphasize the importance of play, experimentation, and community in living fully with mito.

Stephanie, MitoAction’s Patient Support Coordinator, and Christine, an artist and long-time community leader, share how their own experiences with mitochondrial disease and caregiving shaped their passion for art—and how that passion sparked two of MitoAction’s most beloved creative programs: MitoArtisans Playtime and the annual MitoArt Show. They discuss what these spaces offer for patients of all ages and abilities, why creativity belongs in everyone’s toolbox, and how you can get involved—whether as an artist, observer, or simply someone looking to reconnect with themselves.

Resources and Ways to Connect
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:40:58 <![CDATA[Inside MitoAction: Support, Advocacy, and a Community That Cares]]> Wed, 17 Dec 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2290937 https://energy-in-action-by-mitoaction.castos.com/episodes/inside-mitoaction-support-advocacy-and-a-community-that-cares As we kick off a new year, Marcy sits down with Kira Mann and Stephanie Harry to explore the many ways MitoAction supports the mitochondrial disease community. From programs that provide diagnostic guidance and one-on-one support, to creative outlets like art shows and local walks, Kira and Stephanie break down everything MitoAction has to offer — and how you can get involved. Their passion, warmth, and deep knowledge of the challenges patients face shine through in this informative and inspiring conversation.

Kira, MitoAction’s CEO, and Stephanie, a longtime patient advocate and Mito411 coordinator, share updates on new therapies, how MitoAction collaborates with pharmaceutical companies and clinicians, and why patient voices are vital to progress. They also highlight key programs like Wondering Wednesdays with genetic counselor Devin Shuman, monthly support groups, and the growing network of Mito Champions. Whether you’re newly diagnosed, a seasoned patient, a caregiver, or a clinician looking to support your patients more meaningfully, this episode is a roadmap to connection, empowerment, and hope.

Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false As we kick off a new year, Marcy sits down with Kira Mann and Stephanie Harry to explore the many ways MitoAction supports the mitochondrial disease community. From programs that provide diagnostic guidance and one-on-one support, to creative outlets like art shows and local walks, Kira and Stephanie break down everything MitoAction has to offer — and how you can get involved. Their passion, warmth, and deep knowledge of the challenges patients face shine through in this informative and inspiring conversation.

Kira, MitoAction’s CEO, and Stephanie, a longtime patient advocate and Mito411 coordinator, share updates on new therapies, how MitoAction collaborates with pharmaceutical companies and clinicians, and why patient voices are vital to progress. They also highlight key programs like Wondering Wednesdays with genetic counselor Devin Shuman, monthly support groups, and the growing network of Mito Champions. Whether you’re newly diagnosed, a seasoned patient, a caregiver, or a clinician looking to support your patients more meaningfully, this episode is a roadmap to connection, empowerment, and hope.

Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:48:42 <![CDATA[Mindset, Mito, and the Power of Positivity]]> Wed, 03 Dec 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2265907 https://energy-in-action-by-mitoaction.castos.com/episodes/mindset-mito-and-the-power-of-positivity Greg Conway was diagnosed with CPEO-plus more than 20 years ago, but his outlook on life—and on mitochondrial disease—is anything but typical. In this uplifting episode of Energy in Action, host Marcy Young speaks with Greg about how mito has impacted his vision, how it shaped his diagnostic journey, and how he stays mentally and physically strong through mindset shifts, daily exercise, and community connection.

Greg reflects on what it was like getting diagnosed in his 30s, the fear and uncertainty that followed, and the slow process of learning how to live with the disease. He shares the mental health tools that keep him going, why he never gave up biking to work, and how MitoAction support groups have helped him find kinship with others on a similar path. Along the way, Greg opens up about the emotional weight of parenting, the invisible challenges of eye-related symptoms, and what he's learned about resilience—from himself and others.

Resources and Ways to Connect

Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Greg Conway was diagnosed with CPEO-plus more than 20 years ago, but his outlook on life—and on mitochondrial disease—is anything but typical. In this uplifting episode of Energy in Action, host Marcy Young speaks with Greg about how mito has impacted his vision, how it shaped his diagnostic journey, and how he stays mentally and physically strong through mindset shifts, daily exercise, and community connection.

Greg reflects on what it was like getting diagnosed in his 30s, the fear and uncertainty that followed, and the slow process of learning how to live with the disease. He shares the mental health tools that keep him going, why he never gave up biking to work, and how MitoAction support groups have helped him find kinship with others on a similar path. Along the way, Greg opens up about the emotional weight of parenting, the invisible challenges of eye-related symptoms, and what he's learned about resilience—from himself and others.

Resources and Ways to Connect

Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:46:26 <![CDATA[Making Nutrition Work for You: Planning Meals with Mito in Mind]]> Wed, 19 Nov 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2229934 https://energy-in-action-by-mitoaction.castos.com/episodes/making-nutrition-work-for-you-planning-meals-with-mito-in-mind Donna DiVito is a registered dietitian at the Children's Hospital of Philadelphia and a returning guest on Energy in Action. In this episode, host Marcy Young welcomes Donna back to answer one of the most common—and exhausting—questions facing people with mitochondrial disease: What’s actually worth the effort when it comes to food?

From grocery shopping and meal prep to what to eat when you have no energy at all, this episode is full of practical, mito-specific nutrition advice. Donna explains how to approach meal planning based on your personal budget, energy levels, and dietary needs, and she shares what to look for in protein bars, the truth about yogurt, and how to make the most of frozen foods. She offers smart swaps, time-saving tips, and thoughtful encouragement to help you feel your best without adding stress.

Resources and Ways to Connect

Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Donna DiVito is a registered dietitian at the Children's Hospital of Philadelphia and a returning guest on Energy in Action. In this episode, host Marcy Young welcomes Donna back to answer one of the most common—and exhausting—questions facing people with mitochondrial disease: What’s actually worth the effort when it comes to food?

From grocery shopping and meal prep to what to eat when you have no energy at all, this episode is full of practical, mito-specific nutrition advice. Donna explains how to approach meal planning based on your personal budget, energy levels, and dietary needs, and she shares what to look for in protein bars, the truth about yogurt, and how to make the most of frozen foods. She offers smart swaps, time-saving tips, and thoughtful encouragement to help you feel your best without adding stress.

Resources and Ways to Connect

Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:57:10 <![CDATA[Parenting with Mito: Talking About the Tough Stuff]]> Wed, 05 Nov 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2185480 https://energy-in-action-by-mitoaction.castos.com/episodes/parenting-with-mito-talking-about-the-tough-stuff For parents living with mitochondrial disease, one of the hardest conversations to navigate is how—and when—to talk to your kids about your diagnosis. In this deeply honest episode of Energy in Action, host Marcy Young speaks with genetic counselor and mito patient Devin Shuman and mito mom and nurse Sam about the emotional complexities, misconceptions, and practical realities of parenting with a rare condition.

Together, they explore the judgment many parents face about their family-building decisions, the evolving medical understanding of inherited disease, and the emotional toll of trying to protect your children while also being truthful. Sam shares her journey parenting five children—four of whom show signs of mitochondrial involvement—and how her oldest daughter’s death and her other daughters’ diagnoses with spinal muscular atrophy have shaped the way her family communicates. Devin brings her dual lens as a patient and professional, reflecting on the ethics of genetic testing, the limits of certainty, and the power of age-appropriate honesty.

Whether you’re a parent wondering when to open up, a caregiver navigating grief and resilience, or someone wrestling with generational fears about genetic disease, this conversation offers insight, solidarity, and space to feel your feelings without shame.

Learn More About MitoAction:
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

 

]]> false For parents living with mitochondrial disease, one of the hardest conversations to navigate is how—and when—to talk to your kids about your diagnosis. In this deeply honest episode of Energy in Action, host Marcy Young speaks with genetic counselor and mito patient Devin Shuman and mito mom and nurse Sam about the emotional complexities, misconceptions, and practical realities of parenting with a rare condition.

Together, they explore the judgment many parents face about their family-building decisions, the evolving medical understanding of inherited disease, and the emotional toll of trying to protect your children while also being truthful. Sam shares her journey parenting five children—four of whom show signs of mitochondrial involvement—and how her oldest daughter’s death and her other daughters’ diagnoses with spinal muscular atrophy have shaped the way her family communicates. Devin brings her dual lens as a patient and professional, reflecting on the ethics of genetic testing, the limits of certainty, and the power of age-appropriate honesty.

Whether you’re a parent wondering when to open up, a caregiver navigating grief and resilience, or someone wrestling with generational fears about genetic disease, this conversation offers insight, solidarity, and space to feel your feelings without shame.

Learn More About MitoAction:
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

 

]]> 00:47:47 <![CDATA[How Rory’s Family Built a Life That Works With LCHAD]]> Wed, 15 Oct 2025 13:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2164767 https://energy-in-action-by-mitoaction.castos.com/episodes/how-rorys-family-built-a-life-that-works-with-lchad In this heartfelt conversation, Marcy sits down with mother-daughter duo Angie and Rory to talk about living with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), a rare fatty acid oxidation disorder. Diagnosed through newborn screening, Rory has grown up navigating the challenges of her condition — from food restrictions to fatigue — with remarkable self-awareness and strength. Angie shares how the family developed “Rory Friendly” meals to make food inclusive, the importance of open communication, and how school support systems and friendships have helped Rory thrive.

The conversation also explores Rory’s deep love of cheerleading, how she's learned to self-advocate, and what it’s been like facing new complications like prolonged QT syndrome. Angie opens up about the complexities of managing care between specialties and the need for better hospital coordination. They also reflect on their experience attending the MitoAction Conference for the first time, the power of peer support, and the role of storytelling in building community. Together, they model the strength, advocacy, and connection that helps families facing rare disease feel less alone.

Resources and Ways to Connect

Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

 

]]> false In this heartfelt conversation, Marcy sits down with mother-daughter duo Angie and Rory to talk about living with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), a rare fatty acid oxidation disorder. Diagnosed through newborn screening, Rory has grown up navigating the challenges of her condition — from food restrictions to fatigue — with remarkable self-awareness and strength. Angie shares how the family developed “Rory Friendly” meals to make food inclusive, the importance of open communication, and how school support systems and friendships have helped Rory thrive.

The conversation also explores Rory’s deep love of cheerleading, how she's learned to self-advocate, and what it’s been like facing new complications like prolonged QT syndrome. Angie opens up about the complexities of managing care between specialties and the need for better hospital coordination. They also reflect on their experience attending the MitoAction Conference for the first time, the power of peer support, and the role of storytelling in building community. Together, they model the strength, advocacy, and connection that helps families facing rare disease feel less alone.

Resources and Ways to Connect

Learn More About MitoAction
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

 

]]> 00:48:56 <![CDATA[After the Diagnosis: Genetic Counseling & the Mito Journey]]> Wed, 01 Oct 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2153529 https://energy-in-action-by-mitoaction.castos.com/episodes/after-the-diagnosis-genetic-counseling-the-mito-journey In this episode, Marcy welcomes returning guest Devin to unpack what happens after the diagnostic odyssey—whether you’ve received a genetic answer or are still in limbo. Devin, a genetic counselor, breaks down what GCs actually do (and how they differ from physicians), why ongoing check-ins matter even years after testing, and how evolving science can change what your results mean. She explains reanalysis, mosaicism, and why new symptoms or improved technology can justify another look.

They also dig into life without a confirmed variant: how to advocate for broader testing, realistic paths to specialty care, the pros/cons of clinical trial eligibility, and why belonging to the mito community can still be validating and useful while you search for answers. Devin shares practical tips for accessing genetic counseling beyond major centers (including telehealth), navigating insurance, and timing reanalysis so it’s most likely to help.

What you’ll hear:

  • Genetic counselors 101: scope, training, and how they complement your care team

  • Why post-result follow-ups matter: updates, trials, family planning, and changing guidance

  • Reanalysis timing, tech improvements, and edge cases like low-level mosaicism

  • Strategies when testing is “negative” or inconclusive—without losing support or momentum

  • Access options outside big clinics, including virtual care and multi-disciplinary programs

Learn More About MitoAction

]]> false In this episode, Marcy welcomes returning guest Devin to unpack what happens after the diagnostic odyssey—whether you’ve received a genetic answer or are still in limbo. Devin, a genetic counselor, breaks down what GCs actually do (and how they differ from physicians), why ongoing check-ins matter even years after testing, and how evolving science can change what your results mean. She explains reanalysis, mosaicism, and why new symptoms or improved technology can justify another look.

They also dig into life without a confirmed variant: how to advocate for broader testing, realistic paths to specialty care, the pros/cons of clinical trial eligibility, and why belonging to the mito community can still be validating and useful while you search for answers. Devin shares practical tips for accessing genetic counseling beyond major centers (including telehealth), navigating insurance, and timing reanalysis so it’s most likely to help.

What you’ll hear:

  • Genetic counselors 101: scope, training, and how they complement your care team

  • Why post-result follow-ups matter: updates, trials, family planning, and changing guidance

  • Reanalysis timing, tech improvements, and edge cases like low-level mosaicism

  • Strategies when testing is “negative” or inconclusive—without losing support or momentum

  • Access options outside big clinics, including virtual care and multi-disciplinary programs

Learn More About MitoAction

]]> 00:38:56 <![CDATA[Hearing Loss, Family, and Hope: A Student’s View on MIDD]]> Wed, 17 Sep 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2141992 https://energy-in-action-by-mitoaction.castos.com/episodes/hearing-loss-family-and-hope-a-students-view-on-midd Duke senior Matt joins host Marcy Young to share how maternally inherited diabetes and deafness (MIDD) has shaped his family—and his path in science. Matt describes the different ways MIDD shows up in his mother and two maternal aunts, from progressive hearing loss to diabetes and vision concerns, and how the pandemic’s masking made communication harder when lip-reading was no longer possible. He walks through their decision to pursue cochlear implants—the screening, surgery, the “switch-on,” and the hard work of relearning sound—and why that main symptom, while jarring to treat, has been life-changing. Matt also explains how his mom’s cochlear-implant work-up at the University of Pennsylvania unexpectedly led to genetic answers for the whole family, while highlighting the access and cost barriers that keep many patients from timely diagnosis.

Beyond his family’s story, Matt talks about the research it inspired: studying mitochondrial biology alongside health policy to understand how hearing loss affects education and employment. He shares why he’s aiming for an MD/PhD to improve care for people like his mom and aunts, and reflects on living with uncertainty as a twin whose generation may or may not develop symptoms. This conversation is candid, thoughtful, and ultimately hopeful—proof that personal experience can fuel better science and kinder systems.

Resources and Ways to Connect

Learn More About MitoAction:
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> false Duke senior Matt joins host Marcy Young to share how maternally inherited diabetes and deafness (MIDD) has shaped his family—and his path in science. Matt describes the different ways MIDD shows up in his mother and two maternal aunts, from progressive hearing loss to diabetes and vision concerns, and how the pandemic’s masking made communication harder when lip-reading was no longer possible. He walks through their decision to pursue cochlear implants—the screening, surgery, the “switch-on,” and the hard work of relearning sound—and why that main symptom, while jarring to treat, has been life-changing. Matt also explains how his mom’s cochlear-implant work-up at the University of Pennsylvania unexpectedly led to genetic answers for the whole family, while highlighting the access and cost barriers that keep many patients from timely diagnosis.

Beyond his family’s story, Matt talks about the research it inspired: studying mitochondrial biology alongside health policy to understand how hearing loss affects education and employment. He shares why he’s aiming for an MD/PhD to improve care for people like his mom and aunts, and reflects on living with uncertainty as a twin whose generation may or may not develop symptoms. This conversation is candid, thoughtful, and ultimately hopeful—proof that personal experience can fuel better science and kinder systems.

Resources and Ways to Connect

Learn More About MitoAction:
Visit MitoAction’s Website – https://www.mitoaction.org
Follow on Facebook – https://www.facebook.com/mitoaction
Follow on X (Twitter) – https://twitter.com/mitoaction
Follow on Instagram – https://www.instagram.com/mitoaction
Connect on LinkedIn – https://www.linkedin.com/company/mitoaction

]]> 00:30:23 <![CDATA[Dogs for Mito Part 3: Life with a Therapy Dog]]> Wed, 20 Aug 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2114714 https://energy-in-action-by-mitoaction.castos.com/episodes/dogs-for-mito-part-3-life-with-a-therapy-dog In this episode of Energy in Action, host Marcy Young talks with mito patient Karen Richtman about the healing power of her therapy dog, Hugo—a gentle, long-legged Labradoodle who became both her companion and her partner in service. Karen shares how living with mitochondrial myopathy shaped her search for a calm, trainable dog; the difference between service dogs (task-trained for one handler) and therapy dogs (owner-trained to comfort others); and how she bonded with Hugo, trained through a formal 12-week class, and earned certification to visit libraries, youth programs, and in-home respite and hospice settings. Karen also explains how she sets boundaries (like masking during COVID surges) and tailors visits around Hugo’s sound sensitivity—opting for quiet spaces, small groups, and kid-led “read to the dog” or scavenger-hunt activities.

At home, Hugo senses Karen’s hard days—sometimes lying gently across her to calm pain and fatigue—and out in the community he “bridges the space” between disability and possibility, giving Karen a way to volunteer sustainably. She recounts a moving hospice visit where Hugo carefully climbed onto a patient’s lap—and later curled beside him in bed—offering simple, unforgettable comfort. If you’ve wondered whether therapy-dog work could fit life with mito, Karen’s story shows how a well-matched dog, thoughtful training, and clear boundaries can create meaningful connection for others while supporting your own well-being.

Learn More About MitoAction

]]> false In this episode of Energy in Action, host Marcy Young talks with mito patient Karen Richtman about the healing power of her therapy dog, Hugo—a gentle, long-legged Labradoodle who became both her companion and her partner in service. Karen shares how living with mitochondrial myopathy shaped her search for a calm, trainable dog; the difference between service dogs (task-trained for one handler) and therapy dogs (owner-trained to comfort others); and how she bonded with Hugo, trained through a formal 12-week class, and earned certification to visit libraries, youth programs, and in-home respite and hospice settings. Karen also explains how she sets boundaries (like masking during COVID surges) and tailors visits around Hugo’s sound sensitivity—opting for quiet spaces, small groups, and kid-led “read to the dog” or scavenger-hunt activities.

At home, Hugo senses Karen’s hard days—sometimes lying gently across her to calm pain and fatigue—and out in the community he “bridges the space” between disability and possibility, giving Karen a way to volunteer sustainably. She recounts a moving hospice visit where Hugo carefully climbed onto a patient’s lap—and later curled beside him in bed—offering simple, unforgettable comfort. If you’ve wondered whether therapy-dog work could fit life with mito, Karen’s story shows how a well-matched dog, thoughtful training, and clear boundaries can create meaningful connection for others while supporting your own well-being.

Learn More About MitoAction

]]> 00:38:30 <![CDATA[Married to Mito]]> Wed, 06 Aug 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2104869 https://energy-in-action-by-mitoaction.castos.com/episodes/married-to-mito In this candid conversation, host Marcy Young welcomes two special guests: her husband, Ira Young, and Leo Gertner, husband of active MitoAction community member Rachel P. They share how their relationships began, the moment mito entered the picture, and what “we’re in this together” looks like over years of marriage, moves, careers, and raising kids. Leo reflects on learning about Rachel’s diagnosis early in their dating and the patience and experimentation that followed; Ira describes walking alongside Marcy through testing and a winding path to answers.

Together they open up about the daily realities—planning around seating and standing, pacing weekends, dividing household and parenting tasks, navigating city vs. suburban life, and making space for rest without guilt. They talk about talking (or not) with friends and family, how kids naturally lean on each parent in different ways, the background hum of uncertainty about the future, and why community support matters. It’s an honest, empathetic look at partnership, caregiving, and choosing gratitude amid a life that isn’t always simple.

Learn More About MitoAction

 

]]> false In this candid conversation, host Marcy Young welcomes two special guests: her husband, Ira Young, and Leo Gertner, husband of active MitoAction community member Rachel P. They share how their relationships began, the moment mito entered the picture, and what “we’re in this together” looks like over years of marriage, moves, careers, and raising kids. Leo reflects on learning about Rachel’s diagnosis early in their dating and the patience and experimentation that followed; Ira describes walking alongside Marcy through testing and a winding path to answers.

Together they open up about the daily realities—planning around seating and standing, pacing weekends, dividing household and parenting tasks, navigating city vs. suburban life, and making space for rest without guilt. They talk about talking (or not) with friends and family, how kids naturally lean on each parent in different ways, the background hum of uncertainty about the future, and why community support matters. It’s an honest, empathetic look at partnership, caregiving, and choosing gratitude amid a life that isn’t always simple.

Learn More About MitoAction

 

]]> 00:56:30 <![CDATA[Raregivers: Turning Caregiver Burnout into Breakthroughs]]> Wed, 16 Jul 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2088914 https://energy-in-action-by-mitoaction.castos.com/episodes/raregivers-turning-caregiver-burnout-into-breakthroups Host Marcy Young sits down with Cristol Barrett O’Loughlin—founder and CEO of RareGivers—for an honest, uplifting conversation about what it really takes to care for someone who is living with a lifelong, often‑progressive illness. Cristol shares her extraordinary back‑story as the youngest of five children, three of whom passed away from Hunter syndrome, and explains how that experience (plus her own battle with breast cancer) inspired her to create RareGivers, a global platform devoted to the emotional well‑being of patients and caregivers. She walks us through the six‑stage RareGivers Emotional Journey Map, why “sight, sound, taste, touch, and smell” matter for daily self‑care, and how partnerships with Microsoft and other tech leaders are translating the program into hundreds of languages. Marcy and Cristol also tackle social‑media burnout, caregiver guilt, and the power of faith, before Cristol reveals the “Hollywood ending” of her parents’ remarriage—60 years after their first wedding. Whether you’re a mitopatient, a busy parent‑caregiver, or a friend who wants to help but isn’t sure how, this episode is packed with practical tools, hard‑won wisdom, and a reminder that tending to your own heart is the first step in showing up for the people you love.Resources & Ways to Connect

Explore RareGivers

Learn More About MitoAction

]]> false Host Marcy Young sits down with Cristol Barrett O’Loughlin—founder and CEO of RareGivers—for an honest, uplifting conversation about what it really takes to care for someone who is living with a lifelong, often‑progressive illness. Cristol shares her extraordinary back‑story as the youngest of five children, three of whom passed away from Hunter syndrome, and explains how that experience (plus her own battle with breast cancer) inspired her to create RareGivers, a global platform devoted to the emotional well‑being of patients and caregivers. She walks us through the six‑stage RareGivers Emotional Journey Map, why “sight, sound, taste, touch, and smell” matter for daily self‑care, and how partnerships with Microsoft and other tech leaders are translating the program into hundreds of languages. Marcy and Cristol also tackle social‑media burnout, caregiver guilt, and the power of faith, before Cristol reveals the “Hollywood ending” of her parents’ remarriage—60 years after their first wedding. Whether you’re a mitopatient, a busy parent‑caregiver, or a friend who wants to help but isn’t sure how, this episode is packed with practical tools, hard‑won wisdom, and a reminder that tending to your own heart is the first step in showing up for the people you love.Resources & Ways to Connect

Explore RareGivers

Learn More About MitoAction

]]> 00:41:33 <![CDATA[Navigating CPEO: Talia’s Search for Answers, Care, and Community]]> Wed, 02 Jul 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2076862 https://energy-in-action-by-mitoaction.castos.com/episodes/navigating-cpeo-talias-search-for-answers-care-and-community Mental-health therapist, mom of two, and newly diagnosed CPEO patient Talia joins host Marcy Young to share the winding, often infuriating path that finally put a name to her drooping eyelids, crushing fatigue, and stubborn back pain. She recounts how a “lazy eye” noted in theater head-shots snowballed into years of misdirection—optometrists, ophthalmologists, a false alarm for myasthenia gravis—before a neurologist labeled her condition but offered no guidance. Together, Marcy and Talia unpack why securing genetic testing, specialty care, and even a simple referral can feel like trench warfare when you have a rare mitochondrial disease.

The conversation ranges from parenting with unpredictable energy, “hundred-thousand-dollar mouths” (severe dental problems common in mito), and ADHD-like brain fog to the science linking chronic stress and adverse childhood experiences (ACEs) with health outcomes—spotlighting Gabor Maté’s When the Body Says No. Committing to radical transparency, Talia vows to chronicle each step of her quest for a mito specialist and a full genetic work-up in future episodes, offering listeners a real-time roadmap for self-advocacy and resilience.

Resources & Links

]]> false Mental-health therapist, mom of two, and newly diagnosed CPEO patient Talia joins host Marcy Young to share the winding, often infuriating path that finally put a name to her drooping eyelids, crushing fatigue, and stubborn back pain. She recounts how a “lazy eye” noted in theater head-shots snowballed into years of misdirection—optometrists, ophthalmologists, a false alarm for myasthenia gravis—before a neurologist labeled her condition but offered no guidance. Together, Marcy and Talia unpack why securing genetic testing, specialty care, and even a simple referral can feel like trench warfare when you have a rare mitochondrial disease.

The conversation ranges from parenting with unpredictable energy, “hundred-thousand-dollar mouths” (severe dental problems common in mito), and ADHD-like brain fog to the science linking chronic stress and adverse childhood experiences (ACEs) with health outcomes—spotlighting Gabor Maté’s When the Body Says No. Committing to radical transparency, Talia vows to chronicle each step of her quest for a mito specialist and a full genetic work-up in future episodes, offering listeners a real-time roadmap for self-advocacy and resilience.

Resources & Links

]]> 00:41:24 <![CDATA[Nutrition Tips for Weak Muscles and Fatigue]]> Wed, 18 Jun 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2066483 https://energy-in-action-by-mitoaction.castos.com/episodes/nutrition-tips-for-weak-muscles-and-fatigue Donna DiVito is a registered dietitian at the Children's Hospital of Philadelphia and one of the few nutrition experts with deep experience in mitochondrial disease. In this episode of Energy in Action, host Marcy Young and Donna explore how diet and meal timing can help patients manage common symptoms like muscle weakness, fatigue, and difficulty swallowing.

They discuss the importance of meeting basic caloric needs, how antioxidants play a crucial role in mitochondrial health, and why adding simple foods like berries and nut butters can make a big difference. Donna explains how nutrition intersects with muscle strength and swallowing issues, how to work with physical and speech therapists, and what to eat during a crash. Whether you’re struggling to get enough protein, manage energy dips, or simply need smarter meal strategies, this conversation offers empowering, practical guidance for daily life with mito.

Resources and Ways to Connect

 Visit MitoAction’s Website
 Follow on Facebook
 Follow on Twitter
 Follow on Instagram
 Connect on LinkedIn

 

]]> false Donna DiVito is a registered dietitian at the Children's Hospital of Philadelphia and one of the few nutrition experts with deep experience in mitochondrial disease. In this episode of Energy in Action, host Marcy Young and Donna explore how diet and meal timing can help patients manage common symptoms like muscle weakness, fatigue, and difficulty swallowing.

They discuss the importance of meeting basic caloric needs, how antioxidants play a crucial role in mitochondrial health, and why adding simple foods like berries and nut butters can make a big difference. Donna explains how nutrition intersects with muscle strength and swallowing issues, how to work with physical and speech therapists, and what to eat during a crash. Whether you’re struggling to get enough protein, manage energy dips, or simply need smarter meal strategies, this conversation offers empowering, practical guidance for daily life with mito.

Resources and Ways to Connect

 Visit MitoAction’s Website
 Follow on Facebook
 Follow on Twitter
 Follow on Instagram
 Connect on LinkedIn

 

]]> 00:34:19 <![CDATA[How Tisento is Advancing Mitochondrial Research]]> Wed, 04 Jun 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2056789 https://energy-in-action-by-mitoaction.castos.com/episodes/how-tisento-is-advancing-mitochondrial-research Chad Glasser is the Senior Director of Clinical Research at Tisento Therapeutics, a company focused entirely on developing treatments for mitochondrial disease. In this episode of Energy in Action, Chad speaks with host Marcy Young about the origins of Tisento, the science behind their lead compound Zagociguat, and why the company’s name—meaning “I hear you” in Italian—reflects their commitment to listening to patients.

They dive into the current PRIZM clinical trial for individuals with MELAS syndrome, including what makes this study unique: home visits, oral medication, and a crossover design that ensures all participants receive the active drug. Chad explains how the team shaped the trial based on patient interviews, and what’s next for the drug development process. For anyone living with mitochondrial disease—or considering participation in clinical research—this conversation offers clarity, hope, and a glimpse into the future of rare disease treatment.

Resources and Ways to Connect

Learn more about the PRIZM Trial:

Stay Connected with MitoAction:

]]> false Chad Glasser is the Senior Director of Clinical Research at Tisento Therapeutics, a company focused entirely on developing treatments for mitochondrial disease. In this episode of Energy in Action, Chad speaks with host Marcy Young about the origins of Tisento, the science behind their lead compound Zagociguat, and why the company’s name—meaning “I hear you” in Italian—reflects their commitment to listening to patients.

They dive into the current PRIZM clinical trial for individuals with MELAS syndrome, including what makes this study unique: home visits, oral medication, and a crossover design that ensures all participants receive the active drug. Chad explains how the team shaped the trial based on patient interviews, and what’s next for the drug development process. For anyone living with mitochondrial disease—or considering participation in clinical research—this conversation offers clarity, hope, and a glimpse into the future of rare disease treatment.

Resources and Ways to Connect

Learn more about the PRIZM Trial:

Stay Connected with MitoAction:

]]> 00:36:21 <![CDATA[The Fight for Educational Rights: What Mito Families Need to Know]]> Wed, 21 May 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2043247 https://energy-in-action-by-mitoaction.castos.com/episodes/the-fight-for-educational-rights-what-mito-families-need-to-know As proposed federal changes stir confusion and anxiety, many parents of children with mitochondrial disease are left wondering what’s next for special education in America. In this urgent and illuminating episode, Marcy Young sits down with Kuna Tavalin, Senior Policy and Advocacy Advisor at the Council for Exceptional Children, to break down what’s actually happening at the U.S. Department of Education—and what’s not.

Kuna explains what the Department of Education is responsible for, what it doesn’t control, and why recent executive orders have sparked panic across the disability community. She offers clear guidance for families navigating IEPs and 504 plans, demystifies enforcement and funding structures, and shares practical ways to advocate for your child right now. With warmth, honesty, and deep policy knowledge, Kuna brings clarity to a complex moment—and reminds us that informed advocacy starts with understanding your rights.

Resources and Ways to Connect

Learn more from the Council for Exceptional Children:

Learn more about MitoAction:

]]> false As proposed federal changes stir confusion and anxiety, many parents of children with mitochondrial disease are left wondering what’s next for special education in America. In this urgent and illuminating episode, Marcy Young sits down with Kuna Tavalin, Senior Policy and Advocacy Advisor at the Council for Exceptional Children, to break down what’s actually happening at the U.S. Department of Education—and what’s not.

Kuna explains what the Department of Education is responsible for, what it doesn’t control, and why recent executive orders have sparked panic across the disability community. She offers clear guidance for families navigating IEPs and 504 plans, demystifies enforcement and funding structures, and shares practical ways to advocate for your child right now. With warmth, honesty, and deep policy knowledge, Kuna brings clarity to a complex moment—and reminds us that informed advocacy starts with understanding your rights.

Resources and Ways to Connect

Learn more from the Council for Exceptional Children:

Learn more about MitoAction:

]]> 00:37:18 <![CDATA[How to Become Paired with A Service Dog with Rachel Friedman]]> Wed, 07 May 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2026274 https://energy-in-action-by-mitoaction.castos.com/episodes/how-to-become-paired-with-a-service-dog-with-rachel-friedman Rachel Friedman has spent over two decades helping people with medical, psychiatric, and mobility challenges build transformative partnerships with service dogs. As the founder of A Better Pet, she combines her background in social work with her unique gift for animal behavior to match each client with their ideal “make and model” — a dog trained not just to assist, but to connect.

In this episode of Energy in Action, Rachel joins Marcy Young to walk through her process, philosophy, and deep personal connection to her work. She shares what makes a dog suitable for service, how training evolves over time, and why a strong bond is the foundation of every successful placement. Rachel also opens up about her own unexpected health scare, and how her service dog helped her regain independence after a stroke.

Whether you’ve been curious about service dogs or are considering one for yourself or a loved one, this episode is full of thoughtful insight, hard-earned wisdom, and heart.

Resources and Ways to Connect

]]> full false Rachel Friedman has spent over two decades helping people with medical, psychiatric, and mobility challenges build transformative partnerships with service dogs. As the founder of A Better Pet, she combines her background in social work with her unique gift for animal behavior to match each client with their ideal “make and model” — a dog trained not just to assist, but to connect.

In this episode of Energy in Action, Rachel joins Marcy Young to walk through her process, philosophy, and deep personal connection to her work. She shares what makes a dog suitable for service, how training evolves over time, and why a strong bond is the foundation of every successful placement. Rachel also opens up about her own unexpected health scare, and how her service dog helped her regain independence after a stroke.

Whether you’ve been curious about service dogs or are considering one for yourself or a loved one, this episode is full of thoughtful insight, hard-earned wisdom, and heart.

Resources and Ways to Connect

]]> 00:37:35 <![CDATA[Honoring Sandra Russell Through 15 Years of Derby Day]]> Wed, 16 Apr 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2013644 https://energy-in-action-by-mitoaction.castos.com/episodes/honoring-sandra-russell-through-15-years-of-derby-day When Jonathan Russell lost his mother Sandra to mitochondrial disease, he and his family turned grief into action—launching what would become one of MitoAction’s most cherished annual events. Now in its 15th year, the Sandra K Russell Derby Day Benefit is a celebration of community, hope, and resilience.

In this episode of Energy in Action, Jonathan shares how Derby Day began as a backyard tradition and grew into a high-energy Boston fundraiser drawing hundreds of guests. He walks us through the planning process, the meaningful impact of the event, and the incredible role it plays in supporting families affected by mito. Listeners will learn how the event supports MitoAction’s work year-round and how a portion of proceeds fund the Matthew Hardy Camper Fund—giving kids with mitochondrial disease a chance to experience the magic of summer camp.

Whether you’ve attended Derby Day or are hearing about it for the first time, this episode highlights why it’s so much more than just a party—it’s a powerful tribute, a fundraising lifeline, and a joyful reminder of what we can accomplish when we come together.

Learn More About Derby Day and MitoAction:

 

]]> false When Jonathan Russell lost his mother Sandra to mitochondrial disease, he and his family turned grief into action—launching what would become one of MitoAction’s most cherished annual events. Now in its 15th year, the Sandra K Russell Derby Day Benefit is a celebration of community, hope, and resilience.

In this episode of Energy in Action, Jonathan shares how Derby Day began as a backyard tradition and grew into a high-energy Boston fundraiser drawing hundreds of guests. He walks us through the planning process, the meaningful impact of the event, and the incredible role it plays in supporting families affected by mito. Listeners will learn how the event supports MitoAction’s work year-round and how a portion of proceeds fund the Matthew Hardy Camper Fund—giving kids with mitochondrial disease a chance to experience the magic of summer camp.

Whether you’ve attended Derby Day or are hearing about it for the first time, this episode highlights why it’s so much more than just a party—it’s a powerful tribute, a fundraising lifeline, and a joyful reminder of what we can accomplish when we come together.

Learn More About Derby Day and MitoAction:

 

]]> 00:29:20 <![CDATA[The Lifesaving Bonds Between Service Dogs and Their Mito Warriors]]> Wed, 02 Apr 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/2005171 https://energy-in-action-by-mitoaction.castos.com/episodes/the-lifesaving-bonds-between-service-dogs-and-their-mito-warriors Living with mitochondrial disease means navigating a life filled with uncertainty, medical complexity, and physical limitations. For April and Jen, two women in the MitoAction community, the decision to bring a service dog into their lives became a turning point—one that offered not just support, but survival.

In this episode of Energy in Action, April and Jen share their powerful experiences with their service dogs, Bailey and Lexi. From the moment of choosing the right dog to the challenges and rewards of doing the training themselves, both women reveal how their dogs have become vital members of their medical team. Jen recalls how Lexi detected blood clots and infections before doctors could—ultimately saving her life. April opens up about how Bailey provides walking stability, physical grounding during anxiety attacks, and comfort through complex medical procedures.

They also discuss the real-world challenges of having a service dog in public spaces, the emotional depth of the bond they’ve formed, and the critical role these dogs play in managing not just their symptoms, but their dignity and independence. Jen also speaks candidly about the profound grief she and Lexi endured after the tragic loss of her wife—and how they’ve leaned on each other in the months since.

Their stories are a powerful reminder of the intelligence, intuition, and love service dogs can bring—and the strength that comes from finding the right partner to walk beside you through illness and beyond.

Resources and Ways to Connect

Learn More About MitoAction:

]]> full false Living with mitochondrial disease means navigating a life filled with uncertainty, medical complexity, and physical limitations. For April and Jen, two women in the MitoAction community, the decision to bring a service dog into their lives became a turning point—one that offered not just support, but survival.

In this episode of Energy in Action, April and Jen share their powerful experiences with their service dogs, Bailey and Lexi. From the moment of choosing the right dog to the challenges and rewards of doing the training themselves, both women reveal how their dogs have become vital members of their medical team. Jen recalls how Lexi detected blood clots and infections before doctors could—ultimately saving her life. April opens up about how Bailey provides walking stability, physical grounding during anxiety attacks, and comfort through complex medical procedures.

They also discuss the real-world challenges of having a service dog in public spaces, the emotional depth of the bond they’ve formed, and the critical role these dogs play in managing not just their symptoms, but their dignity and independence. Jen also speaks candidly about the profound grief she and Lexi endured after the tragic loss of her wife—and how they’ve leaned on each other in the months since.

Their stories are a powerful reminder of the intelligence, intuition, and love service dogs can bring—and the strength that comes from finding the right partner to walk beside you through illness and beyond.

Resources and Ways to Connect

Learn More About MitoAction:

]]> 00:58:07 <![CDATA[Faced with Medical Kidnapping: Skyler’s Story]]> Wed, 19 Mar 2025 17:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1985832 https://energy-in-action-by-mitoaction.castos.com/episodes/faced-with-medical-kidnapping-skylers-story At just 13 years old, Skyler’s life took a harrowing turn when she was forcibly separated from her parents and accused of fabricating her illness. Despite years of documented medical history, suspected mitochondrial disease, and a range of debilitating symptoms, doctors and authorities dismissed her condition—leading to a traumatic case of medical kidnapping.

In this episode of Energy in Action, Skyler bravely recounts her journey from a childhood filled with chronic illness to the moment she was taken from her family, placed into foster care, and forced to endure psychological manipulation by medical professionals who refused to believe her pain was real. She shares the devastating impact of being wrongly accused, the emotional toll on her family, and how she ultimately fought to regain control over her own medical narrative.

Skyler’s resilience shines through as she reflects on the lasting trauma of the experience, her ongoing battle with mitochondrial disease, and her determination to move forward. Her story serves as a powerful warning about the dangers of misdiagnosing medical child abuse—and a testament to the importance of patient advocacy, self-trust, and never giving up the fight for proper care.

Resources and Ways to Connect

Learn More About MitoAction:

]]> full false At just 13 years old, Skyler’s life took a harrowing turn when she was forcibly separated from her parents and accused of fabricating her illness. Despite years of documented medical history, suspected mitochondrial disease, and a range of debilitating symptoms, doctors and authorities dismissed her condition—leading to a traumatic case of medical kidnapping.

In this episode of Energy in Action, Skyler bravely recounts her journey from a childhood filled with chronic illness to the moment she was taken from her family, placed into foster care, and forced to endure psychological manipulation by medical professionals who refused to believe her pain was real. She shares the devastating impact of being wrongly accused, the emotional toll on her family, and how she ultimately fought to regain control over her own medical narrative.

Skyler’s resilience shines through as she reflects on the lasting trauma of the experience, her ongoing battle with mitochondrial disease, and her determination to move forward. Her story serves as a powerful warning about the dangers of misdiagnosing medical child abuse—and a testament to the importance of patient advocacy, self-trust, and never giving up the fight for proper care.

Resources and Ways to Connect

Learn More About MitoAction:

]]> 01:00:58 <![CDATA[Mitochondrial Shifts: A Conversation with Genetic Counselor Devin Shuman]]> Wed, 05 Mar 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1985828 https://energy-in-action-by-mitoaction.castos.com/episodes/mitochondrial-shifts-a-conversation-with-genetic-counselor-devin-shuman In this episode of Energy in Action, host Marcy Young introduces Devin Shuman—a genetic counselor who lives with a rare form of mitochondrial DNA depletion syndrome and brings a unique blend of medical knowledge and personal experience to the mito community. Devin shares her diagnostic odyssey, the challenge of navigating healthcare systems that have evolved rapidly in the last decade, and how genetic testing has both expanded and restricted access to appropriate care.

Together, Marcy and Devin discuss major shifts in how primary and secondary mitochondrial disease are defined, the growing emphasis on genetic confirmation, and the hope that more nuanced research will eventually help those stuck in diagnostic limbo. Devin’s down-to-earth perspective and empathetic approach highlight the importance of open communication between providers and patients. Tune in for a candid look at life with mito, the complexities of genetic testing, and the community resources that keep hope alive.

Join Wondering Wednesdays with Devin

A monthly, informal webinar where you can ask Devin genetic-related questions in real-time.
Wondering Wednesdays – MitoAction

Connect with MitoAction

]]> full false In this episode of Energy in Action, host Marcy Young introduces Devin Shuman—a genetic counselor who lives with a rare form of mitochondrial DNA depletion syndrome and brings a unique blend of medical knowledge and personal experience to the mito community. Devin shares her diagnostic odyssey, the challenge of navigating healthcare systems that have evolved rapidly in the last decade, and how genetic testing has both expanded and restricted access to appropriate care.

Together, Marcy and Devin discuss major shifts in how primary and secondary mitochondrial disease are defined, the growing emphasis on genetic confirmation, and the hope that more nuanced research will eventually help those stuck in diagnostic limbo. Devin’s down-to-earth perspective and empathetic approach highlight the importance of open communication between providers and patients. Tune in for a candid look at life with mito, the complexities of genetic testing, and the community resources that keep hope alive.

Join Wondering Wednesdays with Devin

A monthly, informal webinar where you can ask Devin genetic-related questions in real-time.
Wondering Wednesdays – MitoAction

Connect with MitoAction

]]> 00:39:24 <![CDATA[The Superhero Project’s Mission to Empower Kids]]> Wed, 19 Feb 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1976359 https://energy-in-action-by-mitoaction.castos.com/episodes/the-superhero-projects-mission-to-empower-kids In this uplifting episode of Energy in Action, host Marcy Young is joined by Lisa Kollins and Taryn Cozzy of The Superhero Project—a nonprofit that uses art to highlight the strengths and identities of children and teens living with serious illnesses and disabilities. Lisa, the project’s founder, and Taryn, the creative director, walk listeners through their powerful process: from the initial strengths-based interview with each child to the creation of custom superhero posters designed by volunteer artists worldwide.

By focusing on the child’s favorite activities, unique traits, and hopes for positive change, each poster becomes more than just art—it’s a celebration of individuality and resilience, reminding families of the bright, imaginative spirit that endures beyond any medical diagnosis. Tune in to hear heartwarming stories of kids stepping into their heroic alter egos, and learn how your family can be a part of The Superhero Project’s global community of kindness.

Resources and Ways to Connect

]]> full false In this uplifting episode of Energy in Action, host Marcy Young is joined by Lisa Kollins and Taryn Cozzy of The Superhero Project—a nonprofit that uses art to highlight the strengths and identities of children and teens living with serious illnesses and disabilities. Lisa, the project’s founder, and Taryn, the creative director, walk listeners through their powerful process: from the initial strengths-based interview with each child to the creation of custom superhero posters designed by volunteer artists worldwide.

By focusing on the child’s favorite activities, unique traits, and hopes for positive change, each poster becomes more than just art—it’s a celebration of individuality and resilience, reminding families of the bright, imaginative spirit that endures beyond any medical diagnosis. Tune in to hear heartwarming stories of kids stepping into their heroic alter egos, and learn how your family can be a part of The Superhero Project’s global community of kindness.

Resources and Ways to Connect

]]> 00:40:37 <![CDATA[From Diagnosis to Dalia’s Wish: A Loving Family's Journey with Mito]]> Wed, 05 Feb 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1966617 https://energy-in-action-by-mitoaction.castos.com/episodes/from-diagnosis-to-dalias-wish-a-loving-familys-journey-with-mito In this moving episode of Energy in Action, host Marcy Young speaks with Angela Schneider, a devoted mother of four, whose daughter Olivia lives with a rare form of mitochondrial disease. Angela shares how Olivia’s diagnosis brought life as they knew it to a halt—leading Angela to leave her full-time job in order to coordinate endless medical appointments, navigate complex school accommodations, and manage Olivia’s frequent surgeries and mobility challenges.

Angela recounts the family’s transformational experience with Dalias’s Wish, a MitoAction program that grants wish trips to families affected by mito. Traveling to Give Kids the World Village in Orlando proved not only magical for Olivia and her siblings but also a much-needed reminder that joy can still bloom amidst daily health battles. Angela’s unwavering positivity and devotion to her children shine throughout, offering listeners a poignant glimpse into the resilience and hope that fuel families living with mitochondrial disease.

Resources and Ways to Connect with MitoAction

]]> false In this moving episode of Energy in Action, host Marcy Young speaks with Angela Schneider, a devoted mother of four, whose daughter Olivia lives with a rare form of mitochondrial disease. Angela shares how Olivia’s diagnosis brought life as they knew it to a halt—leading Angela to leave her full-time job in order to coordinate endless medical appointments, navigate complex school accommodations, and manage Olivia’s frequent surgeries and mobility challenges.

Angela recounts the family’s transformational experience with Dalias’s Wish, a MitoAction program that grants wish trips to families affected by mito. Traveling to Give Kids the World Village in Orlando proved not only magical for Olivia and her siblings but also a much-needed reminder that joy can still bloom amidst daily health battles. Angela’s unwavering positivity and devotion to her children shine throughout, offering listeners a poignant glimpse into the resilience and hope that fuel families living with mitochondrial disease.

Resources and Ways to Connect with MitoAction

]]> 00:41:09 <![CDATA[Raising Warriors: A Mother’s Journey with VLCAD]]> Wed, 22 Jan 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1946729 https://energy-in-action-by-mitoaction.castos.com/episodes/raising-warriors-a-mothers-journey-with-vlcad In this heartfelt episode of Energy in Action, host Marcy Young chats with Megan Cranshaw, a devoted mother of two young boys who both have VLCAD (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency). Megan shares the unique challenges of navigating rare disease parenting during a global pandemic—from midnight feedings and managing strict dietary regimens to balancing the desire for her children’s active lives with the ever-present worry about their health.

Through vulnerability and humor, Megan describes the joy she finds in her sons’ resilience and how she’s learned to give herself grace when life doesn’t match the expectations she once had. She also opens up about seeking a community that understands, celebrating her discovery of MitoAction, and embracing the power of advocacy both for her family and others in the mitochondrial disease community.

Resources and Ways to Connect with MitoAction

Tune in to hear Megan’s uplifting perspective on raising kids with VLCAD and discover how community, compassion, and self-advocacy can light the path forward.

Keywords: VLCAD, Rare Diseases, Chronic Illness, Parenting with Mito, Patient Advocacy, Medical Anxiety, Invisible Illness, Balancing Act, Strict Diet, Grace in Motherhood, Mitochondrial Disease

]]> full false In this heartfelt episode of Energy in Action, host Marcy Young chats with Megan Cranshaw, a devoted mother of two young boys who both have VLCAD (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency). Megan shares the unique challenges of navigating rare disease parenting during a global pandemic—from midnight feedings and managing strict dietary regimens to balancing the desire for her children’s active lives with the ever-present worry about their health.

Through vulnerability and humor, Megan describes the joy she finds in her sons’ resilience and how she’s learned to give herself grace when life doesn’t match the expectations she once had. She also opens up about seeking a community that understands, celebrating her discovery of MitoAction, and embracing the power of advocacy both for her family and others in the mitochondrial disease community.

Resources and Ways to Connect with MitoAction

Tune in to hear Megan’s uplifting perspective on raising kids with VLCAD and discover how community, compassion, and self-advocacy can light the path forward.

Keywords: VLCAD, Rare Diseases, Chronic Illness, Parenting with Mito, Patient Advocacy, Medical Anxiety, Invisible Illness, Balancing Act, Strict Diet, Grace in Motherhood, Mitochondrial Disease

]]> 00:31:15 <![CDATA[From Nurse to Advocate: Tania’s Mito Experience]]> Wed, 08 Jan 2025 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1935245 https://energy-in-action-by-mitoaction.castos.com/episodes/from-nurse-to-advocate-tanias-mito-experience In this powerful episode of Energy in Action, host Marcy Young welcomes Tania, a resilient mito patient, as she shares her compelling journey of navigating life with a rare and challenging diagnosis. Tania recounts her transition from a fulfilling career as a pediatric nurse to becoming an advocate and educator within the mitochondrial disease community.

Together, they explore Tania’s early symptoms, the frustrations of searching for answers, and her eventual clinical diagnosis of mitochondrial disease despite inconclusive genetic testing. Tania opens up about the emotional toll of stepping away from her career, the grief of losing aspects of her identity, and the unique ways she’s found to give back—whether through mentoring medical students, supporting her family, or educating others about rare diseases.

This heartfelt conversation provides hope and insight for those facing similar challenges and highlights the importance of resilience, connection, and advocacy in the face of uncertainty.

Resources and Ways to Connect with MitoAction:

]]> full false In this powerful episode of Energy in Action, host Marcy Young welcomes Tania, a resilient mito patient, as she shares her compelling journey of navigating life with a rare and challenging diagnosis. Tania recounts her transition from a fulfilling career as a pediatric nurse to becoming an advocate and educator within the mitochondrial disease community.

Together, they explore Tania’s early symptoms, the frustrations of searching for answers, and her eventual clinical diagnosis of mitochondrial disease despite inconclusive genetic testing. Tania opens up about the emotional toll of stepping away from her career, the grief of losing aspects of her identity, and the unique ways she’s found to give back—whether through mentoring medical students, supporting her family, or educating others about rare diseases.

This heartfelt conversation provides hope and insight for those facing similar challenges and highlights the importance of resilience, connection, and advocacy in the face of uncertainty.

Resources and Ways to Connect with MitoAction:

]]> 00:37:09 <![CDATA[Dateability: A Dating App for the Disability and Chronic Illness Community]]> Wed, 18 Dec 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1922791 https://energy-in-action-by-mitoaction.castos.com/episodes/dateability-a-dating-app-for-the-disability-and-chronic-illness-community In this episode of Energy in Action, host Marcy Young sits down with sisters Jacqueline and Alexa Child, co-founders of Dateability, the first dating app designed for people with disabilities and chronic illnesses. Together, they share the story of how personal experiences with rejection, stigma, and chronic illness inspired them to create a safe, inclusive platform for connection.

Jacqueline opens up about her journey with chronic illness and how traditional dating apps fell short in addressing the realities of dating with a disability. Alexa reflects on their mission to bring dating back to its roots—fostering meaningful, authentic connections without judgment. From launching the app with no prior tech experience to gaining national media recognition, the sisters explain how Dateability is transforming lives and breaking down societal stigmas.

Whether you’re looking for love, friendship, or community, this episode will inspire you to explore Dateability and celebrate the movement it represents.

Guest Info and Links:

Resources and Ways to Connect with MitoAction:

]]> full false In this episode of Energy in Action, host Marcy Young sits down with sisters Jacqueline and Alexa Child, co-founders of Dateability, the first dating app designed for people with disabilities and chronic illnesses. Together, they share the story of how personal experiences with rejection, stigma, and chronic illness inspired them to create a safe, inclusive platform for connection.

Jacqueline opens up about her journey with chronic illness and how traditional dating apps fell short in addressing the realities of dating with a disability. Alexa reflects on their mission to bring dating back to its roots—fostering meaningful, authentic connections without judgment. From launching the app with no prior tech experience to gaining national media recognition, the sisters explain how Dateability is transforming lives and breaking down societal stigmas.

Whether you’re looking for love, friendship, or community, this episode will inspire you to explore Dateability and celebrate the movement it represents.

Guest Info and Links:

Resources and Ways to Connect with MitoAction:

]]> 00:32:26 <![CDATA[A Family of Mito Warriors who PUBLISH!]]> Wed, 04 Dec 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1913358 https://energy-in-action-by-mitoaction.castos.com/episodes/a-family-of-mito-warriors-who-publish In this episode of Energy in Action, host Marcy Young welcomes J.B. McGee, a mother and advocate whose story sheds light on the complex journey of living with mitochondrial disease. J.B. shares the challenges her family faced in securing diagnoses for her two sons, Noah and Jonah, and how they overcame countless hurdles, including medical gaslighting and systemic misunderstandings.

J.B. discusses her family’s experience with navigating healthcare, fighting for validation, and ultimately finding hope and understanding. She also introduces Sports Impossible, a heartwarming book she co-authored with her son Noah, inspired by his journey to find a sport he could play despite his physical limitations. This creative project not only gave Noah a sense of empowerment but also highlights the resilience of the mitochondrial community.

Guest Info and Links:

Resources and Ways to Connect with MitoAction:

Tune in to hear J.B.’s incredible story, and don’t forget to check out Sports Impossible to support this amazing mother-son duo. Their journey is a testament to the power of perseverance, creativity, and community!

]]> full false In this episode of Energy in Action, host Marcy Young welcomes J.B. McGee, a mother and advocate whose story sheds light on the complex journey of living with mitochondrial disease. J.B. shares the challenges her family faced in securing diagnoses for her two sons, Noah and Jonah, and how they overcame countless hurdles, including medical gaslighting and systemic misunderstandings.

J.B. discusses her family’s experience with navigating healthcare, fighting for validation, and ultimately finding hope and understanding. She also introduces Sports Impossible, a heartwarming book she co-authored with her son Noah, inspired by his journey to find a sport he could play despite his physical limitations. This creative project not only gave Noah a sense of empowerment but also highlights the resilience of the mitochondrial community.

Guest Info and Links:

Resources and Ways to Connect with MitoAction:

Tune in to hear J.B.’s incredible story, and don’t forget to check out Sports Impossible to support this amazing mother-son duo. Their journey is a testament to the power of perseverance, creativity, and community!

]]> 00:51:11 <![CDATA[Our Space: Building Community for Young Adults with Mitochondrial Disease]]> Wed, 20 Nov 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1900340 https://energy-in-action-by-mitoaction.castos.com/episodes/our-space-building-community-for-young-adults-with-mitochondrial-disease In this episode of Energy in Action, host Marcy Young sits down with Alex Salser, a passionate advocate and volunteer with MitoAction, to discuss her inspiring journey of overcoming challenges with LCHAD, a mitochondrial disease. Alex shares her recent milestone of graduating college in just three years, despite numerous hospitalizations, and how she continues to fight for the life she wants to live.

Alex also introduces Our Space, the young adult support group she leads through MitoAction, designed to help those aged 18 to 30 connect, share, and navigate life with mitochondrial disease. From relationships and careers to education and insurance, Our Space fosters understanding, encouragement, and friendship for those facing similar challenges.

Resources and Ways to Connect with MitoAction:

Tune in to hear Alex’s incredible story and learn how Our Space is making a difference for young adults in the mitochondrial disease community.

]]> full false In this episode of Energy in Action, host Marcy Young sits down with Alex Salser, a passionate advocate and volunteer with MitoAction, to discuss her inspiring journey of overcoming challenges with LCHAD, a mitochondrial disease. Alex shares her recent milestone of graduating college in just three years, despite numerous hospitalizations, and how she continues to fight for the life she wants to live.

Alex also introduces Our Space, the young adult support group she leads through MitoAction, designed to help those aged 18 to 30 connect, share, and navigate life with mitochondrial disease. From relationships and careers to education and insurance, Our Space fosters understanding, encouragement, and friendship for those facing similar challenges.

Resources and Ways to Connect with MitoAction:

Tune in to hear Alex’s incredible story and learn how Our Space is making a difference for young adults in the mitochondrial disease community.

]]> 00:15:10 <![CDATA[April - Mito and Social Media Extraordinaire]]> Wed, 06 Nov 2024 19:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1875719 https://energy-in-action-by-mitoaction.castos.com/episodes/april-mito-and-social-media-extraordinaire full 121 false 00:34:26 <![CDATA[Sharickah - Mito Mom Warrior]]> Wed, 23 Oct 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1864612 https://energy-in-action-by-mitoaction.castos.com/episodes/sharickah-mito-mom-warrior ENERGY IN ACTION - EPISODE 120

Sharickah - Mito Mom Warrior

 

Sharickah is a mito mom and a fierce fighter and advocate for her son. 

 

EPISODE HIGHLIGHTS

 

Can you share with us what your son's diagnosis journey has been like?

My 8-year-old son was diagnosed at 6 days old with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. At the end of my pregnancy, my doctor noticed a depletion of fluids and I was scheduled for an emergency c-section because that could be an indication of distress. After being born, my son struggled with maintaining his body temperature and blood sugar, which were the first signs of something being not quite right. As first time parents, looking to the doctors who didn't seem concerned, we took him home from the hospital as planned. The next day, we received a call from the genetics clinic to let us know that VLCAD was flagged on the newborn screening. We went straight to the hospital and treatment began right away. The first couple of years were tough and illness led to hospital stays numerous times. 

 

What are your son's limitations now that he's older?

The main two things are the fat restriction and energy output. He's up to 14 grams a fat, which is great, but it's still limiting. Now that he's older, and knows how to read food labels, he's gotten more vocal about what he wants to eat and he's navigating his own feelings about his limitations. Energy output is key because he wants to play sports, play at recess and be active at P.E. and sometimes he pushes a bit too hard and overdoes it.

 

How do you navigate school and rare disease?

My son doesn't want his friends to know that he has VLCAD. You can't look at him and tell that anything is wrong, so it never occurred to us to have a conversation with his peers. Of course, we had a conversation with school staff. One day when he came home from school, he was telling me that a classmate asked him why he couldn't have chocolate milk at lunch like them and he told them he didn't want to talk about it. I'm trying to let him lead how we navigate this. As of now, none of his friends know and it seems like he wants to keep it that way. I think when the time is right and he's ready to share that part of himself, he will.

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linke

din.com/company/mitoaction

 

]]> full 120 false ENERGY IN ACTION - EPISODE 120

Sharickah - Mito Mom Warrior

 

Sharickah is a mito mom and a fierce fighter and advocate for her son. 

 

EPISODE HIGHLIGHTS

 

Can you share with us what your son's diagnosis journey has been like?

My 8-year-old son was diagnosed at 6 days old with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. At the end of my pregnancy, my doctor noticed a depletion of fluids and I was scheduled for an emergency c-section because that could be an indication of distress. After being born, my son struggled with maintaining his body temperature and blood sugar, which were the first signs of something being not quite right. As first time parents, looking to the doctors who didn't seem concerned, we took him home from the hospital as planned. The next day, we received a call from the genetics clinic to let us know that VLCAD was flagged on the newborn screening. We went straight to the hospital and treatment began right away. The first couple of years were tough and illness led to hospital stays numerous times. 

 

What are your son's limitations now that he's older?

The main two things are the fat restriction and energy output. He's up to 14 grams a fat, which is great, but it's still limiting. Now that he's older, and knows how to read food labels, he's gotten more vocal about what he wants to eat and he's navigating his own feelings about his limitations. Energy output is key because he wants to play sports, play at recess and be active at P.E. and sometimes he pushes a bit too hard and overdoes it.

 

How do you navigate school and rare disease?

My son doesn't want his friends to know that he has VLCAD. You can't look at him and tell that anything is wrong, so it never occurred to us to have a conversation with his peers. Of course, we had a conversation with school staff. One day when he came home from school, he was telling me that a classmate asked him why he couldn't have chocolate milk at lunch like them and he told them he didn't want to talk about it. I'm trying to let him lead how we navigate this. As of now, none of his friends know and it seems like he wants to keep it that way. I think when the time is right and he's ready to share that part of himself, he will.

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linke

din.com/company/mitoaction

 

]]> 00:38:41 <![CDATA[Daily Living Aids]]> Wed, 02 Oct 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1848488 https://energy-in-action-by-mitoaction.castos.com/episodes/daily-living-aids ENERGY IN ACTION - EPISODE 119

Daily Living Aids

 

Barbara Piascik and Jackie Bumba join us from the Cleveland Sight Center store, which serves those with low and no vision by providing more than 800 innovative daily living products. They're here to answer all of our questions about using the products available to cope with vision loss and impairment and about the support services available through the Cleveland Sight Center. 

 

EPISODE HIGHLIGHTS

 

What is a daily living aid?

They're products, devices and equipment that help people with disabilities or the elderly to perform everyday tasks or activities. This includes personal care and mobility devices that support daily living skills so people can live independently.

 

There are several mitochondrial conditions that cause vision issues. When is the best time to connect with you about daily living products?

Most vision conditions are progressive and you're aware of your vision changes. Educating yourself about the products available is important because while you may not need something now, you may need it in the future. It's likely easier to learn how to use a product while you still have vision, compared to when you don't.

 

What type of products are most beneficial for people with low or no vision?

Some CCT / reading machines have software that can take photos and read things back to you. A relatively new product is a glasses camera that reads text. Bump dots are a simple sticker that can be stuck to household items, like washing machine buttons, to help people label, mark and identify things they commonly use. We have talking clocks, watches, keychains, scales, tire gauges and tape measures— there are so many products from no tech to high tech. Technology is constantly changing and improving and we continue to evaluate new products as we make them available through the store. 

 

How does someone get started?

When you register as a Cleveland Sight Center client, which there's no fee for, you're eligible for all of our services— shopping in our store, being seen in the clinic, early intervention, children's services, vision rehab, recreational activities and more. You'll be assigned a caseworker who will guide you and educate you about the services that will be helpful to you. If you're not local to one of our Ohio stores, we can start with a needs analysis over the phone and we can ship products across all 50 states.

 

 

LINKS & RESOURCES MENTIONED

Cleveland Sight Center

https://www.clevelandsightcenter.org/

Cleveland Sight Center Store

https://store.clevelandsightcenter.org/

CSC Call Center

https://www.clevelandsightcenter.org/call-center

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https

://www.linkedin.com/company/mitoaction

 

]]> full 119 false ENERGY IN ACTION - EPISODE 119

Daily Living Aids

 

Barbara Piascik and Jackie Bumba join us from the Cleveland Sight Center store, which serves those with low and no vision by providing more than 800 innovative daily living products. They're here to answer all of our questions about using the products available to cope with vision loss and impairment and about the support services available through the Cleveland Sight Center. 

 

EPISODE HIGHLIGHTS

 

What is a daily living aid?

They're products, devices and equipment that help people with disabilities or the elderly to perform everyday tasks or activities. This includes personal care and mobility devices that support daily living skills so people can live independently.

 

There are several mitochondrial conditions that cause vision issues. When is the best time to connect with you about daily living products?

Most vision conditions are progressive and you're aware of your vision changes. Educating yourself about the products available is important because while you may not need something now, you may need it in the future. It's likely easier to learn how to use a product while you still have vision, compared to when you don't.

 

What type of products are most beneficial for people with low or no vision?

Some CCT / reading machines have software that can take photos and read things back to you. A relatively new product is a glasses camera that reads text. Bump dots are a simple sticker that can be stuck to household items, like washing machine buttons, to help people label, mark and identify things they commonly use. We have talking clocks, watches, keychains, scales, tire gauges and tape measures— there are so many products from no tech to high tech. Technology is constantly changing and improving and we continue to evaluate new products as we make them available through the store. 

 

How does someone get started?

When you register as a Cleveland Sight Center client, which there's no fee for, you're eligible for all of our services— shopping in our store, being seen in the clinic, early intervention, children's services, vision rehab, recreational activities and more. You'll be assigned a caseworker who will guide you and educate you about the services that will be helpful to you. If you're not local to one of our Ohio stores, we can start with a needs analysis over the phone and we can ship products across all 50 states.

 

 

LINKS & RESOURCES MENTIONED

Cleveland Sight Center

https://www.clevelandsightcenter.org/

Cleveland Sight Center Store

https://store.clevelandsightcenter.org/

CSC Call Center

https://www.clevelandsightcenter.org/call-center

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https

://www.linkedin.com/company/mitoaction

 

]]> 00:27:38 <![CDATA[Rare Disease In the Room]]> Wed, 18 Sep 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1836878 https://energy-in-action-by-mitoaction.castos.com/episodes/rare-disease-in-the-room ENERGY IN ACTION - EPISODE 118

Rare Disease In the Room

 

There are tough conversations to be had around rare disease, especially when it affects children. Danielle Eaves Hernandez is a certified child life specialist and recreational therapist. She has worked with hundreds of families to support children affected by rare disease through the language they speak best— play! She's a knowledgeable professional and advocate and we're lucky to have her speak with us about how to best tackle some of these difficult conversations.

 

EPISODE HIGHLIGHTS

 

I haven't told my kids about my disease. I'm scared to talk to my kids, but I'm also scared not to talk to them. What should I do?

It's best to start the conversation by asking kids about how they see things from their perspective. They recognize things and understand the impacts on their lives much differently when they're younger. As they grow older and become more socially aware, they may recognize and understand more. I encourage families to do what they're comfortable with, but I encourage everyone to come together so no one feels isolated. When conversations with kids take place, understand that they may take the information in differently, compartmentalize it and chew on it. It's important to keep conversations open-ended. 

 

Is it best to protect children from the truths about a parent's rare disease to protect their childhood and avoid worry or fear they may feel?

It's natural to want to protect children, but when the time is right that you can disclose the truth, there will be a relief that comes. It also teaches kids that we don't have to go through scary things alone and that as a family, you'll face the good, bad, ugly and in-between together. 

 

If a disease isn't invisible and where children take notice, what is your advice for supporting the children in that scenario?

I approach it from a child-led place, asking questions that help me understand their perspective. With younger children especially, playing doctor with a puppet with any medical equipment they may see in their world helps them to engage and act out what they witness. This is an important outlet to give them control, identify worries and misconceptions and then have talks about them.

 

Where should a family seek out to get this type of care?

Families should look for palliative care wherever they live and that's a great place to start. If you need to find a provider, you can visit the National Hospice and Palliative Care Organization (NHPCO) online for assistance finding resources. You can also seek out therapy through a mental health professional to check in with children, even if it's only temporary or to help support them through a big life event. 

 

However children are affected by rare diseases, how can we help them feel hopeful?

We talk a lot in pediatric hospice and palliative care about how the things we hope for can take shape in different forms. We hope for things, but then our hopes may change with disease progression. It's important to honor how hope can shift and change, allowing space for hope to exist and thrive, even when we're in a situation we hoped to never be in. 

 

 

LINKS & RESOURCES MENTIONED

Is a Worry Worrying You?

https://www.amazon.com/Worry-Worrying-You-Ferida-Wolff/dp/1933718056

Cells, Genes & Protein Machines

https://www.amazon.com/Cells-genes-protein-machines-science/dp/B000116642

National Hospice and Palliative Care Organization (NHPCO)

https://www.nhpco.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

ht

tps:/...

]]> full 118 false ENERGY IN ACTION - EPISODE 118

Rare Disease In the Room

 

There are tough conversations to be had around rare disease, especially when it affects children. Danielle Eaves Hernandez is a certified child life specialist and recreational therapist. She has worked with hundreds of families to support children affected by rare disease through the language they speak best— play! She's a knowledgeable professional and advocate and we're lucky to have her speak with us about how to best tackle some of these difficult conversations.

 

EPISODE HIGHLIGHTS

 

I haven't told my kids about my disease. I'm scared to talk to my kids, but I'm also scared not to talk to them. What should I do?

It's best to start the conversation by asking kids about how they see things from their perspective. They recognize things and understand the impacts on their lives much differently when they're younger. As they grow older and become more socially aware, they may recognize and understand more. I encourage families to do what they're comfortable with, but I encourage everyone to come together so no one feels isolated. When conversations with kids take place, understand that they may take the information in differently, compartmentalize it and chew on it. It's important to keep conversations open-ended. 

 

Is it best to protect children from the truths about a parent's rare disease to protect their childhood and avoid worry or fear they may feel?

It's natural to want to protect children, but when the time is right that you can disclose the truth, there will be a relief that comes. It also teaches kids that we don't have to go through scary things alone and that as a family, you'll face the good, bad, ugly and in-between together. 

 

If a disease isn't invisible and where children take notice, what is your advice for supporting the children in that scenario?

I approach it from a child-led place, asking questions that help me understand their perspective. With younger children especially, playing doctor with a puppet with any medical equipment they may see in their world helps them to engage and act out what they witness. This is an important outlet to give them control, identify worries and misconceptions and then have talks about them.

 

Where should a family seek out to get this type of care?

Families should look for palliative care wherever they live and that's a great place to start. If you need to find a provider, you can visit the National Hospice and Palliative Care Organization (NHPCO) online for assistance finding resources. You can also seek out therapy through a mental health professional to check in with children, even if it's only temporary or to help support them through a big life event. 

 

However children are affected by rare diseases, how can we help them feel hopeful?

We talk a lot in pediatric hospice and palliative care about how the things we hope for can take shape in different forms. We hope for things, but then our hopes may change with disease progression. It's important to honor how hope can shift and change, allowing space for hope to exist and thrive, even when we're in a situation we hoped to never be in. 

 

 

LINKS & RESOURCES MENTIONED

Is a Worry Worrying You?

https://www.amazon.com/Worry-Worrying-You-Ferida-Wolff/dp/1933718056

Cells, Genes & Protein Machines

https://www.amazon.com/Cells-genes-protein-machines-science/dp/B000116642

National Hospice and Palliative Care Organization (NHPCO)

https://www.nhpco.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

ht

tps://www.linkedin.com/company/mitoaction

 

]]> 00:38:00 <![CDATA[Rare Sisters]]> Wed, 04 Sep 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1828160 https://energy-in-action-by-mitoaction.castos.com/episodes/rare-sisters ENERGY IN ACTION - EPISODE 117

Rare Sisters

 

My sister-in-law and good friend Erin is a member of the rare disease community. She's joining me to share her story and her rare disease journey. While we have different diagnoses, dealing with an invisible illness is something we both understand. 

 

EPISODE HIGHLIGHTS

 

Can you share about your rare disease journey?

I have a connective tissue disorder called Ehlers-Danlos syndrome and a lot of other diagnoses fall under the umbrella of the disease, such as celiac disease, POTS and allergies. I had multiple mis-diagnoses from the time I was young before I was officially diagnosed with Ehlers-Danlos syndrome. When I was younger, I was always getting hurt and always in pain and I thought it was normal. I would even dislocate joints and I never said anything. I had a lot of symptoms of Ehlers-Danlos syndrome that I wasn't aware of.

 

How much did your rare disease impact your decision to adopt?

My husband and I have always discussed adopting, but having chronic health issues definitely played a part in our decision. It was scary to think about passing something along to a child. So many things can happen in a pregnancy and we had to consider the additional risks associated with having multiple health concerns and the effects that medications may have, or what medications I may have to change or quit taking and how that would affect me. There are so many ways to have children if you have health concerns.

 

How are you balancing rare disease and motherhood?

I have been a teacher for 13 years and my most recent job was an hour from my home. I love teaching, but it got too difficult to make the commute and it was affecting my ability to do my job as well as I wanted and my personal life and the things I could do on the weekends. I was also sick constantly. I found an opportunity to teach from home and I do that full time now. I'm fortunate to have the opportunity and I'm so glad that it worked out. Right after I started my current job is when we found out our daughter was going to be placed with us with little notice, so it worked out well. It has made everything a lot more manageable.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 117 false ENERGY IN ACTION - EPISODE 117

Rare Sisters

 

My sister-in-law and good friend Erin is a member of the rare disease community. She's joining me to share her story and her rare disease journey. While we have different diagnoses, dealing with an invisible illness is something we both understand. 

 

EPISODE HIGHLIGHTS

 

Can you share about your rare disease journey?

I have a connective tissue disorder called Ehlers-Danlos syndrome and a lot of other diagnoses fall under the umbrella of the disease, such as celiac disease, POTS and allergies. I had multiple mis-diagnoses from the time I was young before I was officially diagnosed with Ehlers-Danlos syndrome. When I was younger, I was always getting hurt and always in pain and I thought it was normal. I would even dislocate joints and I never said anything. I had a lot of symptoms of Ehlers-Danlos syndrome that I wasn't aware of.

 

How much did your rare disease impact your decision to adopt?

My husband and I have always discussed adopting, but having chronic health issues definitely played a part in our decision. It was scary to think about passing something along to a child. So many things can happen in a pregnancy and we had to consider the additional risks associated with having multiple health concerns and the effects that medications may have, or what medications I may have to change or quit taking and how that would affect me. There are so many ways to have children if you have health concerns.

 

How are you balancing rare disease and motherhood?

I have been a teacher for 13 years and my most recent job was an hour from my home. I love teaching, but it got too difficult to make the commute and it was affecting my ability to do my job as well as I wanted and my personal life and the things I could do on the weekends. I was also sick constantly. I found an opportunity to teach from home and I do that full time now. I'm fortunate to have the opportunity and I'm so glad that it worked out. Right after I started my current job is when we found out our daughter was going to be placed with us with little notice, so it worked out well. It has made everything a lot more manageable.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:32:52 <![CDATA[Nutritionally Aware - Boosting Energy with the Foods You Eat]]> Wed, 21 Aug 2024 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1791197 https://energy-in-action-by-mitoaction.castos.com/episodes/nutritionally-aware-boosting-energy-with-the-foods-you-eat ENERGY IN ACTION - EPISODE 116

Nutritionally Aware- Boosting Energy with the Foods you Eat

 

Claire Held is a personal nutrition coach and she joins me to talk about healthy eating to create energy and the foods that are helpful for mitochondrial care. If you have low energy, low muscle tone and fatigue, Claire will share resources and advice for how to improve these challenges.

 

EPISODE HIGHLIGHTS

 

What is your health and professional background?

I was born prematurely and in and out of a children's hospital many times with heart failure and kidney failure. Eventually I was diagnosed with LCHADD. In 2009 I went to college, studying metabolics because it's such a young area of research and it's a really important part of healthcare. I graduated with my degree in nutrition and dietetics in 2014. 

 

How can what I choose to put in my body have a positive affect on health issues?

A lot of people with mitochondrial disease suffer from fatigue and low muscle tone, so it's important to be aware of how you eat and to do moderate, low impact exercise. The more tired we are, the less we want to move, but doing this type of exercise will get the health rate up and help strengthen the muscles. We want to be mindful of how much of our diet is coming from simple carbohydrates or ultra-processed foods. These types of food will give you a quick glucose boost which is important to feel energized, but the crash is worse. For muscle pain, rest is important, but an increased protein intake can also help. 

 

What factors most impact our overall feeling of exhaustion and fatigue?

There are 5 main categories: 1. External Environments (job, school, projects, political climate), 2. Internal Environments (home life, finances, relationships), 3. Biological Stressors (overdoing exercise, fighting off disease, infection or illness), 4.Weather (extreme heat, extreme cold, elevation, climate), 5. Diet and Nutrition (deficiencies, interventions).

 

What time-saving hacks do you have for those who don't have the energy to meal prep in advance?

The prepared food is going to be highly processed, have excess fat and additives to preserve it. It's tricky to not reach for prepared foods, but there are ways to ensure you're preparing a meal that's healthy and quick. Plan for go-to meals that don't require you to think about the ingredients and preparation. Even if you can't meal prep in advance, try to cut up vegetables or do other prep that will save you time later when you're tired. 



LINKS & RESOURCES MENTIONED

In Good Company Blog

https://www.i-g-c.com/blog

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

]]> full 116 false ENERGY IN ACTION - EPISODE 116

Nutritionally Aware- Boosting Energy with the Foods you Eat

 

Claire Held is a personal nutrition coach and she joins me to talk about healthy eating to create energy and the foods that are helpful for mitochondrial care. If you have low energy, low muscle tone and fatigue, Claire will share resources and advice for how to improve these challenges.

 

EPISODE HIGHLIGHTS

 

What is your health and professional background?

I was born prematurely and in and out of a children's hospital many times with heart failure and kidney failure. Eventually I was diagnosed with LCHADD. In 2009 I went to college, studying metabolics because it's such a young area of research and it's a really important part of healthcare. I graduated with my degree in nutrition and dietetics in 2014. 

 

How can what I choose to put in my body have a positive affect on health issues?

A lot of people with mitochondrial disease suffer from fatigue and low muscle tone, so it's important to be aware of how you eat and to do moderate, low impact exercise. The more tired we are, the less we want to move, but doing this type of exercise will get the health rate up and help strengthen the muscles. We want to be mindful of how much of our diet is coming from simple carbohydrates or ultra-processed foods. These types of food will give you a quick glucose boost which is important to feel energized, but the crash is worse. For muscle pain, rest is important, but an increased protein intake can also help. 

 

What factors most impact our overall feeling of exhaustion and fatigue?

There are 5 main categories: 1. External Environments (job, school, projects, political climate), 2. Internal Environments (home life, finances, relationships), 3. Biological Stressors (overdoing exercise, fighting off disease, infection or illness), 4.Weather (extreme heat, extreme cold, elevation, climate), 5. Diet and Nutrition (deficiencies, interventions).

 

What time-saving hacks do you have for those who don't have the energy to meal prep in advance?

The prepared food is going to be highly processed, have excess fat and additives to preserve it. It's tricky to not reach for prepared foods, but there are ways to ensure you're preparing a meal that's healthy and quick. Plan for go-to meals that don't require you to think about the ingredients and preparation. Even if you can't meal prep in advance, try to cut up vegetables or do other prep that will save you time later when you're tired. 



LINKS & RESOURCES MENTIONED

In Good Company Blog

https://www.i-g-c.com/blog

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:38:38 <![CDATA[Being A Mother and Physician and Struggling with Mito]]> Wed, 07 Aug 2024 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1790016 https://energy-in-action-by-mitoaction.castos.com/episodes/being-a-mother-and-physician-and-struggling-with-mito ENERGY IN ACTION - EPISODE 115

Being A Mother and Physician and Struggling with Mito

 

Rachel balances caring for herself as a mito patient, but also her two children and for the greater community through the work she does. 

 

EPISODE HIGHLIGHTS

 

What has your diagnostic journey been like?

I was born with mito and my symptoms have remained the same, but I wasn't diagnosed until I was 17 years old. I was diagnosed in 1998 through muscle biopsy with unspecified mitochondrial myopathy and was told that my diagnosis included chronic progressive external ophthalmoplegia (CPEO), the limitation of eye movement and the weakness of the muscles around the eyes. My diagnosis seems to affect my skeletal muscles, but not other organs or smooth muscles. 

 

How is life as a mom and what are your struggles?

Like any other parent, challenges shift as kids grow and change. Early on, I had fears that I couldn't be an adequate mom. I came into motherhood as I came into my career, later than most people because of the fear I had in my ability to do it. As my kids grew, I couldn't lift them and there have been other limitations along the way, depending on the day. Sometimes I still feel the reality of those limitations when they want to be lifted up into a swing or something on the playground. Bathing them is really physical, as is going up and down the stairs carrying things. My strengths come in emotionally when I talk to and play quietly with my kids. In most moments, I feel like a good mom and I'm showing my kids that not everyone has the same capacity. 

 

What do your kids know about your rare disease?

My oldest is 6 years old, so they haven't asked and I haven't explained anything to them directly. I only very recently tried to open a conversation about it with my oldest, but she has really only taken notice that I'm not as strong as her dad. My plan when the time is right is to be fully forthcoming and tell them as much as I know.

 

What inspired your career as a physician and the work you do today?

My dad is a doctor and I've always had similar interests as him. I've remained curious about the science of medicine, but it wasn't easy for me to decide to go to medical school. I moved from primary care to disease investigation, which is a desk job that's better suited to my needs and strengths. I got a lot from my relationships with patients, but I feel fulfilled in the work I'm doing now and I feel a lot of satisfaction and my work is really interesting to me. 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

]]> full 115 false ENERGY IN ACTION - EPISODE 115

Being A Mother and Physician and Struggling with Mito

 

Rachel balances caring for herself as a mito patient, but also her two children and for the greater community through the work she does. 

 

EPISODE HIGHLIGHTS

 

What has your diagnostic journey been like?

I was born with mito and my symptoms have remained the same, but I wasn't diagnosed until I was 17 years old. I was diagnosed in 1998 through muscle biopsy with unspecified mitochondrial myopathy and was told that my diagnosis included chronic progressive external ophthalmoplegia (CPEO), the limitation of eye movement and the weakness of the muscles around the eyes. My diagnosis seems to affect my skeletal muscles, but not other organs or smooth muscles. 

 

How is life as a mom and what are your struggles?

Like any other parent, challenges shift as kids grow and change. Early on, I had fears that I couldn't be an adequate mom. I came into motherhood as I came into my career, later than most people because of the fear I had in my ability to do it. As my kids grew, I couldn't lift them and there have been other limitations along the way, depending on the day. Sometimes I still feel the reality of those limitations when they want to be lifted up into a swing or something on the playground. Bathing them is really physical, as is going up and down the stairs carrying things. My strengths come in emotionally when I talk to and play quietly with my kids. In most moments, I feel like a good mom and I'm showing my kids that not everyone has the same capacity. 

 

What do your kids know about your rare disease?

My oldest is 6 years old, so they haven't asked and I haven't explained anything to them directly. I only very recently tried to open a conversation about it with my oldest, but she has really only taken notice that I'm not as strong as her dad. My plan when the time is right is to be fully forthcoming and tell them as much as I know.

 

What inspired your career as a physician and the work you do today?

My dad is a doctor and I've always had similar interests as him. I've remained curious about the science of medicine, but it wasn't easy for me to decide to go to medical school. I moved from primary care to disease investigation, which is a desk job that's better suited to my needs and strengths. I got a lot from my relationships with patients, but I feel fulfilled in the work I'm doing now and I feel a lot of satisfaction and my work is really interesting to me. 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:35:57 <![CDATA[The Life and Legacy of Liel]]> Wed, 17 Jul 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1786776 https://energy-in-action-by-mitoaction.castos.com/episodes/the-life-and-legacy-of-liel ENERGY IN ACTION - EPISODE 114

The Life and Legacy of Liel

 

Tamar Fenton joins me to share the story of her daughter, Liel. Mitochondrial disease has ravaged her family and while her story may be tough to hear, it's important because the work Tamar has done since Liel's death is incredible and impactful. 

 

EPISODE HIGHLIGHTS

 

Who was Liel?

Liel's life was short, but she accomplished so much and touched so many people in 21 years. She was tiny, only 4'11.5", but mighty. Her hair was beautiful, curly and an unreal color of strawberry blond. She was spunky, tenacious, super opinionated and strong-willed, funny and wise beyond her years. Before she got sick, she was always in motion. She did kickboxing, wrote a book to demystify mental health for children, she did slam poetry competitions, she learned ASL to become a big sister to a deaf child and she once even went undercover for a tobacco program to help prevent the underage sale of tobacco products. She had a large TikTok following and she connected with the younger population, helping them through difficult times and sharing support resources with them. 

 

What was Liel's diagnostic journey like?

At the age of 3, she was getting strep and ear infections that wouldn't clear up and she was diagnosed with immune disorders. As time went on and she grew, she developed other symptoms like gastrointestinal issues, hair loss, gynecological issues, mental health issues and metabolic issues and she received several additional diagnoses. I couldn't help but think that all of the symptoms were on the same trajectory of things happening in her body that suggested her cellular communication wasn't working. Unfortunately, we didn't initially have the support of specialists interested in digging deeper and they suggested that everything pointed to psychological issues. For 18 months, no one would consider any other diagnosis, Liel was treated horribly, and I was accused of having Munchausen by Proxy. The journey was heartbreaking and it broke us. It was only when we went to a private clinic and paid out of pocket, did we get the chance at cellular testing. Testing revealed Liel's mitochondria had no energy. We then did genetic testing and Liel didn't match any known mitochondrial disease. Because she didn't appear to have a genetic disorder, we couldn't be seen at the mitochondrial clinic and we were left with nowhere to turn. Liel went on hospice for the last 7 months of her life and we tried to make the most of time the best we could.

 

Since Liel has passed, what have you been working at?

It was important to Liel that no one else had to suffer the way she did. I promised her that I would tell the whole story. I started writing to all of her doctors and medical institutions to tell them what really happened that wasn't in their records— what happened, how we were treated, tests they didn't order and how Liel died. In some cases, I got a short note back to tell me they were sorry for my loss, they didn't do anything wrong and they wouldn't be meeting with me. I sought out a partnership to help me get Liel's story out and make a change. I found The Patient Revolution, which is an organization that's working to change the industrialized medical system to be kind, careful and provide the time necessary to diagnose and treat patients with empathy. When I told them about Liel, they agreed to help me. I have also recorded videos for a course called Foundations of Care for The Patient Revolution which is offered to doctors and medical providers to learn how to advocate and change the medical system they work in. I'm also speaking at conferences to help spread awareness about the connection between antibiotics and mitochondrial damage. 

 

 

LINKS & RESOURCES MENTIONED

The Times of Israel: Liel and Dora

https://blogs.timesofisrael.com/liel-and-dora/

PB...

]]> full 114 false ENERGY IN ACTION - EPISODE 114

The Life and Legacy of Liel

 

Tamar Fenton joins me to share the story of her daughter, Liel. Mitochondrial disease has ravaged her family and while her story may be tough to hear, it's important because the work Tamar has done since Liel's death is incredible and impactful. 

 

EPISODE HIGHLIGHTS

 

Who was Liel?

Liel's life was short, but she accomplished so much and touched so many people in 21 years. She was tiny, only 4'11.5", but mighty. Her hair was beautiful, curly and an unreal color of strawberry blond. She was spunky, tenacious, super opinionated and strong-willed, funny and wise beyond her years. Before she got sick, she was always in motion. She did kickboxing, wrote a book to demystify mental health for children, she did slam poetry competitions, she learned ASL to become a big sister to a deaf child and she once even went undercover for a tobacco program to help prevent the underage sale of tobacco products. She had a large TikTok following and she connected with the younger population, helping them through difficult times and sharing support resources with them. 

 

What was Liel's diagnostic journey like?

At the age of 3, she was getting strep and ear infections that wouldn't clear up and she was diagnosed with immune disorders. As time went on and she grew, she developed other symptoms like gastrointestinal issues, hair loss, gynecological issues, mental health issues and metabolic issues and she received several additional diagnoses. I couldn't help but think that all of the symptoms were on the same trajectory of things happening in her body that suggested her cellular communication wasn't working. Unfortunately, we didn't initially have the support of specialists interested in digging deeper and they suggested that everything pointed to psychological issues. For 18 months, no one would consider any other diagnosis, Liel was treated horribly, and I was accused of having Munchausen by Proxy. The journey was heartbreaking and it broke us. It was only when we went to a private clinic and paid out of pocket, did we get the chance at cellular testing. Testing revealed Liel's mitochondria had no energy. We then did genetic testing and Liel didn't match any known mitochondrial disease. Because she didn't appear to have a genetic disorder, we couldn't be seen at the mitochondrial clinic and we were left with nowhere to turn. Liel went on hospice for the last 7 months of her life and we tried to make the most of time the best we could.

 

Since Liel has passed, what have you been working at?

It was important to Liel that no one else had to suffer the way she did. I promised her that I would tell the whole story. I started writing to all of her doctors and medical institutions to tell them what really happened that wasn't in their records— what happened, how we were treated, tests they didn't order and how Liel died. In some cases, I got a short note back to tell me they were sorry for my loss, they didn't do anything wrong and they wouldn't be meeting with me. I sought out a partnership to help me get Liel's story out and make a change. I found The Patient Revolution, which is an organization that's working to change the industrialized medical system to be kind, careful and provide the time necessary to diagnose and treat patients with empathy. When I told them about Liel, they agreed to help me. I have also recorded videos for a course called Foundations of Care for The Patient Revolution which is offered to doctors and medical providers to learn how to advocate and change the medical system they work in. I'm also speaking at conferences to help spread awareness about the connection between antibiotics and mitochondrial damage. 

 

 

LINKS & RESOURCES MENTIONED

The Times of Israel: Liel and Dora

https://blogs.timesofisrael.com/liel-and-dora/

PBS News: The Patient Revolution aims to expose healthcare flaws and pave the way for improvement

https://www.pbs.org/newshour/show/the-patient-revolution-aims-to-expose-healthcare-flaws-and-pave-the-way-for-improvement

Tamar Speaking at MAPS 11-30-23

https://vimeo.com/user203746231

The Patient Revolution

https://www.patientrevolution.org/

Foundations of Care Course

https://www.patientrevolution.org/school

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https

://www.linkedin.com/company/mitoaction

 

]]> 00:47:58 <![CDATA[Dr. Vockley's Journey in Mitochondrial Disease Care]]> Wed, 03 Jul 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1778129 https://energy-in-action-by-mitoaction.castos.com/episodes/dr-vockleys-journey-in-mitochondrial-disease-care ENERGY IN ACTION - EPISODE 113

Dr. Vockley's Journey in Mitochondrial Disease Care

 

Dr. Jerry Vockley works everyday in the development and advancement of mitochondrial disease patient care. He is a Cleveland Family Endowed Chair in Pediatric Research, Professor of Pediatrics and Human Genetics, and Director of the Center for Rare Disease Therapy. 

 

EPISODE HIGHLIGHTS

 

What inspired your career in genetics and mitochondrial care?

I stumbled into genetics as an undergraduate and did undergrad research in genetics. My first job was also in genetics. I can't tell you precisely what triggered my interest in genetics, but it layered on and I can't imagine a different career. 

 

What is your research focus and goals for that research?

In clinical and medical genetics when I started in the field, there weren't the diagnostic advances we have now. The biggest advances came with the development of diagnostic technology. My focus is now on additional improvement and changes in technologies that have allowed us to move forward in therapy. Almost everything I do is therapy based. The area I'm excited about is that we're in the process of developing our first gene therapy for a fatty acid oxidation defect and we expect it'll be in clinical trials in a couple years. Fatty oxidation disorders didn't exist when I started my career because we didn't know about them. To go from not knowing about them to being able to cure them is powerful.

 

When you go into the lab and create experiments and conduct research, is it inspired by patients you see?

As an example of why we would do something like that, I once saw a 12 year old girl who had whole body psoriasis and physicians had only ever treated the psoriasis. I recognized that in addition to the rash, she was small for her age, had a small head size and she hadn't started showing any signs of sexual maturity. I suspected her case was more than just a rash and sent samples off to look for defects in steroid metabolism. Testing came back normal and so we went into the lab to look more broadly and identified a chemical that should have been there. We were able to confirm a gene that wasn't working and that led to us determining what the girl had and we were able to establish an effective treatment. 

 

 

LINKS & RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) 

https://informnetwork.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.

linkedin.com/company/mitoaction

 

]]> full 113 false ENERGY IN ACTION - EPISODE 113

Dr. Vockley's Journey in Mitochondrial Disease Care

 

Dr. Jerry Vockley works everyday in the development and advancement of mitochondrial disease patient care. He is a Cleveland Family Endowed Chair in Pediatric Research, Professor of Pediatrics and Human Genetics, and Director of the Center for Rare Disease Therapy. 

 

EPISODE HIGHLIGHTS

 

What inspired your career in genetics and mitochondrial care?

I stumbled into genetics as an undergraduate and did undergrad research in genetics. My first job was also in genetics. I can't tell you precisely what triggered my interest in genetics, but it layered on and I can't imagine a different career. 

 

What is your research focus and goals for that research?

In clinical and medical genetics when I started in the field, there weren't the diagnostic advances we have now. The biggest advances came with the development of diagnostic technology. My focus is now on additional improvement and changes in technologies that have allowed us to move forward in therapy. Almost everything I do is therapy based. The area I'm excited about is that we're in the process of developing our first gene therapy for a fatty acid oxidation defect and we expect it'll be in clinical trials in a couple years. Fatty oxidation disorders didn't exist when I started my career because we didn't know about them. To go from not knowing about them to being able to cure them is powerful.

 

When you go into the lab and create experiments and conduct research, is it inspired by patients you see?

As an example of why we would do something like that, I once saw a 12 year old girl who had whole body psoriasis and physicians had only ever treated the psoriasis. I recognized that in addition to the rash, she was small for her age, had a small head size and she hadn't started showing any signs of sexual maturity. I suspected her case was more than just a rash and sent samples off to look for defects in steroid metabolism. Testing came back normal and so we went into the lab to look more broadly and identified a chemical that should have been there. We were able to confirm a gene that wasn't working and that led to us determining what the girl had and we were able to establish an effective treatment. 

 

 

LINKS & RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) 

https://informnetwork.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.

linkedin.com/company/mitoaction

 

]]> 00:26:03 <![CDATA[Cegat Genetic Opportunities]]> Wed, 19 Jun 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1765565 https://energy-in-action-by-mitoaction.castos.com/episodes/cegat-genetic-opportunities ENERGY IN ACTION - EPISODE 112

CeGaT Genetic Opportunities

 

Eric Miller and Anil Bhardwaj join me from CeGaT, a biotechnology company and world-leader in genetic analyses for a wide range of medical, research and pharmaceutical applications. They offer a lot of resources and ways to improve patient lives in the mito community and they'll highlight those opportunities for us in this episode.

 

EPISODE HIGHLIGHTS

 

What is next generation sequencing?

In terms of analyzing DNA, the process has undergone shifts and is now massive parallel sequencing of the DNA. Various structures of DNA are amplified up to analyze them and make a diagnosis or look at it scientifically and perform research. For someone in genetics, next generation sequencing (NGS) allows stretches of DNA to be massively parallel amplified and see errors that may be causing a disease. 

 

Is there a benefit for patients with a genetic diagnosis to do additional testing?

If you've had genetic testing, it can be beneficial to make sure the lab is re-testing in case of new markers that could be identified as causative, it would be helpful to know.

 

Can patients contact you directly for testing or should they go through their physician?

They can contact us directly and we will direct them through the system to access testing. If you're requesting diagnostic testing, it has to be made by a physician, but we're happy to connect patients to our own in-house physicians to access testing. We will also work directly with a patient's physician and help with access to resources, education and genetic counseling. 

 

What does the testing process look like?

We have a collection kit we make available to collect DNA by blood draw. Once the sample has been received, it will be tested and a report will be generated within a few weeks and returned to the physician. 

 

How do you help patients with family planning?

The family planning panel analyzes all recessive mutations so they can understand any risk of passing on genetic mutations to offspring. This helps to uncover the probabilities of passing on a genetic disease and minimizing risk. 

 

 

LINKS & RESOURCES MENTIONED

How ExomeXtra® Solves Patient Cases: A Four-Year Retrospective

https://cegat.com/about-us/webinars/

CeGaT

https://cegat.com/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

http

s://www.linkedin.com/company/mitoaction

 

]]> full 113 false ENERGY IN ACTION - EPISODE 112

CeGaT Genetic Opportunities

 

Eric Miller and Anil Bhardwaj join me from CeGaT, a biotechnology company and world-leader in genetic analyses for a wide range of medical, research and pharmaceutical applications. They offer a lot of resources and ways to improve patient lives in the mito community and they'll highlight those opportunities for us in this episode.

 

EPISODE HIGHLIGHTS

 

What is next generation sequencing?

In terms of analyzing DNA, the process has undergone shifts and is now massive parallel sequencing of the DNA. Various structures of DNA are amplified up to analyze them and make a diagnosis or look at it scientifically and perform research. For someone in genetics, next generation sequencing (NGS) allows stretches of DNA to be massively parallel amplified and see errors that may be causing a disease. 

 

Is there a benefit for patients with a genetic diagnosis to do additional testing?

If you've had genetic testing, it can be beneficial to make sure the lab is re-testing in case of new markers that could be identified as causative, it would be helpful to know.

 

Can patients contact you directly for testing or should they go through their physician?

They can contact us directly and we will direct them through the system to access testing. If you're requesting diagnostic testing, it has to be made by a physician, but we're happy to connect patients to our own in-house physicians to access testing. We will also work directly with a patient's physician and help with access to resources, education and genetic counseling. 

 

What does the testing process look like?

We have a collection kit we make available to collect DNA by blood draw. Once the sample has been received, it will be tested and a report will be generated within a few weeks and returned to the physician. 

 

How do you help patients with family planning?

The family planning panel analyzes all recessive mutations so they can understand any risk of passing on genetic mutations to offspring. This helps to uncover the probabilities of passing on a genetic disease and minimizing risk. 

 

 

LINKS & RESOURCES MENTIONED

How ExomeXtra® Solves Patient Cases: A Four-Year Retrospective

https://cegat.com/about-us/webinars/

CeGaT

https://cegat.com/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

http

s://www.linkedin.com/company/mitoaction

 

]]> 00:32:51 <![CDATA[Chemistry RX]]> Wed, 05 Jun 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1755664 https://energy-in-action-by-mitoaction.castos.com/episodes/chemistry-rx false 00:34:22 <![CDATA[Mito Artisans]]> Wed, 15 May 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1742870 https://energy-in-action-by-mitoaction.castos.com/episodes/mito-artisans ENERGY IN ACTION - EPISODE 110

MitoArtisian’s

 

Welcome back to our fellow mito warrior, Christine Knox, who's here to talk about a new program she's implementing for MitoAction. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about the program you've started and what inspired it?

I've noticed a lot of programs offered to the mito community are fundraising efforts geared towards people who are sports minded. That's not in my realm of interest, so I decided to offer something artistic because I've been a lifelong artist. I proposed the program to MitoAction and we started MitoArtisan's Playtime. The intention is to have monthly Zoom sessions where an artist will share their work and teach or demonstrate a technique, sharing the dialogue of the artistic journey we all go on through mito. My artwork is my healing place where I can go to escape pain, worries and stress and I think it's important to support other mito artists in their journey as well.

 

What has your career in art been like?

I started drawing at about 10 years old and prior to that was a kid who loved coloring in coloring books. That's where my love of using colored pencils began. Throughout the years, I turned to my artwork as time and energy allowed and I enjoyed exploring new mediums. About six years ago, I started taking commissions, which mostly feature animals.

 

Can someone who doesn't consider themselves an artist get involved with MitoArtisan's?

Definitely, and all ages are welcome! We walk everyone through step-by-step and there will be recordings available. There will be a list of supplies available in advance of sessions, but it's just playing, so you can use whatever materials and supplies you have available. 

 

When will the next session be?

The next session will be in June and we will be drawing a close-up of the human eye. Sessions are about two hours, but the recording will be available to replay if you can't stay for the whole session. 



LINKS & RESOURCES MENTIONED

MitoArtisan’s Playtime

https://www.mitoaction.org/programs-support/mitoaction-programs/mitoartisans-playtime/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 110 false ENERGY IN ACTION - EPISODE 110

MitoArtisian’s

 

Welcome back to our fellow mito warrior, Christine Knox, who's here to talk about a new program she's implementing for MitoAction. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about the program you've started and what inspired it?

I've noticed a lot of programs offered to the mito community are fundraising efforts geared towards people who are sports minded. That's not in my realm of interest, so I decided to offer something artistic because I've been a lifelong artist. I proposed the program to MitoAction and we started MitoArtisan's Playtime. The intention is to have monthly Zoom sessions where an artist will share their work and teach or demonstrate a technique, sharing the dialogue of the artistic journey we all go on through mito. My artwork is my healing place where I can go to escape pain, worries and stress and I think it's important to support other mito artists in their journey as well.

 

What has your career in art been like?

I started drawing at about 10 years old and prior to that was a kid who loved coloring in coloring books. That's where my love of using colored pencils began. Throughout the years, I turned to my artwork as time and energy allowed and I enjoyed exploring new mediums. About six years ago, I started taking commissions, which mostly feature animals.

 

Can someone who doesn't consider themselves an artist get involved with MitoArtisan's?

Definitely, and all ages are welcome! We walk everyone through step-by-step and there will be recordings available. There will be a list of supplies available in advance of sessions, but it's just playing, so you can use whatever materials and supplies you have available. 

 

When will the next session be?

The next session will be in June and we will be drawing a close-up of the human eye. Sessions are about two hours, but the recording will be available to replay if you can't stay for the whole session. 



LINKS & RESOURCES MENTIONED

MitoArtisan’s Playtime

https://www.mitoaction.org/programs-support/mitoaction-programs/mitoartisans-playtime/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:18:50 <![CDATA[Breathtaking]]> Wed, 01 May 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1731137 https://energy-in-action-by-mitoaction.castos.com/episodes/breathtaking ENERGY IN ACTION - EPISODE 109

Breath Taking

 

Jessica Fein is the author of Breath Taking: A Memoir of Family, Dreams, and Broken Genes. She's also an essayist, and advocate, a speaker and the host of the I Don't Know How You Do It podcast, which features guests who triumph over seemingly impossible challenges. Jessica is a working mom of three children and she's a relentless warrior in the memory of her dynamic daughter who she lost to an ultra rare mitochondrial disease, Myoclonic epilepsy with ragged red fibers (MERRF). Her work encompasses hope and humor, gift and grace, the tools that make up her personal survival kit. 

 

EPISODE HIGHLIGHTS

 

What inspired you to write your book?

The first thing I wrote was about my daughter Dalia's diagnosis. I wrote a piece on my computer and I sent it to Huffington Post where it was published as an article and featured on the front page. I loved sharing in that way because so many people could relate. When we were in the hospital, I had a lot of time to write about the experience and one day I started writing more with the intention of publishing a memoir. 

 

How did Dalia's passing affect your other two children and how has being a mother changed for you?

Losing Dalia shifted every single thing in our lives. It was so intense while we were going through it that we didn't realize how our lives were defined by what we were living through, logistically, physically, emotionally and spiritually. Our other children grew up in this intensity. They handled it, reacted to it and dealt with it in different ways from each other and in ways that continue to evolve. My youngest rarely wants to talk about it and our oldest has become an EMT which is in direct response to growing up in and sharing the responsibility of medical care. My children are who they are because of Dalia and my husband and I are also different in so many ways because of Dalia. My children are both so open, compassionate, empathetic and courageous and I know that growing up as Dalia's siblings contributes to those traits. 

 

How are you involved with MitoAction?

I'm proud to be part of MitoAction and the incredibly important impact the organization has. I feel like I was lucky to find MitoAction early in our diagnosis journey. One of the biggest gifts we've received was that since Dalia's passing, the wish trip program was re-named to Dalia's Wish. It's a tremendous program that gives children and families the opportunity to spend a week at Give Kids The World Village and it's the trip of a lifetime. 



LINKS & RESOURCES MENTIONED

Breath Taking: A Memoir of Family, Dreams, and Broken Genes

https://www.jessicafeinstories.com/book

I Don't Know How You Do It Podcast

https://www.jessicafeinstories.com/podcast

Courageous Parents Network

https://courageousparentsnetwork.org/

May 14th Book Talk with Jessica Fein

]]> full 109 false ENERGY IN ACTION - EPISODE 109

Breath Taking

 

Jessica Fein is the author of Breath Taking: A Memoir of Family, Dreams, and Broken Genes. She's also an essayist, and advocate, a speaker and the host of the I Don't Know How You Do It podcast, which features guests who triumph over seemingly impossible challenges. Jessica is a working mom of three children and she's a relentless warrior in the memory of her dynamic daughter who she lost to an ultra rare mitochondrial disease, Myoclonic epilepsy with ragged red fibers (MERRF). Her work encompasses hope and humor, gift and grace, the tools that make up her personal survival kit. 

 

EPISODE HIGHLIGHTS

 

What inspired you to write your book?

The first thing I wrote was about my daughter Dalia's diagnosis. I wrote a piece on my computer and I sent it to Huffington Post where it was published as an article and featured on the front page. I loved sharing in that way because so many people could relate. When we were in the hospital, I had a lot of time to write about the experience and one day I started writing more with the intention of publishing a memoir. 

 

How did Dalia's passing affect your other two children and how has being a mother changed for you?

Losing Dalia shifted every single thing in our lives. It was so intense while we were going through it that we didn't realize how our lives were defined by what we were living through, logistically, physically, emotionally and spiritually. Our other children grew up in this intensity. They handled it, reacted to it and dealt with it in different ways from each other and in ways that continue to evolve. My youngest rarely wants to talk about it and our oldest has become an EMT which is in direct response to growing up in and sharing the responsibility of medical care. My children are who they are because of Dalia and my husband and I are also different in so many ways because of Dalia. My children are both so open, compassionate, empathetic and courageous and I know that growing up as Dalia's siblings contributes to those traits. 

 

How are you involved with MitoAction?

I'm proud to be part of MitoAction and the incredibly important impact the organization has. I feel like I was lucky to find MitoAction early in our diagnosis journey. One of the biggest gifts we've received was that since Dalia's passing, the wish trip program was re-named to Dalia's Wish. It's a tremendous program that gives children and families the opportunity to spend a week at Give Kids The World Village and it's the trip of a lifetime. 



LINKS & RESOURCES MENTIONED

Breath Taking: A Memoir of Family, Dreams, and Broken Genes

https://www.jessicafeinstories.com/book

I Don't Know How You Do It Podcast

https://www.jessicafeinstories.com/podcast

Courageous Parents Network

https://courageousparentsnetwork.org/

May 14th Book Talk with Jessica Fein

https://courageousparentsnetwork.org/events/book-talk-with-jessica-fein-breath-taking-rare-girl-in-a-world-of-love-and-loss

Give Kids The World

https://www.gktw.org/

Dalia’s Wish

https://give.mitoaction.org/campaign/dalias-wish/c186295



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:33:00 <![CDATA[At College with Mitochondrial Disease]]> Wed, 17 Apr 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1721616 https://energy-in-action-by-mitoaction.castos.com/episodes/at-college-with-mitochondrial-disease ENERGY IN ACTION - EPISODE 108

At College with Mitochondrial Disease

 

College can be a challenging and overwhelming experience for any student, but the complexities of mito disease makes college even more challenging. Natalie, Alex and Annie are all college students and they join me, along with the Mito Action CEO, Kira Mann, to talk about their experience and how Mito Action can be helpful to students who have college in their future. 

 

EPISODE HIGHLIGHTS

 

What do you wish you had known in your first year of college that can help students have a successful experience?

Plan, but also know that plans may change, and that's okay because it's part of the learning experience. Disability advocates are a great resource, but you can also advocate for yourself, if you need to attend classes virtually sometimes as an example. Create margin to balance the new responsibilities and life skills so you can manage your mito and energy. There are resources on college campuses, so get to know yours and continue to advocate for yourself while you adjust to your new routine and experience. Advocacy is the number one thing that will support you through college and beyond and it's an important skill to have and utilize. 

 

What is your advice for someone entering college?

Craft your college schedule in a way that works best for you, taking into account when your energy is typically highest, building in breaks and allowing for extra time to travel around campus. As classes become more specialized and more difficult to schedule around what's best for you, prepare yourself the best you can by getting enough sleep and taking care of yourself.

 

What scholarships, support and services can Mito Action provide to college students?

The Matthew Harty Camper scholarship program was established in 2015. The Matthew Harty Camper Fund was established in honor of Matther Harty who had mitochondrial disease and his biggest dream was to go to summer camp, which he had to be eigth years old to attend. Matthew passed away just a few days after his eighth birthday and was never able to go to camp so the program honors him and helps other mito kids fulfill their dreams. To date, we've granted over $200,000 in scholarships to kids looking to pursue higher education. Applications are open through May 2024. We have been building a list of resources, so we can support and guide students and parents through connecting you with other families, resource sharing and support calls. 

 

LINKS & RESOURCES MENTIONED

State Vocational Rehabilitation Agencies

https://rsa.ed.gov/about/states

Matthew Harty Camper Fund Scholarship Application

https://www.mitoaction.org/programs-support/mitoaction-programs/mhcf/scholarship

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.

linkedin.com/company/mitoaction

 

]]> full 108 false ENERGY IN ACTION - EPISODE 108

At College with Mitochondrial Disease

 

College can be a challenging and overwhelming experience for any student, but the complexities of mito disease makes college even more challenging. Natalie, Alex and Annie are all college students and they join me, along with the Mito Action CEO, Kira Mann, to talk about their experience and how Mito Action can be helpful to students who have college in their future. 

 

EPISODE HIGHLIGHTS

 

What do you wish you had known in your first year of college that can help students have a successful experience?

Plan, but also know that plans may change, and that's okay because it's part of the learning experience. Disability advocates are a great resource, but you can also advocate for yourself, if you need to attend classes virtually sometimes as an example. Create margin to balance the new responsibilities and life skills so you can manage your mito and energy. There are resources on college campuses, so get to know yours and continue to advocate for yourself while you adjust to your new routine and experience. Advocacy is the number one thing that will support you through college and beyond and it's an important skill to have and utilize. 

 

What is your advice for someone entering college?

Craft your college schedule in a way that works best for you, taking into account when your energy is typically highest, building in breaks and allowing for extra time to travel around campus. As classes become more specialized and more difficult to schedule around what's best for you, prepare yourself the best you can by getting enough sleep and taking care of yourself.

 

What scholarships, support and services can Mito Action provide to college students?

The Matthew Harty Camper scholarship program was established in 2015. The Matthew Harty Camper Fund was established in honor of Matther Harty who had mitochondrial disease and his biggest dream was to go to summer camp, which he had to be eigth years old to attend. Matthew passed away just a few days after his eighth birthday and was never able to go to camp so the program honors him and helps other mito kids fulfill their dreams. To date, we've granted over $200,000 in scholarships to kids looking to pursue higher education. Applications are open through May 2024. We have been building a list of resources, so we can support and guide students and parents through connecting you with other families, resource sharing and support calls. 

 

LINKS & RESOURCES MENTIONED

State Vocational Rehabilitation Agencies

https://rsa.ed.gov/about/states

Matthew Harty Camper Fund Scholarship Application

https://www.mitoaction.org/programs-support/mitoaction-programs/mhcf/scholarship

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.

linkedin.com/company/mitoaction

 

]]> 00:40:26 <![CDATA[Mo's Personal Journey]]> Wed, 03 Apr 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1710161 https://energy-in-action-by-mitoaction.castos.com/episodes/mos-personal-journey ENERGY IN ACTION - EPISODE 107

Mo's Personal Journey

 

Mo has Maternally Inherited Diabetes and Deafness (MIDD), caused by a mutation in his mitochondrial DNA. Mo is married, in his 30's with two children and he joins me to tell his story and to share his diagnostic journey.

 

EPISODE HIGHLIGHTS

 

Where did your diagnostic journey begin?

I first noticed that I was struggling to hear about the age of 26, and had the standard hearing test done, which revealed significant hearing loss in a high-frequency range. I got hearing aids to help improve my hearing ability. About six months later, I learned my sugar was high at a routine physical and I was prescribed medication for pre-diabetes. I met with a geneticist and an endocrinologist and was later diagnosed with mito 11 years later, which explained the existence of two separate health issues. 

 

How do you deal with hearing loss in your day-to-day?

As advanced as hearing aids are, hearing is always on my mind, from worrying about my batteries lasting to hearing in certain instances. When my wife isn't home, I worry about not hearing my children in another room, especially overnight when I'm not able to hear without my hearing aids.

 

How transparent are you with your children about your diagnosis?

My daughters are 5 and 7 and they know I have challenges, but they're too young to understand all the specifics. I use a CGM, which is a monitor in my arm, and we call it a sugar button. They know that when my sugar is low, my sugar button will beep, and they like to let me know when it sounds. They also know I have a gross medicine, my mito cocktail. And they know about my hearing aids and that if I don't have my ears in, they have to be really loud and talk right into my ear.

 

Are there additional MIDD symptoms that you don't experience?

It's been a challenge to find other people like me. I have connected with people through MitoAction, but I'm the only one with my condition. I haven't had a drastic progression over the years, so it's hard to say what will change in the future. 



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 107 false ENERGY IN ACTION - EPISODE 107

Mo's Personal Journey

 

Mo has Maternally Inherited Diabetes and Deafness (MIDD), caused by a mutation in his mitochondrial DNA. Mo is married, in his 30's with two children and he joins me to tell his story and to share his diagnostic journey.

 

EPISODE HIGHLIGHTS

 

Where did your diagnostic journey begin?

I first noticed that I was struggling to hear about the age of 26, and had the standard hearing test done, which revealed significant hearing loss in a high-frequency range. I got hearing aids to help improve my hearing ability. About six months later, I learned my sugar was high at a routine physical and I was prescribed medication for pre-diabetes. I met with a geneticist and an endocrinologist and was later diagnosed with mito 11 years later, which explained the existence of two separate health issues. 

 

How do you deal with hearing loss in your day-to-day?

As advanced as hearing aids are, hearing is always on my mind, from worrying about my batteries lasting to hearing in certain instances. When my wife isn't home, I worry about not hearing my children in another room, especially overnight when I'm not able to hear without my hearing aids.

 

How transparent are you with your children about your diagnosis?

My daughters are 5 and 7 and they know I have challenges, but they're too young to understand all the specifics. I use a CGM, which is a monitor in my arm, and we call it a sugar button. They know that when my sugar is low, my sugar button will beep, and they like to let me know when it sounds. They also know I have a gross medicine, my mito cocktail. And they know about my hearing aids and that if I don't have my ears in, they have to be really loud and talk right into my ear.

 

Are there additional MIDD symptoms that you don't experience?

It's been a challenge to find other people like me. I have connected with people through MitoAction, but I'm the only one with my condition. I haven't had a drastic progression over the years, so it's hard to say what will change in the future. 



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:23:59 <![CDATA[Angel Flight New England]]> Wed, 27 Mar 2024 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1704064 https://energy-in-action-by-mitoaction.castos.com/episodes/angel-flight-new-england ENERGY IN ACTION - EPISODE 106

Angel Flight New England

 

Kirk Walters and Larry Camerlin of Angel Flight New England are here to share about the organization, how they can assist patients who need to travel for medical care and the other resources they assist with.

 

EPISODE HIGHLIGHTS

 

What is Angel Flight New England's mission?

We are a nonprofit organization with a mission of flying people, free of charge, for medical care. We carry out our mission with the help of 450 volunteer pilots, our commercial airline partners— Jet Blue and Cape Air, dedicated staff and generous donors. Through the support we receive, we ensure no one is deprived of life-saving medical care. We want to be part of the treatment team, bringing people hope, letting them know they're cared for and embraced whether they take one flight or one thousand flights with us. 

 

What if someone is located outside of New England?

We have pilot organizations throughout the United States, so if we can't arrange a flight, we connect with our partners and turn to our other resources. Through a pharmaceutical partner in the rare disease community, we have been able to provide international service. 

 

What resources do people have when they arrive at their destination?

We rely on Earth Angels— our ground crew. Where we already have volunteers available, we arrange for them to meet patients at the airport and drive them to the medical facility. If we don't have a local volunteer available, we will assist them with lining up ground transportation. They can connect with our mission flight coordinators 24 hours a day. 



LINKS & RESOURCES MENTIONED

Call Angel Flight New England

800-549-9980

Angel Flight New England Website

https://www.angelflightne.org/

Volunteer for Angel Flight New England

https://www.angelflightne.org/Volunteer-Opportunities/

Make a donation to Angel Flight New England

https://www.angelflightne.org/give-free-medical-transport/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

]]> false ENERGY IN ACTION - EPISODE 106

Angel Flight New England

 

Kirk Walters and Larry Camerlin of Angel Flight New England are here to share about the organization, how they can assist patients who need to travel for medical care and the other resources they assist with.

 

EPISODE HIGHLIGHTS

 

What is Angel Flight New England's mission?

We are a nonprofit organization with a mission of flying people, free of charge, for medical care. We carry out our mission with the help of 450 volunteer pilots, our commercial airline partners— Jet Blue and Cape Air, dedicated staff and generous donors. Through the support we receive, we ensure no one is deprived of life-saving medical care. We want to be part of the treatment team, bringing people hope, letting them know they're cared for and embraced whether they take one flight or one thousand flights with us. 

 

What if someone is located outside of New England?

We have pilot organizations throughout the United States, so if we can't arrange a flight, we connect with our partners and turn to our other resources. Through a pharmaceutical partner in the rare disease community, we have been able to provide international service. 

 

What resources do people have when they arrive at their destination?

We rely on Earth Angels— our ground crew. Where we already have volunteers available, we arrange for them to meet patients at the airport and drive them to the medical facility. If we don't have a local volunteer available, we will assist them with lining up ground transportation. They can connect with our mission flight coordinators 24 hours a day. 



LINKS & RESOURCES MENTIONED

Call Angel Flight New England

800-549-9980

Angel Flight New England Website

https://www.angelflightne.org/

Volunteer for Angel Flight New England

https://www.angelflightne.org/Volunteer-Opportunities/

Make a donation to Angel Flight New England

https://www.angelflightne.org/give-free-medical-transport/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:31:06 <![CDATA[Medical Marijuana for Mitochindrial Disease]]> Wed, 06 Mar 2024 16:32:22 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1681508 https://energy-in-action-by-mitoaction.castos.com/episodes/medical-marijuana-for-mitochindrial-disease ENERGY IN ACTION - EPISODE 105

Medical Marijuana for Mitochondrial Disease

 

Dr. Fran Kendall is a Clinical Biochemical Geneticist and Founder of VMP Genetics. She is also an Adjunct Assistant Professor at the University of Georgia and authored the book Shades of Grief: Echoes of Hope from the Darkness. Dr. Kendall shares her insight and knowledge on the topic of medical marijuana and how it can be used to aid in medical issues.

 

EPISODE HIGHLIGHTS

What is the history of using medical marijuana?

Marijuana was brought to North America in the early 1600's. Marijuana was known for its medicinal value until 1952 when the government became criminalizing the use of marijuana, resulting in a negative perception of marijuana. In 1996 California legalized the use of medical marijuana and in 2012 Colorado legalized the use of medical and recreational marijuana. More and more states have moved towards legalizing marijuana use, but it remains banned in Wyoming, Kansas, Idaho and South Carolina. The biggest problem we face is, because of criminalization in the past, cannabis is still listed as a schedule 1 substance— a chemical or drug that has no medicinal value, is highly addictive and linked to abuse.

 

What health benefits does marijuana have for mitochondrial disease patients?

Marijuana was first used in the mitochondrial disease community for treating seizures, often having improved control or complete stabilization, allowing patients to reduce anticonvulsant medications, which have a lot of negative side effects. We've seen a reduction of anxiety and depression, improved focus and concentration, and better pain management. 

 

How do you choose what product to use?

In some states, there aren't product options, but other states, like California or Colorado have a lot of options. You will need to educate yourself about different products. You may have to do some level of trial and error to find what works best for you.

 

LINKS & RESOURCES MENTIONED

Shades of Grief: Echoes of Hope from the Darkness

https://rosedogbookstore.com/shades-of-grief-echoes-of-hope-from-the-darkness/

VMP Genetics

https://www.vmpgenetics.com/

Realm of Caring Foundation

https://realmofcaring.org/

Georgia's Hope

https://georgiashope.com/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

]]> false ENERGY IN ACTION - EPISODE 105

Medical Marijuana for Mitochondrial Disease

 

Dr. Fran Kendall is a Clinical Biochemical Geneticist and Founder of VMP Genetics. She is also an Adjunct Assistant Professor at the University of Georgia and authored the book Shades of Grief: Echoes of Hope from the Darkness. Dr. Kendall shares her insight and knowledge on the topic of medical marijuana and how it can be used to aid in medical issues.

 

EPISODE HIGHLIGHTS

What is the history of using medical marijuana?

Marijuana was brought to North America in the early 1600's. Marijuana was known for its medicinal value until 1952 when the government became criminalizing the use of marijuana, resulting in a negative perception of marijuana. In 1996 California legalized the use of medical marijuana and in 2012 Colorado legalized the use of medical and recreational marijuana. More and more states have moved towards legalizing marijuana use, but it remains banned in Wyoming, Kansas, Idaho and South Carolina. The biggest problem we face is, because of criminalization in the past, cannabis is still listed as a schedule 1 substance— a chemical or drug that has no medicinal value, is highly addictive and linked to abuse.

 

What health benefits does marijuana have for mitochondrial disease patients?

Marijuana was first used in the mitochondrial disease community for treating seizures, often having improved control or complete stabilization, allowing patients to reduce anticonvulsant medications, which have a lot of negative side effects. We've seen a reduction of anxiety and depression, improved focus and concentration, and better pain management. 

 

How do you choose what product to use?

In some states, there aren't product options, but other states, like California or Colorado have a lot of options. You will need to educate yourself about different products. You may have to do some level of trial and error to find what works best for you.

 

LINKS & RESOURCES MENTIONED

Shades of Grief: Echoes of Hope from the Darkness

https://rosedogbookstore.com/shades-of-grief-echoes-of-hope-from-the-darkness/

VMP Genetics

https://www.vmpgenetics.com/

Realm of Caring Foundation

https://realmofcaring.org/

Georgia's Hope

https://georgiashope.com/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:28:39 <![CDATA[Courageous Parents Network]]> Wed, 21 Feb 2024 16:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1666465 https://energy-in-action-by-mitoaction.castos.com/episodes/courageous-parents-network ENERGY IN ACTION - EPISODE 104

Courageous Parents Network

 

Blyth Lord and Liz Morris join me from the Courageous Parents Network, an organization that offers a lot of resources for parents and caretakers, from diagnosis to losing a child and every stage in between— it's like a warm hug!

 

EPISODE HIGHLIGHTS

What is Courageous Parents Network (CPN)?

Courageous Parents Network is a national non-profit organization that orients and empowers parents and others caring for children with serious medical conditions, by providing resources and tools that reflect the experience and perspective of other families and clinicians. We do this through producing and curating digital resources, available on our website and through live programming. CPN was inspired through my experience as mother of a child with a rare genetic condition who died shortly after her second birthday. A lot of what informed the creation of CPN was through my lived experience, but everything it has become is because of the network of parents and clinicians who have contributed their experiences and perspectives.

 

Can you share more about CPN's live programming?

We started with only a digital platform of professionally produced videos, audio stories, parent-generated blogs and guides, but we realized the need to bring families together in a live setting. Each live session features a parent and clinician expert who leads a talk on a resonant issue such as supporting siblings, dyadic couples coping and patient decision-making. If you aren't able to join a live event, most recordings are available on our website.

 

Liz, how did you become involved with CPN?

My son Colson was born in 2016 after a normal pregnancy, but shortly after his birth, he had an irregular newborn screening and was having difficulty eating and maintaining his body temperature. He was diagnosed with mitochondrial disease at four months old through genetic testing. His disease progressed rapidly in the first year and my husband and I grappled with what our son's life would look like. When Colson was seven months old, we began palliative care and the palliative care team connected me with CPN. I spent time on the CPN website and felt a sense of hope and I felt validated, knowing I could navigate the uncertain future. 

 

What should people know about palliative care?

A palliative care clinician will provide anticipatory guidance to let caregivers know what the likely experience will be over the trajectory of the illness and provide considerations for care. Palliative care is a system for support, a place to talk about difficult things, a system that allows for choice and comfort management. Palliative care can potentially begin at the time of diagnosis and extend over years, where hospice care is provided at the end of life. 

 

What resources does CPN offer parents who have lost a child?

We have a lot of content for bereaved parents, including interviews with other parents who have lost a child, whether it was sudden or anticipated, where they reflect on before and after their child's passing. We cover topics such as identity as a parent after your child has died, supporting siblings after a child dies and taking care of yourself after your child has died. We also offer a lot of content for parents who are anticipating their child's end of life.

 

 

LINKS & RESOURCES MENTIONED

Courageous parents Network Website

https://courageousparentsnetwork.org/

Join CPN

https://courageousparentsnetwork.org/signup/

NeuroJourney Website

https://neurojourney.courageousparentsnetwork.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

<...]]> full 102 false ENERGY IN ACTION - EPISODE 104

Courageous Parents Network

 

Blyth Lord and Liz Morris join me from the Courageous Parents Network, an organization that offers a lot of resources for parents and caretakers, from diagnosis to losing a child and every stage in between— it's like a warm hug!

 

EPISODE HIGHLIGHTS

What is Courageous Parents Network (CPN)?

Courageous Parents Network is a national non-profit organization that orients and empowers parents and others caring for children with serious medical conditions, by providing resources and tools that reflect the experience and perspective of other families and clinicians. We do this through producing and curating digital resources, available on our website and through live programming. CPN was inspired through my experience as mother of a child with a rare genetic condition who died shortly after her second birthday. A lot of what informed the creation of CPN was through my lived experience, but everything it has become is because of the network of parents and clinicians who have contributed their experiences and perspectives.

 

Can you share more about CPN's live programming?

We started with only a digital platform of professionally produced videos, audio stories, parent-generated blogs and guides, but we realized the need to bring families together in a live setting. Each live session features a parent and clinician expert who leads a talk on a resonant issue such as supporting siblings, dyadic couples coping and patient decision-making. If you aren't able to join a live event, most recordings are available on our website.

 

Liz, how did you become involved with CPN?

My son Colson was born in 2016 after a normal pregnancy, but shortly after his birth, he had an irregular newborn screening and was having difficulty eating and maintaining his body temperature. He was diagnosed with mitochondrial disease at four months old through genetic testing. His disease progressed rapidly in the first year and my husband and I grappled with what our son's life would look like. When Colson was seven months old, we began palliative care and the palliative care team connected me with CPN. I spent time on the CPN website and felt a sense of hope and I felt validated, knowing I could navigate the uncertain future. 

 

What should people know about palliative care?

A palliative care clinician will provide anticipatory guidance to let caregivers know what the likely experience will be over the trajectory of the illness and provide considerations for care. Palliative care is a system for support, a place to talk about difficult things, a system that allows for choice and comfort management. Palliative care can potentially begin at the time of diagnosis and extend over years, where hospice care is provided at the end of life. 

 

What resources does CPN offer parents who have lost a child?

We have a lot of content for bereaved parents, including interviews with other parents who have lost a child, whether it was sudden or anticipated, where they reflect on before and after their child's passing. We cover topics such as identity as a parent after your child has died, supporting siblings after a child dies and taking care of yourself after your child has died. We also offer a lot of content for parents who are anticipating their child's end of life.

 

 

LINKS & RESOURCES MENTIONED

Courageous parents Network Website

https://courageousparentsnetwork.org/

Join CPN

https://courageousparentsnetwork.org/signup/

NeuroJourney Website

https://neurojourney.courageousparentsnetwork.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

htt

ps://www.linkedin.com/company/mitoaction

 

]]> 00:30:39 <![CDATA[Marcy Young - Living with CPEO]]> Sat, 17 Feb 2024 21:30:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1456596 https://energy-in-action-by-mitoaction.castos.com/episodes/marcy-young-living-with-cpeo ENERGY IN ACTION - EPISODE 078

Marcy Young - Living with CPEO

 

Marcie Young is a young adult who is impacted by CPEO and lives near Cleveland, Ohio. 

 

EPISODE HIGHLIGHTS

 

Can you share about your diagnosis journey?

My whole life, my mom seemed off and it continued to get worse as I got older. She was diagnosed with muscular dystrophy, but I felt like more digging needed to be done. When I graduated college, my mom had suffered a lot of physical setbacks, so I met with a neurologist at the Cleveland Clinic and described what my mom was experiencing. I was diagnosed with CPEO and my neurologist worked with my mom's doctor to also match her bloodwork. 

 

As your mom progressed, what did that look like and what were some of the symptoms? 

My mom had a pretty complex case, her eyes didn't move at all- they were completely stationary. She was very fatigued and had difficulty walking. 

 

What was that like for you, knowing the challenges that your mom was facing, and knowing what you would potentially also experience?

It is very hard to not take to heart what a difficult time my mom had, and I was very irritable in my twenties. I had a lot of fear because I had a front seat to what could potentially happen to me. We had beautiful moments in our last couple of years together, but we had some really tough ones. 

 

How do you manage a marriage given the impact that having a rare disease has on a partner?

I'm very lucky to have such an amazing husband. We've made some modifications around our house to help me live more independently, and a lot of those have been his ideas. He's not just my husband, he's my best friend and my teammate in this, and he was with me as my mom had her largest setbacks. 

 

Did your diagnosis play a role in your decision to have kids? 

We met with a specialist who talked to us about an opportunity to take my embryos to a lab and ensure that my child would not have CPEO. We talked a lot about it and we chose not to go in that direction and to have children naturally. Fortunately I was able to carry a child two times. My kids are so young, they have not yet been tested. 

 

Tell us a little bit about what your experience has been with clinical trials?

It's not a question of whether I will or won't participate. The first trial was a shot every day for 14 months until the trial ended, and it was painful. The trial that I'm currently on is three pills a day, so it's not as intrusive. 

 

What would you say to a patient who is hesitant about participating in a clinical?

I would want people to think about it from the opposite direction. If the generation before us were to have had the opportunities to be in these trials, and if they didn't take advantage of it and we're suffering because of a lack of interest from them, let's try to not create that situation for the generation after us. The trials that we're doing right now, depending on your age and symptom severity, could still very well help us. 



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

]]> full 78 false ENERGY IN ACTION - EPISODE 078

Marcy Young - Living with CPEO

 

Marcie Young is a young adult who is impacted by CPEO and lives near Cleveland, Ohio. 

 

EPISODE HIGHLIGHTS

 

Can you share about your diagnosis journey?

My whole life, my mom seemed off and it continued to get worse as I got older. She was diagnosed with muscular dystrophy, but I felt like more digging needed to be done. When I graduated college, my mom had suffered a lot of physical setbacks, so I met with a neurologist at the Cleveland Clinic and described what my mom was experiencing. I was diagnosed with CPEO and my neurologist worked with my mom's doctor to also match her bloodwork. 

 

As your mom progressed, what did that look like and what were some of the symptoms? 

My mom had a pretty complex case, her eyes didn't move at all- they were completely stationary. She was very fatigued and had difficulty walking. 

 

What was that like for you, knowing the challenges that your mom was facing, and knowing what you would potentially also experience?

It is very hard to not take to heart what a difficult time my mom had, and I was very irritable in my twenties. I had a lot of fear because I had a front seat to what could potentially happen to me. We had beautiful moments in our last couple of years together, but we had some really tough ones. 

 

How do you manage a marriage given the impact that having a rare disease has on a partner?

I'm very lucky to have such an amazing husband. We've made some modifications around our house to help me live more independently, and a lot of those have been his ideas. He's not just my husband, he's my best friend and my teammate in this, and he was with me as my mom had her largest setbacks. 

 

Did your diagnosis play a role in your decision to have kids? 

We met with a specialist who talked to us about an opportunity to take my embryos to a lab and ensure that my child would not have CPEO. We talked a lot about it and we chose not to go in that direction and to have children naturally. Fortunately I was able to carry a child two times. My kids are so young, they have not yet been tested. 

 

Tell us a little bit about what your experience has been with clinical trials?

It's not a question of whether I will or won't participate. The first trial was a shot every day for 14 months until the trial ended, and it was painful. The trial that I'm currently on is three pills a day, so it's not as intrusive. 

 

What would you say to a patient who is hesitant about participating in a clinical?

I would want people to think about it from the opposite direction. If the generation before us were to have had the opportunities to be in these trials, and if they didn't take advantage of it and we're suffering because of a lack of interest from them, let's try to not create that situation for the generation after us. The trials that we're doing right now, depending on your age and symptom severity, could still very well help us. 



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:44:22 <![CDATA[Self Care for YOU]]> Wed, 07 Feb 2024 19:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1656230 https://energy-in-action-by-mitoaction.castos.com/episodes/self-care-for-you ENERGY IN ACTION - EPISODE 103

Self Care for YOU

 

Author of After the Shock and International Resilience and Crisis Recovery Speaker, Becky Sansbury, has provided so much support for the rare disease community. She joins the podcast to share her best self-care advice with our listeners. 

 

EPISODE HIGHLIGHTS

 

What inspired the work you do?

Decades ago I was affected by a family crisis and realized I didn't have resilience. I received help along the way and taught me that help is available and that I could help myself. I served as a hospice Chaplain and I realized through that work that quality of life can mean different things, that it's not defined by timeframe, and that it spreads beyond the person who is ill or in crisis, extending to the caregivers. Over the years, that principle has guided my own life. 

 

What are the risks of not practicing self-care?

Not caring for yourself leads to decreased effectiveness, health and damaged relationships. Caregivers are also patients, whether or not you have a diagnosis, when you don't care for yourself, you run the risk of depleting energy, vitality and coping ability. Taking care of yourself is one of the most unselfish thing you can do for yourself and anyone who is depending on you.  

 

Can you introduce your concept of The Four C's of Stability?

Thinking about a car, there are 4 wheels (the four c's) required to move the car down a road. The Four C's of Stability include: comfort, control, community and connection. One of the ways we can feel less overwhelmed is to be aware of when any of your tires may need air. All of the wheels are affected by the components of the other wheels because they roll together.

 

What about your idea for creating a recipe? 

Thinking about a pie, crisis or a chronic condition may prevent you from having the whole pie. But you can break it down, sliver by sliver. The recipe concept says that each sliver is something you can do today to feel comforted, in control, supported by community or connected to resources. While the recipe may change, when you put the concept into practice, it's like a vacation from whatever may be winding you down. 

 

LINKS & RESOURCES MENTIONED

After the Shock

https://www.amazon.com/After-Shock-Getting-Resilience-Crisis/dp/0692447571

CaringBridge

https://www.caringbridge.org/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://w

ww.linkedin.com/company/mitoaction

 

]]> full 103 false ENERGY IN ACTION - EPISODE 103

Self Care for YOU

 

Author of After the Shock and International Resilience and Crisis Recovery Speaker, Becky Sansbury, has provided so much support for the rare disease community. She joins the podcast to share her best self-care advice with our listeners. 

 

EPISODE HIGHLIGHTS

 

What inspired the work you do?

Decades ago I was affected by a family crisis and realized I didn't have resilience. I received help along the way and taught me that help is available and that I could help myself. I served as a hospice Chaplain and I realized through that work that quality of life can mean different things, that it's not defined by timeframe, and that it spreads beyond the person who is ill or in crisis, extending to the caregivers. Over the years, that principle has guided my own life. 

 

What are the risks of not practicing self-care?

Not caring for yourself leads to decreased effectiveness, health and damaged relationships. Caregivers are also patients, whether or not you have a diagnosis, when you don't care for yourself, you run the risk of depleting energy, vitality and coping ability. Taking care of yourself is one of the most unselfish thing you can do for yourself and anyone who is depending on you.  

 

Can you introduce your concept of The Four C's of Stability?

Thinking about a car, there are 4 wheels (the four c's) required to move the car down a road. The Four C's of Stability include: comfort, control, community and connection. One of the ways we can feel less overwhelmed is to be aware of when any of your tires may need air. All of the wheels are affected by the components of the other wheels because they roll together.

 

What about your idea for creating a recipe? 

Thinking about a pie, crisis or a chronic condition may prevent you from having the whole pie. But you can break it down, sliver by sliver. The recipe concept says that each sliver is something you can do today to feel comforted, in control, supported by community or connected to resources. While the recipe may change, when you put the concept into practice, it's like a vacation from whatever may be winding you down. 

 

LINKS & RESOURCES MENTIONED

After the Shock

https://www.amazon.com/After-Shock-Getting-Resilience-Crisis/dp/0692447571

CaringBridge

https://www.caringbridge.org/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://w

ww.linkedin.com/company/mitoaction

 

]]> 00:39:49 <![CDATA[Advocate for YOU]]> Wed, 17 Jan 2024 19:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1633310 https://energy-in-action-by-mitoaction.castos.com/episodes/advocate-for-you ENERGY IN ACTION - EPISODE 102

Advocate for YOU

 

Jen Owen is a mito patient and mito mom, joining me to share her personal journey having mito, about her diagnosis journey, her family and how to best advocate for yourself when you're affected by health issues. 

 

 

EPISODE HIGHLIGHTS

 

Can you share about your mitochondrial disease journey?

I experienced 15 years or more of misdiagnosis of more familiar conditions. Because doctors were treating something I didn't have, I now have other medical issues, like Cushing disease, brought on by the use of steroids. I don't want my kids to go through what I have and fight for the right diagnosis, medical care, medications and treatments they need. When I was diagnosed with mitochondrial disease, my daughter was experiencing parallel symptoms. After a surgery, she had complications from anesthesia and the doctors and I was later hospitalized with elevated lactic acid levels. My daughter also had high lactic acid levels and we realized that what we were experiencing was likely the same cause. 

 

What is the importance of your kids advocating for themselves?

It's important to me that my kids know how to advocate for themselves. I want to instill in my kids that this is a fight they'll have the rest of their lives and they have to advocate for their healthcare and take ownership of their own healthcare and well-being. I also stress the importance of pacing themselves and managing their energy and activities. I try to teach my kids shortcuts in their day-to-day lives because they'll need the knowledge one day and I had to learn some of these things the hard way. 

 

Can you tell us about Buddy Ball?

Our family is passionate about softball and Buddy Ball is a program where kids of any level or disability are able to play on a team. It doesn't matter if the player is in a wheelchair, is on the spectrum, has a j-tube or port, or if they're verbal or non-verbal. Anyone can play and no one is excluded. We play one game a week and we don't keep score. We partner each player with a peer, or buddy, that does anything the player can't do on their own. The kids are amazing and such an inspiration. 

 

 

LINKS & RESOURCES MENTIONED

Bambino Buddy-Ball

https://tshq.bluesombrero.com/Default.aspx?tabid=2748542

Buddy Ball gives kids with disabilities a chance to play ball in Brooksville

https://www.abcactionnews.com/news/region-citrus-hernando/buddy-ball-gives-kids-with-disabilities-a-chance-to-play-ball-in-brooksville

Hernando County's Buddy Ball is one step closer to getting mats for players

https://ca.sports.yahoo.com/video/hernando-countys-buddy-ball-one-231618451.html

Hernando County's Buddy Ball program gets mats to help players

https://www.abcactionnews.com/news/region-citrus-hernando/hernando-countys-buddy-ball-program-gets-mats-to-help-players?fbclid=IwAR1PrPHt5krKD5AgXRmkshV2G40FU1Elzlza6wSA-xgiLirkRROgpojSDY8

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https:

//www.linkedin.com/company/mitoaction

 

]]> full 102 false ENERGY IN ACTION - EPISODE 102

Advocate for YOU

 

Jen Owen is a mito patient and mito mom, joining me to share her personal journey having mito, about her diagnosis journey, her family and how to best advocate for yourself when you're affected by health issues. 

 

 

EPISODE HIGHLIGHTS

 

Can you share about your mitochondrial disease journey?

I experienced 15 years or more of misdiagnosis of more familiar conditions. Because doctors were treating something I didn't have, I now have other medical issues, like Cushing disease, brought on by the use of steroids. I don't want my kids to go through what I have and fight for the right diagnosis, medical care, medications and treatments they need. When I was diagnosed with mitochondrial disease, my daughter was experiencing parallel symptoms. After a surgery, she had complications from anesthesia and the doctors and I was later hospitalized with elevated lactic acid levels. My daughter also had high lactic acid levels and we realized that what we were experiencing was likely the same cause. 

 

What is the importance of your kids advocating for themselves?

It's important to me that my kids know how to advocate for themselves. I want to instill in my kids that this is a fight they'll have the rest of their lives and they have to advocate for their healthcare and take ownership of their own healthcare and well-being. I also stress the importance of pacing themselves and managing their energy and activities. I try to teach my kids shortcuts in their day-to-day lives because they'll need the knowledge one day and I had to learn some of these things the hard way. 

 

Can you tell us about Buddy Ball?

Our family is passionate about softball and Buddy Ball is a program where kids of any level or disability are able to play on a team. It doesn't matter if the player is in a wheelchair, is on the spectrum, has a j-tube or port, or if they're verbal or non-verbal. Anyone can play and no one is excluded. We play one game a week and we don't keep score. We partner each player with a peer, or buddy, that does anything the player can't do on their own. The kids are amazing and such an inspiration. 

 

 

LINKS & RESOURCES MENTIONED

Bambino Buddy-Ball

https://tshq.bluesombrero.com/Default.aspx?tabid=2748542

Buddy Ball gives kids with disabilities a chance to play ball in Brooksville

https://www.abcactionnews.com/news/region-citrus-hernando/buddy-ball-gives-kids-with-disabilities-a-chance-to-play-ball-in-brooksville

Hernando County's Buddy Ball is one step closer to getting mats for players

https://ca.sports.yahoo.com/video/hernando-countys-buddy-ball-one-231618451.html

Hernando County's Buddy Ball program gets mats to help players

https://www.abcactionnews.com/news/region-citrus-hernando/hernando-countys-buddy-ball-program-gets-mats-to-help-players?fbclid=IwAR1PrPHt5krKD5AgXRmkshV2G40FU1Elzlza6wSA-xgiLirkRROgpojSDY8

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https:

//www.linkedin.com/company/mitoaction

 

]]> 00:32:22 <![CDATA[The Passionate Life of Josie]]> Wed, 10 Jan 2024 19:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1630002 https://energy-in-action-by-mitoaction.castos.com/episodes/the-passionate-life-of-josie ENERGY IN ACTION - EPISODE 101

The Passionate Life of Josie

 

Josie van Londen suffers from two interlinked mitochondrial conditions she was diagnosed with as an adult, at the height of her career as an oncologist. Despite her diagnosis and the changes she had to make in her life and career, Josie continues to create meaning in her life in the way she knows best— helping those living and beating cancer.

 

EPISODE HIGHLIGHTS

 

Can you share what your diagnostic journey has been like?

I worked as a medical oncologist, treating and caring for newly diagnosed cancer patients. This was important to me and is still a large part of my identity. Over the years, my stamina was less and less without explanation. My energy was compromised at work and I gave up one thing after another. After Covid, I left the hospital on an accelerated course to a wheelchair. Then I started having trouble breathing, sitting up and talking. I scheduled an appointment with a mitochondrial specialist and I received a diagnosis, which helped me better understand the symptoms I had been experiencing for years.

 

What inspired a career in oncology?

I grew up in the Netherlands and they don't have college there. You go straight into the school of the profession you've chosen when you graduate school. I wanted to be in medicine because I was motivated to understand the body and I wanted to interact with other people. I like mysteries and find the work to be interesting. I appreciate the difference you can make in someone's life. 

 

How did you decide when to leave your job as an oncologist?

I first took a month off to rest, had discussions with my husband and decide for sure if I wanted to go on disability. Resting didn't help and my mito doctor advised me that genetic testing results revealed my symptoms were only going to get worse. I decided to go on disability with the support of my husband. 

 

What work are you doing today?

It was hard to leave my job so abruptly because I didn't have closure with many of my patients. I started looking for new ways that I could be helpful. I volunteer with Cancer Bridges, a facility that supports cancer patients and their families. I also share on my website as I can, writing blogs to empower cancer survivors on their healing journey. and posting on social media. 

 

 

LINKS & RESOURCES MENTIONED

Cancer Survivor MD Website

www.cancersurvivormd.org

CancerSurvivorMD Facebook

https://www.facebook.com/CancerSurvivorMD/

CancerSurvivorMD Instagram

https://www.instagram.com/cancersurvivormd/

CancerSurvivorMD TikTok

https://www.tiktok.com/@cancersurvivormd

CancerSurvivorMD YouTube

https://www.youtube.com/@CancerSurvivorMD

Cancer Bridges

https://cancerbridges.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

 

https://www.linkedin.com/company/mitoaction

 

]]> full 101 false ENERGY IN ACTION - EPISODE 101

The Passionate Life of Josie

 

Josie van Londen suffers from two interlinked mitochondrial conditions she was diagnosed with as an adult, at the height of her career as an oncologist. Despite her diagnosis and the changes she had to make in her life and career, Josie continues to create meaning in her life in the way she knows best— helping those living and beating cancer.

 

EPISODE HIGHLIGHTS

 

Can you share what your diagnostic journey has been like?

I worked as a medical oncologist, treating and caring for newly diagnosed cancer patients. This was important to me and is still a large part of my identity. Over the years, my stamina was less and less without explanation. My energy was compromised at work and I gave up one thing after another. After Covid, I left the hospital on an accelerated course to a wheelchair. Then I started having trouble breathing, sitting up and talking. I scheduled an appointment with a mitochondrial specialist and I received a diagnosis, which helped me better understand the symptoms I had been experiencing for years.

 

What inspired a career in oncology?

I grew up in the Netherlands and they don't have college there. You go straight into the school of the profession you've chosen when you graduate school. I wanted to be in medicine because I was motivated to understand the body and I wanted to interact with other people. I like mysteries and find the work to be interesting. I appreciate the difference you can make in someone's life. 

 

How did you decide when to leave your job as an oncologist?

I first took a month off to rest, had discussions with my husband and decide for sure if I wanted to go on disability. Resting didn't help and my mito doctor advised me that genetic testing results revealed my symptoms were only going to get worse. I decided to go on disability with the support of my husband. 

 

What work are you doing today?

It was hard to leave my job so abruptly because I didn't have closure with many of my patients. I started looking for new ways that I could be helpful. I volunteer with Cancer Bridges, a facility that supports cancer patients and their families. I also share on my website as I can, writing blogs to empower cancer survivors on their healing journey. and posting on social media. 

 

 

LINKS & RESOURCES MENTIONED

Cancer Survivor MD Website

www.cancersurvivormd.org

CancerSurvivorMD Facebook

https://www.facebook.com/CancerSurvivorMD/

CancerSurvivorMD Instagram

https://www.instagram.com/cancersurvivormd/

CancerSurvivorMD TikTok

https://www.tiktok.com/@cancersurvivormd

CancerSurvivorMD YouTube

https://www.youtube.com/@CancerSurvivorMD

Cancer Bridges

https://cancerbridges.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

 

https://www.linkedin.com/company/mitoaction

 

]]> 00:37:32 <![CDATA[LHON Collective]]> Wed, 13 Dec 2023 19:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1614253 https://energy-in-action-by-mitoaction.castos.com/episodes/lhon-collective ENERGY IN ACTION - EPISODE 100

LHON Collective

 

Lissa Poincenoit and Malinda Marsh are the co-founders of the LHON Collective, created to make the diagnostic and treatment process easier for patients and connect them with supportive communities. They are also both mothers to children living with Leber Hereditary Optic Neuropathy (LHON).

 

EPISODE HIGHLIGHTS

 

What is LHON?

Leber Hereditary Optic Neuropathy (LHON) is caused by a mutation in the mitochondrial DNA. Symptoms include sudden, severe, painless loss of central vision, usually first in one eye, then within a few months in the other.  

 

How did the quick decline in your son's vision affect his mental health?

This is a large part of why we created the LHON Collective. My son was devastated after he was diagnosed in college and went through all the stages of grief as he learned to cope. He had to rediscover passions, his career path changed and he got involved instead in inspirational speaking, giving talks to raise awareness and share his story. 

 

Malinda, how has a sudden onset of symptoms affected your kids?

My son finished out the eighth grade advocating for himself with the help and guidance of a teacher for the visually impaired. She consulted his teachers and provided academic support. He took an interest in running, so we found a coach that specialized in visually impaired runners. He joined a run club and this year he has joined the cross-country team as the first visually impaired person in the history of the school, which he's proud of. 

 

Can you tell us about the LHON Collective and your goals for the organization?

LHON Collective is an evolution of the work that's been going on for over 15 years. We intend to work collectively with everyone who has an interest in advancing the treatment of LHON and work globally. Our LHON Facebook groups connect people around the world, sharing important information and empowering them based on where they are demographically or how they are affected. We also host Zoom meetings and conferences to further connect people and drive and advance research forward. 

 

 

LINKS & RESOURCES MENTIONED

LHON Website

https://www.lhon.org/

LHON Communities

https://www.lhon.org/community

RareX Medical Registry

https://rare-x.org/

LHON - Data Collection Program

https://lhon.rare-x.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

htt

ps://www.linkedin.com/company/mitoaction

 

]]> full 100 false ENERGY IN ACTION - EPISODE 100

LHON Collective

 

Lissa Poincenoit and Malinda Marsh are the co-founders of the LHON Collective, created to make the diagnostic and treatment process easier for patients and connect them with supportive communities. They are also both mothers to children living with Leber Hereditary Optic Neuropathy (LHON).

 

EPISODE HIGHLIGHTS

 

What is LHON?

Leber Hereditary Optic Neuropathy (LHON) is caused by a mutation in the mitochondrial DNA. Symptoms include sudden, severe, painless loss of central vision, usually first in one eye, then within a few months in the other.  

 

How did the quick decline in your son's vision affect his mental health?

This is a large part of why we created the LHON Collective. My son was devastated after he was diagnosed in college and went through all the stages of grief as he learned to cope. He had to rediscover passions, his career path changed and he got involved instead in inspirational speaking, giving talks to raise awareness and share his story. 

 

Malinda, how has a sudden onset of symptoms affected your kids?

My son finished out the eighth grade advocating for himself with the help and guidance of a teacher for the visually impaired. She consulted his teachers and provided academic support. He took an interest in running, so we found a coach that specialized in visually impaired runners. He joined a run club and this year he has joined the cross-country team as the first visually impaired person in the history of the school, which he's proud of. 

 

Can you tell us about the LHON Collective and your goals for the organization?

LHON Collective is an evolution of the work that's been going on for over 15 years. We intend to work collectively with everyone who has an interest in advancing the treatment of LHON and work globally. Our LHON Facebook groups connect people around the world, sharing important information and empowering them based on where they are demographically or how they are affected. We also host Zoom meetings and conferences to further connect people and drive and advance research forward. 

 

 

LINKS & RESOURCES MENTIONED

LHON Website

https://www.lhon.org/

LHON Communities

https://www.lhon.org/community

RareX Medical Registry

https://rare-x.org/

LHON - Data Collection Program

https://lhon.rare-x.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

htt

ps://www.linkedin.com/company/mitoaction

 

]]> 00:34:23 <![CDATA[Mito Quilts of Hope]]> Wed, 29 Nov 2023 19:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1604915 https://energy-in-action-by-mitoaction.castos.com/episodes/mito-quilts-of-hope ENERGY IN ACTION - EPISODE 099

Mito Quilts of Hope

 

Christine Knox is a mito patient and the founder of the Mito Quilts of Hope project. 

 

EPISODE HIGHLIGHTS

 

How were you introduced to the mito community?

My parents noticed when I was young that I would fall asleep anywhere, I didn't gain weight easily and I didn't have the same level of energy as other kids. It wasn't until I was an adult that I got sick with the flu and couldn't recover. I saw my doctor, initial testing didn't provide answers, and I was referred to an internal medicine doctor who determined I had mitochondrial disease, later confirmed by genetic testing.

 

What are your biggest day-to-day challenges?

Managing expectations of myself and the reality of what I'm able to do. It's a constant juggling act of what needs to get done, what my energy level will allow, and what I have to give up or what trade-offs need to happen to get things done. 

 

Can you tell us about Mito Quilts of Hope?

To supplement my income as a student, I worked in a flower shop and discovered I loved being creative. Over the years I worked for other florists, learning along the way, and eventually started my own floral company. When I got sick from mitochondrial disease I had to close the business. I missed having the business and missed being creative. Going through my diagnostic journey, I realized so few people knew about mitochondrial disease. I decided to use Mito Awareness month to launch Mito Quilts of Hope to spread comfort and awareness. I started a website and connected with other quilters to help me make quilts for mito patients. Mito Action and Mito Canada help with the postage to distribute the quilts. 

 

How does someone receive a quilt?

Visit my website and register to receive a quilt by answering a few questions. If you're a quilter and you'd like to get involved by making a quilt, you can visit the website to register and all of the quilting information is provided for you online. 

 

CONNECT WITH CHRISTINE

Email: christineknox0@gmail.com or christine@mitoquiltsofhope.org

Mito Quilts of Hope on Facebook

https://www.facebook.com/quilthope

 

LINKS & RESOURCES MENTIONED

Mito Quilts of Hope Website

https://www.mitoquiltsofhope.org/

Register to Receive a Quilt

https://www.mitoquiltsofhope.org/receive-a-quilt

Register to Make a Quilt

https://www.mitoquiltsofhope.org/create-a-quilt

MitoCanada 

https://mitocanada.org/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

 

https://www.linkedin.com/company/mitoaction

 

]]> full 99 false ENERGY IN ACTION - EPISODE 099

Mito Quilts of Hope

 

Christine Knox is a mito patient and the founder of the Mito Quilts of Hope project. 

 

EPISODE HIGHLIGHTS

 

How were you introduced to the mito community?

My parents noticed when I was young that I would fall asleep anywhere, I didn't gain weight easily and I didn't have the same level of energy as other kids. It wasn't until I was an adult that I got sick with the flu and couldn't recover. I saw my doctor, initial testing didn't provide answers, and I was referred to an internal medicine doctor who determined I had mitochondrial disease, later confirmed by genetic testing.

 

What are your biggest day-to-day challenges?

Managing expectations of myself and the reality of what I'm able to do. It's a constant juggling act of what needs to get done, what my energy level will allow, and what I have to give up or what trade-offs need to happen to get things done. 

 

Can you tell us about Mito Quilts of Hope?

To supplement my income as a student, I worked in a flower shop and discovered I loved being creative. Over the years I worked for other florists, learning along the way, and eventually started my own floral company. When I got sick from mitochondrial disease I had to close the business. I missed having the business and missed being creative. Going through my diagnostic journey, I realized so few people knew about mitochondrial disease. I decided to use Mito Awareness month to launch Mito Quilts of Hope to spread comfort and awareness. I started a website and connected with other quilters to help me make quilts for mito patients. Mito Action and Mito Canada help with the postage to distribute the quilts. 

 

How does someone receive a quilt?

Visit my website and register to receive a quilt by answering a few questions. If you're a quilter and you'd like to get involved by making a quilt, you can visit the website to register and all of the quilting information is provided for you online. 

 

CONNECT WITH CHRISTINE

Email: christineknox0@gmail.com or christine@mitoquiltsofhope.org

Mito Quilts of Hope on Facebook

https://www.facebook.com/quilthope

 

LINKS & RESOURCES MENTIONED

Mito Quilts of Hope Website

https://www.mitoquiltsofhope.org/

Register to Receive a Quilt

https://www.mitoquiltsofhope.org/receive-a-quilt

Register to Make a Quilt

https://www.mitoquiltsofhope.org/create-a-quilt

MitoCanada 

https://mitocanada.org/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

 

https://www.linkedin.com/company/mitoaction

 

]]> 00:37:06 <![CDATA[Introducing Positively Walking with Mito Podcast]]> Wed, 15 Nov 2023 16:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1596882 https://energy-in-action-by-mitoaction.castos.com/episodes/introducing-positively-walking-with-mito-podcast ENERGY IN ACTION - EPISODE 098

Introducing Positively Walking with Mito Podcast

 

Jenevieve Woods and Alexandra Salser join me to share their stories and share about a special positivity project they're doing for the benefit of the mito community. 

 

EPISODE HIGHLIGHTS

 

Jenevieve, can you tell us about yourself?

I have mitochondrial neuropathy ATP deletion with symptoms such as muscle weakness, neuropathy, ataxia and damaged nerves and muscles. My kind of mitochondrial disease affects every cell in my body, so every organ, muscle movement and feeling I experience are in some way affected. Like most members of the mitochondrial community, I also have issues with energy levels. 

 

Alexandra, can you tell us about yourself?

I am a college student living with LCHAD, a fatty acid oxidation disorder, which means I don't break down fat to use for energy. I've known about my diagnosis my whole life, so it's been part of every season and every up and down. When it comes to managing my LCHAD as a college student, I work with my body and rest often. I've been given a voice and a story and it's something I enjoy sharing with people. 

 

How did you meet?

We connected online initially, fell out of touch and then we were re-introduced through a mutual MitoAction contact. We reconnected and through conversations about our struggles, we came up with an idea to do a positivity project together. 

 

What is the positivity project you're working on together?

We will be starting a podcast called Positively Walking with Mito, which is about positivity first and mito second. We want to lead with positivity despite what we're going through. The forum will be loose and we'll let our personality and chemistry lead. We may also do interviews in the future. We will also have a video element on YouTube.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 98 false ENERGY IN ACTION - EPISODE 098

Introducing Positively Walking with Mito Podcast

 

Jenevieve Woods and Alexandra Salser join me to share their stories and share about a special positivity project they're doing for the benefit of the mito community. 

 

EPISODE HIGHLIGHTS

 

Jenevieve, can you tell us about yourself?

I have mitochondrial neuropathy ATP deletion with symptoms such as muscle weakness, neuropathy, ataxia and damaged nerves and muscles. My kind of mitochondrial disease affects every cell in my body, so every organ, muscle movement and feeling I experience are in some way affected. Like most members of the mitochondrial community, I also have issues with energy levels. 

 

Alexandra, can you tell us about yourself?

I am a college student living with LCHAD, a fatty acid oxidation disorder, which means I don't break down fat to use for energy. I've known about my diagnosis my whole life, so it's been part of every season and every up and down. When it comes to managing my LCHAD as a college student, I work with my body and rest often. I've been given a voice and a story and it's something I enjoy sharing with people. 

 

How did you meet?

We connected online initially, fell out of touch and then we were re-introduced through a mutual MitoAction contact. We reconnected and through conversations about our struggles, we came up with an idea to do a positivity project together. 

 

What is the positivity project you're working on together?

We will be starting a podcast called Positively Walking with Mito, which is about positivity first and mito second. We want to lead with positivity despite what we're going through. The forum will be loose and we'll let our personality and chemistry lead. We may also do interviews in the future. We will also have a video element on YouTube.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:25:58 <![CDATA[Champs Foundation]]> Wed, 11 Oct 2023 14:55:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1571688 https://energy-in-action-by-mitoaction.castos.com/episodes/champs-foundation ENERGY IN ACTION - EPISODE 097

Champs Foundation

 

Elizabeth Reynolds is a mom of three children and her oldest, William, has Pearson syndrome, a multi-system disease caused by a deletion in mitochondrial DNA. She is also the Founder of The Champ Foundation, which supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.

 

EPISODE HIGHLIGHTS

 

How do you keep appointments and records organized and what advice do you have for other parents to stay organized?

It’s a learning process. I have done a lot of note-taking and documenting to learn how to stay organized. I've found a routine and a method that works to stay organized and to effectively coordinate and communicate with William's physician care team. You can create a document for yourself to refer to and have doctors sign off on your document at appointments to serve as an extra layer of organizing and validating information.

 

Can you tell us about the foundation you started?

A few weeks after William was diagnosed, we started the foundation with the immediate realization that there wasn't a treatment or cure for Pearson syndrome. We also found there wasn't funding or research focused on Pearson syndrome and we felt we needed to start the foundation with an exclusive focus on our rare, mitochondrial deletion disorder specifically. Our primary goal was fundraising and in 2019 we were awarded the Chan Zuckerberg Rare As One grant, which helped us transform our purpose and goal of funding academic institution research, but also to help other families. We started the Champ Foundation Registry, funded a biorepository at Boston Children's Hospital and a multi-site natural history study to better understand the trajectory of the disorders.

 

What are the goals for the foundation over the coming years?

Our goal is to use the information gathered from the registry and family surveys to show the FDA and other agencies that we are learning outcomes and that clinical trials should be targeted for KSS and Pearson syndrome. 

 

How can a family with a new diagnosis get involved with The Champ Foundation?

Lots of families are introduced to us right after receiving a diagnosis, so we have a checklist with a step-by-step process of what to do available on our website. We also recommend families get involved in research, participating in our registry and natural history study. Our foundation can assist with travel costs to participate in the natural history study if that's a barrier for a family. 

 

LINKS & RESOURCES MENTIONED

Champ Foundation Registry

https://www.thechampfoundation.org/registry.html

Newly Diagnosed Checklist

https://www.thechampfoundation.org/newly-diagnosed.html

Email Elizabeth

elizabeth.reynolds@thechampfoundation.org

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https:

//www.linkedin.com/company/mitoaction

 

]]> full 97 false ENERGY IN ACTION - EPISODE 097

Champs Foundation

 

Elizabeth Reynolds is a mom of three children and her oldest, William, has Pearson syndrome, a multi-system disease caused by a deletion in mitochondrial DNA. She is also the Founder of The Champ Foundation, which supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.

 

EPISODE HIGHLIGHTS

 

How do you keep appointments and records organized and what advice do you have for other parents to stay organized?

It’s a learning process. I have done a lot of note-taking and documenting to learn how to stay organized. I've found a routine and a method that works to stay organized and to effectively coordinate and communicate with William's physician care team. You can create a document for yourself to refer to and have doctors sign off on your document at appointments to serve as an extra layer of organizing and validating information.

 

Can you tell us about the foundation you started?

A few weeks after William was diagnosed, we started the foundation with the immediate realization that there wasn't a treatment or cure for Pearson syndrome. We also found there wasn't funding or research focused on Pearson syndrome and we felt we needed to start the foundation with an exclusive focus on our rare, mitochondrial deletion disorder specifically. Our primary goal was fundraising and in 2019 we were awarded the Chan Zuckerberg Rare As One grant, which helped us transform our purpose and goal of funding academic institution research, but also to help other families. We started the Champ Foundation Registry, funded a biorepository at Boston Children's Hospital and a multi-site natural history study to better understand the trajectory of the disorders.

 

What are the goals for the foundation over the coming years?

Our goal is to use the information gathered from the registry and family surveys to show the FDA and other agencies that we are learning outcomes and that clinical trials should be targeted for KSS and Pearson syndrome. 

 

How can a family with a new diagnosis get involved with The Champ Foundation?

Lots of families are introduced to us right after receiving a diagnosis, so we have a checklist with a step-by-step process of what to do available on our website. We also recommend families get involved in research, participating in our registry and natural history study. Our foundation can assist with travel costs to participate in the natural history study if that's a barrier for a family. 

 

LINKS & RESOURCES MENTIONED

Champ Foundation Registry

https://www.thechampfoundation.org/registry.html

Newly Diagnosed Checklist

https://www.thechampfoundation.org/newly-diagnosed.html

Email Elizabeth

elizabeth.reynolds@thechampfoundation.org

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https:

//www.linkedin.com/company/mitoaction

 

]]> 00:33:09 <![CDATA[Employed with Mito Disease]]> Wed, 04 Oct 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1568266 https://energy-in-action-by-mitoaction.castos.com/episodes/employed-with-mito-disease ENERGY IN ACTION - EPISODE 096

Employed with Mito Disease

 

Bill, Tasia and Nina are all mito warriors navigating employment despite the challenges of the disease. We're having a discussion of how they adjust their work lives to ensure they're not pushing themselves beyond their limits and also caring for themselves. 

 

 

EPISODE HIGHLIGHTS

 

Tasia, can you tell us about yourself and the work you do?

I'm 31 and I was diagnosed at a young age with fatty oxidation disorder. As a teen I started a clinical trial until it became an FDA-approved medication and it worked well for me. I went to business school and I currently work in research and development as a government contractor. I have a typical desk job that suits my needs. My employer has remained flexible for me to attend appointments and otherwise manage my health. 

 

Bill, can you tell us about yourself and the work you do?

I live in Alaska and I have a pathogenic mutation but no final diagnosis yet. I've gone through a lot of genetic testing that revealed my genetic mutation. I work as a commercial diver and I work on bridges, dams, oil platforms and in heavy construction. It's all very physically-exerting work. I've been doing this work for 25 years, but with the health changes I've experienced, I've had to stop going on jobs and in the water. This accelerated my move into an office role and my employer has made a lot of accommodations for me. 

 

Nina, can you tell us about yourself and the work you do?

I'm from Florida and about two years ago, I had a sudden onset of symptoms after taking a medication and it took over a year to be diagnosed with POLG2 which is a chronic and progressive condition. I'm currently working part time as a customer service representative and I'm able to work from home. I'm finding it's increasingly difficult to talk and type simultaneously, so I'm working with a vocational rehabilitation program to transition to a more behind-the-scenes role that will better support my health and needs. 

 

Bill, do you feel like fatigue caused by stress affects you more by the end of the day?

This has been a struggle for me. To some degree, the demands of an office role are more taxing than a physical role. If I use all my energy at work, I'm affected when I go home because I don't have the energy to do tasks at home. Managing stress and trying not to give everything to my work is a constant balancing act. 

 

Tasia, do you feel any guilt about not being able to produce as much or perform as well at work?

 

I feel the need to compensate when I'm feeling well, going the extra mile. The next week, I may be functioning at only 75%. I think it's common to feel the need to do more when you can to make up for when you're lacking. I've learned I can't say yes to everything and I need to find balance in the workplace, not allowing my urge to over-compensate get me in trouble. 

 

Nina, have you had any difficult discussions about mitochondrial disease with your boss?

I've had a few awkward conversations with employers. I think it's difficult to talk about mitochondrial disease and the impact it has on you because it can be an invisible illness. There's also restrictions about what you can and can't share about accommodations. 

 

What advice do you have for young people at the beginning of their career who will need to navigate the demands of the workforce and their health and wellbeing but want to grow professionally?

Widen your possibilities so you can work in a field that interests you, but has a lot of variety in the job options. Understand you're an asset, not a burden. Don't be afraid to ask for what you need to perform your job. Explore alternate ways to partake in your interests, even if you can't do it full time as a job. Learn about what employers can and can't ask...

]]> full 96 false ENERGY IN ACTION - EPISODE 096

Employed with Mito Disease

 

Bill, Tasia and Nina are all mito warriors navigating employment despite the challenges of the disease. We're having a discussion of how they adjust their work lives to ensure they're not pushing themselves beyond their limits and also caring for themselves. 

 

 

EPISODE HIGHLIGHTS

 

Tasia, can you tell us about yourself and the work you do?

I'm 31 and I was diagnosed at a young age with fatty oxidation disorder. As a teen I started a clinical trial until it became an FDA-approved medication and it worked well for me. I went to business school and I currently work in research and development as a government contractor. I have a typical desk job that suits my needs. My employer has remained flexible for me to attend appointments and otherwise manage my health. 

 

Bill, can you tell us about yourself and the work you do?

I live in Alaska and I have a pathogenic mutation but no final diagnosis yet. I've gone through a lot of genetic testing that revealed my genetic mutation. I work as a commercial diver and I work on bridges, dams, oil platforms and in heavy construction. It's all very physically-exerting work. I've been doing this work for 25 years, but with the health changes I've experienced, I've had to stop going on jobs and in the water. This accelerated my move into an office role and my employer has made a lot of accommodations for me. 

 

Nina, can you tell us about yourself and the work you do?

I'm from Florida and about two years ago, I had a sudden onset of symptoms after taking a medication and it took over a year to be diagnosed with POLG2 which is a chronic and progressive condition. I'm currently working part time as a customer service representative and I'm able to work from home. I'm finding it's increasingly difficult to talk and type simultaneously, so I'm working with a vocational rehabilitation program to transition to a more behind-the-scenes role that will better support my health and needs. 

 

Bill, do you feel like fatigue caused by stress affects you more by the end of the day?

This has been a struggle for me. To some degree, the demands of an office role are more taxing than a physical role. If I use all my energy at work, I'm affected when I go home because I don't have the energy to do tasks at home. Managing stress and trying not to give everything to my work is a constant balancing act. 

 

Tasia, do you feel any guilt about not being able to produce as much or perform as well at work?

 

I feel the need to compensate when I'm feeling well, going the extra mile. The next week, I may be functioning at only 75%. I think it's common to feel the need to do more when you can to make up for when you're lacking. I've learned I can't say yes to everything and I need to find balance in the workplace, not allowing my urge to over-compensate get me in trouble. 

 

Nina, have you had any difficult discussions about mitochondrial disease with your boss?

I've had a few awkward conversations with employers. I think it's difficult to talk about mitochondrial disease and the impact it has on you because it can be an invisible illness. There's also restrictions about what you can and can't share about accommodations. 

 

What advice do you have for young people at the beginning of their career who will need to navigate the demands of the workforce and their health and wellbeing but want to grow professionally?

Widen your possibilities so you can work in a field that interests you, but has a lot of variety in the job options. Understand you're an asset, not a burden. Don't be afraid to ask for what you need to perform your job. Explore alternate ways to partake in your interests, even if you can't do it full time as a job. Learn about what employers can and can't ask and what they do and don't have to offer in terms of accommodations so you can advocate for yourself. 

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

htt

ps://www.linkedin.com/company/mitoaction

 

]]> 00:45:55 <![CDATA[Mito Awareness Week and Parent Stories from the FAOD Community - Live from the IMC]]> Wed, 20 Sep 2023 15:34:40 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1559746 https://energy-in-action-by-mitoaction.castos.com/episodes/mito-awareness-week-and-parent-stories-from-the-faod-community-live-from-the-imc full 94 false 00:34:15 <![CDATA[Barth Syndrome - When the Lack of Fair, Equitable and Appropriate Regulatory Review Process Jeopardizes Ultra-Rare Drug Development]]> Wed, 13 Sep 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1552950 https://energy-in-action-by-mitoaction.castos.com/episodes/barth-syndrome-when-the-lack-of-fair-equitable-and-appropriate-regulatory-review-process-jeopardizes-ultra-rare-drug-development ENERGY IN ACTION - EPISODE 094

Barth Syndrome - When the Lack of Fair, Equitable and Appropriate Regulatory Review Process Jeopardizes Ultra-Rare Drug Development

 

Barth Syndrome Foundation Executive Director Emily Milligan, and Director of Family Services & Advocacy, Shelley Bowen join me for a discussion about the latest news surrounding the foundation’s treatment efforts and the families affected by Barth Syndrome. Listeners can help pave the way for future rare and ultra-rare drug development by signing their petition to the FDA and speaking out to local representatives.

 

EPISODE HIGHLIGHTS

 

What is Barth Syndrome?

It's a rare disease, affecting mostly males, that affects about one of a million individuals. We currently have about 130 people in the United States who have been diagnosed. The symptoms include cardiomyopathy, Neutropenia, low muscle mass and muscle weakness, exercise intolerance and feeding problems. Barth Syndrome is often fatal and there aren't currently any cures for the rare disorder. 

 

Have there been any recent advancements in treatments for Barth Syndrome?

There are no FDA-approved therapies for Barth Syndrome. The latest stage development opportunity we have is a drug called Elamipretide. We've been working on this effort for years and we're hoping the FDA will accept a new drug application for this product.

 

What benefits does Elamipretide offer Barth Syndrome patients?

One of the greatest burdens that affects quality of life is overwhelming fatigue. With this drug, we've seen real-world evidence that patients are feeling better and are able to enjoy life with improved energy. We've also seen improved cardiac function. 

 

What determines one research-based drug passing through regulators and one drug not?

There's a lot of inconsistency around drugs being reviewed at the FDA and it's frustrating. We have done a lot of work to help the FDA to recognize and appreciate the nuances of the Barth Syndrome community and how ultra-rare it is. Unfortunately, the FDA is asking us to find more patients, but by the definition of ultra-rare, there are no more patients. We are asking for a fair, equitable and fair review by the FDA-- for them to look at the open-label extension data, the natural history comparison data and listen to the patient perspectives which will substantiate real-world claims and results. While the FDA has regulatory flexibility, smaller populations can't conform to the same regulation standards as larger populations. 



LINKS AND RESOURCES MENTIONED

Barth Syndrome Foundation

https://www.barthsyndrome.org/welcome.html

Sign the BSF petition for a fair, equitable and appropriate review of elamipretide in Barth syndrome by the FDA!

 

CONNECT WITH MITOAC...

]]> full 94 false ENERGY IN ACTION - EPISODE 094

Barth Syndrome - When the Lack of Fair, Equitable and Appropriate Regulatory Review Process Jeopardizes Ultra-Rare Drug Development

 

Barth Syndrome Foundation Executive Director Emily Milligan, and Director of Family Services & Advocacy, Shelley Bowen join me for a discussion about the latest news surrounding the foundation’s treatment efforts and the families affected by Barth Syndrome. Listeners can help pave the way for future rare and ultra-rare drug development by signing their petition to the FDA and speaking out to local representatives.

 

EPISODE HIGHLIGHTS

 

What is Barth Syndrome?

It's a rare disease, affecting mostly males, that affects about one of a million individuals. We currently have about 130 people in the United States who have been diagnosed. The symptoms include cardiomyopathy, Neutropenia, low muscle mass and muscle weakness, exercise intolerance and feeding problems. Barth Syndrome is often fatal and there aren't currently any cures for the rare disorder. 

 

Have there been any recent advancements in treatments for Barth Syndrome?

There are no FDA-approved therapies for Barth Syndrome. The latest stage development opportunity we have is a drug called Elamipretide. We've been working on this effort for years and we're hoping the FDA will accept a new drug application for this product.

 

What benefits does Elamipretide offer Barth Syndrome patients?

One of the greatest burdens that affects quality of life is overwhelming fatigue. With this drug, we've seen real-world evidence that patients are feeling better and are able to enjoy life with improved energy. We've also seen improved cardiac function. 

 

What determines one research-based drug passing through regulators and one drug not?

There's a lot of inconsistency around drugs being reviewed at the FDA and it's frustrating. We have done a lot of work to help the FDA to recognize and appreciate the nuances of the Barth Syndrome community and how ultra-rare it is. Unfortunately, the FDA is asking us to find more patients, but by the definition of ultra-rare, there are no more patients. We are asking for a fair, equitable and fair review by the FDA-- for them to look at the open-label extension data, the natural history comparison data and listen to the patient perspectives which will substantiate real-world claims and results. While the FDA has regulatory flexibility, smaller populations can't conform to the same regulation standards as larger populations. 



LINKS AND RESOURCES MENTIONED

Barth Syndrome Foundation

https://www.barthsyndrome.org/welcome.html

Sign the BSF petition for a fair, equitable and appropriate review of elamipretide in Barth syndrome by the FDA!

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:25:33 <![CDATA[Navigating School for Our Kiddos]]> Wed, 06 Sep 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1548970 https://energy-in-action-by-mitoaction.castos.com/episodes/navigating-school-for-our-kiddos ENERGY IN ACTION - EPISODE 093

Navigating School for Our Kiddos

 

Beth Folcher is a parent and teacher. She joins us to kick off the school year with tips for parents of children with mitochondrial conditions so that we can be the best-informed advocates for our children. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about your son and your experience with rare disease?

My son was born in 2005 and was flagged at newborn screening for having long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). As a teacher and having experience with children who have complex medical conditions, I knew my son's diagnosis may impact his learning. My son doesn't have a learning deficiency, so he has remained in a typical classroom with some special accommodations. He's now going into his junior year of high school.

 

What should parents be thinking about going into the school year?

If you have a child with a complex medical condition or diagnosis, get your documentation in place, contact the school and ask for a meeting to set up an IEP and/or 504 plan. An Individualized Education Plan (IEP) covers specialized instructions for students with a learning disability can make progress in the classroom. A 504 is a section of the rehabilitation act of 1973 which describes support guidelines for children with a physical or mental impairment. Both an IEP and a 504 plan are legally binding and must be followed by the school district. If your child needs an IEP, it is written first and the 504 plan is written within the IEP. 

 

What do parents need to do throughout the year to maintain plan guidelines?

The most important thing is respectful, open communication and partnership between teachers and parents. In elementary school, there are more special snacks, birthday celebrations and field trips that need to be handled. When your child is younger and can't advocate for themselves, there are no stupid questions, so don't be afraid to reach out to teachers and school staff to ask. Give teachers some grace because when the school year begins, they are taking a lot in, learning a lot about each child and building relationships.

 

How can you best prepare a child who may need a school accommodation?

Prepare them to ask questions, communicate their needs and ask for help when they need it. To help them learn to advocate for themselves, you can place a sticker on their ID card that identifies they have an IEP or 504. You can arrange for a signal to communicate to the teachers when something is wrong. Involve your child in school meetings and discussions so they can be part of the discussions and understand the support and accommodations they have.

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.li

nkedin.com/company/mitoaction

 

]]> full 93 false ENERGY IN ACTION - EPISODE 093

Navigating School for Our Kiddos

 

Beth Folcher is a parent and teacher. She joins us to kick off the school year with tips for parents of children with mitochondrial conditions so that we can be the best-informed advocates for our children. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about your son and your experience with rare disease?

My son was born in 2005 and was flagged at newborn screening for having long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). As a teacher and having experience with children who have complex medical conditions, I knew my son's diagnosis may impact his learning. My son doesn't have a learning deficiency, so he has remained in a typical classroom with some special accommodations. He's now going into his junior year of high school.

 

What should parents be thinking about going into the school year?

If you have a child with a complex medical condition or diagnosis, get your documentation in place, contact the school and ask for a meeting to set up an IEP and/or 504 plan. An Individualized Education Plan (IEP) covers specialized instructions for students with a learning disability can make progress in the classroom. A 504 is a section of the rehabilitation act of 1973 which describes support guidelines for children with a physical or mental impairment. Both an IEP and a 504 plan are legally binding and must be followed by the school district. If your child needs an IEP, it is written first and the 504 plan is written within the IEP. 

 

What do parents need to do throughout the year to maintain plan guidelines?

The most important thing is respectful, open communication and partnership between teachers and parents. In elementary school, there are more special snacks, birthday celebrations and field trips that need to be handled. When your child is younger and can't advocate for themselves, there are no stupid questions, so don't be afraid to reach out to teachers and school staff to ask. Give teachers some grace because when the school year begins, they are taking a lot in, learning a lot about each child and building relationships.

 

How can you best prepare a child who may need a school accommodation?

Prepare them to ask questions, communicate their needs and ask for help when they need it. To help them learn to advocate for themselves, you can place a sticker on their ID card that identifies they have an IEP or 504. You can arrange for a signal to communicate to the teachers when something is wrong. Involve your child in school meetings and discussions so they can be part of the discussions and understand the support and accommodations they have.

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.li

nkedin.com/company/mitoaction

 

]]> 00:30:02 <![CDATA[Patient Stories from the FAOD Community - Live from the IMC]]> Thu, 17 Aug 2023 03:38:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1537457 https://energy-in-action-by-mitoaction.castos.com/episodes/patient-stories-from-the-faod-community-live-from-the-imc  

PARENTS AS RARE - EPISODE 092

Patient Stories from the FAOD Community - Live from the IMC

 

I encouraged the FAOD community attending the 2023 Metobolic Conference in Denver, CO to share their stories with me. This is a special, live-recorded episode that features patient stories that paint a beautiful picture of what their journeys have been like and the importance of community.

 

EPISODE HIGHLIGHTS

 

Karen Richtman

This is my first time attending this conference and I have felt so embraced. I have learned more information about my diagnosis than anyone has ever provided me. I feel so connected to this community and it's truly powerful. 

 

Sylvia Hood-Washington

I am an Environmental Epidemiologist & Historian of Science, Technology, Environment and Medicine, and I am an FOAD patient with Carnitine palmitoyltransferase II (CPT II) deficiency. This is my first conference and I have come here as a 64-year old African American woman who has gone my entire life with CPT II deficiency, undiagnosed and untreated. After a long journey of misdiagnosis, I have created a foundation with a goal of helping anyone who is multi-racial to get the information they need to get genetic testing. 

 

Hayley Coble

I am a public librarian diagnosed at a young age with MCAD deficiency. As an adult, I've been fortunate to be able to manage my disease. A benefit to being diagnosed early has allowed me to take my prescribed medication and only see my specialist once a year. I feel like my condition has been isolating and I don't know what my future looks like, but I feel lucky to be at the conference to meet all of the people that I have met, even some with MCAD.

 

Tasia Rechisky

I'm a 31-year old (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency) VLCAD patient. I was diagnosed through newborn screening and at about 2 years old, my health stabilized, and I grew up leading a pretty normal life. As a teenager, my medication wasn't working as well and I was less able to keep up with my peers. Today, a lot of my life revolves around managing my health, both mentally and physically. My rare disease experience has led me to talking to people and using my voice for good.

 

Alex Salser

I am 20 years old and I have LCHAD. Unlike through childhood, I experienced energy deficits during adolescence, along with other symptoms of LCHAD. I started a rehabilitation journey that put me at the forefront of my community and I want to serve as inspiration for people to stay positive and keep going, one step at a time. 

 

 

RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference 

https://give.mitoaction.org/event/2023-international-metabolic-conference/e451564

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

 

https://www.linkedin.com/company/mitoaction

 

 

]]> full 92 false  

PARENTS AS RARE - EPISODE 092

Patient Stories from the FAOD Community - Live from the IMC

 

I encouraged the FAOD community attending the 2023 Metobolic Conference in Denver, CO to share their stories with me. This is a special, live-recorded episode that features patient stories that paint a beautiful picture of what their journeys have been like and the importance of community.

 

EPISODE HIGHLIGHTS

 

Karen Richtman

This is my first time attending this conference and I have felt so embraced. I have learned more information about my diagnosis than anyone has ever provided me. I feel so connected to this community and it's truly powerful. 

 

Sylvia Hood-Washington

I am an Environmental Epidemiologist & Historian of Science, Technology, Environment and Medicine, and I am an FOAD patient with Carnitine palmitoyltransferase II (CPT II) deficiency. This is my first conference and I have come here as a 64-year old African American woman who has gone my entire life with CPT II deficiency, undiagnosed and untreated. After a long journey of misdiagnosis, I have created a foundation with a goal of helping anyone who is multi-racial to get the information they need to get genetic testing. 

 

Hayley Coble

I am a public librarian diagnosed at a young age with MCAD deficiency. As an adult, I've been fortunate to be able to manage my disease. A benefit to being diagnosed early has allowed me to take my prescribed medication and only see my specialist once a year. I feel like my condition has been isolating and I don't know what my future looks like, but I feel lucky to be at the conference to meet all of the people that I have met, even some with MCAD.

 

Tasia Rechisky

I'm a 31-year old (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency) VLCAD patient. I was diagnosed through newborn screening and at about 2 years old, my health stabilized, and I grew up leading a pretty normal life. As a teenager, my medication wasn't working as well and I was less able to keep up with my peers. Today, a lot of my life revolves around managing my health, both mentally and physically. My rare disease experience has led me to talking to people and using my voice for good.

 

Alex Salser

I am 20 years old and I have LCHAD. Unlike through childhood, I experienced energy deficits during adolescence, along with other symptoms of LCHAD. I started a rehabilitation journey that put me at the forefront of my community and I want to serve as inspiration for people to stay positive and keep going, one step at a time. 

 

 

RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference 

https://give.mitoaction.org/event/2023-international-metabolic-conference/e451564

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

 

https://www.linkedin.com/company/mitoaction

 

 

]]> 00:45:32 <![CDATA[Hailee The Mito Warrior]]> Wed, 09 Aug 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1533772 https://energy-in-action-by-mitoaction.castos.com/episodes/hailee-the-mito-warrior ENERGY IN ACTION - EPISODE 091

Hailee The Mito Warrior

 

Hailee is the Ultimate Mito Warrior. She has such a positive attitude, despite the challenges she experiences on a daily basis. She works to create awareness of her mitochondrial disease, and secondary conditions she endures through her videos on YouTube.

 

EPISODE HIGHLIGHTS

 

Can you share about your particular mitochondrial disease and your diagnosis journey?

I have a disease that's only known to affect me and my mom. I was diagnosed when I was 5 years old. For the first five years of my life, I experienced cyclic vomiting syndrome and I was in and out of the hospital. I also experienced developmental delays and low energy. My parents saw a talk by a doctor who linked cyclic vomiting syndrome to some mitochondrial patients and we scheduled an appointment with him based on other similarities of the disease that I was experiencing. Through muscle biopsy, I was diagnosed with mitochondrial disease and started receiving the mito cocktail and also medication for the cyclic vomiting syndrome. A couple years later, I also did genetic testing which provided more insight. 

 

Who is Hailee outside of your disease and medical challenges?

I really enjoy photography and I find it to be fun and therapeutic. I also love escaping to another world through reading and my dog Willow. I enjoy hanging out with friends and family and traveling whenever I'm able. Something that's been healing for me has been working on my YouTube channel where I share all about my life with mito.

 

What are your goals for your YouTube channel?

I vlog my day, even if they are mundane. I share in detail about my illnesses and struggles. I also share about my mental health. I started my channel back at a time when I felt very isolated and now my goal is to use it as a resource for others. I hope my videos help people feel less alone and I hope my videos serve as a source of learning. 

 

What are your goals for the future?

I've been in a state of waiting for something to happen medically, taking things one day at a time, but my health is stable right now. I am working on shifting my mindset from day-by-day to the future. One of my goals is to continue to share my story beyond my YouTube channel at speaking engagements and schools to spread awareness. I also hope, if my health permits, that I become a mom one day. 

 

FOLLOW HAILEE

YouTube

https://www.youtube.com/themitowarrior

Instagram

https://www.instagram.com/themitowarrior/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

]]> full 91 false ENERGY IN ACTION - EPISODE 091

Hailee The Mito Warrior

 

Hailee is the Ultimate Mito Warrior. She has such a positive attitude, despite the challenges she experiences on a daily basis. She works to create awareness of her mitochondrial disease, and secondary conditions she endures through her videos on YouTube.

 

EPISODE HIGHLIGHTS

 

Can you share about your particular mitochondrial disease and your diagnosis journey?

I have a disease that's only known to affect me and my mom. I was diagnosed when I was 5 years old. For the first five years of my life, I experienced cyclic vomiting syndrome and I was in and out of the hospital. I also experienced developmental delays and low energy. My parents saw a talk by a doctor who linked cyclic vomiting syndrome to some mitochondrial patients and we scheduled an appointment with him based on other similarities of the disease that I was experiencing. Through muscle biopsy, I was diagnosed with mitochondrial disease and started receiving the mito cocktail and also medication for the cyclic vomiting syndrome. A couple years later, I also did genetic testing which provided more insight. 

 

Who is Hailee outside of your disease and medical challenges?

I really enjoy photography and I find it to be fun and therapeutic. I also love escaping to another world through reading and my dog Willow. I enjoy hanging out with friends and family and traveling whenever I'm able. Something that's been healing for me has been working on my YouTube channel where I share all about my life with mito.

 

What are your goals for your YouTube channel?

I vlog my day, even if they are mundane. I share in detail about my illnesses and struggles. I also share about my mental health. I started my channel back at a time when I felt very isolated and now my goal is to use it as a resource for others. I hope my videos help people feel less alone and I hope my videos serve as a source of learning. 

 

What are your goals for the future?

I've been in a state of waiting for something to happen medically, taking things one day at a time, but my health is stable right now. I am working on shifting my mindset from day-by-day to the future. One of my goals is to continue to share my story beyond my YouTube channel at speaking engagements and schools to spread awareness. I also hope, if my health permits, that I become a mom one day. 

 

FOLLOW HAILEE

YouTube

https://www.youtube.com/themitowarrior

Instagram

https://www.instagram.com/themitowarrior/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:26:49 <![CDATA[Jeremiah Gracen TK2D Warrior]]> Wed, 02 Aug 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1527163 https://energy-in-action-by-mitoaction.castos.com/episodes/jeremiah-gracen-tk2d-warrior ENERGY IN ACTION - EPISODE 090

Jeremiah Gracen TK2D Warrior

 

Aneesa is the mom to Jeremiah, a beautiful, wonderful and special boy within our mitochondrial community. Aneesa shares her and Jeremiah's story to inspire others in the community.

 

EPISODE HIGHLIGHTS

 

Can you share about Jeremiah's disease and diagnosis journey?

Jeremiah has thymidine kinase 2 deficiency (TK2D), categorized under the mitochondrial DNA depletion or deletion syndrome, further classified as a myopathic form because it affects all the muscles in the body due to a lack of energy to function properly. Jeremiah developed a fever and became weak and floppy. He wasn't eating well and was struggling to breathe. We were referred for genetic testing and received a diagnosis really quickly. 

 

What changed when you received a diagnosis?

Jeremiah was the youngest patient in the world to be diagnosed, and the earlier the onset, the more progressive the disease. We were notified that there was no treatment and no cure and provided with alternative resources. We reached out to UMDF and we were further connected to additional resources and other families. 

 

What can you share about the clinical trial that Jeremiah is participating in?

There's not much I can share, but it's a clinical trial related to his disease and it will be historic. There are currently no treatments available, but I am noticing that Jeremiah is improving, hitting milestones, and I'm sure to document everything along the way. The clinical trial medication in partnership with his quality care seems to be working well. 

 

 

FOLLOW JEREMIAH

Jeremiah Gracen on Facebook

https://www.facebook.com/JeremiahGracenTK2DWarrior/

Jeremiah Gracen on Instagram

https://www.instagram.com/jeremiahgracentk2dwarrior/?hl=en

Jeremiah Gracen on YouTube

https://www.youtube.com/c/JeremiahGracenTK2DWarrior

Jeremiah Gracen on Tiktok

https://www.tiktok.com/@jeremiahgracentk2d

 

 

LINKS & RESOURCES MENTIONED

Tell Me, Teach Me, Is it TK2D?

https://www.amazon.com/Tell-Me-Teach-TK2D/dp/B0C5KNG6WB

 

Miracle League of Florence County

https://miracleleagueofflorencecounty.org/

Camp ADAPTabilities

https://www.speciallyabledmiracles.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

Linke

dIn

https://www.linkedin.com/company/mitoaction

 

]]> full 90 false ENERGY IN ACTION - EPISODE 090

Jeremiah Gracen TK2D Warrior

 

Aneesa is the mom to Jeremiah, a beautiful, wonderful and special boy within our mitochondrial community. Aneesa shares her and Jeremiah's story to inspire others in the community.

 

EPISODE HIGHLIGHTS

 

Can you share about Jeremiah's disease and diagnosis journey?

Jeremiah has thymidine kinase 2 deficiency (TK2D), categorized under the mitochondrial DNA depletion or deletion syndrome, further classified as a myopathic form because it affects all the muscles in the body due to a lack of energy to function properly. Jeremiah developed a fever and became weak and floppy. He wasn't eating well and was struggling to breathe. We were referred for genetic testing and received a diagnosis really quickly. 

 

What changed when you received a diagnosis?

Jeremiah was the youngest patient in the world to be diagnosed, and the earlier the onset, the more progressive the disease. We were notified that there was no treatment and no cure and provided with alternative resources. We reached out to UMDF and we were further connected to additional resources and other families. 

 

What can you share about the clinical trial that Jeremiah is participating in?

There's not much I can share, but it's a clinical trial related to his disease and it will be historic. There are currently no treatments available, but I am noticing that Jeremiah is improving, hitting milestones, and I'm sure to document everything along the way. The clinical trial medication in partnership with his quality care seems to be working well. 

 

 

FOLLOW JEREMIAH

Jeremiah Gracen on Facebook

https://www.facebook.com/JeremiahGracenTK2DWarrior/

Jeremiah Gracen on Instagram

https://www.instagram.com/jeremiahgracentk2dwarrior/?hl=en

Jeremiah Gracen on YouTube

https://www.youtube.com/c/JeremiahGracenTK2DWarrior

Jeremiah Gracen on Tiktok

https://www.tiktok.com/@jeremiahgracentk2d

 

 

LINKS & RESOURCES MENTIONED

Tell Me, Teach Me, Is it TK2D?

https://www.amazon.com/Tell-Me-Teach-TK2D/dp/B0C5KNG6WB

 

Miracle League of Florence County

https://miracleleagueofflorencecounty.org/

Camp ADAPTabilities

https://www.speciallyabledmiracles.org/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

Linke

dIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:32:03 <![CDATA[ Akron Children’s Hospital Mito Clinic Research Update]]> Sat, 22 Jul 2023 02:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1520141 https://energy-in-action-by-mitoaction.castos.com/episodes/akron-childrens-hospital-mito-clinic-research-update ENERGY IN ACTION - EPISODE 090

Akron Children’s Hospital Mito Clinic Research Update

 

I'm joined by Dr. Bruce Cohen, Dr. Matthew Ginsberg and Clinical Research Coordinator, Ashley Erdesky— all part of the clinical and research team at the Akron Children's Hospital Mitochondrial Center. 

 

EPISODE HIGHLIGHTS

 

How does a patient discover if they qualify to participate in a clinical trial and how do they get started?

A patient can visit clinicaltrials.gov, enter their diagnosis and search for open and active trials. They can also find resources through MitoAction or United Mitochondrial Disease Foundation. More directly, a patient can visit us in Akron or visit another mitochondrial center to see what they're eligible for. Clinical trial requirements generally have a checklist of qualifications and other details and considerations. It may be difficult to know with certainty that a patient qualifies without speaking to a trial coordinator.

 

What is the importance of patients participating in clinical trials and why is it critical to move therapy developments forward?

It's absolutely essential. We can't know if a treatment is effective and safe without subjecting it to scientific inquiry and performing a clinical trial. Participating in a clinical trial is the greatest gift you can give to other patients who will come later. Even if a clinical trial shows that a medication is not effective, it's useful information that brings us one step closer to effective therapies. We need enough patients and enough data in trials to know whether or not a therapy is effective and every participant counts.

 

In a drug trial, how is it determined who will get the drug and who will get the placebo?

In most clinical trials, patients are randomized and double-blinded by computer before receiving the drug or placebo. To accurately compare patients, neither the doctor or patient will know if they're receiving the drug or placebo to ensure we get medications to market that work and don't have side effects. 

 

What are your words of encouragement for patients that progress is being made and hope is on the horizon?

There is always a light on at our facility. Through trials, progress is being made and people are seeing the progress, so we won't stop and we'll continue to fight for our patients. This is an exciting time for mitochondrial disease. There are over 70 trials registered for mitochondrial disease and there's more reason to be helpful than ever before. Soon, we'll have treatments potentially curative for mitochondrial disease and there's so much hope. 

 

LINKS & RESOURCES MENTIONED

North American Mitochondrial Disease Consortium Patient Registry and Biorepository

https://www.clinicaltrials.gov/ct2/show/NCT01694940

Active and Enrolling Trials at Akron Children's Hospital

https://www.clinicaltrials.gov/ct2/results?locn=Akron+Chil...

]]> full 90 false ENERGY IN ACTION - EPISODE 090

Akron Children’s Hospital Mito Clinic Research Update

 

I'm joined by Dr. Bruce Cohen, Dr. Matthew Ginsberg and Clinical Research Coordinator, Ashley Erdesky— all part of the clinical and research team at the Akron Children's Hospital Mitochondrial Center. 

 

EPISODE HIGHLIGHTS

 

How does a patient discover if they qualify to participate in a clinical trial and how do they get started?

A patient can visit clinicaltrials.gov, enter their diagnosis and search for open and active trials. They can also find resources through MitoAction or United Mitochondrial Disease Foundation. More directly, a patient can visit us in Akron or visit another mitochondrial center to see what they're eligible for. Clinical trial requirements generally have a checklist of qualifications and other details and considerations. It may be difficult to know with certainty that a patient qualifies without speaking to a trial coordinator.

 

What is the importance of patients participating in clinical trials and why is it critical to move therapy developments forward?

It's absolutely essential. We can't know if a treatment is effective and safe without subjecting it to scientific inquiry and performing a clinical trial. Participating in a clinical trial is the greatest gift you can give to other patients who will come later. Even if a clinical trial shows that a medication is not effective, it's useful information that brings us one step closer to effective therapies. We need enough patients and enough data in trials to know whether or not a therapy is effective and every participant counts.

 

In a drug trial, how is it determined who will get the drug and who will get the placebo?

In most clinical trials, patients are randomized and double-blinded by computer before receiving the drug or placebo. To accurately compare patients, neither the doctor or patient will know if they're receiving the drug or placebo to ensure we get medications to market that work and don't have side effects. 

 

What are your words of encouragement for patients that progress is being made and hope is on the horizon?

There is always a light on at our facility. Through trials, progress is being made and people are seeing the progress, so we won't stop and we'll continue to fight for our patients. This is an exciting time for mitochondrial disease. There are over 70 trials registered for mitochondrial disease and there's more reason to be helpful than ever before. Soon, we'll have treatments potentially curative for mitochondrial disease and there's so much hope. 

 

LINKS & RESOURCES MENTIONED

North American Mitochondrial Disease Consortium Patient Registry and Biorepository

https://www.clinicaltrials.gov/ct2/show/NCT01694940

Active and Enrolling Trials at Akron Children's Hospital

https://www.clinicaltrials.gov/ct2/results?locn=Akron+Children%27s+Hospital&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=

Mitochondrial Care Network

https://www.mitonetwork.org/

NAMDC

https://namdc.rarediseasesnetwork.org/

United Mitochondrial Disease Foundation

https://www.umdf.org/

 

CONNECT WITH AKRON CHILDREN’S HOSPITAL 

Akron Children's Hospital, Mitochondrial Center Website

https://www.akronchildrens.org/departments/Mitochondrial-Center.html

Email Mitochondrial Center

mito@akronchildrens.org

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:47:04 <![CDATA[Grandparents As Rare - Go Find Your Bike]]> Wed, 19 Jul 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1519663 https://energy-in-action-by-mitoaction.castos.com/episodes/grandparents-as-rare-go-find-your-bike  

PARENTS AS RARE - EPISODE 089

Grandparents As Rare: Find Your Bike, With Karen Richtman

 

Karen Richtman shares her patient story, shining light on her journey and her connection to Fatty Acid Oxidation Disorder (FAOD). In addition to being a parent as rare, she is also a grandparent as rare, and she has some wonderful aspirations for future support and advocacy. 

 

Life is like riding a bike. Balance yourself, hydrate frequently and be safe. It isn't how far or how fast you go that counts. No matter whether you are on a self-powered beach bike, tricycle, electric-powered or power-assisted bike (or chair), find joy in the moment. Celebrate the personal success you have, big or small, with assistance or without. It is the freedom of the wind in your face and the joy of the ride. Do what you can, love what you do, no judgment. —Karen Richtman

 

EPISODE HIGHLIGHTS

 

Can you start by sharing a little bit about yourself?

I'm 66 years old and I have five grandchildren and one on the way. I've been married to my husband Paul for 44 years. I've lived with chronic pain my whole life, but I'm an Energizer Bunny with a dying battery. My mito journey started when I was four years old, hospitalized for a reason not disclosed to me. When I was 12 years old, we had done hurdles in gym class and I couldn't walk the next day. The pain resulted every time I ran or did something athletic and none of my friends had the same pain. When I started college, I developed food allergies and I was falling asleep in class. I went onto law school and falling asleep in class was an ongoing problem. 

 

When did your symptoms push you to seek answers and medical guidance?

After my husband and I married I started to think about starting a family and saw my doctor for the pain. The doctor said I had a herniated disc and he also found a birth defect, which was an enlarged disc from a joint that hadn't fully developed in my lower back. I had surgery and we proceeded to get pregnant. I had a good pregnancy and our daughter was born when I was 24. We had our second child when I was 27. I was very tired and I had to nap often. After a back injury I sustained in PT, I had to have another surgery for a fusion at the age of 35. When I went back for a follow up, I let the doctor know that I was still in a lot of pain. I was referred and received a fibromyalgia diagnosis. After a while, I went back to the doctor because I didn't think the fibromyalgia diagnosis was correct. He referred me to another doctor and I had a muscle biopsy procedure. After months, the results came back that my body doesn't produce enough of the enzyme that transports fatty acids and I was diagnosed with carnitine palmitoyltransferase II (CPT II) deficiency. 

 

How did getting a diagnosis change your life?

It was life-changing and it was a turning point for me. I could stop seeking answers and move on to help others. When my doctor who was knowledgeable about and treating my mito passed away, my journey got complicated for years. Finding out there was a MitoAction support group for FAOD has been life-changing because I've met people who have the same diagnosis as me. Another turning point for me was getting an electric-assist bike because it was freeing and it helped me embrace my limits. Riding has helped me feel healthy and it makes me happy to be out in nature.

 

What has your experience been like as a grandparent?

My earliest experiences with grandchildren was exhausting. Being a grandma isn't much different than being a mom. I'm still a mom in every way you can imagine to my children, but as a grandma I've decided since I can't keep up with them, I'll be the grandma who makes things and teaches them to make things. I've been creative in thinking about what I can do that the kids will think is fun. We bake cookies, knit, sew, read, paint and write l...

]]> full 89 false  

PARENTS AS RARE - EPISODE 089

Grandparents As Rare: Find Your Bike, With Karen Richtman

 

Karen Richtman shares her patient story, shining light on her journey and her connection to Fatty Acid Oxidation Disorder (FAOD). In addition to being a parent as rare, she is also a grandparent as rare, and she has some wonderful aspirations for future support and advocacy. 

 

Life is like riding a bike. Balance yourself, hydrate frequently and be safe. It isn't how far or how fast you go that counts. No matter whether you are on a self-powered beach bike, tricycle, electric-powered or power-assisted bike (or chair), find joy in the moment. Celebrate the personal success you have, big or small, with assistance or without. It is the freedom of the wind in your face and the joy of the ride. Do what you can, love what you do, no judgment. —Karen Richtman

 

EPISODE HIGHLIGHTS

 

Can you start by sharing a little bit about yourself?

I'm 66 years old and I have five grandchildren and one on the way. I've been married to my husband Paul for 44 years. I've lived with chronic pain my whole life, but I'm an Energizer Bunny with a dying battery. My mito journey started when I was four years old, hospitalized for a reason not disclosed to me. When I was 12 years old, we had done hurdles in gym class and I couldn't walk the next day. The pain resulted every time I ran or did something athletic and none of my friends had the same pain. When I started college, I developed food allergies and I was falling asleep in class. I went onto law school and falling asleep in class was an ongoing problem. 

 

When did your symptoms push you to seek answers and medical guidance?

After my husband and I married I started to think about starting a family and saw my doctor for the pain. The doctor said I had a herniated disc and he also found a birth defect, which was an enlarged disc from a joint that hadn't fully developed in my lower back. I had surgery and we proceeded to get pregnant. I had a good pregnancy and our daughter was born when I was 24. We had our second child when I was 27. I was very tired and I had to nap often. After a back injury I sustained in PT, I had to have another surgery for a fusion at the age of 35. When I went back for a follow up, I let the doctor know that I was still in a lot of pain. I was referred and received a fibromyalgia diagnosis. After a while, I went back to the doctor because I didn't think the fibromyalgia diagnosis was correct. He referred me to another doctor and I had a muscle biopsy procedure. After months, the results came back that my body doesn't produce enough of the enzyme that transports fatty acids and I was diagnosed with carnitine palmitoyltransferase II (CPT II) deficiency. 

 

How did getting a diagnosis change your life?

It was life-changing and it was a turning point for me. I could stop seeking answers and move on to help others. When my doctor who was knowledgeable about and treating my mito passed away, my journey got complicated for years. Finding out there was a MitoAction support group for FAOD has been life-changing because I've met people who have the same diagnosis as me. Another turning point for me was getting an electric-assist bike because it was freeing and it helped me embrace my limits. Riding has helped me feel healthy and it makes me happy to be out in nature.

 

What has your experience been like as a grandparent?

My earliest experiences with grandchildren was exhausting. Being a grandma isn't much different than being a mom. I'm still a mom in every way you can imagine to my children, but as a grandma I've decided since I can't keep up with them, I'll be the grandma who makes things and teaches them to make things. I've been creative in thinking about what I can do that the kids will think is fun. We bake cookies, knit, sew, read, paint and write letters. We also go for walks and on bike rides. 

 

 

RESOURCES MENTIONED

International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference 

https://give.mitoaction.org/event/2023-international-metabolic-conference/e451564

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

h

ttps://www.linkedin.com/company/mitoaction

 

 

]]> 00:57:23 <![CDATA[Exercise for Mitochondrial Patients]]> Wed, 12 Jul 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1515019 https://energy-in-action-by-mitoaction.castos.com/episodes/exercise-for-mitochondrial-patients ENERGY IN ACTION - EPISODE 088

Exercise for Mitochondrial Patients

 

Dr. Nicole Voet joins us from the Rehabilitation Department of Radboud University Medical Center in the Netherlands. We will discuss the importance of exercise for mitochondrial patients and what is best for our community based on her knowledge, experience and research. 

 

EPISODE HIGHLIGHTS

 

What is your advice for someone with mitochondrial disease when starting a new exercise routine?

When you start exercising, especially when you're more severely affected by the disease, it's best to start low and go slow. Within the rehabilitation center we have performed research on muscle fatigue because it's one of the most disabling symptoms of mitochondrial disease. Mitochondria deliver energy and because they don't perform well, when you start exercising lactate increases early, causing muscle pain and fatigue. It's recommended to start exercising at only 30% of capacity, building slowly, and you'll find you're not as fatigued and you can increase the intensity of the exercise. Starting low, focus on building duration, then building intensity.

 

What is the best way to measure the appropriate duration and intensity of an exercise routine?

The Borg scale can be used to check your fatigue and exercise intensity. Reflect on how your exercise outcomes may interfere with daily activities. If you're exercising at too high of an intensity and it limits your ability to perform typical tasks, you may need to adjust. Some muscle pain is okay, so long as it doesn't occur for more than 24 hours after exercising. When you're still able to talk while you're exercising, the exercise isn't too intense. 

 

What is the expected outcome for someone with mitochondrial disease who doesn't exercise?

When you have mitochondrial disease, your mitochondria are unhealthy and not very good at creating energy. Without exercise, the amount of healthy mitochondria decreases. With exercise, the amount of healthy mitochondria will increase. 

 

Is one exercise more beneficial than another?

Strengthening exercises, such as exercises done with weights, have been shown to be less effective than aerobic. If you do strengthening exercises, it's better to perform a higher number of repetitions and a lower or no weight. Aerobic exercise, including walking, running, cycling or swimming, are all very effective in neuromuscular and mitochondrial diseases. Aerobic exercise is the most effective. 

 

LINKS & RESOURCES MENTIONED

Borg Rating Of Perceived Exertion

https://www.physio-pedia.com/Borg_Rating_Of_Perceived_Exertion

Nicole Voet on Spotify

https://open.spotify.com/show/5POdR3POvv6Mm4JHS9pmln



CONNECT WITH MITOACTION

Website

]]> full 88 false ENERGY IN ACTION - EPISODE 088

Exercise for Mitochondrial Patients

 

Dr. Nicole Voet joins us from the Rehabilitation Department of Radboud University Medical Center in the Netherlands. We will discuss the importance of exercise for mitochondrial patients and what is best for our community based on her knowledge, experience and research. 

 

EPISODE HIGHLIGHTS

 

What is your advice for someone with mitochondrial disease when starting a new exercise routine?

When you start exercising, especially when you're more severely affected by the disease, it's best to start low and go slow. Within the rehabilitation center we have performed research on muscle fatigue because it's one of the most disabling symptoms of mitochondrial disease. Mitochondria deliver energy and because they don't perform well, when you start exercising lactate increases early, causing muscle pain and fatigue. It's recommended to start exercising at only 30% of capacity, building slowly, and you'll find you're not as fatigued and you can increase the intensity of the exercise. Starting low, focus on building duration, then building intensity.

 

What is the best way to measure the appropriate duration and intensity of an exercise routine?

The Borg scale can be used to check your fatigue and exercise intensity. Reflect on how your exercise outcomes may interfere with daily activities. If you're exercising at too high of an intensity and it limits your ability to perform typical tasks, you may need to adjust. Some muscle pain is okay, so long as it doesn't occur for more than 24 hours after exercising. When you're still able to talk while you're exercising, the exercise isn't too intense. 

 

What is the expected outcome for someone with mitochondrial disease who doesn't exercise?

When you have mitochondrial disease, your mitochondria are unhealthy and not very good at creating energy. Without exercise, the amount of healthy mitochondria decreases. With exercise, the amount of healthy mitochondria will increase. 

 

Is one exercise more beneficial than another?

Strengthening exercises, such as exercises done with weights, have been shown to be less effective than aerobic. If you do strengthening exercises, it's better to perform a higher number of repetitions and a lower or no weight. Aerobic exercise, including walking, running, cycling or swimming, are all very effective in neuromuscular and mitochondrial diseases. Aerobic exercise is the most effective. 

 

LINKS & RESOURCES MENTIONED

Borg Rating Of Perceived Exertion

https://www.physio-pedia.com/Borg_Rating_Of_Perceived_Exertion

Nicole Voet on Spotify

https://open.spotify.com/show/5POdR3POvv6Mm4JHS9pmln



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:40:41 <![CDATA[Shades of Grief with Dr. Kendall]]> Mon, 10 Jul 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1512614 https://energy-in-action-by-mitoaction.castos.com/episodes/shades-of-grief-with-dr-kendall ENERGY IN ACTION - EPISODE 087

Shades of Grief with Dr. Kendall

 

Dr. Fran Kendall is the Founder of VMP Genetics. As a geneticist, she has supported mitochondrial patients for the last three decades. She has also written a book called Shades of Grief which highlights her personal struggles with grief through her professional work as a geneticist.

 

EPISODE HIGHLIGHTS

 

What was the inspiration for your book, Shades of Grief?

I have always been interested in writing and I've been writing since I was young. The inspiration for this book, specifically, started with my patient population and my friends encouraged me to compile the manuscript and share my personal journey to help others work through grief. There have been many patients who have touched me profoundly over the course of my career. The story is complex, not only about patients, but that if we as physicians connect with patients, we become an integral part of their lives. 

 

In the mitochondrial community, dealing with genetic-related diseases, would you agree that they typically deal with compounding grief?

When it comes to genetic disorders, it often affects more than one family member, and sometimes multiple generations. That grief is heavy and crushing, especially after the loss of several family members or the loss of a child.

 

Through all of your work with patients and the grief you've experienced professionally and personally in your life, what helps you get through everything?

I think the most important thing is to embrace people important to you. Don't sweat the small stuff and enjoy the small things. In the day-to-day, find time for quiet moments and to honor your own needs. My parents inspired me to love, be loved and to be of service to others-- the guiding principals I hold onto. 

 

 

LINKS & RESOURCES MENTIONED

Shades of Grief - RoseDog Bookstore

https://rosedogbookstore.com/shades-of-grief-echoes-of-hope-from-the-darkness/

Shades of Grief - Amazon

https://www.amazon.com/Shades-Grief-Echoes-Hope-Darkness/dp/B0BKMPPTCC

Shades of Grief - Barnes & Noble

https://www.barnesandnoble.com/w/shades-of-grief-frances-dougherty-kendall/1142570341

VMP Genetics

https://www.vmpgenetics.com/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https:

//www.linkedin.com/company/mitoaction

 

]]> full 87 false ENERGY IN ACTION - EPISODE 087

Shades of Grief with Dr. Kendall

 

Dr. Fran Kendall is the Founder of VMP Genetics. As a geneticist, she has supported mitochondrial patients for the last three decades. She has also written a book called Shades of Grief which highlights her personal struggles with grief through her professional work as a geneticist.

 

EPISODE HIGHLIGHTS

 

What was the inspiration for your book, Shades of Grief?

I have always been interested in writing and I've been writing since I was young. The inspiration for this book, specifically, started with my patient population and my friends encouraged me to compile the manuscript and share my personal journey to help others work through grief. There have been many patients who have touched me profoundly over the course of my career. The story is complex, not only about patients, but that if we as physicians connect with patients, we become an integral part of their lives. 

 

In the mitochondrial community, dealing with genetic-related diseases, would you agree that they typically deal with compounding grief?

When it comes to genetic disorders, it often affects more than one family member, and sometimes multiple generations. That grief is heavy and crushing, especially after the loss of several family members or the loss of a child.

 

Through all of your work with patients and the grief you've experienced professionally and personally in your life, what helps you get through everything?

I think the most important thing is to embrace people important to you. Don't sweat the small stuff and enjoy the small things. In the day-to-day, find time for quiet moments and to honor your own needs. My parents inspired me to love, be loved and to be of service to others-- the guiding principals I hold onto. 

 

 

LINKS & RESOURCES MENTIONED

Shades of Grief - RoseDog Bookstore

https://rosedogbookstore.com/shades-of-grief-echoes-of-hope-from-the-darkness/

Shades of Grief - Amazon

https://www.amazon.com/Shades-Grief-Echoes-Hope-Darkness/dp/B0BKMPPTCC

Shades of Grief - Barnes & Noble

https://www.barnesandnoble.com/w/shades-of-grief-frances-dougherty-kendall/1142570341

VMP Genetics

https://www.vmpgenetics.com/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https:

//www.linkedin.com/company/mitoaction

 

]]> 00:26:12 <![CDATA[Travel Tips from the PAR Community with Lisa Weinberger]]> Thu, 22 Jun 2023 06:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1501352 https://energy-in-action-by-mitoaction.castos.com/episodes/travel-tips-from-the-par-community-with-lisa-weinberger  

PARENTS AS RARE - EPISODE 086

Travel Tips from the PAR Community with Lisa Weinberger

 

Lisa Weinberger and host, Adam Johnson, share tips and tricks for summer travel, hitting the road, or taking to the skies when you have unique health situations and circumstances to consider.

 

EPISODE HIGHLIGHTS

 

Preparation

  • Plan an itinerary for each day that includes all travel details for easy reference, preferably in a way that can be shared among other traveling family or friends. 
  • Give yourself plenty of time in advance of your planned travel dates to outline and plan the trip details. 
  • When building your itinerary, build in time for rest or any other needs you may have.
  • Get ahead at home before your trip to avoid having things to do when you get home. 
  • Check the accessibility of places you'll be visiting.
  • Make doctor's appointments in advance of your trip and ensure you have all needed medications filled or adjusted. Order prescriptions well in advance of your travel dates.
  • Book sufficient accommodations in case you can't participate in activity or need to remain at the hotel.
  • Locate local grocery stores, general retailers and pharmacies where you'll be staying and see what delivery options are available. 

 

Organizing Medical Information

  • Have a list of your medications, medical conditions, allergies and emergency contacts printed and laminated, readily available in one convenient location. 
  • Include your providers in planning to establish healthcare proxies.
  • Compile your healthcare providers' contact information.
  • Create an audio file on your phone that explains your disease diagnosis and protocols in case you're unable to speak in an emergency.

 

Packing

  • Start packing in advance of your trip so you can take your time and pace yourself.
  • Only pack what you need to avoid checking bags with the airline, if possible.
  • Pack a water bottle so you stay hydrated when you're traveling. If you're traveling somewhere hot, also bring a cooling fan or cooling towel.
  • Bring a book or ebook device to catch up on your reading while you're traveling. This is also a good time to catch up on your favorite podcasts. 
  • Don't forget headphones for sleeping, travel ambiance and listening to music, podcasts or audio books.
  • If there are last minute items you might forget, put the items at the door or create a reminder for yourself.
  • If you have one, bring your handicap placar...
]]> full 86 false  

PARENTS AS RARE - EPISODE 086

Travel Tips from the PAR Community with Lisa Weinberger

 

Lisa Weinberger and host, Adam Johnson, share tips and tricks for summer travel, hitting the road, or taking to the skies when you have unique health situations and circumstances to consider.

 

EPISODE HIGHLIGHTS

 

Preparation

  • Plan an itinerary for each day that includes all travel details for easy reference, preferably in a way that can be shared among other traveling family or friends. 
  • Give yourself plenty of time in advance of your planned travel dates to outline and plan the trip details. 
  • When building your itinerary, build in time for rest or any other needs you may have.
  • Get ahead at home before your trip to avoid having things to do when you get home. 
  • Check the accessibility of places you'll be visiting.
  • Make doctor's appointments in advance of your trip and ensure you have all needed medications filled or adjusted. Order prescriptions well in advance of your travel dates.
  • Book sufficient accommodations in case you can't participate in activity or need to remain at the hotel.
  • Locate local grocery stores, general retailers and pharmacies where you'll be staying and see what delivery options are available. 

 

Organizing Medical Information

  • Have a list of your medications, medical conditions, allergies and emergency contacts printed and laminated, readily available in one convenient location. 
  • Include your providers in planning to establish healthcare proxies.
  • Compile your healthcare providers' contact information.
  • Create an audio file on your phone that explains your disease diagnosis and protocols in case you're unable to speak in an emergency.

 

Packing

  • Start packing in advance of your trip so you can take your time and pace yourself.
  • Only pack what you need to avoid checking bags with the airline, if possible.
  • Pack a water bottle so you stay hydrated when you're traveling. If you're traveling somewhere hot, also bring a cooling fan or cooling towel.
  • Bring a book or ebook device to catch up on your reading while you're traveling. This is also a good time to catch up on your favorite podcasts. 
  • Don't forget headphones for sleeping, travel ambiance and listening to music, podcasts or audio books.
  • If there are last minute items you might forget, put the items at the door or create a reminder for yourself.
  • If you have one, bring your handicap placard with you.

 

Equipment and Supplies

  • If needed, look for a scooter rental in the area you're traveling to. Some companies will deliver to your hotel room in advance.
  • Wear an emergency medical band, especially if you're traveling alone. 
  • Pack extra medication and medical supplies when traveling just in case you're delayed returning home. 

 

Airline Travel

  • Each airport and airline may have differing rules about accommodations you may need, so call ahead and ask if you can't find related policies on their website. 
  • Many airports and airline companies have accessibility service teams to help you with your travel, so when you call with questions, request those resources.
  • If there are ways to speed up travel, international or domestic, opt to do it. Use pre-check to move through airline security quicker. If you're renting a car, sign up for contactless pick-up so you can locate the car and be on your way quickly.
  • If you're traveling with medical equipment, ask security to hand-check it to avoid damage.

 

Car Travel

  • Pack and bring light meals, snacks and a cooler with beverages. Use grocery delivery services to get everything you need to pack.
  • Break up your drive and share driving responsibilities, if possible. 
  • Take advantage of stops, planned or otherwise, to get out of the car, move, take photos and enjoy the experience.

 

Post Travel

    • Don't make big plans for after you return home so you can rest and recover.

 

  • Schedule physical therapy, massage therapy or chiropractor appointments for when you return home to help with stretching and loosening up muscles. 

 



RESOURCES MENTIONED

Parents As Rare - Episode 52

https://www.mitoaction.org/resources/lisa-weinberger-be-your-own-advocate-listen-to-your-body-take-control-of-your-health-ask-questions/

Parents As Rare - Episode 65

https://www.mitoaction.org/resources/tara-zier-stiff-person-syndrome-research-foundation-and-finding-your-purpose/

Parents As Rare - Episode 43

https://www.mitoaction.org/resources/par_davidross/

Parents As Rare - Episode 73

https://www.mitoaction.org/resources/challenging-the-status-quo/

Scootaround

https://scootaround.com/en

ScooterBug

https://www.scooterbug.com/

Once Upon a Gene Podcast

https://effieparks.com/podcast

TSA Cares

https://www.tsa.gov/travel/passenger-support



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:46:08 <![CDATA[Fighting Chronic Pain with the Neubie]]> Wed, 14 Jun 2023 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1496456 https://energy-in-action-by-mitoaction.castos.com/episodes/fighting-chronic-pain-with-the-neubie ENERGY IN ACTION - EPISODE 085

Fighting Chronic Pain with the Neubie

 

Garrett Salpeter is the Founder of NeuFit, which developed the product Neubie, a fantastic advancement in fighting chronic health.

 

EPISODE HIGHLIGHTS

 

What is the Neubie?

Neubie is an acronym for neuro-bio-electric stimulator. It's a direct current stimulation device that's different from any other electric modality device on the market. Direct current benefits include an electric field gradient which causes cells to move in a way that helps the healing process for bone, muscle tissue and nerves. Direct current also benefits short-term functional neurological changes to improve the way the body moves and improve function overall.

 

What happens during a Neubie session that reduces pain?

Pain is a response to perceived threat and it's created by the brain. The onset of pain is the brain's way of changing our behavior in some way. Chronic pain can be worse on some days due to psychological stressors. The Neubie can be used globally to down-regulate the perception of threat and help the body relax, which helps with chronic pain. Locally, a scan can uncover the hyper-sensitivity or perception of threat in the body and stimulate those areas to re-educate the brain. 

 

How does a patient interested in trying a Neubie locate one?

Most devices are in physical therapy, chiropractic and wellness clinics. Visit the NeuFit website to find a provider near you. Neubie devices are also available for personal, in-home use. 

 

What is a Neubie experience like?

An electrode will be scanned over the area, which will feel more intense over an area of dysfunction. The pads will be placed on the body and you'll work through a series of exercises and creating movement as the nervous system and brain is re-educated. A session will typically last the length of the normal physical therapy or chiropractic visit.

 

Why should the mitochondrial community consider Neubie treatment?

It's low-risk, non-invasive and won't have side effects like medications. Most people will notice progress right away, so you'll know fairly quickly if it's a treatment that can potentially help you. 

 

 

LINKS & RESOURCES MENTIONED

NeuFit Website

https://www.neu.fit/

Find a Neubie provider

https://portal.neu.fit/search-providers/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 85 false ENERGY IN ACTION - EPISODE 085

Fighting Chronic Pain with the Neubie

 

Garrett Salpeter is the Founder of NeuFit, which developed the product Neubie, a fantastic advancement in fighting chronic health.

 

EPISODE HIGHLIGHTS

 

What is the Neubie?

Neubie is an acronym for neuro-bio-electric stimulator. It's a direct current stimulation device that's different from any other electric modality device on the market. Direct current benefits include an electric field gradient which causes cells to move in a way that helps the healing process for bone, muscle tissue and nerves. Direct current also benefits short-term functional neurological changes to improve the way the body moves and improve function overall.

 

What happens during a Neubie session that reduces pain?

Pain is a response to perceived threat and it's created by the brain. The onset of pain is the brain's way of changing our behavior in some way. Chronic pain can be worse on some days due to psychological stressors. The Neubie can be used globally to down-regulate the perception of threat and help the body relax, which helps with chronic pain. Locally, a scan can uncover the hyper-sensitivity or perception of threat in the body and stimulate those areas to re-educate the brain. 

 

How does a patient interested in trying a Neubie locate one?

Most devices are in physical therapy, chiropractic and wellness clinics. Visit the NeuFit website to find a provider near you. Neubie devices are also available for personal, in-home use. 

 

What is a Neubie experience like?

An electrode will be scanned over the area, which will feel more intense over an area of dysfunction. The pads will be placed on the body and you'll work through a series of exercises and creating movement as the nervous system and brain is re-educated. A session will typically last the length of the normal physical therapy or chiropractic visit.

 

Why should the mitochondrial community consider Neubie treatment?

It's low-risk, non-invasive and won't have side effects like medications. Most people will notice progress right away, so you'll know fairly quickly if it's a treatment that can potentially help you. 

 

 

LINKS & RESOURCES MENTIONED

NeuFit Website

https://www.neu.fit/

Find a Neubie provider

https://portal.neu.fit/search-providers/

 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:36:27 <![CDATA[Minds in Motion]]> Wed, 07 Jun 2023 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1492066 https://energy-in-action-by-mitoaction.castos.com/episodes/minds-in-motion ENERGY IN ACTION - EPISODE 084

Minds in Motion

 

Candace Meyer is the Founder and CEO of Minds in Motion. She's done wonderful work supporting vestibular health throughout the mitochondrial community and beyond. Minds-In-Motion’s revolutionary program, using movement and brain integration, jump-starts the brain's neural pathways to help children maximize potential by building a better foundation for learning and equips them with the tools for success in school, in sports, and in society.

 

EPISODE HIGHLIGHTS

 

What inspired Minds in Motion?

As a reading specialist, I started scientifically researching children who were struggling to read. I took the data I collected and devised a program that would stimulate balance in children. 

 

Does data show that children and adults both benefit from the program?

My focus was always on children, but adults absolutely benefit. As you get older, you lose muscle tonality and if you re-tone the muscles in your inner ear, your brain wakes up, your auditory processing increases and your visual processing increases. 

 

What does an exercise consist of for an elementary age child?

An example would be the Bean Bag Boogie, where children throw and catch a bean bag and use their eyes to track the bag. The exercise will change to also include spinning and catching or hitting the bean bag with an elbow and catching it. The exercises require multiple motor skills, but are all designed to be fun.

 

How can a mitochondrial patient work with Minds in Motion? 

Visit the website to research the program, obtain the handbooks, balance boards, rotational boards and other equipment. No matter your age, you can benefit from the program.

 

How can a parent get Minds in Motion in their child's school?

Speak to a counselor or other key staff member and ask them to visit our website to see the upcoming training opportunities and get in touch with us for more information. 

 

 

LINKS & RESOURCES MENTIONED

Minds in Motion Website

https://www.mindsinmotion.com/

Shop Minds in Motion

https://www.mindsinmotion.com/shop

Minds in Motion for Schools

https://www.mindsinmotion.com/schools

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

htt

ps://www.linkedin.com/company/mitoaction

 

]]> full 84 false ENERGY IN ACTION - EPISODE 084

Minds in Motion

 

Candace Meyer is the Founder and CEO of Minds in Motion. She's done wonderful work supporting vestibular health throughout the mitochondrial community and beyond. Minds-In-Motion’s revolutionary program, using movement and brain integration, jump-starts the brain's neural pathways to help children maximize potential by building a better foundation for learning and equips them with the tools for success in school, in sports, and in society.

 

EPISODE HIGHLIGHTS

 

What inspired Minds in Motion?

As a reading specialist, I started scientifically researching children who were struggling to read. I took the data I collected and devised a program that would stimulate balance in children. 

 

Does data show that children and adults both benefit from the program?

My focus was always on children, but adults absolutely benefit. As you get older, you lose muscle tonality and if you re-tone the muscles in your inner ear, your brain wakes up, your auditory processing increases and your visual processing increases. 

 

What does an exercise consist of for an elementary age child?

An example would be the Bean Bag Boogie, where children throw and catch a bean bag and use their eyes to track the bag. The exercise will change to also include spinning and catching or hitting the bean bag with an elbow and catching it. The exercises require multiple motor skills, but are all designed to be fun.

 

How can a mitochondrial patient work with Minds in Motion? 

Visit the website to research the program, obtain the handbooks, balance boards, rotational boards and other equipment. No matter your age, you can benefit from the program.

 

How can a parent get Minds in Motion in their child's school?

Speak to a counselor or other key staff member and ask them to visit our website to see the upcoming training opportunities and get in touch with us for more information. 

 

 

LINKS & RESOURCES MENTIONED

Minds in Motion Website

https://www.mindsinmotion.com/

Shop Minds in Motion

https://www.mindsinmotion.com/shop

Minds in Motion for Schools

https://www.mindsinmotion.com/schools

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

htt

ps://www.linkedin.com/company/mitoaction

 

]]> 00:32:42 <![CDATA[Akron Children’s Hospital - Meet the Mito Clinic Team]]> Thu, 18 May 2023 16:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1471520 https://energy-in-action-by-mitoaction.castos.com/episodes/akron-childrens-hospital-meet-the-mito-clinic-team ENERGY IN ACTION - EPISODE 081

Akron Children’s Hospital - Meet the Mito Clinic Team

 

We are joined by Dr. Iam Rossman, Dr. Stephen Steiner, Dr. Abdu Alali and Nurse Coordinator, Kim Jaaeger— all clinic members from the Akron Children's Hospital Mitochondrial Center. 

 

EPISODE HIGHLIGHTS

 

What is the process for a patient to make an appointment?

We accept physician referrals and self-referrals and we see patients locally and regionally. Once a patient is accepted into the program, an authorization specialist will check benefit coverage and before the initial appointment, we have an internal discussion to formulate a care plan. A patient can expect the initial appointment to take place in as little as two months. 

 

What pre-qualifications are required to be accepted?

We don't require a confirmed diagnosis and we also see patients who are highly suspected to have mitochondrial disorder based on clinical history, laboratory findings and family history. 

 

What is a patient's first visit like and how can they prepare?

Just like most new patient evaluations, it's helpful to come with any data and imaging they have. Before the appointment, we will obtain records from other providers to preview as a team. Patients can expect a pretty long visit that doesn't feel rushed so we can get to know them and their medical history. Patients can make a list in advance of any questions they have along with their goals for the visit.

 

Can you talk about the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) initiative and how patients can get involved?

The overarching goal is to find out more about our patients in order to help them and also future patients. One of the ways we're doing that is through obtaining samples and banking them in the repository so that researchers have access to perform high-quality research. A patient must have an established genetic diagnosis to participate. 

 

How does a bio bank facilitate research and how are samples shared?

We collect samples with the goal to have clinical information tied to DNA available to then do further research and look at a bigger group of patients. Samples aren't associated with a patient's name. Instead they're de-identified, which allows a patient to contribute to our global understanding of a disorder and remain anonymous. 



LINKS & RESOURCES MENTIONED

North American Mitochondrial Disease Consortium Patient Registry and Biorepository

https://www.clinicaltrials.gov/ct2/show/NCT01694940

Active and Enrolling Trials at Akron Children's Hospital

https://www.clinicaltrials.gov/ct2/results?locn=Akron+Children%27s+Hospital&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=

 

]]> full 81 false ENERGY IN ACTION - EPISODE 081

Akron Children’s Hospital - Meet the Mito Clinic Team

 

We are joined by Dr. Iam Rossman, Dr. Stephen Steiner, Dr. Abdu Alali and Nurse Coordinator, Kim Jaaeger— all clinic members from the Akron Children's Hospital Mitochondrial Center. 

 

EPISODE HIGHLIGHTS

 

What is the process for a patient to make an appointment?

We accept physician referrals and self-referrals and we see patients locally and regionally. Once a patient is accepted into the program, an authorization specialist will check benefit coverage and before the initial appointment, we have an internal discussion to formulate a care plan. A patient can expect the initial appointment to take place in as little as two months. 

 

What pre-qualifications are required to be accepted?

We don't require a confirmed diagnosis and we also see patients who are highly suspected to have mitochondrial disorder based on clinical history, laboratory findings and family history. 

 

What is a patient's first visit like and how can they prepare?

Just like most new patient evaluations, it's helpful to come with any data and imaging they have. Before the appointment, we will obtain records from other providers to preview as a team. Patients can expect a pretty long visit that doesn't feel rushed so we can get to know them and their medical history. Patients can make a list in advance of any questions they have along with their goals for the visit.

 

Can you talk about the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) initiative and how patients can get involved?

The overarching goal is to find out more about our patients in order to help them and also future patients. One of the ways we're doing that is through obtaining samples and banking them in the repository so that researchers have access to perform high-quality research. A patient must have an established genetic diagnosis to participate. 

 

How does a bio bank facilitate research and how are samples shared?

We collect samples with the goal to have clinical information tied to DNA available to then do further research and look at a bigger group of patients. Samples aren't associated with a patient's name. Instead they're de-identified, which allows a patient to contribute to our global understanding of a disorder and remain anonymous. 



LINKS & RESOURCES MENTIONED

North American Mitochondrial Disease Consortium Patient Registry and Biorepository

https://www.clinicaltrials.gov/ct2/show/NCT01694940

Active and Enrolling Trials at Akron Children's Hospital

https://www.clinicaltrials.gov/ct2/results?locn=Akron+Children%27s+Hospital&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=

 

CONNECT WITH AKRON CHILDREN’S HOSPITAL 

Akron Children's Hospital, Mitochondrial Center Website

https://www.akronchildrens.org/departments/Mitochondrial-Center.html

Email Mitochondrial Center

mito@akronchildrens.org

Phone (330) 543-6486

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:36:53 <![CDATA[A Painful Identity]]> Wed, 17 May 2023 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1478799 https://energy-in-action-by-mitoaction.castos.com/episodes/a-painful-identity PARENTS AS RARE - EPISODE 083

A Painful Identity - Renuka Dhinakaran

 

Renuka Dhinakaran is an international labor lawyer, mom, chronic illness patient and an incredible patient advocate. 



EPISODE HIGHLIGHTS

 

Will you start with sharing about yourself?

I'm 38 years old, married and living in the Netherlands, originally from India. I have a son who is 10 years old and I'm an international lawyer with my own law practice. I had a wonderful life until 4 years ago when chronic illness became the new normal for me. 

 

Where did your chronic condition journey start?

I was a premature baby and I was sick a lot as a child. I remember being in pain quite often and as a teenager was diagnosed with PCOS and endometriosis. I was later diagnosed with hypermobile Ehlers-Danlos syndrome. The turning point was my pregnancy when I suffered with back pain. After I gave birth, I was told I had degenerative disc disease and a pelvic dislocation. I went on to develop anxiety, hypertension, asthma, gallstones, allergies, migraines and arthritis. 

 

What's your advice for parenting with chronic illness?

I learned the hard way to erase guilt from my vocabulary. I have also learned to pick my lane. I'm in charge of overseeing my son's health and academics. His father handles logistics, sports and activities. The best suggestion I have for parents with chronic illness is to pick one lane where you can contribute, even on your bad days, that no one else can do. Acceptance and commitment therapy has also been helpful to accept the way things are, figuring out a plan and committing to it. 




LINKS & RESOURCES MENTIONED

Renuka Dhinakaran on Twitter

https://twitter.com/renudhinakaran

A Painful Identity

https://www.apainfulidentity.com/



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

]]> full 82 false PARENTS AS RARE - EPISODE 083

A Painful Identity - Renuka Dhinakaran

 

Renuka Dhinakaran is an international labor lawyer, mom, chronic illness patient and an incredible patient advocate. 



EPISODE HIGHLIGHTS

 

Will you start with sharing about yourself?

I'm 38 years old, married and living in the Netherlands, originally from India. I have a son who is 10 years old and I'm an international lawyer with my own law practice. I had a wonderful life until 4 years ago when chronic illness became the new normal for me. 

 

Where did your chronic condition journey start?

I was a premature baby and I was sick a lot as a child. I remember being in pain quite often and as a teenager was diagnosed with PCOS and endometriosis. I was later diagnosed with hypermobile Ehlers-Danlos syndrome. The turning point was my pregnancy when I suffered with back pain. After I gave birth, I was told I had degenerative disc disease and a pelvic dislocation. I went on to develop anxiety, hypertension, asthma, gallstones, allergies, migraines and arthritis. 

 

What's your advice for parenting with chronic illness?

I learned the hard way to erase guilt from my vocabulary. I have also learned to pick my lane. I'm in charge of overseeing my son's health and academics. His father handles logistics, sports and activities. The best suggestion I have for parents with chronic illness is to pick one lane where you can contribute, even on your bad days, that no one else can do. Acceptance and commitment therapy has also been helpful to accept the way things are, figuring out a plan and committing to it. 




LINKS & RESOURCES MENTIONED

Renuka Dhinakaran on Twitter

https://twitter.com/renudhinakaran

A Painful Identity

https://www.apainfulidentity.com/



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:36:45 <![CDATA[Jireh Somera - Fabry Fighter]]> Wed, 26 Apr 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1463265 https://energy-in-action-by-mitoaction.castos.com/episodes/jireh-somera-fabry-fighter PARENTS AS RARE - EPISODE 080

Jireh Somera - Fabry Fighter

 

Jireh Somera is a husband, father and Fabry fighter. While our rare disease journeys have been different, we share a lot of similarities and it's nice to have someone to relate to. In this episode, Jireh shares some of his journey with us, giving us insight into staying present, shifting perspective and trusting the road ahead, knowing that it's not what he can't do, but what he can do. 

 

EPISODE HIGHLIGHTS

 

What was life like leading up to your diagnosis?

In 2020, my son was born and I was a new dad. I took the opportunity to work at home and embraced my time with him and my wife. My career was where I wanted it to be and we had just bought a home. 

 

What were your first symptoms?

I didn't know I had symptoms of Fabry disease-- I just thought I had normal headaches or elevated blood pressure. I went to work with a headache, assuming it was allergies, had coffee, took a pain reliever and by the evening the headache came back. That night, I yelled in my sleep and my wife woke up to find me unresponsive. A CT scan revealed that I had a brain bleed, I was admitted to the ICU and a stint was implanted. Through that procedure, doctors discovered abnormal blood vessels in my neck, which triggered follow-up appointments, meeting with a geneticist and receiving a diagnosis.

 

What was your experience after being diagnosed when living up to your expectations as a dad and husband were so important to you before? 

It was a struggle in the beginning and still presents opportunities for me to work on today. I put a lot of emphasis on what a good father and husband looks like and once I realized those were just my expectations and not who I needed to be, which helped have an overall change in mindset. My wife, family and friends also play a big role in my continued change of mindset. 

 

How have you adapted the way you interact with your son?

Since he's little, most activities we do are adaptable. With the mobility issues that resulted from my strokes, I have found ways to play, sitting in a chair so I don't have to stand. I appreciate the family support we have with caring for my son. They help him with the things I can't and I stay focused on what I can still do for him. Even though he's two years old, it's been helpful to be honest about the boundaries and what is and isn't okay to do with me.



LINKS & RESOURCES MENTIONED

Jireh on Instagram

https://www.instagram.com/hello_my_name_is_jireh/

Rare Is Everywhere book by Deborah R. Katz

https://bookshop.org/p/books/rare-is-everywhere-deborah-r-katz/14471617

Fabry Support & Information Group

https://fabry.org/

National Fabry Disease Foundation

]]> full 80 false PARENTS AS RARE - EPISODE 080

Jireh Somera - Fabry Fighter

 

Jireh Somera is a husband, father and Fabry fighter. While our rare disease journeys have been different, we share a lot of similarities and it's nice to have someone to relate to. In this episode, Jireh shares some of his journey with us, giving us insight into staying present, shifting perspective and trusting the road ahead, knowing that it's not what he can't do, but what he can do. 

 

EPISODE HIGHLIGHTS

 

What was life like leading up to your diagnosis?

In 2020, my son was born and I was a new dad. I took the opportunity to work at home and embraced my time with him and my wife. My career was where I wanted it to be and we had just bought a home. 

 

What were your first symptoms?

I didn't know I had symptoms of Fabry disease-- I just thought I had normal headaches or elevated blood pressure. I went to work with a headache, assuming it was allergies, had coffee, took a pain reliever and by the evening the headache came back. That night, I yelled in my sleep and my wife woke up to find me unresponsive. A CT scan revealed that I had a brain bleed, I was admitted to the ICU and a stint was implanted. Through that procedure, doctors discovered abnormal blood vessels in my neck, which triggered follow-up appointments, meeting with a geneticist and receiving a diagnosis.

 

What was your experience after being diagnosed when living up to your expectations as a dad and husband were so important to you before? 

It was a struggle in the beginning and still presents opportunities for me to work on today. I put a lot of emphasis on what a good father and husband looks like and once I realized those were just my expectations and not who I needed to be, which helped have an overall change in mindset. My wife, family and friends also play a big role in my continued change of mindset. 

 

How have you adapted the way you interact with your son?

Since he's little, most activities we do are adaptable. With the mobility issues that resulted from my strokes, I have found ways to play, sitting in a chair so I don't have to stand. I appreciate the family support we have with caring for my son. They help him with the things I can't and I stay focused on what I can still do for him. Even though he's two years old, it's been helpful to be honest about the boundaries and what is and isn't okay to do with me.



LINKS & RESOURCES MENTIONED

Jireh on Instagram

https://www.instagram.com/hello_my_name_is_jireh/

Rare Is Everywhere book by Deborah R. Katz

https://bookshop.org/p/books/rare-is-everywhere-deborah-r-katz/14471617

Fabry Support & Information Group

https://fabry.org/

National Fabry Disease Foundation

https://www.fabrydisease.org

AllStripes

https://www.allstripes.com/

Global Genes

https://globalgenes.org/



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:47:22 <![CDATA[Monica and John Cline - Forever Gift of Compassion - Live Like JoJo]]> Wed, 19 Apr 2023 16:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1460963 https://energy-in-action-by-mitoaction.castos.com/episodes/monica-and-john-cline-forever-gift-of-compassion-live-like-jojo ENERGY IN ACTION - EPISODE 078

Monica and John Cline - Forever Gift of Compassion - Live Like JoJo

 

Monica and John Cline are the parents to JoJo, who was born with mitochondrial deletion syndrome. His parents continue his legacy through the Live Like Jojo Foundation. Their vision is that every child, regardless of their healthcare challenges, are given the opportunity to experience a joy-filled life and meaningful experiences with their families.

 

EPISODE HIGHLIGHTS

 

Can you tell us about JoJo?

We're blessed to have four boys and Jordan was son number three. The pregnancy was pretty normal and he came home as expected. He breastfed as normal initially, but his weight was decreasing and the pediatrician thought starting solids would help to increase his calorie intake. At about 18 months old, JoJo fell off the growth curve and that started our diagnosis journey. 

 

What was your experience like parenting three other children?

Jordan was a blessing to his brothers and they kept him as active as can be. His brothers added a normal aspect to his life, having fun and playing as siblings do. They were all very close and they looked out for him. We tried to do things together to prevent a separation of our child who was sick and the other children. That helped to ensure everyone experienced connected, precious memories. 

 

Can you share about the foundation you've founded?

Jordan was a great connector and it was a special gift. He connected with so many people and that community helped us to grow his story. The nonprofit offers initiatives to families that include family photos, sunshine boxes for children with metabolic diseases, and thanksgiving baskets for families staying at the hospital through the holiday. We also host walks, family experiences and retreats.

 

Besides the foundation, how else does your family continue to honor JoJo's life?

We speak of him often, have photos out and watch videos. We visit places in our neighborhood where we feel close to him and keep ongoing connections with his healthcare providers. It keeps his presence in the present and keeps his memory alive. 

 

What's the biggest takeaway from JoJo's life?

We were so blessed to have Jordan in our lives. We believe he was meant to be in our family and that we'll see him again. That hope gives us joy in our grief and helps us have continued purpose and energy to keep going. 

 

LINKS & RESOURCES MENTIONED

Live Like JoJo Website

https://livelikejojo.org/

Live Like JoJo Initiatives

https://livelikejojo.org/what-we-do/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

]]> full 79 false ENERGY IN ACTION - EPISODE 078

Monica and John Cline - Forever Gift of Compassion - Live Like JoJo

 

Monica and John Cline are the parents to JoJo, who was born with mitochondrial deletion syndrome. His parents continue his legacy through the Live Like Jojo Foundation. Their vision is that every child, regardless of their healthcare challenges, are given the opportunity to experience a joy-filled life and meaningful experiences with their families.

 

EPISODE HIGHLIGHTS

 

Can you tell us about JoJo?

We're blessed to have four boys and Jordan was son number three. The pregnancy was pretty normal and he came home as expected. He breastfed as normal initially, but his weight was decreasing and the pediatrician thought starting solids would help to increase his calorie intake. At about 18 months old, JoJo fell off the growth curve and that started our diagnosis journey. 

 

What was your experience like parenting three other children?

Jordan was a blessing to his brothers and they kept him as active as can be. His brothers added a normal aspect to his life, having fun and playing as siblings do. They were all very close and they looked out for him. We tried to do things together to prevent a separation of our child who was sick and the other children. That helped to ensure everyone experienced connected, precious memories. 

 

Can you share about the foundation you've founded?

Jordan was a great connector and it was a special gift. He connected with so many people and that community helped us to grow his story. The nonprofit offers initiatives to families that include family photos, sunshine boxes for children with metabolic diseases, and thanksgiving baskets for families staying at the hospital through the holiday. We also host walks, family experiences and retreats.

 

Besides the foundation, how else does your family continue to honor JoJo's life?

We speak of him often, have photos out and watch videos. We visit places in our neighborhood where we feel close to him and keep ongoing connections with his healthcare providers. It keeps his presence in the present and keeps his memory alive. 

 

What's the biggest takeaway from JoJo's life?

We were so blessed to have Jordan in our lives. We believe he was meant to be in our family and that we'll see him again. That hope gives us joy in our grief and helps us have continued purpose and energy to keep going. 

 

LINKS & RESOURCES MENTIONED

Live Like JoJo Website

https://livelikejojo.org/

Live Like JoJo Initiatives

https://livelikejojo.org/what-we-do/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:39:38 <![CDATA[Rare Revolution]]> Wed, 15 Mar 2023 14:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1436395 https://energy-in-action-by-mitoaction.castos.com/episodes/rare-revolution PARENTS AS RARE - EPISODE 077

A Rare Revolution - HITMC Meets Rare Disease with Grace Vinton, Kristy Dickinson, & Effie Parks

 

Grace Vinton, Kristy Dickinson and Effie Parks join me to continue our conversations from the Healthcare and IT Marketing Conference in February. Enjoy this special cross-collaboration of HIT Like a Girl, Parents As Rare, Once Upon a Gene, and Simply Unbreakable. Be sure to check out these podcasts and I'd like to also encourage you to take one actionable step this month to empower the rare disease voice in some way!

 

EPISODE HIGHLIGHTS

 

Kristy, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? 

I was diagnosed at the age of 37 with Ehlers-Danlos syndrome, for which there's currently no cure. My journey to diagnosis was bumpy and I experienced a lot of misdiagnosis, treatments that failed, tests, procedures and twists and turns. It was a serendipitous event that ultimately led me to my diagnosis. With a patient-centered healthcare system, it wouldn't have taken me so long to get diagnosed because my condition is genetic and I had numerous incidents through childhood and young adulthood where my disease presented itself. I got my diagnosis by seeing a nutritionist when everything else had failed. I have made it my life's mission to continue to help the rear community in any way that I can. I founded a company called Chronically Simple, a web-based and mobile app that serves as a disease management tool.

 

Adam, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? 

About four years ago, I was a pretty healthy young guy when symptoms started popping up out of seemingly nowhere. About two years ago, I got involved in social media and advocacy, trying to find community. I felt so isolated and so alone as a parent who was going through this and working through a rare disease diagnosis. Through social media, I found community, really helpful resources, and I was excited to finally be able to not feel so alone. About a year ago, I started my own podcast and started doing speaking engagements and it's been really a wonderful journey since then. I call myself a dadvocate- I'm a dad first and a rare disease advocate second. 

 

Effie, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? 

My husband and I always wanted to be parents and we were so excited when our first little baby was coming. We had ideas, plans and fictional expectations, so we were shocked when he was born super small, and he wouldn't eat, sleep or do anything typically developing babies would do. We were brushed off for four months by doctors telling us we were just worried new parents. And finally he was admitted into a children's hospital for about a week where a geneticist ordered whole exome sequencing. They took samples from my husband and I and about eight months later we got a diagnosis of a rare disorder called CTNNB1. The geneticist told us that he was number 30 in the world with that diagnosis and that she didn't know anything about it. After about two years of trying to find answers and figure out what to do for my son myself, and trying to navigate the healthcare system with no luck, I started a podcast as a platform to tell my story and to hold a place for other people to do the same. 

 

Effie, how does the diagnostic odyssey add color and commentary to the healthcare and healthcare innovation landscape and why is the rare experience so different from other pa...

]]> full 77 false PARENTS AS RARE - EPISODE 077

A Rare Revolution - HITMC Meets Rare Disease with Grace Vinton, Kristy Dickinson, & Effie Parks

 

Grace Vinton, Kristy Dickinson and Effie Parks join me to continue our conversations from the Healthcare and IT Marketing Conference in February. Enjoy this special cross-collaboration of HIT Like a Girl, Parents As Rare, Once Upon a Gene, and Simply Unbreakable. Be sure to check out these podcasts and I'd like to also encourage you to take one actionable step this month to empower the rare disease voice in some way!

 

EPISODE HIGHLIGHTS

 

Kristy, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? 

I was diagnosed at the age of 37 with Ehlers-Danlos syndrome, for which there's currently no cure. My journey to diagnosis was bumpy and I experienced a lot of misdiagnosis, treatments that failed, tests, procedures and twists and turns. It was a serendipitous event that ultimately led me to my diagnosis. With a patient-centered healthcare system, it wouldn't have taken me so long to get diagnosed because my condition is genetic and I had numerous incidents through childhood and young adulthood where my disease presented itself. I got my diagnosis by seeing a nutritionist when everything else had failed. I have made it my life's mission to continue to help the rear community in any way that I can. I founded a company called Chronically Simple, a web-based and mobile app that serves as a disease management tool.

 

Adam, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? 

About four years ago, I was a pretty healthy young guy when symptoms started popping up out of seemingly nowhere. About two years ago, I got involved in social media and advocacy, trying to find community. I felt so isolated and so alone as a parent who was going through this and working through a rare disease diagnosis. Through social media, I found community, really helpful resources, and I was excited to finally be able to not feel so alone. About a year ago, I started my own podcast and started doing speaking engagements and it's been really a wonderful journey since then. I call myself a dadvocate- I'm a dad first and a rare disease advocate second. 

 

Effie, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? 

My husband and I always wanted to be parents and we were so excited when our first little baby was coming. We had ideas, plans and fictional expectations, so we were shocked when he was born super small, and he wouldn't eat, sleep or do anything typically developing babies would do. We were brushed off for four months by doctors telling us we were just worried new parents. And finally he was admitted into a children's hospital for about a week where a geneticist ordered whole exome sequencing. They took samples from my husband and I and about eight months later we got a diagnosis of a rare disorder called CTNNB1. The geneticist told us that he was number 30 in the world with that diagnosis and that she didn't know anything about it. After about two years of trying to find answers and figure out what to do for my son myself, and trying to navigate the healthcare system with no luck, I started a podcast as a platform to tell my story and to hold a place for other people to do the same. 

 

Effie, how does the diagnostic odyssey add color and commentary to the healthcare and healthcare innovation landscape and why is the rare experience so different from other patient and caregiver experiences?

It's different because nobody's trained in this. Medical schools teach that if you hear hoof beats, think horse, not zebra. And so the rare disease community has taken Zebras and used them as our mascot now. My hope is that this odyssey and trauma will be lessened because we're finding more correlation between rare diseases and certain symptoms and illnesses now. 

 

Adam, how does this diagnostic odyssey showcase what's actually going on?

I relate it back to pre-rare disease life. I would go to the doctor, expect an answer, and they would give me some kind of solution so I could move on with life as I knew it. I traveled almost 5,000 miles to three different states and to multiple specialists to get a diagnosis. We need to be heard. Our voices matter. Our experiences matter, and they need to be at the forefront. So we need to come together to elevate this and innovate and shorten the diagnostic odyssey. I think conversations like this can be a great jumping off point. 

 

Kristy, what collaborations are the most common for rare disease patients and caregivers with healthcare, technology, and pharma?

A good collaboration is when you have all of the required stakeholders at the table, and everyone is treated with the same level of respect. Traditionally in healthcare, patients and caregivers aren't at the table. What's different in the rare disease space is that patients or caregivers are often educating. We are the ones that know our diseases inside and out. A pharma manufacturer, digital health tech company or a hospital system wouldn't build a solution without the experts, and not only are the patients and  caregivers experts, but they're also teachers. The best collaborations that I've been involved in are the ones that I have participated in from the beginning and where I've remained a respected partner every step of the way.

 

Effie, how can the HITMC community better incorporate the rare disease patient and caregiver voice into the work they do?

 

Sharing our content, reading our content, coming to our conferences, being a part of the community, dipping into our podcasts, listening to our stories and making an effort to understand this forgotten demographic that nobody has anything to do with.



LINKS & RESOURCES MENTIONED

Chronically Simple & Simply Unbreakable – Kristy Dickinson

https://www.mitoaction.org/resources/par-chronically-simple/

Exploring Palliative Care

https://www.mitoaction.org/resources/exploring-palliative-care/

HIT Like a Girl

https://www.hitlikeagirlpod.com/episodes

Simply Unbreakable

https://www.chronicallysimple.com/podcast

Once Upon A Gene

https://effieparks.com/podcast

Connect with Grace Vinton

https://www.linkedin.com/in/gracevinton/

Connect with Kristy Dickinson

https://twitter.com/SimplyKristyD

Connect with Effie Parks

https://twitter.com/OnceUponAGene

Healthcare and IT Marketing Conference

https://healthitmarketingconference.com/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:48:49 <![CDATA[Dr. Neena Nizar - Share Your #RareDiseaseTruth & Give Love A Chance]]> Wed, 15 Feb 2023 16:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1405801 https://energy-in-action-by-mitoaction.castos.com/episodes/dr-neena-nizar-share-your-rarediseasetruth-give-love-a-chance PARENTS AS RARE - EPISODE 076 Dr. Neena Nizar - Share Your #RareDiseaseTruth & Give Love A Chance Dr. Neena Nizar started the #rarediseasetruth movement. She was misdiagnosed for decades, but now knows she shares a diagnosis with her two sons. Neena is a wonderful person, incredible advocate and the founder of The Jansen's Foundation. EPISODE HIGHLIGHTS Can you tell us about yourself and your connection to the rare disease community? I have a rare disease called Jansen Metaphyseal Chondrodysplasia, a skeletal disorder that affects less than 30 people worldwide. I had several misdiagnoses and was finally diagnosed after I had my second son. I married my husband and we were told that we wouldn't have children. We were in the process of adopting when I became pregnant with our first son. He was born healthy and we didn't know anything was wrong. Two years later our second son was born and we were notified during the pregnancy that something wasn't right. That's where the quest began and we started searching for a diagnosis. What considerations did you and your husband have around starting a family? We talked about it and had no idea if what I had would be passed on because no one else in my family shared my disease. Because we didn't know at the time what I had or a good understanding of it and we really did believe the doctors that told us we wouldn't conceive. We had conversations around the love we had to give a child, whether natural or adopted, and we knew we were ready for it. How can someone respond when they're navigating diagnosis and feeling disregarded? I have learned to filter noise, to take away the emotion of a situation. If a doctor is saying something based on what he sees, I've learned in those instances to trust myself more. You owe it to yourself to be strong in those moments and see it for what it is-- that the doctor doesn't see or hear the full story. Can you tell us about the #rarediseasetruth movement? The hashtag was an organic creation that started during the pandemic. It upset me that covid treatments were released so quickly and it raised questions about why the rare disease community didn't have treatments. I started venting on social media, calling out that we matter too. The hashtag caught on fire in ways I couldn't have imagined and people still use it. It spotlights rare everyday, and we're growing the population of people who are speaking openly and fearlessly. LINKS & RESOURCES MENTIONED Hashtag #rarediseasetruth https://twitter.com/hashtag/RareDiseaseTruth?src=hashtag_click Neena Nizar on Twitter https://twitter.com/NeenaNizar The Jansen's Foundation https://www.thejansensfoundation.org/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125 CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

]]> full 76 false PARENTS AS RARE - EPISODE 076 Dr. Neena Nizar - Share Your #RareDiseaseTruth & Give Love A Chance Dr. Neena Nizar started the #rarediseasetruth movement. She was misdiagnosed for decades, but now knows she shares a diagnosis with her two sons. Neena is a wonderful person, incredible advocate and the founder of The Jansen's Foundation. EPISODE HIGHLIGHTS Can you tell us about yourself and your connection to the rare disease community? I have a rare disease called Jansen Metaphyseal Chondrodysplasia, a skeletal disorder that affects less than 30 people worldwide. I had several misdiagnoses and was finally diagnosed after I had my second son. I married my husband and we were told that we wouldn't have children. We were in the process of adopting when I became pregnant with our first son. He was born healthy and we didn't know anything was wrong. Two years later our second son was born and we were notified during the pregnancy that something wasn't right. That's where the quest began and we started searching for a diagnosis. What considerations did you and your husband have around starting a family? We talked about it and had no idea if what I had would be passed on because no one else in my family shared my disease. Because we didn't know at the time what I had or a good understanding of it and we really did believe the doctors that told us we wouldn't conceive. We had conversations around the love we had to give a child, whether natural or adopted, and we knew we were ready for it. How can someone respond when they're navigating diagnosis and feeling disregarded? I have learned to filter noise, to take away the emotion of a situation. If a doctor is saying something based on what he sees, I've learned in those instances to trust myself more. You owe it to yourself to be strong in those moments and see it for what it is-- that the doctor doesn't see or hear the full story. Can you tell us about the #rarediseasetruth movement? The hashtag was an organic creation that started during the pandemic. It upset me that covid treatments were released so quickly and it raised questions about why the rare disease community didn't have treatments. I started venting on social media, calling out that we matter too. The hashtag caught on fire in ways I couldn't have imagined and people still use it. It spotlights rare everyday, and we're growing the population of people who are speaking openly and fearlessly. LINKS & RESOURCES MENTIONED Hashtag #rarediseasetruth https://twitter.com/hashtag/RareDiseaseTruth?src=hashtag_click Neena Nizar on Twitter https://twitter.com/NeenaNizar The Jansen's Foundation https://www.thejansensfoundation.org/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125 CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

]]> 00:43:42 <![CDATA[Dalia’s Wish Makes Dreams Come True for the Del Forno Family]]> Wed, 08 Feb 2023 18:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1403350 https://energy-in-action-by-mitoaction.castos.com/episodes/dalias-wish-makes-dreams-come-true-for-the-del-forno-family ENERGY IN ACTION - EPISODE 075

Dalia’s Wish Makes Dreams Come True for the Del Forno Family

 

Nicole Del Forno is the mom of Gloria. Her family recently went on a wish trip at Give Kids the World Village and she joins us to share their experience.

 

EPISODE HIGHLIGHTS

 

Can you tell us about your family and rare disease journey?

My daughter Gloria was born in 2018. At about 6 months old, we noticed she was reaching most milestones, but not babbling like a typical baby her age. At 9 months old, we were referred to a neurologist and then a geneticist. After genetic testing, we received a diagnosis of mitochondrial disease. Two years later with treatment, Gloria has progressed and we're fortunate that she's doing really well.

 

Your family was a recent recipient of Dalia's Wish program. Can you talk about your experience?

We were so excited to be granted the trip and couldn't imagine how wonderful it would be. Her school announced the trip to her with all of her friends present and it was such a cool experience. We spent a week at Give Kids the World Village and we didn't have to worry about a single thing. It is the most magical place and Gloria felt like a normal person there, everything was accessible, she had the freedom to be independent and everyone spoke her language. All of the volunteers work so hard to make kids feel special. 

 

What was your favorite part of your family's wish trip?

My favorite moment of the whole experience was when Gloria went into the ice cream parlor and got her own ice cream and sprinkles because this was the first time that she was able to do something completely independent, without prompting or support. 

 

What is your advice to other families granted a trip through Delia's Wish program?

There are Give Kids the World Village groups you can join on social media where you can get information about the village and everything else you need to know. If you come in the summer, be prepared for Florida's hot weather. Plan to spend a lot of time at the village because there is a lot to do there.



LINKS & RESOURCES MENTIONED

Give Kids the World Village

https://www.gktw.org/

Dalia’s Wish

https://www.mitoaction.org/wishes/

MitoSantas

https://www.mitoaction.org/mito-santas/

MitoAction Newsletter

https://www.mitoaction.org/newsletter-signup/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

]]> full 75 false ENERGY IN ACTION - EPISODE 075

Dalia’s Wish Makes Dreams Come True for the Del Forno Family

 

Nicole Del Forno is the mom of Gloria. Her family recently went on a wish trip at Give Kids the World Village and she joins us to share their experience.

 

EPISODE HIGHLIGHTS

 

Can you tell us about your family and rare disease journey?

My daughter Gloria was born in 2018. At about 6 months old, we noticed she was reaching most milestones, but not babbling like a typical baby her age. At 9 months old, we were referred to a neurologist and then a geneticist. After genetic testing, we received a diagnosis of mitochondrial disease. Two years later with treatment, Gloria has progressed and we're fortunate that she's doing really well.

 

Your family was a recent recipient of Dalia's Wish program. Can you talk about your experience?

We were so excited to be granted the trip and couldn't imagine how wonderful it would be. Her school announced the trip to her with all of her friends present and it was such a cool experience. We spent a week at Give Kids the World Village and we didn't have to worry about a single thing. It is the most magical place and Gloria felt like a normal person there, everything was accessible, she had the freedom to be independent and everyone spoke her language. All of the volunteers work so hard to make kids feel special. 

 

What was your favorite part of your family's wish trip?

My favorite moment of the whole experience was when Gloria went into the ice cream parlor and got her own ice cream and sprinkles because this was the first time that she was able to do something completely independent, without prompting or support. 

 

What is your advice to other families granted a trip through Delia's Wish program?

There are Give Kids the World Village groups you can join on social media where you can get information about the village and everything else you need to know. If you come in the summer, be prepared for Florida's hot weather. Plan to spend a lot of time at the village because there is a lot to do there.



LINKS & RESOURCES MENTIONED

Give Kids the World Village

https://www.gktw.org/

Dalia’s Wish

https://www.mitoaction.org/wishes/

MitoSantas

https://www.mitoaction.org/mito-santas/

MitoAction Newsletter

https://www.mitoaction.org/newsletter-signup/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:27:18 <![CDATA[Exploring Palliative Care]]> Wed, 18 Jan 2023 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1378254 https://energy-in-action-by-mitoaction.castos.com/episodes/exploring-palliative-care  

PARENTS AS RARE - EPISODE 074

Exploring Palliative Care

 

Kimberly Matias, a social worker, and Michelle Hurty, a physician assistant, join me for an exploratory conversation about palliative care to dispel the myths that exist and provide information to my listeners. 

 

EPISODE HIGHLIGHTS

 

What is palliative care?

Palliative care is a multi-disciplinary service that gets involved with patients and their families after the diagnosis of a serious or life-limiting illness. We work alongside the primary care team to coordinate communication, clarify any confusion or information, help the family along the journey and explore treatment goals. While hospice service is focused on end-of-life care with a six month or less prognosis, life expectancy isn't a condition for palliative service and we may work with patients for many, many years. Our role is to advocate for the patient. 

 

Who makes up a palliative care team?

In order to provide full care, most palliative care teams have a multi-disciplinary team which may include a social worker, chaplain, physicians, a physician assistant, nurse practitioner and pharmacist. 

 

With disease progression and symptom presentation being different for every patient, who is a good candidate for palliative care?

Our goal is to capture people upstream, recognizing their treatment goals are going to change over time as their disease progresses or evolves. Palliate care is for any point after someone receives a diagnosis and we're happy to get involved and be helpful all along the way. 

 

At an initial palliative care appointment, what questions are helpful to patients and families to ask and how can they prepare? 

Go in with an open mind, be open to having conversations and consider what you would like your healthcare to look like. It's helpful to think in advance about how things are going at home and what kind of resources are needed. Identify your durable power of attorney for healthcare in advance and if you have a living will, bring those documents with you.



LINKS & RESOURCES MENTIONED

Get Palliative Care

https://getpalliativecare.org/

American Academy of Hospice and Palliative Medicine

https://aahpm.org/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https:...

]]> full 74 false  

PARENTS AS RARE - EPISODE 074

Exploring Palliative Care

 

Kimberly Matias, a social worker, and Michelle Hurty, a physician assistant, join me for an exploratory conversation about palliative care to dispel the myths that exist and provide information to my listeners. 

 

EPISODE HIGHLIGHTS

 

What is palliative care?

Palliative care is a multi-disciplinary service that gets involved with patients and their families after the diagnosis of a serious or life-limiting illness. We work alongside the primary care team to coordinate communication, clarify any confusion or information, help the family along the journey and explore treatment goals. While hospice service is focused on end-of-life care with a six month or less prognosis, life expectancy isn't a condition for palliative service and we may work with patients for many, many years. Our role is to advocate for the patient. 

 

Who makes up a palliative care team?

In order to provide full care, most palliative care teams have a multi-disciplinary team which may include a social worker, chaplain, physicians, a physician assistant, nurse practitioner and pharmacist. 

 

With disease progression and symptom presentation being different for every patient, who is a good candidate for palliative care?

Our goal is to capture people upstream, recognizing their treatment goals are going to change over time as their disease progresses or evolves. Palliate care is for any point after someone receives a diagnosis and we're happy to get involved and be helpful all along the way. 

 

At an initial palliative care appointment, what questions are helpful to patients and families to ask and how can they prepare? 

Go in with an open mind, be open to having conversations and consider what you would like your healthcare to look like. It's helpful to think in advance about how things are going at home and what kind of resources are needed. Identify your durable power of attorney for healthcare in advance and if you have a living will, bring those documents with you.



LINKS & RESOURCES MENTIONED

Get Palliative Care

https://getpalliativecare.org/

American Academy of Hospice and Palliative Medicine

https://aahpm.org/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:48:23 <![CDATA[Challenging the Status Quo - Robin Powers]]> Wed, 21 Dec 2022 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1349846 https://energy-in-action-by-mitoaction.castos.com/episodes/challenging-the-status-quo-robin-powers  

PARENTS AS RARE - EPISODE 073

Challenging The Status Quo - Robin Powers 

 

Robin Powers is a mother who has a rare disease and she's raising a son who has a rare disease. She's a single parent going to school, yet she still manages to knock out important advocacy-related work and projects, all while supporting others. We discuss navigating parenting as parents with rare diseases.

 

EPISODE HIGHLIGHTS

 

Can you share what your connection to Ehlers-Danlos syndrome (EDS) is?

As a teen, I dislocated my knee in my sleep. I did my research and proposed to my physician that I had EDS. I saw a geneticist to get diagnosed and subsequently found support in the rare community. 

 

What is the importance of having perseverance through the diagnostic odyssey?

I like to challenge the status quo because if you don't do it, no one else is going to do it after you. I've seen my son stand up for himself and advocate for himself many times and it wasn't because I taught him to do it-- he saw me doing it. I personally took the statistics and changed the odds by changing the factors and becoming more perseverant, not taking n for an answer, taking every opportunity I could find, and never being too afraid to ask. I knew that would turn my hope into action and would make things very possible. 

 

What is your experience parenting while having a rare disease?

It's challenging to not have a caregiver and need a caregiver and then care for someone else and be their rare champion of hope. It's taxing and emotional because I always feel like I'm failing and I feel guilt when I need to rest or something that takes away from my son and our time together. I worry about him in the future and hope that what I'm adding to his life isn't going to be a deficit. 

 

How do you manage being a parent with a rare disease and parenting a child with a rare disease?

I'm a single parent and I am the only raregiver. When managing our conditions, I always address any concerns for him first because he's depending on me. Even though I should put my oxygen mask on first, I know I can probably hold my breath for a little while. I remember suffering at his age and not having help and I won't have the same for my son. So I hold my breath, take care of my son and do the best I can to take care of myself. 

 

What tips do you have for parents in a similar situation, having a rare disease and parenting a child with rare disease?

I came up with the terms rareabilty and rareativity. Rareativity is accepting what you can do for the day. If you have ten things to do, but you can only do three, postpone the remaining seven things for the next day. I accept that I can only do what I can do. Rareability is the idea of bracing the things that you're good at and fostering the skills you're good at. I use mindfulness to stay ahead in the game, to be mindful of the fact that I shouldn't be hard on myself for something and that I'm doing the best I can. Mindfulness of reality makes me feel lucky to have life, despite how hard it is. 



LINKS & RESOURCES MENTIONED

The Disorder Channel

https://www.thedisordercollection.com/

Beyond Limits: Rare Men Talking Mental Health

]]> full 73 false  

PARENTS AS RARE - EPISODE 073

Challenging The Status Quo - Robin Powers 

 

Robin Powers is a mother who has a rare disease and she's raising a son who has a rare disease. She's a single parent going to school, yet she still manages to knock out important advocacy-related work and projects, all while supporting others. We discuss navigating parenting as parents with rare diseases.

 

EPISODE HIGHLIGHTS

 

Can you share what your connection to Ehlers-Danlos syndrome (EDS) is?

As a teen, I dislocated my knee in my sleep. I did my research and proposed to my physician that I had EDS. I saw a geneticist to get diagnosed and subsequently found support in the rare community. 

 

What is the importance of having perseverance through the diagnostic odyssey?

I like to challenge the status quo because if you don't do it, no one else is going to do it after you. I've seen my son stand up for himself and advocate for himself many times and it wasn't because I taught him to do it-- he saw me doing it. I personally took the statistics and changed the odds by changing the factors and becoming more perseverant, not taking n for an answer, taking every opportunity I could find, and never being too afraid to ask. I knew that would turn my hope into action and would make things very possible. 

 

What is your experience parenting while having a rare disease?

It's challenging to not have a caregiver and need a caregiver and then care for someone else and be their rare champion of hope. It's taxing and emotional because I always feel like I'm failing and I feel guilt when I need to rest or something that takes away from my son and our time together. I worry about him in the future and hope that what I'm adding to his life isn't going to be a deficit. 

 

How do you manage being a parent with a rare disease and parenting a child with a rare disease?

I'm a single parent and I am the only raregiver. When managing our conditions, I always address any concerns for him first because he's depending on me. Even though I should put my oxygen mask on first, I know I can probably hold my breath for a little while. I remember suffering at his age and not having help and I won't have the same for my son. So I hold my breath, take care of my son and do the best I can to take care of myself. 

 

What tips do you have for parents in a similar situation, having a rare disease and parenting a child with rare disease?

I came up with the terms rareabilty and rareativity. Rareativity is accepting what you can do for the day. If you have ten things to do, but you can only do three, postpone the remaining seven things for the next day. I accept that I can only do what I can do. Rareability is the idea of bracing the things that you're good at and fostering the skills you're good at. I use mindfulness to stay ahead in the game, to be mindful of the fact that I shouldn't be hard on myself for something and that I'm doing the best I can. Mindfulness of reality makes me feel lucky to have life, despite how hard it is. 



LINKS & RESOURCES MENTIONED

The Disorder Channel

https://www.thedisordercollection.com/

Beyond Limits: Rare Men Talking Mental Health

https://www.youtube.com/watch?v=BmQKPkT3kvs

Parents as Rare: Cowden Syndrome and Male Mental Health – David Ross

https://www.mitoaction.org/resources/par_davidross/

Parents as Rare Past Episodes

https://rarediseasedad.com/parents-as-rare-my-pod

Angel Aid

https://www.angelaidcares.org/

 

CONNECT WITH ROBIN

Twitter

https://twitter.com/Robin_Lexi

Linkedin

https://www.linkedin.com/in/robinapowers/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:42:00 <![CDATA[The Navigation Project]]> Wed, 07 Dec 2022 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1341835 https://energy-in-action-by-mitoaction.castos.com/episodes/the-navigation-project ENERGY IN ACTION - EPISODE 072

The Navigation Project

 

Lauren Kopsick and Ivy Braun are the founders of the Healthcare Navigation Project, formerly known as Parent It Forward. This is the first independent public healthcare literacy and life care project for all youth as they transition to adult care. They share their advice for transitional planning after pediatric care. 

 

EPISODE HIGHLIGHTS

 

Can you share what The Healthcare Navigation Project does?

We consist of five modules which includes basic healthcare navigation, navigating specialty healthcare, advocating for mental health, let's talk pharmacy and customer care and the future of healthcare. The program starts with basic healthcare navigation-- learning the 27 keywords you need to know and will teach you about developments and changes so patients and families are informed and they can share information with their doctors. This module also teaches patients how to pick a physician, about body language and telephone skills. A script is provided to call a physician's office so they know what questions they need to ask. In another module, we practice calling pharmacists and learning about medications and how to get them. In another module, we call 211, which is the keeper of every service for a state. 

 

What are the five guiding principles for advocating?

  1. If it doesn't make sense to you, it probably doesn't make sense and you shouldn't stop until you can make sense of it. 2. People are people-- good, bad and indifferent, and you don't have to engage with someone who makes you feel uncomfortable. 3. Research, research and more research. 4. Never give up anything once you have it. 5. The Patient Centered Medical Home.

 

Have you presented to rare disease groups?

We are working with the Taproot Foundation which acts as a recruiting firm for nonprofits. They're helping us with a program that will be in January 2023.

 

What is the importance of sharing what we know with others to build their healthcare knowledge and move expectations forward?

Patients and users of healthcare are the customers of the healthcare system, so if you're unhappy with a service, you have to push it forward. Learn the system and how to push forward and ask about other options. Keep pushing boundaries.

 

LINKS & RESOURCES MENTIONED

The Healthcare Navigation Project

https://thehealthcarenavigationproject.org/

National Committee of Quality Assurance

https://www.ncqa.org/

Got Transition

https://gottransition.org/

Taproot Foundation

https://taprootfoundation.org/ 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

]]> full 72 false ENERGY IN ACTION - EPISODE 072

The Navigation Project

 

Lauren Kopsick and Ivy Braun are the founders of the Healthcare Navigation Project, formerly known as Parent It Forward. This is the first independent public healthcare literacy and life care project for all youth as they transition to adult care. They share their advice for transitional planning after pediatric care. 

 

EPISODE HIGHLIGHTS

 

Can you share what The Healthcare Navigation Project does?

We consist of five modules which includes basic healthcare navigation, navigating specialty healthcare, advocating for mental health, let's talk pharmacy and customer care and the future of healthcare. The program starts with basic healthcare navigation-- learning the 27 keywords you need to know and will teach you about developments and changes so patients and families are informed and they can share information with their doctors. This module also teaches patients how to pick a physician, about body language and telephone skills. A script is provided to call a physician's office so they know what questions they need to ask. In another module, we practice calling pharmacists and learning about medications and how to get them. In another module, we call 211, which is the keeper of every service for a state. 

 

What are the five guiding principles for advocating?

  1. If it doesn't make sense to you, it probably doesn't make sense and you shouldn't stop until you can make sense of it. 2. People are people-- good, bad and indifferent, and you don't have to engage with someone who makes you feel uncomfortable. 3. Research, research and more research. 4. Never give up anything once you have it. 5. The Patient Centered Medical Home.

 

Have you presented to rare disease groups?

We are working with the Taproot Foundation which acts as a recruiting firm for nonprofits. They're helping us with a program that will be in January 2023.

 

What is the importance of sharing what we know with others to build their healthcare knowledge and move expectations forward?

Patients and users of healthcare are the customers of the healthcare system, so if you're unhappy with a service, you have to push it forward. Learn the system and how to push forward and ask about other options. Keep pushing boundaries.

 

LINKS & RESOURCES MENTIONED

The Healthcare Navigation Project

https://thehealthcarenavigationproject.org/

National Committee of Quality Assurance

https://www.ncqa.org/

Got Transition

https://gottransition.org/

Taproot Foundation

https://taprootfoundation.org/ 

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:44:04 <![CDATA[Good Grief and the Holidays]]> Wed, 23 Nov 2022 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1325999 https://energy-in-action-by-mitoaction.castos.com/episodes/good-grief-and-the-holidays ENERGY IN ACTION - EPISODE 071

Good Grief and the Holidays

 

Lisa Athan is the Founder and Executive Director of Griefspeaks. She shares tips and strategies for navigating grief through the holidays and beyond.

 

EPISODE HIGHLIGHTS

 

What tools can help someone to get through holidays without someone they've lost?

Have an exit strategy at gatherings and know it's okay to decline invitations to holiday events. Ensure you have options for yourself and give yourself permission to exercise your options. Record voice recordings to yourself saying whatever it is you need to hear in difficult moments. Think ahead to protect yourself by practicing lines to say to people. This will help you navigate being approached with questions or small talk when you're not in a place to discuss your grief. Make a list of the people, places and activities that make you feel a sense of strength. 

 

During the holidays, in what ways can people share memories and honor someone they've lost?

It's important to talk about the person you've lost and to let friends and family know it's okay to say their name and share stories. You can put a memory stocking or wreath up for the person and have friends and family share memories when they visit. Everyone processes grief differently and when it comes to family, it's important to talk about that.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 71 false ENERGY IN ACTION - EPISODE 071

Good Grief and the Holidays

 

Lisa Athan is the Founder and Executive Director of Griefspeaks. She shares tips and strategies for navigating grief through the holidays and beyond.

 

EPISODE HIGHLIGHTS

 

What tools can help someone to get through holidays without someone they've lost?

Have an exit strategy at gatherings and know it's okay to decline invitations to holiday events. Ensure you have options for yourself and give yourself permission to exercise your options. Record voice recordings to yourself saying whatever it is you need to hear in difficult moments. Think ahead to protect yourself by practicing lines to say to people. This will help you navigate being approached with questions or small talk when you're not in a place to discuss your grief. Make a list of the people, places and activities that make you feel a sense of strength. 

 

During the holidays, in what ways can people share memories and honor someone they've lost?

It's important to talk about the person you've lost and to let friends and family know it's okay to say their name and share stories. You can put a memory stocking or wreath up for the person and have friends and family share memories when they visit. Everyone processes grief differently and when it comes to family, it's important to talk about that.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:42:24 <![CDATA[Meeting My MELAS Mito Friend - Elizabeth Wood]]> Wed, 16 Nov 2022 15:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1319698 https://energy-in-action-by-mitoaction.castos.com/episodes/meeting-my-melas-mito-friend-elizabeth-wood  

PARENTS AS RARE - EPISODE 070

Meeting My MELAS Mito Friend - Elizabeth Wood

 

I met Elizabeth Wood, a fellow mito patient, through connections at Mito Action. Elizabeth was the first person from the mito and rare disease communities that I was fortunate enough to meet in person. I was grateful to meet with her, discussing being rare disease parents and mitochondrial disease. I learned a lot from our conversation and reuniting to record this podcast was just as helpful.

 

EPISODE HIGHLIGHTS

 

Can you share about yourself and your journey?

I'm still on the diagnostic odyssey with a suspected diagnosis of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). My journey has been long-term and I've struggled with symptoms my entire life. I recently gave up my professional life as a researcher at a think tank where I did policy work and advising. I'm a single parent with a child with special needs and rare conditions. 

 

What is it like being a parent with a rare disease and parenting a child with a rare disease?

My daughter has 16p11.2 deletion syndrome which causes intellectual disability, developmental delays, cardiac issues and epilepsy. She has another rare disease called alternating hemiplegia of childhood, an unpredictable neurological disorder. The physical requirements required of me to lift and care for her when she can't stand, walk or eat is becoming harder as she grows. 

 

How do you interact with your daughter when you can't be as active as you'd like?

There are activities I would have never thought to do with my daughter if it weren't for our limitations. When neither of us feels like doing anything, we can still have fun and we make sure to carve out special time together every day. 

 

How do you create special time to bond with your daughter?

It varies day-to-day depending on what we're up for, but a lot of our special time is indoors at the end of the day. If I can't hold a book up for her to read, we will work together to recite our own story and determine what happens through using mad libs. We've started recording some of them to have later because they're special.

 

What benefits are you seeing for yourself and your daughter as a result of seeing a  physiatrist?

This is my new favorite medical professional because they're helpful and solution-oriented. For us, it's been a much different medical experience. Appointments are concrete, the physical exams and testing has led to actual insight into what's happening in our bodies.



LINKS & RESOURCES MENTIONED

No Time Like the Future: An Optimist Considers Mortality - Michael J. Fox

https://www.amazon.com/Time-Like-Future-Considers-Mortality/dp/1250265614

Mitochondrial Myopathy Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS)

https://www.mitoaction.org/mito...

]]> full 70 false  

PARENTS AS RARE - EPISODE 070

Meeting My MELAS Mito Friend - Elizabeth Wood

 

I met Elizabeth Wood, a fellow mito patient, through connections at Mito Action. Elizabeth was the first person from the mito and rare disease communities that I was fortunate enough to meet in person. I was grateful to meet with her, discussing being rare disease parents and mitochondrial disease. I learned a lot from our conversation and reuniting to record this podcast was just as helpful.

 

EPISODE HIGHLIGHTS

 

Can you share about yourself and your journey?

I'm still on the diagnostic odyssey with a suspected diagnosis of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). My journey has been long-term and I've struggled with symptoms my entire life. I recently gave up my professional life as a researcher at a think tank where I did policy work and advising. I'm a single parent with a child with special needs and rare conditions. 

 

What is it like being a parent with a rare disease and parenting a child with a rare disease?

My daughter has 16p11.2 deletion syndrome which causes intellectual disability, developmental delays, cardiac issues and epilepsy. She has another rare disease called alternating hemiplegia of childhood, an unpredictable neurological disorder. The physical requirements required of me to lift and care for her when she can't stand, walk or eat is becoming harder as she grows. 

 

How do you interact with your daughter when you can't be as active as you'd like?

There are activities I would have never thought to do with my daughter if it weren't for our limitations. When neither of us feels like doing anything, we can still have fun and we make sure to carve out special time together every day. 

 

How do you create special time to bond with your daughter?

It varies day-to-day depending on what we're up for, but a lot of our special time is indoors at the end of the day. If I can't hold a book up for her to read, we will work together to recite our own story and determine what happens through using mad libs. We've started recording some of them to have later because they're special.

 

What benefits are you seeing for yourself and your daughter as a result of seeing a  physiatrist?

This is my new favorite medical professional because they're helpful and solution-oriented. For us, it's been a much different medical experience. Appointments are concrete, the physical exams and testing has led to actual insight into what's happening in our bodies.



LINKS & RESOURCES MENTIONED

No Time Like the Future: An Optimist Considers Mortality - Michael J. Fox

https://www.amazon.com/Time-Like-Future-Considers-Mortality/dp/1250265614

Mitochondrial Myopathy Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS)

https://www.mitoaction.org/mitochondrial-disease/types-of-mito/mitochondrial-myopathy-encephalopathy-lactic-acidosis-and-stroke-like-episodes-melas/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:42:51 <![CDATA[Episode 069 - Give Kids the World with Justin Kiser]]> Wed, 02 Nov 2022 14:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1310066 https://energy-in-action-by-mitoaction.castos.com/episodes/episode-069-give-kids-the-world-with-justin-kiser ENERGY IN ACTION - EPISODE 069

Give Kids the World with Justin Kiser

 

Justin Kiser is a dad to Riley, who is five years old and has a rare form of mitochondrial disease. The Kiser family was a recipient of a Mito Action and Give Kids the World wish trip. Justin shares details about their trip and what it meant to their family. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about yourself and your family?

I'm a husband and father of four. We came into the mito family through my youngest daughter who has a rare mitochondrial disorder called ECHS1. She was diagnosed about three years ago through genetic markers after being born to her biological parents addicted to substances. We're not sure if her disease was hereditary or environmental.

 

What was your experience as a recipient family of a Give Kids the World trip?

It was amazing. The fact that everything was paid for, not just for Riley, but for our whole family of six shocked me. The trip wasn't just monumental for Riley- it was amazing for all of us and we had a great time together as a family. The resort was very clean, the villas were spacious enough for everyone, and everything was organized really well. We visited each Disney park, both Universal parks and Sea World. Everywhere we went, we were treated like royalty and there was so much care, love and compassion extended to Riley. 

 

What was Riley's favorite part of the wish trip?

Her favorite part was being able to eat ice cream all day, even for breakfast. A lot of her favorite parts of the trip was at the Give Kids the World resort, seeing the star fairy and having her star placed at the castle. 



LINKS AND RESOURCES MENTIONED

Give Kids the World

https://www.gktw.org/

Trip Wish Nomination

https://www.mitoaction.org/wishes/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 69 false ENERGY IN ACTION - EPISODE 069

Give Kids the World with Justin Kiser

 

Justin Kiser is a dad to Riley, who is five years old and has a rare form of mitochondrial disease. The Kiser family was a recipient of a Mito Action and Give Kids the World wish trip. Justin shares details about their trip and what it meant to their family. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about yourself and your family?

I'm a husband and father of four. We came into the mito family through my youngest daughter who has a rare mitochondrial disorder called ECHS1. She was diagnosed about three years ago through genetic markers after being born to her biological parents addicted to substances. We're not sure if her disease was hereditary or environmental.

 

What was your experience as a recipient family of a Give Kids the World trip?

It was amazing. The fact that everything was paid for, not just for Riley, but for our whole family of six shocked me. The trip wasn't just monumental for Riley- it was amazing for all of us and we had a great time together as a family. The resort was very clean, the villas were spacious enough for everyone, and everything was organized really well. We visited each Disney park, both Universal parks and Sea World. Everywhere we went, we were treated like royalty and there was so much care, love and compassion extended to Riley. 

 

What was Riley's favorite part of the wish trip?

Her favorite part was being able to eat ice cream all day, even for breakfast. A lot of her favorite parts of the trip was at the Give Kids the World resort, seeing the star fairy and having her star placed at the castle. 



LINKS AND RESOURCES MENTIONED

Give Kids the World

https://www.gktw.org/

Trip Wish Nomination

https://www.mitoaction.org/wishes/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:41:10 <![CDATA[Special Episode - Live from the 2022 Global Genes Rare Patient Advocacy Summit with Tim McLerran, Head of Product, Medical Intelligence One, Inc]]> Wed, 19 Oct 2022 14:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1297161 https://energy-in-action-by-mitoaction.castos.com/episodes/special-episode-live-from-the-2022-global-genes-rare-patient-advocacy-summit-with-tim-mclerran-head-of-product-medical-intelligence-one-inc  

PARENTS AS RARE - EPISODE 068

Special Episode - Live from the 2022 Global Genes Rare Patient Advocacy Summit with Tim McLerran, Head of Product, Medical Intelligence One, Inc.

 

Tim McLerran is the Co-Founder and Head of Product at Medical Intelligence One, where the mission is to care for patients based on their own deeply informative data with wisdom derived from a partnership between human and machine intelligence trained on data from billions of other humans and all of the world's medical knowledge. Tim is also launching and hosting a show called Diagnostic Odysseys, where they dive into patient stories in hopes of shortening the diagnostic odysseys patients endure. 



EPISODE HIGHLIGHTS

 

What are your thoughts on patient care and face-to-face time?

I got into medicine because I wanted to have a relationship with my patients. Coming through training, I could see that was not the world I was coming into, which in part is why I decided to change my career direction and focus instead on something more connected. 

 

How has your medical career transitioned into your role with Medical Intelligence One?

While researching in medical school to develop methods of rapidly scanning blood, we generated large data sets of thousands of people. There was a moment that I remember staring at the numbers and realizing human minds need help from machine minds to make full use of the data. That made an impression on me, and through my clinical training, additional factors came together that inspired me to consider taking a deeper dive into bridging human and machine intelligence in medicine. I went from the clinical track to full time researching, attending conferences, reading books and reaching out to mentors. 

 

Can you tell us about Enola?

Medical data is organized and stored in the electronic medical records system in a way that isn't conducive to downstream analysis and there are better ways to organize data. A colleague and I turned our attention to rare diseases and building a system where a patients can enter clinical findings, discover diseases associated with clinical findings and narrow results based on additional related findings. Once this product is developed and launched, it will be available to patients directly.



LINKS & RESOURCES MENTIONED

Medical Intelligence One

https://www.mi1.ai/

Once Upon a Gene Podcast

https://effieparks.com/podcast

Enola

https://www.mi1.ai/enola

Tim McLerran on Linkedin

https://www.linkedin.com/in/tim-mclerran/

Tim McLerran on Instagram

https://www.instagram.com/p/Cj0TSFhuoVo/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

]]> full 68 false  

PARENTS AS RARE - EPISODE 068

Special Episode - Live from the 2022 Global Genes Rare Patient Advocacy Summit with Tim McLerran, Head of Product, Medical Intelligence One, Inc.

 

Tim McLerran is the Co-Founder and Head of Product at Medical Intelligence One, where the mission is to care for patients based on their own deeply informative data with wisdom derived from a partnership between human and machine intelligence trained on data from billions of other humans and all of the world's medical knowledge. Tim is also launching and hosting a show called Diagnostic Odysseys, where they dive into patient stories in hopes of shortening the diagnostic odysseys patients endure. 



EPISODE HIGHLIGHTS

 

What are your thoughts on patient care and face-to-face time?

I got into medicine because I wanted to have a relationship with my patients. Coming through training, I could see that was not the world I was coming into, which in part is why I decided to change my career direction and focus instead on something more connected. 

 

How has your medical career transitioned into your role with Medical Intelligence One?

While researching in medical school to develop methods of rapidly scanning blood, we generated large data sets of thousands of people. There was a moment that I remember staring at the numbers and realizing human minds need help from machine minds to make full use of the data. That made an impression on me, and through my clinical training, additional factors came together that inspired me to consider taking a deeper dive into bridging human and machine intelligence in medicine. I went from the clinical track to full time researching, attending conferences, reading books and reaching out to mentors. 

 

Can you tell us about Enola?

Medical data is organized and stored in the electronic medical records system in a way that isn't conducive to downstream analysis and there are better ways to organize data. A colleague and I turned our attention to rare diseases and building a system where a patients can enter clinical findings, discover diseases associated with clinical findings and narrow results based on additional related findings. Once this product is developed and launched, it will be available to patients directly.



LINKS & RESOURCES MENTIONED

Medical Intelligence One

https://www.mi1.ai/

Once Upon a Gene Podcast

https://effieparks.com/podcast

Enola

https://www.mi1.ai/enola

Tim McLerran on Linkedin

https://www.linkedin.com/in/tim-mclerran/

Tim McLerran on Instagram

https://www.instagram.com/p/Cj0TSFhuoVo/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:30:26 <![CDATA[What Is It Like Being a Research Patient with UDN - Ted Will Tell You]]> Wed, 12 Oct 2022 14:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1292139 https://energy-in-action-by-mitoaction.castos.com/episodes/what-is-it-like-being-a-research-patient-with-udn-ted-will-tell-you ENERGY IN ACTION - EPISODE 067

What's It Like Being a Research Patient with UDN - Ted Will Tell You

 

In addition to being the host of the Energy in Action Podcast, Stephanie is a mom to three children. Stephanie's son Ted is the youngest of three siblings with two older sisters. Ted and Stephanie recount the mitochondrial disease journey from their shared mother-and-son perspectives.

 

EPISODE HIGHLIGHTS

 

What compels me to host this podcast is my need to find my tribe. As an early adopter of rare disease and mitochondrial dysfunction, I was often alone, never understood and my peers couldn't relate to me. The internet wasn't as robust as it is now and social media wasn't a thing. We were told that Ted was un-treatable and had a 10-12 year expected lifespan. I began researching and found Mito Action. I have found other parents who speak my language, who understand my heartache, my joy and my absolute frantic need to find answers and treatments. 

 

In 2013, Ted had a serious illness and was septic from a line infection. For 23 days, Ted's body would improve and then backslide. It was during this time when we noticed  neurological concerns and Ted had the first of many MRIs. 

 

A growth was discovered near Ted's pituitary gland. With more research, I found a research study happening at the NIH and submitted all the necessary documents. When I heard back from the NIH, they wanted to see Ted and two weeks later we went to DC. It was there that we became part of the mini study and the Undiagnosed Disease Network. 

 

For the first year and a half of being part of the mini study, we did a lot of back and forth from Minnesota to DC where we would stay for two or three days. It was during one of those visits where they started realizing that Ted's immune system was a bigger piece of the diagnosis puzzle. Ted was getting super flu shots and a pneumonia vaccine every year, which most people usually get once every five to 10 years. It was also confirmed that Ted had a tumor on his pituitary gland and he started developing side effects. 

 

After graduating high school and enrolling in a local community college, Ted's pituitary tumor started affecting him at work and school. He began experiencing dizziness, headaches, migraines, loss of appetite, memory loss, and he lost over 20 pounds in less than a month. After surgery to remove the surgery, there's been no new growth or evidence of the tumor after a year.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 67 false ENERGY IN ACTION - EPISODE 067

What's It Like Being a Research Patient with UDN - Ted Will Tell You

 

In addition to being the host of the Energy in Action Podcast, Stephanie is a mom to three children. Stephanie's son Ted is the youngest of three siblings with two older sisters. Ted and Stephanie recount the mitochondrial disease journey from their shared mother-and-son perspectives.

 

EPISODE HIGHLIGHTS

 

What compels me to host this podcast is my need to find my tribe. As an early adopter of rare disease and mitochondrial dysfunction, I was often alone, never understood and my peers couldn't relate to me. The internet wasn't as robust as it is now and social media wasn't a thing. We were told that Ted was un-treatable and had a 10-12 year expected lifespan. I began researching and found Mito Action. I have found other parents who speak my language, who understand my heartache, my joy and my absolute frantic need to find answers and treatments. 

 

In 2013, Ted had a serious illness and was septic from a line infection. For 23 days, Ted's body would improve and then backslide. It was during this time when we noticed  neurological concerns and Ted had the first of many MRIs. 

 

A growth was discovered near Ted's pituitary gland. With more research, I found a research study happening at the NIH and submitted all the necessary documents. When I heard back from the NIH, they wanted to see Ted and two weeks later we went to DC. It was there that we became part of the mini study and the Undiagnosed Disease Network. 

 

For the first year and a half of being part of the mini study, we did a lot of back and forth from Minnesota to DC where we would stay for two or three days. It was during one of those visits where they started realizing that Ted's immune system was a bigger piece of the diagnosis puzzle. Ted was getting super flu shots and a pneumonia vaccine every year, which most people usually get once every five to 10 years. It was also confirmed that Ted had a tumor on his pituitary gland and he started developing side effects. 

 

After graduating high school and enrolling in a local community college, Ted's pituitary tumor started affecting him at work and school. He began experiencing dizziness, headaches, migraines, loss of appetite, memory loss, and he lost over 20 pounds in less than a month. After surgery to remove the surgery, there's been no new growth or evidence of the tumor after a year.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:30:17 <![CDATA[Alex the Great and LCHAD]]> Wed, 05 Oct 2022 14:00:00 +0000 MitoAction https://permalink.castos.com/podcast/18538/episode/1288205 https://energy-in-action-by-mitoaction.castos.com/episodes/alex-the-great-and-lchad ENERGY IN ACTION - EPISODE 066

Alex the Great and LCHAD

 

Alex is in her second year of college at Texas Tech where she is studying human development and family sciences. She also has LCHAD, a long-chain fatty acid oxidation disorder. 

 

EPISODE HIGHLIGHTS

 

Can you introduce yourself and share more about LCHAD?

I'm 20 years old and a sophomore at Texas Tech University. LCHAD is a rare genetic metabolic disorder that prevents me from using fat for energy. I eat a low fat diet because my condition prevents my body from breaking down long-chain fats. I take supplements that have fats my body can use and I include limited essential fats. 

 

How do you manage your way of eating?

I've known of my disease my whole life, so I've had a lot of experience reading nutritional labels and eating the right diet for me. That has allowed me to go to restaurants and order food that is within my limitations. I use alternatives like powdered peanut butter instead of jar peanut butter so I can eat a lot of typical fatty foods without being too restrictive. On campus I am able to eat in the dining hall and request foods be prepared in a way that I can eat them, but there's also a dietitian on campus who keeps a nutrition log I can refer to when I need to. 

 

What is your advice for other rare disease students considering going away to college?

I was very determined, so it's worth trying, taking on a little more responsibility and going after dreams. It takes work to manage rare disease at college, but it's doable. Plan with your parents to make sure there are people to support you while you adjust.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> full 66 false ENERGY IN ACTION - EPISODE 066

Alex the Great and LCHAD

 

Alex is in her second year of college at Texas Tech where she is studying human development and family sciences. She also has LCHAD, a long-chain fatty acid oxidation disorder. 

 

EPISODE HIGHLIGHTS

 

Can you introduce yourself and share more about LCHAD?

I'm 20 years old and a sophomore at Texas Tech University. LCHAD is a rare genetic metabolic disorder that prevents me from using fat for energy. I eat a low fat diet because my condition prevents my body from breaking down long-chain fats. I take supplements that have fats my body can use and I include limited essential fats. 

 

How do you manage your way of eating?

I've known of my disease my whole life, so I've had a lot of experience reading nutritional labels and eating the right diet for me. That has allowed me to go to restaurants and order food that is within my limitations. I use alternatives like powdered peanut butter instead of jar peanut butter so I can eat a lot of typical fatty foods without being too restrictive. On campus I am able to eat in the dining hall and request foods be prepared in a way that I can eat them, but there's also a dietitian on campus who keeps a nutrition log I can refer to when I need to. 

 

What is your advice for other rare disease students considering going away to college?

I was very determined, so it's worth trying, taking on a little more responsibility and going after dreams. It takes work to manage rare disease at college, but it's doable. Plan with your parents to make sure there are people to support you while you adjust.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

]]> 00:25:51 <![CDATA[Tara Zier - Stiff Person Syndrome Research Foundation and Finding Your Purpose]]> Wed, 21 Sep 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/tara-zier-stiff-person-syndrome-research-foundation-and-finding-your-purpose https://energy-in-action-by-mitoaction.castos.com/episodes/tara-zier-stiff-person-syndrome-research-foundation-and-finding-your-purpose  

PARENTS AS RARE - EPISODE 065

Tara Zier - Stiff Person Syndrome Research Foundation and Finding Your Purpose

 

Tara Zier is a rare disease patient, mother and the Founder and President of The Stiff Person Syndrome Research Foundation, where the vision is that all people with Stiff Person Syndrome (SPS) receive a prompt diagnosis, compassionate care, effective treatments and a cure. The mission is to raise awareness of SPS, to support research for better treatments and a cure for SPS while strengthening the community through education and collaboration. 



EPISODE HIGHLIGHTS

 

Can you share your rare disease story?

I came into the rare disease space because I have a rare disease called Stiff Person Syndrome (SPS), which is a rare neurological disease with autoimmune features. I was diagnosed in 2017 after a three year long diagnostic odyssey, going from doctor to doctor and receiving misdiagnosis. 

 

What was it like to get your diagnosis?

I was relieved to have an answer. There was a lot of pressure and anxiety around parenting my children and protecting them from trauma as I went through the diagnostic odyssey, so there was also relief from that. I moved into the education phase to learn about the disease and determine a comprehensive approach to healing and getting better, despite SPS being a progressive disease. 

 

How has your SPS diagnosis impacted your kids?

My kids have a good recollection of what I was like before my diagnosis, so it was hard for me knowing they were witnessing the changes. We became closer through my diagnosis in a lot of ways and I'm honest with them about the unknowns so we can be grateful for each day.

 

How did you communicate your diagnosis with your children?

I relied on therapists to guide me on what to say and how to say it. I had to decide how much information to give them because the disease is a spectrum condition with different levels of disability. I had to be transparent about not knowing what the future looked like. I let them know that they could research, but that I preferred we do it together so we could talk about it.

 

Can you share what The Stiff Person Syndrome Research Foundation is doing right now?

We were fortunate to get the Chan Zuckerberg Rare As One grant, which offers three years of funding for organizational capacity for sustainability and networking. They also offer training and support across all facets of running a rare disease nonprofit. Since we've received the grant, we've expanded our board, brought on three members for our medical advisory board- all experts in SPS. We're currently in the process of developing our patient contact registry natural history studies.



LINKS & RESOURCES MENTIONED

The Stiff Person Syndrome Research Foundation

https://stiffperson.org/

SPSRF on Facebook

https://www.facebook.com/TheSPSRF

SPSRF on Twitter

https://twitter.com/TheSPSRF

SPSRF on In...

]]> full 65 false  

PARENTS AS RARE - EPISODE 065

Tara Zier - Stiff Person Syndrome Research Foundation and Finding Your Purpose

 

Tara Zier is a rare disease patient, mother and the Founder and President of The Stiff Person Syndrome Research Foundation, where the vision is that all people with Stiff Person Syndrome (SPS) receive a prompt diagnosis, compassionate care, effective treatments and a cure. The mission is to raise awareness of SPS, to support research for better treatments and a cure for SPS while strengthening the community through education and collaboration. 



EPISODE HIGHLIGHTS

 

Can you share your rare disease story?

I came into the rare disease space because I have a rare disease called Stiff Person Syndrome (SPS), which is a rare neurological disease with autoimmune features. I was diagnosed in 2017 after a three year long diagnostic odyssey, going from doctor to doctor and receiving misdiagnosis. 

 

What was it like to get your diagnosis?

I was relieved to have an answer. There was a lot of pressure and anxiety around parenting my children and protecting them from trauma as I went through the diagnostic odyssey, so there was also relief from that. I moved into the education phase to learn about the disease and determine a comprehensive approach to healing and getting better, despite SPS being a progressive disease. 

 

How has your SPS diagnosis impacted your kids?

My kids have a good recollection of what I was like before my diagnosis, so it was hard for me knowing they were witnessing the changes. We became closer through my diagnosis in a lot of ways and I'm honest with them about the unknowns so we can be grateful for each day.

 

How did you communicate your diagnosis with your children?

I relied on therapists to guide me on what to say and how to say it. I had to decide how much information to give them because the disease is a spectrum condition with different levels of disability. I had to be transparent about not knowing what the future looked like. I let them know that they could research, but that I preferred we do it together so we could talk about it.

 

Can you share what The Stiff Person Syndrome Research Foundation is doing right now?

We were fortunate to get the Chan Zuckerberg Rare As One grant, which offers three years of funding for organizational capacity for sustainability and networking. They also offer training and support across all facets of running a rare disease nonprofit. Since we've received the grant, we've expanded our board, brought on three members for our medical advisory board- all experts in SPS. We're currently in the process of developing our patient contact registry natural history studies.



LINKS & RESOURCES MENTIONED

The Stiff Person Syndrome Research Foundation

https://stiffperson.org/

SPSRF on Facebook

https://www.facebook.com/TheSPSRF

SPSRF on Twitter

https://twitter.com/TheSPSRF

SPSRF on Instagram

https://www.instagram.com/stiff_person_syndrome/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:33:25 <![CDATA[Lovevery - Purposeful Play Customized for all Abilities]]> Wed, 14 Sep 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/lovevery-purposeful-play-customized-for-all-abilities https://energy-in-action-by-mitoaction.castos.com/episodes/lovevery-purposeful-play-customized-for-all-abilities ENERGY IN ACTION - EPISODE 064

Lovevery - Purposeful Play Customized for all Abilities

 

Maral Amani is a Licensed Physical Therapist and the Disability Support Specialist at  Lovevery, a toy company that helps families, educators and therapists find the right toys and the right tools to help develop confidence through play.

 

EPISODE HIGHLIGHTS

 

Can you tell us about yourself and your work?

I'm a Physical Therapist, specializing in children ages 0-3 and early intervention. At Lovevery, I'm the Disability Support Specialist for a recently launched program that allows families to purchase play kits without a subscription. Through communicating with me, I'm able to help families choose specific play kits that are best for children with a focus on skill-based development and strength-based development. Families can reach out to me through the website, answer questions about their children, share what skills they're developing, and I will recommend a play kit that will also include a play guide. 

 

What kits are available for children with mobility issues?

As a Physical Therapist, I focus on big movements, core strengthening, leg strengthening, bearing weight through the arms. For tiny movements, it's best to put children in a comfortable position to play so they're reducing the energy demand of holding themselves up so their energy can focus on fine motor movement. If you purchase a play kit that has toys that can't be used right away or used in the typical way, think about how the toy can be enjoyed with modifications.

 

What do you recommend for developing executive functioning skills?

My favorite play kit for that is the Inspector Kit with the ball drop box. It comes with balls inside the box, but it rolls out at an angle to the side. There's auditory feedback from the wooden ball rolling and dropping. I also like using our Bright & Light Play Scarf to cover books and other objects children are interested in. This is good for working on object permanence and executive functioning.

 

How do families access the Lovevery disability service?

Complete the form or email me at support.specialist@lovevery.com and we can discuss which play kit is right for your child through a one-on-one, personalized experience. We have a disability expert council with a lot of experience working with children with disabilities and they provide a lot of guidance to me to ensure we're considering multiple angles of each child's development. We are here for all families and we want families to feel seen and supported. Please email me with any questions you have.



LINKS AND RESOURCES MENTIONED

Lovevery

https://lovevery.com/

The Inspector Play Kit

https://lovevery.com/products/the-play-kits-the-inspector

The Explorer Play Kit

https://lovevery.com/products/the-play-kits-the-explorer

]]> full 64 false ENERGY IN ACTION - EPISODE 064

Lovevery - Purposeful Play Customized for all Abilities

 

Maral Amani is a Licensed Physical Therapist and the Disability Support Specialist at  Lovevery, a toy company that helps families, educators and therapists find the right toys and the right tools to help develop confidence through play.

 

EPISODE HIGHLIGHTS

 

Can you tell us about yourself and your work?

I'm a Physical Therapist, specializing in children ages 0-3 and early intervention. At Lovevery, I'm the Disability Support Specialist for a recently launched program that allows families to purchase play kits without a subscription. Through communicating with me, I'm able to help families choose specific play kits that are best for children with a focus on skill-based development and strength-based development. Families can reach out to me through the website, answer questions about their children, share what skills they're developing, and I will recommend a play kit that will also include a play guide. 

 

What kits are available for children with mobility issues?

As a Physical Therapist, I focus on big movements, core strengthening, leg strengthening, bearing weight through the arms. For tiny movements, it's best to put children in a comfortable position to play so they're reducing the energy demand of holding themselves up so their energy can focus on fine motor movement. If you purchase a play kit that has toys that can't be used right away or used in the typical way, think about how the toy can be enjoyed with modifications.

 

What do you recommend for developing executive functioning skills?

My favorite play kit for that is the Inspector Kit with the ball drop box. It comes with balls inside the box, but it rolls out at an angle to the side. There's auditory feedback from the wooden ball rolling and dropping. I also like using our Bright & Light Play Scarf to cover books and other objects children are interested in. This is good for working on object permanence and executive functioning.

 

How do families access the Lovevery disability service?

Complete the form or email me at support.specialist@lovevery.com and we can discuss which play kit is right for your child through a one-on-one, personalized experience. We have a disability expert council with a lot of experience working with children with disabilities and they provide a lot of guidance to me to ensure we're considering multiple angles of each child's development. We are here for all families and we want families to feel seen and supported. Please email me with any questions you have.



LINKS AND RESOURCES MENTIONED

Lovevery

https://lovevery.com/

The Inspector Play Kit

https://lovevery.com/products/the-play-kits-the-inspector

The Explorer Play Kit

https://lovevery.com/products/the-play-kits-the-explorer

Lovevery Disability Service Form

https://lovevery.com/pages/disability

Lovevery at Target

https://www.target.com/s?searchTerm=lovevery

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:36:29 <![CDATA[Meet Devin the Genetic Counselor and Mito Patient]]> Wed, 07 Sep 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/meet-devin-the-genetic-counselor-and-mito-patient https://energy-in-action-by-mitoaction.castos.com/episodes/meet-devin-the-genetic-counselor-and-mito-patient ENERGY IN ACTION - EPISODE 063

Meet Devin the Genetic Counselor and Mito Patient

 

Devin Shuman is a Genetic Counselor based outside of Seattle, Washington. At age 16, she was diagnosed with Mitochondrial Depletion Syndrome (MDS).

 

EPISODE HIGHLIGHTS

 

How are you connected to the mito community?

I was diagnosed with Mitochondrial Depletion Syndrome (MDS) at age 16. My brother went through the diagnostic odyssey and also has the same form of mito, so while I had symptoms my whole life, I had a presumptuous diagnosis until age 16. In college, I attended a genetic counseling event that inspired me to become a Genetic Counselor. 

 

Can you share about your work as a Genetic Counselor?

I currently work in telemedicine for a nonprofit called Genetic Support Foundation. The company provides genetic counseling directly to patients without the waitlist most genetic clinics have, and to break down barriers patients typically experience in a non-biased way. My job is to educate patients around their options. 

 

As a clinician, how do you guide families through clinical testing?

My first job out of school was working in genetics at an autism center which taught me a lot about treating symptoms and when testing is or is not right for a patient. Clinical testing can sometimes help with medical management, open the door to clinical trials and connect families with communities. There are expense considerations in addition to weighing how answers will help with medical management and family planning that I help families make decisions around and have conversations about.

 

LINKS AND RESOURCES MENTIONED

Genetic Support Foundation

https://geneticsupportfoundation.org/

UDN Participant Engagement and Empowerment Resource (PEER) Group

https://undiagnosed.hms.harvard.edu/resources/peer/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> full 63 false ENERGY IN ACTION - EPISODE 063

Meet Devin the Genetic Counselor and Mito Patient

 

Devin Shuman is a Genetic Counselor based outside of Seattle, Washington. At age 16, she was diagnosed with Mitochondrial Depletion Syndrome (MDS).

 

EPISODE HIGHLIGHTS

 

How are you connected to the mito community?

I was diagnosed with Mitochondrial Depletion Syndrome (MDS) at age 16. My brother went through the diagnostic odyssey and also has the same form of mito, so while I had symptoms my whole life, I had a presumptuous diagnosis until age 16. In college, I attended a genetic counseling event that inspired me to become a Genetic Counselor. 

 

Can you share about your work as a Genetic Counselor?

I currently work in telemedicine for a nonprofit called Genetic Support Foundation. The company provides genetic counseling directly to patients without the waitlist most genetic clinics have, and to break down barriers patients typically experience in a non-biased way. My job is to educate patients around their options. 

 

As a clinician, how do you guide families through clinical testing?

My first job out of school was working in genetics at an autism center which taught me a lot about treating symptoms and when testing is or is not right for a patient. Clinical testing can sometimes help with medical management, open the door to clinical trials and connect families with communities. There are expense considerations in addition to weighing how answers will help with medical management and family planning that I help families make decisions around and have conversations about.

 

LINKS AND RESOURCES MENTIONED

Genetic Support Foundation

https://geneticsupportfoundation.org/

UDN Participant Engagement and Empowerment Resource (PEER) Group

https://undiagnosed.hms.harvard.edu/resources/peer/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:32:01 <![CDATA[Mary Morlino - Parenting with Sarcoidosis and Discussing the Global Genes 2022 RARE Patient Advocacy Summit]]> Wed, 17 Aug 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/mary-morlino-parenting-with-sarcoidosis-and-discussing-the-global-genes-2022-rare-patient-advocacy-summit https://energy-in-action-by-mitoaction.castos.com/episodes/mary-morlino-parenting-with-sarcoidosis-and-discussing-the-global-genes-2022-rare-patient-advocacy-summit  

PARENTS AS RARE - EPISODE 062

Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit

 

Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies. Visit the Global Genes website to get more information about attending in-person in San Diego or virtually, September 12th-14th.

 

EPISODE HIGHLIGHTS

 

Can you tell us about yourself and how rare disease has impacted you?

I work at Global Genes and I'm the Co-Founder of MarylandRARE, an organization that serves the rare disease community in the state of Maryland. I have two young adult daughters. When they were 7 and 9 years old, I was visiting my sister in California when I collapsed for an unknown reason. I spent a week in the hospital undergoing various testing and was released without any answers, only confirmation that something was wrong with my heart. I flew home and a day later I was hospitalized again, underwent additional testing and had a pacemaker put in. Several years later, my health started to decline rapidly and I had to wear an external defibrillator vest while I consulted with heart transplant doctors. A final test was a biopsy that revealed I had Sarcoidosis, an inflammatory disease where groups of cells create granulomas which inhibit blood flow and function. 

 

What were the conversations like with your daughters about your diagnosis?

It was difficult because I was in the hospital, there was no hiding it, and my children were old enough to Google whatever they wanted about the disease. We had a series of conversations, giving them information and leaving the door open for future conversations or questions. Even as adults, we still talk, but they monitor me and concern themselves with how I'm doing and I wish they didn't have to feel that way.

 

What advice do you have for navigating work, advocacy, parenting and disease?

I've had to shift to a less physical life and find a balance of personal growth and personal contribution to help me feel valued. This is why I got into advocacy- it fed me energy, allowed me to contribute and helped me to feel positive about my value in the world. I disregarded and eliminated anything in my life that didn't need focus and energy. My best tips are to schedule rest, eat healthy, have compassion for your body and balance your priorities. If you can, find something valuable to you and focus on it. 



LINKS & RESOURCES MENTIONED

Global Genes

https://globalgenes.org/

MarylandRARE

https://marylandrare.org/

2022 RARE Patient Advocacy Summit

https://globalgenes.org/event/rare-patient-advocacy-summit/

Foundation For Sarcoidosis Research

https:/...

]]> full 62 false  

PARENTS AS RARE - EPISODE 062

Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit

 

Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies. Visit the Global Genes website to get more information about attending in-person in San Diego or virtually, September 12th-14th.

 

EPISODE HIGHLIGHTS

 

Can you tell us about yourself and how rare disease has impacted you?

I work at Global Genes and I'm the Co-Founder of MarylandRARE, an organization that serves the rare disease community in the state of Maryland. I have two young adult daughters. When they were 7 and 9 years old, I was visiting my sister in California when I collapsed for an unknown reason. I spent a week in the hospital undergoing various testing and was released without any answers, only confirmation that something was wrong with my heart. I flew home and a day later I was hospitalized again, underwent additional testing and had a pacemaker put in. Several years later, my health started to decline rapidly and I had to wear an external defibrillator vest while I consulted with heart transplant doctors. A final test was a biopsy that revealed I had Sarcoidosis, an inflammatory disease where groups of cells create granulomas which inhibit blood flow and function. 

 

What were the conversations like with your daughters about your diagnosis?

It was difficult because I was in the hospital, there was no hiding it, and my children were old enough to Google whatever they wanted about the disease. We had a series of conversations, giving them information and leaving the door open for future conversations or questions. Even as adults, we still talk, but they monitor me and concern themselves with how I'm doing and I wish they didn't have to feel that way.

 

What advice do you have for navigating work, advocacy, parenting and disease?

I've had to shift to a less physical life and find a balance of personal growth and personal contribution to help me feel valued. This is why I got into advocacy- it fed me energy, allowed me to contribute and helped me to feel positive about my value in the world. I disregarded and eliminated anything in my life that didn't need focus and energy. My best tips are to schedule rest, eat healthy, have compassion for your body and balance your priorities. If you can, find something valuable to you and focus on it. 



LINKS & RESOURCES MENTIONED

Global Genes

https://globalgenes.org/

MarylandRARE

https://marylandrare.org/

2022 RARE Patient Advocacy Summit

https://globalgenes.org/event/rare-patient-advocacy-summit/

Foundation For Sarcoidosis Research

https://www.stopsarcoidosis.org/

EveryLife Foundation for Rare Diseases

https://everylifefoundation.org/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:40:41 <![CDATA[Jacob and CPEO Plus]]> Wed, 10 Aug 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/jacob-and-cpeo-plus https://energy-in-action-by-mitoaction.castos.com/episodes/jacob-and-cpeo-plus ENERGY IN ACTION - EPISODE 061

Jacob Shinder and CPEO+

 

Jacob Shinder is a 22 year old college student who was diagnosed with CPEO+ at the age of 12. He joins us to talk about his experience and how it has shaped his goals for the future. 

 

EPISODE HIGHLIGHTS

 

What is CPEO?

Chronic progressive external ophthalmoplegia (CPEO) is a drooping of the eyelids. I have CPEO+ which also causes overall body weakness, affecting my stomach and bowels, muscles and brain. 

 

What symptoms were you experiencing that led to your parents seeking out a diagnosis for you?

In middle school, I'd often see double, which would come on and go away often. I went to the nurse one day when I could only see double in class. My mom reached out to my pediatrician initially and eventually was seen by multiple specialists. Eventually a muscle biopsy led to a diagnosis. 

 

What is your current treatment for CPEO?

I take the mito cocktail, a lot of vitamins and medication for my heart. 

 

What was school like for you?

In middle school and high school, I had an IEP which allowed for extra time on tests. More difficult than any academic struggles was the social aspect with kids asking me questions and teasing me. One of the better decisions I made was to participate in graphic design classes for half the day at a local technical college. I also worked part time through school. 

 

What are you up to right now?

I just graduated college and I'll be going to NYU in the fall for social work. I work with a developmentally disabled person to take care of them through the day. I really want to help people and I feel like social work is a great way to do that.

 

CONNECT WITH JACOB

Facebook

https://www.facebook.com/jacob.shinder

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> full 61 false ENERGY IN ACTION - EPISODE 061

Jacob Shinder and CPEO+

 

Jacob Shinder is a 22 year old college student who was diagnosed with CPEO+ at the age of 12. He joins us to talk about his experience and how it has shaped his goals for the future. 

 

EPISODE HIGHLIGHTS

 

What is CPEO?

Chronic progressive external ophthalmoplegia (CPEO) is a drooping of the eyelids. I have CPEO+ which also causes overall body weakness, affecting my stomach and bowels, muscles and brain. 

 

What symptoms were you experiencing that led to your parents seeking out a diagnosis for you?

In middle school, I'd often see double, which would come on and go away often. I went to the nurse one day when I could only see double in class. My mom reached out to my pediatrician initially and eventually was seen by multiple specialists. Eventually a muscle biopsy led to a diagnosis. 

 

What is your current treatment for CPEO?

I take the mito cocktail, a lot of vitamins and medication for my heart. 

 

What was school like for you?

In middle school and high school, I had an IEP which allowed for extra time on tests. More difficult than any academic struggles was the social aspect with kids asking me questions and teasing me. One of the better decisions I made was to participate in graphic design classes for half the day at a local technical college. I also worked part time through school. 

 

What are you up to right now?

I just graduated college and I'll be going to NYU in the fall for social work. I work with a developmentally disabled person to take care of them through the day. I really want to help people and I feel like social work is a great way to do that.

 

CONNECT WITH JACOB

Facebook

https://www.facebook.com/jacob.shinder

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:21:24 <![CDATA[Meet the Bartles]]> Wed, 03 Aug 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/meet-the-bartles https://energy-in-action-by-mitoaction.castos.com/episodes/meet-the-bartles ENERGY IN ACTION - EPISODE 060

Meet the Bartels

 

Jake and Cami Bartle have been married for three years and they join us to share their rare disease experience and how the diagnosis has affected them as a young couple.

 

EPISODE HIGHLIGHTS

 

Cami, what is it like to be married to someone with a rare disease?

We didn't know that Jake had mitochondrial disease until 5 months after we were married. He had a seizure, was in the hospital and he received a diagnosis. Having a sudden diagnosis was shocking and made me realize nothing is guaranteed. At the beginning, the experience was isolating, but we've found community through the United Mitochondrial Disease Foundation, and I've been able to connect with more caregivers. 

 

Jake, what do you do for a living?

I went to school and got my Masters degree in elementary education and I'll be teaching 6th grade social studies. After my diagnosis, I looked up life expectancy and it helped me to reflect and re-evaluate what I wanted to do with my life. 

 

Cami, what do you do for a living? 

I work in marketing and I'm thankful to work from home so I can better support Jake. I'm also thankful for a manager and team that are understanding when I have to be at doctors appointments or away from work to be more available to Jake. 

 

As a young couple, how do you structure work/life balance and make every day count?

We try to have dinner together every night and watch tv together. We're intentional about not being on our phones when we're together and we take date night very seriously. We're intentional about the time we have together and we make sure to create time for each other.

 

How did you cope with receiving a diagnosis during the pandemic with limited resources available to you?

We both did individual therapy and we did some work together to get unstuck. Going through the diagnosis wasn't easy for either of us and we had to process through it individually for differing reasons. It took time to come to terms with the diagnosis and what it meant for our future. We're always working on controlling what we can and letting go of what we can't.

 

LINKS & RESOURCES MENTIONED

United Mitochondrial Disease Foundation

https://www.umdf.org/

Instagram: @us_and_melas

https://www.instagram.com/us_and_melas/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction...

]]> full 60 false ENERGY IN ACTION - EPISODE 060

Meet the Bartels

 

Jake and Cami Bartle have been married for three years and they join us to share their rare disease experience and how the diagnosis has affected them as a young couple.

 

EPISODE HIGHLIGHTS

 

Cami, what is it like to be married to someone with a rare disease?

We didn't know that Jake had mitochondrial disease until 5 months after we were married. He had a seizure, was in the hospital and he received a diagnosis. Having a sudden diagnosis was shocking and made me realize nothing is guaranteed. At the beginning, the experience was isolating, but we've found community through the United Mitochondrial Disease Foundation, and I've been able to connect with more caregivers. 

 

Jake, what do you do for a living?

I went to school and got my Masters degree in elementary education and I'll be teaching 6th grade social studies. After my diagnosis, I looked up life expectancy and it helped me to reflect and re-evaluate what I wanted to do with my life. 

 

Cami, what do you do for a living? 

I work in marketing and I'm thankful to work from home so I can better support Jake. I'm also thankful for a manager and team that are understanding when I have to be at doctors appointments or away from work to be more available to Jake. 

 

As a young couple, how do you structure work/life balance and make every day count?

We try to have dinner together every night and watch tv together. We're intentional about not being on our phones when we're together and we take date night very seriously. We're intentional about the time we have together and we make sure to create time for each other.

 

How did you cope with receiving a diagnosis during the pandemic with limited resources available to you?

We both did individual therapy and we did some work together to get unstuck. Going through the diagnosis wasn't easy for either of us and we had to process through it individually for differing reasons. It took time to come to terms with the diagnosis and what it meant for our future. We're always working on controlling what we can and letting go of what we can't.

 

LINKS & RESOURCES MENTIONED

United Mitochondrial Disease Foundation

https://www.umdf.org/

Instagram: @us_and_melas

https://www.instagram.com/us_and_melas/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:39:14 <![CDATA[Owning My Story]]> Wed, 20 Jul 2022 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/owning-my-story https://energy-in-action-by-mitoaction.castos.com/episodes/owning-my-story  

PARENTS AS RARE - EPISODE 059

Owning My Story 

 

Adam Johnson's world was turned upside down when he went from being a healthy 35 year old with an exciting path ahead, to a 35 year old with a rare disease that left him wondering what could have been. It's his story and he owns it and he adds to it through rare disease advocacy. As a self-proclaimed dadvocate, he learned to own his story through blogging, podcasting and sharing on social media. 

 

EPISODE HIGHLIGHTS

 

In the early stages of his symptom manifestation and diagnostic process, Adam felt alone, as if he were the only person going through a similar struggle. No one he knew, especially at his age, was going through the same experience. 

 

He knew there had to be others and initially used Twitter to turn his hopes of offering support and advocacy into action and connect with others who could support each other- @rarediseasedad was born. 

 

While connecting with people he didn't know was intriguing, connecting with people he did know was scary because he would have to open up about himself and what he was going through. With each interaction, he hid behind his Twitter handle. With the realization that he was a husband, dad, son, brother, nephew, uncle, cousin, friend, neighbor and acquaintance who happens to have a rare disease, rare disease didn't define him, but it was a part of him and couldn't be ignored. 

 

Adding his name to his account was how he decided to move forward, to be transparent and vulnerable in hopes that it would help someone else along the way. It was time to own his story and his advocacy journey has only further advanced his story into this podcast- Parents As Rare. Adam hopes to continue building a community of parents who are working through a rare disease, to connect, support and provide comfort for others.



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

]]> full 59 false  

PARENTS AS RARE - EPISODE 059

Owning My Story 

 

Adam Johnson's world was turned upside down when he went from being a healthy 35 year old with an exciting path ahead, to a 35 year old with a rare disease that left him wondering what could have been. It's his story and he owns it and he adds to it through rare disease advocacy. As a self-proclaimed dadvocate, he learned to own his story through blogging, podcasting and sharing on social media. 

 

EPISODE HIGHLIGHTS

 

In the early stages of his symptom manifestation and diagnostic process, Adam felt alone, as if he were the only person going through a similar struggle. No one he knew, especially at his age, was going through the same experience. 

 

He knew there had to be others and initially used Twitter to turn his hopes of offering support and advocacy into action and connect with others who could support each other- @rarediseasedad was born. 

 

While connecting with people he didn't know was intriguing, connecting with people he did know was scary because he would have to open up about himself and what he was going through. With each interaction, he hid behind his Twitter handle. With the realization that he was a husband, dad, son, brother, nephew, uncle, cousin, friend, neighbor and acquaintance who happens to have a rare disease, rare disease didn't define him, but it was a part of him and couldn't be ignored. 

 

Adding his name to his account was how he decided to move forward, to be transparent and vulnerable in hopes that it would help someone else along the way. It was time to own his story and his advocacy journey has only further advanced his story into this podcast- Parents As Rare. Adam hopes to continue building a community of parents who are working through a rare disease, to connect, support and provide comfort for others.



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:28:35 <![CDATA[Life with Leigh's]]> Wed, 13 Jul 2022 14:02:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/life-with-leigh39s https://energy-in-action-by-mitoaction.castos.com/episodes/life-with-leigh39s ENERGY IN ACTION - EPISODE 058

Life with Leigh’s

 

Krista Price is the mom of two children with Leigh's Syndrome. She shares her diagnosis journey and speaks to the importance of trusting your gut as a parent and advocating for your children to get answers. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about your mitochondrial disease journey?

My daughter Ellie is 8 and my son Henry is 6. Ellie started having developmental issues when she was four months old, mainly delayed in meeting milestones. She wasn't turning over, was sluggish, and not as active as you'd expect a baby to be. Within a few years, Ellie was behind in gross motor skills, fine motor skills and speech. Henry didn't exhibit the same symptoms. After a referral to a developmental specialist, Henry and Ellie were both scheduled for an MRI. The results revealed that the mitochondrial area of both of my children's brains were damaged and we were referred to a mitochondrial specialist to confirm a Leigh's Syndrome diagnosis. My kids were both prescribed the mito cocktail and they both responded well within a month. 

 

How are your children doing today?

They're doing really well. We just had a follow-up appointment with the mitochondrial specialist and they're progressing and happy with where they're at. We still have to deal with potential defects of organs related to Leigh's Syndrome and mitochondrial disease in general. Ellie has a heart defect called Wolff-Parkinson-White (WPW) syndrome. Both Ellie and Henry have eye turns which affects their vision. 

 

How do your kids manage having a rare disease?

They're very resilient, but they don't talk about it much. Ellie is more aware of the disease and the physical limitations of her body and it's been difficult to see her struggle with that. She's learning to navigate situations that arise at school. 

 

What advice do you have for parents newly on their diagnosis journey or parents that suspect something is not right with their child?

You know your child more than anyone. If you think something is wrong, something is off, or something should be addressed by the doctor, challenge the doctor. Speak up and don't be afraid to. 

 

As a caregiver, how do you find the balance of caring for your kids and caring for yourself?

I have learned the importance of managing my mental health. I think humor is so good to have in your life. I get comedic relief wherever I can. Educating myself about Leigh's Syndrome has helped me to cope as well. It's important to feel the hard feelings and then move on.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

...

]]> full 58 false ENERGY IN ACTION - EPISODE 058

Life with Leigh’s

 

Krista Price is the mom of two children with Leigh's Syndrome. She shares her diagnosis journey and speaks to the importance of trusting your gut as a parent and advocating for your children to get answers. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about your mitochondrial disease journey?

My daughter Ellie is 8 and my son Henry is 6. Ellie started having developmental issues when she was four months old, mainly delayed in meeting milestones. She wasn't turning over, was sluggish, and not as active as you'd expect a baby to be. Within a few years, Ellie was behind in gross motor skills, fine motor skills and speech. Henry didn't exhibit the same symptoms. After a referral to a developmental specialist, Henry and Ellie were both scheduled for an MRI. The results revealed that the mitochondrial area of both of my children's brains were damaged and we were referred to a mitochondrial specialist to confirm a Leigh's Syndrome diagnosis. My kids were both prescribed the mito cocktail and they both responded well within a month. 

 

How are your children doing today?

They're doing really well. We just had a follow-up appointment with the mitochondrial specialist and they're progressing and happy with where they're at. We still have to deal with potential defects of organs related to Leigh's Syndrome and mitochondrial disease in general. Ellie has a heart defect called Wolff-Parkinson-White (WPW) syndrome. Both Ellie and Henry have eye turns which affects their vision. 

 

How do your kids manage having a rare disease?

They're very resilient, but they don't talk about it much. Ellie is more aware of the disease and the physical limitations of her body and it's been difficult to see her struggle with that. She's learning to navigate situations that arise at school. 

 

What advice do you have for parents newly on their diagnosis journey or parents that suspect something is not right with their child?

You know your child more than anyone. If you think something is wrong, something is off, or something should be addressed by the doctor, challenge the doctor. Speak up and don't be afraid to. 

 

As a caregiver, how do you find the balance of caring for your kids and caring for yourself?

I have learned the importance of managing my mental health. I think humor is so good to have in your life. I get comedic relief wherever I can. Educating myself about Leigh's Syndrome has helped me to cope as well. It's important to feel the hard feelings and then move on.



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:30:36 <![CDATA[TJ Strong]]> Wed, 06 Jul 2022 14:50:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/tj-strong https://energy-in-action-by-mitoaction.castos.com/episodes/tj-strong ENERGY IN ACTION - EPISODE 057

TJ Strong

 

Jackie Bautz is the sibling to TJ, who has a mitochondrial disease called MELAS. She shares the story about her brother's diagnosis and what her family is doing to raise awareness and push for a cure. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about your family and your brother's diagnosis?

I come from a family with five siblings including myself and my younger brother TJ, who is 7 years younger. When TJ was born, he had failure to thrive issues, but overcame them and had a normal childhood until he was in middle school. Upon completing a school hearing test, he was referred to a hearing specialist where it was determined that he had 40% hearing loss, which he was born with. He was fitted with hearing aids and he went on to graduate high school and college. Two weeks after his college graduation, my parents called to tell me something was wrong with TJ, that they were rushing him to the hospital and weren't sure what was wrong. During a week in the hospital, he had two major strokes and was released from the hospital without answers. A week later, TJ was diagnosed with the mitochondrial disease called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). 

 

How has the MELAS diagnosis affected your relationship with your brother?

It has been a learning process. Conversations are different since his strokes because he has to think about his responses, which can be uncomfortable. TJ still has the same interests as before so we can still connect on the same things as before, but there are limitations to what he can do, like working or driving. 

 

How have your parents dealt with TJ's diagnosis?

They're very strong, but their plans for their lives has changed in that they moved to Florida to retire and travel, but they're caring for TJ and they can't leave him for more than a couple of hours at a time. It's been difficult, but they've stayed very strong.

 

Is anyone else in your family a genetic carrier for MELAS?

TJ is the only carrier. My mom and I underwent genetic testing and my mom isn't a carrier. This originated with TJ, which is even more rare. 

 

Can you share about TJ Strong?

TJ Strong originated the first week when TJ was still in the hospital. We had t-shirts made and we started researching the disease to see what we could do for TJ and also the community. I came across MitoAction and we do a lot of fundraising and get involved in any events that we can. I'm running the Falmouth Road Race for MitoAction this August for the third year. 



RESOURCES & LINKS MENTIONED

Falmouth Road Race

https://falmouthroadrace.com/

https://raceroster.com/events/2022/56070/the-2022-asics-falmouth-road-race/pledge/participant/14582580

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

]]> full 57 false ENERGY IN ACTION - EPISODE 057

TJ Strong

 

Jackie Bautz is the sibling to TJ, who has a mitochondrial disease called MELAS. She shares the story about her brother's diagnosis and what her family is doing to raise awareness and push for a cure. 

 

EPISODE HIGHLIGHTS

 

Can you tell us about your family and your brother's diagnosis?

I come from a family with five siblings including myself and my younger brother TJ, who is 7 years younger. When TJ was born, he had failure to thrive issues, but overcame them and had a normal childhood until he was in middle school. Upon completing a school hearing test, he was referred to a hearing specialist where it was determined that he had 40% hearing loss, which he was born with. He was fitted with hearing aids and he went on to graduate high school and college. Two weeks after his college graduation, my parents called to tell me something was wrong with TJ, that they were rushing him to the hospital and weren't sure what was wrong. During a week in the hospital, he had two major strokes and was released from the hospital without answers. A week later, TJ was diagnosed with the mitochondrial disease called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). 

 

How has the MELAS diagnosis affected your relationship with your brother?

It has been a learning process. Conversations are different since his strokes because he has to think about his responses, which can be uncomfortable. TJ still has the same interests as before so we can still connect on the same things as before, but there are limitations to what he can do, like working or driving. 

 

How have your parents dealt with TJ's diagnosis?

They're very strong, but their plans for their lives has changed in that they moved to Florida to retire and travel, but they're caring for TJ and they can't leave him for more than a couple of hours at a time. It's been difficult, but they've stayed very strong.

 

Is anyone else in your family a genetic carrier for MELAS?

TJ is the only carrier. My mom and I underwent genetic testing and my mom isn't a carrier. This originated with TJ, which is even more rare. 

 

Can you share about TJ Strong?

TJ Strong originated the first week when TJ was still in the hospital. We had t-shirts made and we started researching the disease to see what we could do for TJ and also the community. I came across MitoAction and we do a lot of fundraising and get involved in any events that we can. I'm running the Falmouth Road Race for MitoAction this August for the third year. 



RESOURCES & LINKS MENTIONED

Falmouth Road Race

https://falmouthroadrace.com/

https://raceroster.com/events/2022/56070/the-2022-asics-falmouth-road-race/pledge/participant/14582580

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:28:31 <![CDATA[Chris Freeman - Chronic Pain Dad]]> Wed, 22 Jun 2022 14:05:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/chris-freeman-chronic-pain-dad https://energy-in-action-by-mitoaction.castos.com/episodes/chris-freeman-chronic-pain-dad full 56 false 00:39:57 <![CDATA[Top 10 Tips for Empowerment & Being Your Own Advocate]]> Wed, 25 May 2022 19:51:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/top-10-tips-for-empowerment-being-your-own-advocate https://energy-in-action-by-mitoaction.castos.com/episodes/top-10-tips-for-empowerment-being-your-own-advocate  

ENERGY IN ACTION - EPISODE 051

Top 10 Tips for Empowerment & Being Your Own Advocate

 

Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for. 

 

EPISODE HIGHLIGHTS

 

  1. Become an expert in your own disease

Get an accurate diagnosis because without a specific diagnosis, a lot of doors are closed to clinical trials, insurance coverage, participating in a patient registry or general eligibility for treatment. After you have a diagnosis, become an expert on your disease and diagnosis because no one will be invested in it like you are, whether for your child or yourself.  

 

  1. Know your baseline

Baseline is a medical concept important for clinical trials. Determine your baseline by considering your average good days and bad days. Know and document your baseline so if you start a new treatment or therapy, you can identify how it's affecting your disease.

 

  1. Tell people about your disease and know how to ask for support

To set boundaries, use a script and be specific that you're not seeking advice, only support. Practice saying, "I'm going to talk to you about something I'm dealing with and I don't need your advice. I just want you to hear me and be there for support". If someone asks how they can help, provide options that would be helpful.

 

  1. Reflect like an interviewer

Allow questions to serve as an opportunity to raise awareness about your disease and always restate a question in your answer. 

 

  1. Keep good records

Use technology to stay organized and ensure your medical records are accessible. Keeping thorough and well-organized records is easier for you, but also helps when you have an opportunity to participate in a clinical trial, research study or equipment grant.

 

  1. Stay informed

Subscribe to all of the newsletters on patient sites because knowledge is power. Set up Google alerts for keywords which will provide you a periodic digest around the keyword. You can also stay informed by joining social media or local support groups.

 

  1. Prioritize your symptoms and set goals

You won't be able to address every concern in every appointment, so prioritize your symptoms to discuss them with your physician. Daily tracking of your baseline data will help you know if symptoms are improving or getting worse and know if the symptom should be prioritized at your next check-up. 

 

  1. Be a micro influencer

Documenting your journey can spread awareness to other people. Micro influencers in the disease space are respected and powerful because they make a difference.

 

  1. Hire yourself

You are the Director of Communications for yourself or your child's diagnosis. Provide updates and check in regularly with everyone on your team and keep developing relationships in your netw...

]]> full 51 false  

ENERGY IN ACTION - EPISODE 051

Top 10 Tips for Empowerment & Being Your Own Advocate

 

Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for. 

 

EPISODE HIGHLIGHTS

 

  1. Become an expert in your own disease

Get an accurate diagnosis because without a specific diagnosis, a lot of doors are closed to clinical trials, insurance coverage, participating in a patient registry or general eligibility for treatment. After you have a diagnosis, become an expert on your disease and diagnosis because no one will be invested in it like you are, whether for your child or yourself.  

 

  1. Know your baseline

Baseline is a medical concept important for clinical trials. Determine your baseline by considering your average good days and bad days. Know and document your baseline so if you start a new treatment or therapy, you can identify how it's affecting your disease.

 

  1. Tell people about your disease and know how to ask for support

To set boundaries, use a script and be specific that you're not seeking advice, only support. Practice saying, "I'm going to talk to you about something I'm dealing with and I don't need your advice. I just want you to hear me and be there for support". If someone asks how they can help, provide options that would be helpful.

 

  1. Reflect like an interviewer

Allow questions to serve as an opportunity to raise awareness about your disease and always restate a question in your answer. 

 

  1. Keep good records

Use technology to stay organized and ensure your medical records are accessible. Keeping thorough and well-organized records is easier for you, but also helps when you have an opportunity to participate in a clinical trial, research study or equipment grant.

 

  1. Stay informed

Subscribe to all of the newsletters on patient sites because knowledge is power. Set up Google alerts for keywords which will provide you a periodic digest around the keyword. You can also stay informed by joining social media or local support groups.

 

  1. Prioritize your symptoms and set goals

You won't be able to address every concern in every appointment, so prioritize your symptoms to discuss them with your physician. Daily tracking of your baseline data will help you know if symptoms are improving or getting worse and know if the symptom should be prioritized at your next check-up. 

 

  1. Be a micro influencer

Documenting your journey can spread awareness to other people. Micro influencers in the disease space are respected and powerful because they make a difference.

 

  1. Hire yourself

You are the Director of Communications for yourself or your child's diagnosis. Provide updates and check in regularly with everyone on your team and keep developing relationships in your network. 

 

  1. Amplify your voice

Your experience is valuable and only you can share it. No one else can represent your experience. Participate in clinical trials, patient registries, surveys and interviews. 



RESOURCES & LINKS MENTIONED

Zogenix

https://zogenix.com/

MayBeMito

https://www.maybemito.com/

MitoAction Mobile

https://www.mitoaction.org/mobile_new/

AllStripes

https://www.allstripes.com/

UMDF

https://www.umdf.org/

Cure Mito

https://www.curemito.org/

International Mito Patients

https://www.mitopatients.org/

Mito Canada

https://mitocanada.org/

Create a Google Alert

https://support.google.com/websearch/answer/4815696?hl=en

Life with a Vent

https://www.youtube.com/channel/UCHwOT3pjEA3EgShKomTuTDw

 

The Mito Girl

https://www.instagram.com/themitogirl

Jeremiah Gracen TK2D Warrior

https://ne-np.facebook.com/JeremiahGracenTK2DWarrior



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 01:03:06 <![CDATA[Dr. Stephanie Mihalas - Find Your Balance, Find Your Center]]> Wed, 18 May 2022 16:30:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/dr-stephanie-mihalas-find-your-balance-find-your-center https://energy-in-action-by-mitoaction.castos.com/episodes/dr-stephanie-mihalas-find-your-balance-find-your-center  

PARENTS AS RARE - EPISODE 055

Dr. Stephanie Mihalas - Find Your Balance, Find Your Center

 

Dr. Stephanie Mihalas is a licensed psychologist, nationally certified school psychologist and a mental health and chronic illness advocate. She's also a rare disease mom and she has a lot of valuable insight to share with parents.

 

EPISODE HIGHLIGHTS

 

Can you introduce yourself and tell us where your rare disease journey began?

I'm a psychologist and mental health and chronic advocate in Los Angeles, California. I'm also a wife and parent to a daughter in kindergarten. I've had chronic illness since I was 16 years old, but my rare disease journey began about a year after having my daughter. 

 

How do you navigate rare disease with your husband and daughter?

With my training as a child psychologist, this weighs on me a lot. I know the things that create a space for a developing child and I feel like I'm failing or can't give my daughter the perfect space. We try to have transparency to the best of our ability that is appropriate for her. She knows I have an illness, she she's my injections, sees my medications and she knows what's going on. We have appropriate discussions so that when things change, I'm able to reference it so she doesn't internalize that she has done something wrong, as kids often do at her age, and help her to deal with frustration, sadness and feelings in an open way.

 

How can you talk to kids in a developmentally appropriate way about rare disease or chronic illness?

It's important to have a continuing dialogue, even as kids get older, and never to take for granted that a child through different stages needs conversations around the illness or disease. Children, teens and young adults carry an immense weight when a parent has a chronic illness or rare disease and it's important for a parent to take responsibility and check in with them periodically. With younger kids, language can be difficult, so incorporating movement during a conversation can be helpful. You can throw a ball, take a walk or do art. If a child doesn't want to talk, don't push it. Also make available someone for a child to talk to that isn't you, like a therapist, another family member or clergy.

 

CONNECT WITH STEPHANIE

The Center for Well Being

https://askdrstephanie.com/

Twitter @askdrstephanie

https://twitter.com/askdrstephanie

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

...

]]> full 55 false  

PARENTS AS RARE - EPISODE 055

Dr. Stephanie Mihalas - Find Your Balance, Find Your Center

 

Dr. Stephanie Mihalas is a licensed psychologist, nationally certified school psychologist and a mental health and chronic illness advocate. She's also a rare disease mom and she has a lot of valuable insight to share with parents.

 

EPISODE HIGHLIGHTS

 

Can you introduce yourself and tell us where your rare disease journey began?

I'm a psychologist and mental health and chronic advocate in Los Angeles, California. I'm also a wife and parent to a daughter in kindergarten. I've had chronic illness since I was 16 years old, but my rare disease journey began about a year after having my daughter. 

 

How do you navigate rare disease with your husband and daughter?

With my training as a child psychologist, this weighs on me a lot. I know the things that create a space for a developing child and I feel like I'm failing or can't give my daughter the perfect space. We try to have transparency to the best of our ability that is appropriate for her. She knows I have an illness, she she's my injections, sees my medications and she knows what's going on. We have appropriate discussions so that when things change, I'm able to reference it so she doesn't internalize that she has done something wrong, as kids often do at her age, and help her to deal with frustration, sadness and feelings in an open way.

 

How can you talk to kids in a developmentally appropriate way about rare disease or chronic illness?

It's important to have a continuing dialogue, even as kids get older, and never to take for granted that a child through different stages needs conversations around the illness or disease. Children, teens and young adults carry an immense weight when a parent has a chronic illness or rare disease and it's important for a parent to take responsibility and check in with them periodically. With younger kids, language can be difficult, so incorporating movement during a conversation can be helpful. You can throw a ball, take a walk or do art. If a child doesn't want to talk, don't push it. Also make available someone for a child to talk to that isn't you, like a therapist, another family member or clergy.

 

CONNECT WITH STEPHANIE

The Center for Well Being

https://askdrstephanie.com/

Twitter @askdrstephanie

https://twitter.com/askdrstephanie

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:41:09 <![CDATA[Advocate Like a Father]]> Wed, 11 May 2022 14:03:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/advocate-like-a-father https://energy-in-action-by-mitoaction.castos.com/episodes/advocate-like-a-father ENERGY IN ACTION - EPISODE 054

Advocate Like a Father

 

David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he's doing in his home state of Kentucky. 

 

EPISODE HIGHLIGHTS

 

Tell us about your daughter Katherine and her diagnosis journey.

Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expecting she'd be walking independently, she hit a plateau. We were no longer seeing a rapid development of her motor skills. Despite assistance through physical therapy and occupational therapy, Katherine still wasn't able to walk more than a couple steps without falling. At two years old, she was referred to a neurologist for an MRI and we started our journey with an incorrect diagnosis of Infantile Neuroaxonal Dystrophy (INAD), a rare progressive disorder, based on what the doctors gathered from the MRI. We got to know other INAD families, researched a lot of medical literature, connected with experts and quickly became convinced that Katherine didn't have INAD. Whole-exome sequencing results later revealed that Katherine had a mutation to a recessive nuclear gene called NUBPL.

 

What was it like to push through what you suspected was an incorrect diagnosis?

That was the first lesson we learned- that as Katherine's parents we had to fight. Getting a diagnosis is hard, treatments are rarely available, every step of the way there are hurdles to jump for the insurance company. The insurance company didn't want to cover genetic testing to confirm a diagnosis, which could open up treatment options. The rejection made me angry and I appealed to the insurance company, eventually getting the genetic testing approved. 

 

Can you tell us about your work on Kentucky Revised Statute 304.17A-258?

The bill we got passed requires private insurance to cover mito cocktails. We started with an insurance denial for a mito cocktail for Katherine. I appealed to the insurance company to get the prescription for Katherine, but also started looking into getting the law changed so other families didn't have to go through what we did. I discovered a law that mandated private insurance covered certain therapeutic food, formulas and supplements for certain metabolic or genetic conditions. Looking at the way the statute was written, I believed it would cover mito cocktails. I decided to attempt to get the statute amended to include mito cocktails and remove the compounding pharmacy restriction.



RESOURCES & LINKS MENTIONED

NUBPL Foundation Website

http://www.nubpl.org/

NUBPL Foundation Facebook Page

https://www.facebook.com/nubpl.org

Kentucky Revised Statute 304.17A-258

https://apps.legislature.ky.gov/law/statutes/statute.aspx?id=45441#:~:text=Page%201-,304.17A-258



CONNECT WITH MITOACTION

Website

<...

]]> full 54 false ENERGY IN ACTION - EPISODE 054

Advocate Like a Father

 

David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he's doing in his home state of Kentucky. 

 

EPISODE HIGHLIGHTS

 

Tell us about your daughter Katherine and her diagnosis journey.

Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expecting she'd be walking independently, she hit a plateau. We were no longer seeing a rapid development of her motor skills. Despite assistance through physical therapy and occupational therapy, Katherine still wasn't able to walk more than a couple steps without falling. At two years old, she was referred to a neurologist for an MRI and we started our journey with an incorrect diagnosis of Infantile Neuroaxonal Dystrophy (INAD), a rare progressive disorder, based on what the doctors gathered from the MRI. We got to know other INAD families, researched a lot of medical literature, connected with experts and quickly became convinced that Katherine didn't have INAD. Whole-exome sequencing results later revealed that Katherine had a mutation to a recessive nuclear gene called NUBPL.

 

What was it like to push through what you suspected was an incorrect diagnosis?

That was the first lesson we learned- that as Katherine's parents we had to fight. Getting a diagnosis is hard, treatments are rarely available, every step of the way there are hurdles to jump for the insurance company. The insurance company didn't want to cover genetic testing to confirm a diagnosis, which could open up treatment options. The rejection made me angry and I appealed to the insurance company, eventually getting the genetic testing approved. 

 

Can you tell us about your work on Kentucky Revised Statute 304.17A-258?

The bill we got passed requires private insurance to cover mito cocktails. We started with an insurance denial for a mito cocktail for Katherine. I appealed to the insurance company to get the prescription for Katherine, but also started looking into getting the law changed so other families didn't have to go through what we did. I discovered a law that mandated private insurance covered certain therapeutic food, formulas and supplements for certain metabolic or genetic conditions. Looking at the way the statute was written, I believed it would cover mito cocktails. I decided to attempt to get the statute amended to include mito cocktails and remove the compounding pharmacy restriction.



RESOURCES & LINKS MENTIONED

NUBPL Foundation Website

http://www.nubpl.org/

NUBPL Foundation Facebook Page

https://www.facebook.com/nubpl.org

Kentucky Revised Statute 304.17A-258

https://apps.legislature.ky.gov/law/statutes/statute.aspx?id=45441#:~:text=Page%201-,304.17A-258



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:43:30 <![CDATA[Finding Help with the Cost of Medications]]> Fri, 06 May 2022 18:15:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/finding-help-with-the-cost-of-medications https://energy-in-action-by-mitoaction.castos.com/episodes/finding-help-with-the-cost-of-medications  

ENERGY IN ACTION - EPISODE 053

Finding Help with the Cost of Medications

 

Carla Dellaporta is the Director of User Engagement for NeedyMeds, a 501(c)(3) national non-profit that connects people to programs that will help them afford their medications and other healthcare costs. 

 

EPISODE HIGHLIGHTS

 

What is NeedyMeds?

NeedyMeds is a national non-profit with a mission to educate and empower those seeking affordable healthcare. We're here to connect people, free and anonymously, to healthcare cost-saving programs and educational resources. 

 

How does a patient qualify for a patient assistance program?

If someone is having difficulty affording any healthcare expense, we encourage people to turn to NeedyMeds. Our experts will make a connection to a program that will help  save on expenses. Each program has eligibility requirements and they vary. In speaking with a call center counselor or using our website, someone will know right away if they qualify for a program.

 

In addition to medication assistance, what other healthcare cost-saving programs are available?

After a call center counselor assists with any medicine expense programs available, they use the diagnosis-based assistance program tool to identify any additional savings for expenses related to a particular diagnosis. This tool can also be used on our website. There are programs available to help with expenses for equipment, electronics, vehicle repairs and modifications, living expenses, household expenses, medical expenses and even respite expenses. 

 

What is the drug discount card and how do you use it?

The NeedyMeds drug discount card is free and can save on medication costs when used at over 65,000 pharmacies nationwide. There's a pharmacy search tool on the website, or you can call the toll free number, to find a pharmacy near you that accepts the NeedyMeds drug discount card. The NeedyMeds drug discount card can be used for prescriptions and also over-the-counter medications and supplements when your healthcare provider writes a prescription for them. Not every drug will have a savings option, but we have a drug savings calculator on our website where you can see what a medication will cost in advance of visiting a pharmacy.

 

Do you have to have insurance to qualify for assistance programs?

You can use the drug discount card with or without insurance. For other healthcare cost-saving programs, it will depend on the eligibility criteria for each program.



RESOURCES & LINKS MENTIONED

NeedyMeds Website

needymeds.org

Marcel’s Way Family Fund

mitoaction.org/marcelsway/

NeedyMeds Drug Discount Card

https://www.needymeds.org/drug-discount-card

Partner with NeedyMeds

https://www.needymeds.org/partner-with-needymeds

NeedyMeds...

]]> full 53 false  

ENERGY IN ACTION - EPISODE 053

Finding Help with the Cost of Medications

 

Carla Dellaporta is the Director of User Engagement for NeedyMeds, a 501(c)(3) national non-profit that connects people to programs that will help them afford their medications and other healthcare costs. 

 

EPISODE HIGHLIGHTS

 

What is NeedyMeds?

NeedyMeds is a national non-profit with a mission to educate and empower those seeking affordable healthcare. We're here to connect people, free and anonymously, to healthcare cost-saving programs and educational resources. 

 

How does a patient qualify for a patient assistance program?

If someone is having difficulty affording any healthcare expense, we encourage people to turn to NeedyMeds. Our experts will make a connection to a program that will help  save on expenses. Each program has eligibility requirements and they vary. In speaking with a call center counselor or using our website, someone will know right away if they qualify for a program.

 

In addition to medication assistance, what other healthcare cost-saving programs are available?

After a call center counselor assists with any medicine expense programs available, they use the diagnosis-based assistance program tool to identify any additional savings for expenses related to a particular diagnosis. This tool can also be used on our website. There are programs available to help with expenses for equipment, electronics, vehicle repairs and modifications, living expenses, household expenses, medical expenses and even respite expenses. 

 

What is the drug discount card and how do you use it?

The NeedyMeds drug discount card is free and can save on medication costs when used at over 65,000 pharmacies nationwide. There's a pharmacy search tool on the website, or you can call the toll free number, to find a pharmacy near you that accepts the NeedyMeds drug discount card. The NeedyMeds drug discount card can be used for prescriptions and also over-the-counter medications and supplements when your healthcare provider writes a prescription for them. Not every drug will have a savings option, but we have a drug savings calculator on our website where you can see what a medication will cost in advance of visiting a pharmacy.

 

Do you have to have insurance to qualify for assistance programs?

You can use the drug discount card with or without insurance. For other healthcare cost-saving programs, it will depend on the eligibility criteria for each program.



RESOURCES & LINKS MENTIONED

NeedyMeds Website

needymeds.org

Marcel’s Way Family Fund

mitoaction.org/marcelsway/

NeedyMeds Drug Discount Card

https://www.needymeds.org/drug-discount-card

Partner with NeedyMeds

https://www.needymeds.org/partner-with-needymeds

NeedyMeds Toll Free HelpLine 1-800-503-6897



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction










]]> 00:31:40 <![CDATA[Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions]]> Wed, 20 Apr 2022 15:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/lisa-weinberger-be-your-own-advocate-listen-to-your-body-take-control-of-your-health-ask-questions https://energy-in-action-by-mitoaction.castos.com/episodes/lisa-weinberger-be-your-own-advocate-listen-to-your-body-take-control-of-your-health-ask-questions  

PARENTS AS RARE - EPISODE 052

Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions

 

Lisa Weinberger is a wife, mother, digital marketing professor and business owner with over 20 years of experience designing and leading corporate marketing programs. We talk in this episode about balancing work and family while living in the world of rare disease and chronic illness. 

 

EPISODE HIGHLIGHTS

 

When you were navigating a diagnosis, how did that affect your family at the time?

I was diagnosed with a rare disease called Pemphigus Vulgaris in 2018 after 30 years of varying symptoms. My disease rarely showed physical symptoms and I wasn't open with my daughter or in-laws who lived just down the street. Around the same time that I began getting blisters and was concerned about hiding them from my daughter, my husband had a heart attack which captured her attention more. Afterwards, I spoke with her about what was going on, explaining my auto-immune disease and the symptoms I was experiencing. 

 

When things are especially challenging because of your disease, how do you push through the days?

I have a glimmer of hope and I know I've been in similar situations before. I am a fighter and have a mentality to keep going. I push myself and I'll continue to push myself with time to rest as needed, but I do tend to overdo it and not pace myself during the times I feel the best. 

 

How do you adjust your life as a result of your circumstances and keep up with your family's activities?

My husband did a lot when my daughter was younger, like going to birthday parties and after-school activities. My good hours are earlier in the day, so we'd go to the park and spend time with her during the earlier hours of the day. We didn't have help at the time, so my husband and I worked together to balance everything. Now that my daughter is a teenager, she's more settled and independent.

 

What advice do you have for parents listening?

Children observe and understand more than we sometimes think they can, especially if they're a little older and have access to the internet. If they do have the ability to research things on the internet, sit down with them and show them where to find good sources of information about your disease. If your child is able to talk about it, keep communication open with them.

 

CONNECT WITH LISA

Website

https://pearlywrites.com/

Twitter @LisaWeinberger

https://twitter.com/lisaweinberger

Linkedin @pearlywrites

https://www.linkedin.com/in/pearlywrites/

 

RESOURCES MENTIONED

It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand

https://www.amazon.com/Its-That-Youre-Not-Understand/dp/1622039076

 

FOLLOW ADAM JOHNSON...

]]> full 52 false  

PARENTS AS RARE - EPISODE 052

Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions

 

Lisa Weinberger is a wife, mother, digital marketing professor and business owner with over 20 years of experience designing and leading corporate marketing programs. We talk in this episode about balancing work and family while living in the world of rare disease and chronic illness. 

 

EPISODE HIGHLIGHTS

 

When you were navigating a diagnosis, how did that affect your family at the time?

I was diagnosed with a rare disease called Pemphigus Vulgaris in 2018 after 30 years of varying symptoms. My disease rarely showed physical symptoms and I wasn't open with my daughter or in-laws who lived just down the street. Around the same time that I began getting blisters and was concerned about hiding them from my daughter, my husband had a heart attack which captured her attention more. Afterwards, I spoke with her about what was going on, explaining my auto-immune disease and the symptoms I was experiencing. 

 

When things are especially challenging because of your disease, how do you push through the days?

I have a glimmer of hope and I know I've been in similar situations before. I am a fighter and have a mentality to keep going. I push myself and I'll continue to push myself with time to rest as needed, but I do tend to overdo it and not pace myself during the times I feel the best. 

 

How do you adjust your life as a result of your circumstances and keep up with your family's activities?

My husband did a lot when my daughter was younger, like going to birthday parties and after-school activities. My good hours are earlier in the day, so we'd go to the park and spend time with her during the earlier hours of the day. We didn't have help at the time, so my husband and I worked together to balance everything. Now that my daughter is a teenager, she's more settled and independent.

 

What advice do you have for parents listening?

Children observe and understand more than we sometimes think they can, especially if they're a little older and have access to the internet. If they do have the ability to research things on the internet, sit down with them and show them where to find good sources of information about your disease. If your child is able to talk about it, keep communication open with them.

 

CONNECT WITH LISA

Website

https://pearlywrites.com/

Twitter @LisaWeinberger

https://twitter.com/lisaweinberger

Linkedin @pearlywrites

https://www.linkedin.com/in/pearlywrites/

 

RESOURCES MENTIONED

It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand

https://www.amazon.com/Its-That-Youre-Not-Understand/dp/1622039076

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:39:42 <![CDATA[You Never Give Up Hope in Life]]> Fri, 08 Apr 2022 05:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/you-never-give-up-hope-in-life https://energy-in-action-by-mitoaction.castos.com/episodes/you-never-give-up-hope-in-life  

ENERGY IN ACTION - EPISODE 050

You Never Give Up Hope in Life

 

Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope. 



EPISODE HIGHLIGHTS

 

When did you first experience symptoms?

It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye doctor wasn't sure what was causing my symptoms. One day, I couldn't see and went back to see my eye doctor where I received a referral to a cornea specialist. I was referred to another specialist for a biopsy and received a diagnosis of a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). 

 

How was your wedding centered around mitochondrial disease?

Watching a sports program one day, I noticed Ken Rosenthal was wearing a mito bow tie. I wrote to him, introduced myself, told him I was getting married and that I noticed his bow tie. I ordered the same bow ties for the men in the wedding party and the bridesmaids wore green dresses. During the wedding, my nephew spoke about the meaning of the bow ties and the disease they represented. My wedding was one of the best days of my life, I felt great and I had the wedding of my dreams. 

 

What has life been like since your wedding?

I have since begun having issues with my legs and my disease has now spread to my legs and arms. I've been forced to slow down. I had to mourn the loss of my career and success. But I work from home for my husband's law firm now and I'm finding my purpose despite CPEO and its progressing effects.



RESOURCES & LINKS MENTIONED

Bride Raises Mito Awareness

https://www.mitoaction.org/bride-raises-mito-awareness/

Luna

https://www.getluna.com/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> full 50 false  

ENERGY IN ACTION - EPISODE 050

You Never Give Up Hope in Life

 

Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope. 



EPISODE HIGHLIGHTS

 

When did you first experience symptoms?

It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye doctor wasn't sure what was causing my symptoms. One day, I couldn't see and went back to see my eye doctor where I received a referral to a cornea specialist. I was referred to another specialist for a biopsy and received a diagnosis of a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). 

 

How was your wedding centered around mitochondrial disease?

Watching a sports program one day, I noticed Ken Rosenthal was wearing a mito bow tie. I wrote to him, introduced myself, told him I was getting married and that I noticed his bow tie. I ordered the same bow ties for the men in the wedding party and the bridesmaids wore green dresses. During the wedding, my nephew spoke about the meaning of the bow ties and the disease they represented. My wedding was one of the best days of my life, I felt great and I had the wedding of my dreams. 

 

What has life been like since your wedding?

I have since begun having issues with my legs and my disease has now spread to my legs and arms. I've been forced to slow down. I had to mourn the loss of my career and success. But I work from home for my husband's law firm now and I'm finding my purpose despite CPEO and its progressing effects.



RESOURCES & LINKS MENTIONED

Bride Raises Mito Awareness

https://www.mitoaction.org/bride-raises-mito-awareness/

Luna

https://www.getluna.com/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:39:04 <![CDATA[Living Rare - An Adult's Perspective]]> Wed, 23 Mar 2022 19:30:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/living-rare-an-adult39s-perspective https://energy-in-action-by-mitoaction.castos.com/episodes/living-rare-an-adult39s-perspective  

ENERGY IN ACTION - EPISODE 049

Living Rare - An Adult's Perspective

 

Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like. 

 

EPISODE HIGHLIGHTS

 

When did your CPT2 symptoms begin?

I had difficulty keeping up with other kids when I was young. In high school, I excelled in the sport of swimming, but after workouts I had difficulty climbing out of the pool. In college, I kept getting rhabdomyolysis, the breakdown of damaged muscle which results in the release of muscle cell contents into the blood, which can further lead to kidney failure. It wasn't until I was an adult that I was diagnosed with adult onset myopathic CPT2. 

 

At what point did you realize your symptoms were serious and you needed to seek answers?

Years later after I was married and had kids, I started experiencing chest pain and was told I was having a heart attack after undergoing a stress test. My wife introduced me to a cardiologist who just started his own practice. He looked over my medical history and determined I didn't have a heart attack at all. I told him about my symptoms and he recalled a speaker he heard at a conference and said I had some sort of metabolic muscle disorder. He referred me to an endocrinologist, who was confident that I had CPT2 and could prove it through a series of tests. Not the symptoms I experienced from childhood, but the heart attack is what brought me to a diagnosis. 

 

What primary symptoms do you experience with CP2?

People express symptoms differently at different times. For me, if I overdo it I get tired, I get muscle fatigue and lightheaded. I started taking Triheptanoin (C7), which helps to manage my symptoms in addition to diet and exercise. Before I started taking C7 I would get very sick and now I get sick and recover like a normal person would. 

 

How did receiving a diagnosis impact your life?

I learned about what my diet should be like, what exercise should include and how to walk the tightrope between building and breaking muscle. My physician suggested I participate in a clinical trial, which was a turning point in my journey. 



RESOURCES & LINKS MENTIONED

What can you do despite CPT Type II (CPT2) Facebook Group

https://www.facebook.com/groups/CptType2/about/

Ultragenyx

https://www.ultragenyx.com/

2022 International Metabolic Conference

https://www.mitoaction.org/internationalmetabolicconference/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

]]> full 49 false  

ENERGY IN ACTION - EPISODE 049

Living Rare - An Adult's Perspective

 

Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like. 

 

EPISODE HIGHLIGHTS

 

When did your CPT2 symptoms begin?

I had difficulty keeping up with other kids when I was young. In high school, I excelled in the sport of swimming, but after workouts I had difficulty climbing out of the pool. In college, I kept getting rhabdomyolysis, the breakdown of damaged muscle which results in the release of muscle cell contents into the blood, which can further lead to kidney failure. It wasn't until I was an adult that I was diagnosed with adult onset myopathic CPT2. 

 

At what point did you realize your symptoms were serious and you needed to seek answers?

Years later after I was married and had kids, I started experiencing chest pain and was told I was having a heart attack after undergoing a stress test. My wife introduced me to a cardiologist who just started his own practice. He looked over my medical history and determined I didn't have a heart attack at all. I told him about my symptoms and he recalled a speaker he heard at a conference and said I had some sort of metabolic muscle disorder. He referred me to an endocrinologist, who was confident that I had CPT2 and could prove it through a series of tests. Not the symptoms I experienced from childhood, but the heart attack is what brought me to a diagnosis. 

 

What primary symptoms do you experience with CP2?

People express symptoms differently at different times. For me, if I overdo it I get tired, I get muscle fatigue and lightheaded. I started taking Triheptanoin (C7), which helps to manage my symptoms in addition to diet and exercise. Before I started taking C7 I would get very sick and now I get sick and recover like a normal person would. 

 

How did receiving a diagnosis impact your life?

I learned about what my diet should be like, what exercise should include and how to walk the tightrope between building and breaking muscle. My physician suggested I participate in a clinical trial, which was a turning point in my journey. 



RESOURCES & LINKS MENTIONED

What can you do despite CPT Type II (CPT2) Facebook Group

https://www.facebook.com/groups/CptType2/about/

Ultragenyx

https://www.ultragenyx.com/

2022 International Metabolic Conference

https://www.mitoaction.org/internationalmetabolicconference/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:43:18 <![CDATA[Parenting & Living Life With Chronic Pain - Ross McCreery ]]> Wed, 16 Mar 2022 17:15:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/parenting-living-life-with-chronic-pain-ross-mccreery https://energy-in-action-by-mitoaction.castos.com/episodes/parenting-living-life-with-chronic-pain-ross-mccreery  

PARENTS AS RARE - EPISODE 048

Parenting & Living Life With Chronic Pain - Ross McCreery 

 

Ross McCreery is a dad, husband, advocate, writer and speaker. In 2006, Ross was diagnosed with a rare disease called Complex Regional Pain Syndrome (CRPS). In 2016 he founded CRPS Awareness Day in Saskatchewan to educate the public and raise awareness for those living with the disease. Ross also serves as a board member for the SaskPain Foundation where he hopes to help improve and change the lives of those living with chronic pain. He also advocates and speaks to serve as a voice for those who suffer chronic pain, he's authored several published pieces, appeared on television programs and believes in the power of a strong community of rare disease advocates with diverse voices who can encourage change and progress for all.

 

EPISODE HIGHLIGHTS

 

Can you tell us a little bit about yourself and your rare disease diagnosis story?

I was successful in my career, I was married and life was going in the direction I wanted it to go. I had just came back from China after adopting my first daughter and had what should have been a simple surgery. The swelling and loss of mobility in my hand that resulted was the onset of my disease symptoms and Complex Regional Pain Syndrome (CRPS) diagnosis journey.

 

What was your experience like discussing your CRPS diagnosis with your children?

We say it how it is and believe in transparency. From the earliest age that they could understand, we had conversations with them about how things needed to be done differently. Having conversations with our kids and being honest and up front with them was a daily occurrence, especially as we adapted and changed. 

 

How have your conversations evolved as they've grown older?

Conversations are simpler now because they understand better and have a background living with it for awhile. We don't have to explain as much, they're more understanding of the situation and can figure out a lot themselves. We still have conversations with them at times as things continue to happen or change.

 

What wisdom do you have to share with listeners?

We don't value our stories enough. Our stories are our power and it's the power of the story that touches people. I encourage people to share their story. 



CONNECT WITH ROSS

Contact

https://painfullyoptomistic.com/contact-me

Instagram

https://www.instagram.com/painfullyoptomistic/

Twitter

https://twitter.com/Rossco006

Facebook

https://www.facebook.com/Painfully-Optomistic-192150737539022/

 

RESOURCES MENTIONED

Painfully Optomistic Blog

https://...

]]> full 48 false  

PARENTS AS RARE - EPISODE 048

Parenting & Living Life With Chronic Pain - Ross McCreery 

 

Ross McCreery is a dad, husband, advocate, writer and speaker. In 2006, Ross was diagnosed with a rare disease called Complex Regional Pain Syndrome (CRPS). In 2016 he founded CRPS Awareness Day in Saskatchewan to educate the public and raise awareness for those living with the disease. Ross also serves as a board member for the SaskPain Foundation where he hopes to help improve and change the lives of those living with chronic pain. He also advocates and speaks to serve as a voice for those who suffer chronic pain, he's authored several published pieces, appeared on television programs and believes in the power of a strong community of rare disease advocates with diverse voices who can encourage change and progress for all.

 

EPISODE HIGHLIGHTS

 

Can you tell us a little bit about yourself and your rare disease diagnosis story?

I was successful in my career, I was married and life was going in the direction I wanted it to go. I had just came back from China after adopting my first daughter and had what should have been a simple surgery. The swelling and loss of mobility in my hand that resulted was the onset of my disease symptoms and Complex Regional Pain Syndrome (CRPS) diagnosis journey.

 

What was your experience like discussing your CRPS diagnosis with your children?

We say it how it is and believe in transparency. From the earliest age that they could understand, we had conversations with them about how things needed to be done differently. Having conversations with our kids and being honest and up front with them was a daily occurrence, especially as we adapted and changed. 

 

How have your conversations evolved as they've grown older?

Conversations are simpler now because they understand better and have a background living with it for awhile. We don't have to explain as much, they're more understanding of the situation and can figure out a lot themselves. We still have conversations with them at times as things continue to happen or change.

 

What wisdom do you have to share with listeners?

We don't value our stories enough. Our stories are our power and it's the power of the story that touches people. I encourage people to share their story. 



CONNECT WITH ROSS

Contact

https://painfullyoptomistic.com/contact-me

Instagram

https://www.instagram.com/painfullyoptomistic/

Twitter

https://twitter.com/Rossco006

Facebook

https://www.facebook.com/Painfully-Optomistic-192150737539022/

 

RESOURCES MENTIONED

Painfully Optomistic Blog

https://painfullyoptomistic.com/

No Time Like the Future: An Optimist Considers Mortality

https://www.amazon.com/Time-Like-Future-Considers-Mortality/dp/1250265614

SaskPain Foundation

https://www.saskpain.ca/



FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:49:24 <![CDATA[The Strength of a Mom]]> Fri, 04 Mar 2022 20:40:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/the-strength-of-a-mom https://energy-in-action-by-mitoaction.castos.com/episodes/the-strength-of-a-mom  

ENERGY IN ACTION - EPISODE 047

The Strength of a Mom

 

Tonie DeLorenze is impacted by mitochondrial disease herself and also has three children with mitochondrial disease.

 

EPISODE HIGHLIGHTS

 

What has your journey been like with mitochondrial disease?

I was an athlete in high school, but always had issues with breathing and lung capacity. As I got older, more symptoms developed, all related to my endocrine system. I had twins in 1995, had another child in 1997 and another in 2000. In 2000, I had a heart attack, had to have my thyroid removed, developed PCOS and a lot of other endocrine-related issues began surfacing. I discovered that I had mitochondrial disease through testing performed on my children, who also have mitochondrial disease.

 

What is your advice for parents who feel they need to advocate for their children and push for a diagnosis?

I believe you know your child better than anyone. Do your research, ask questions and push for answers. 

 

What's your advice for parents newly on the diagnosis journey?

Control your fear. It's normal for a parent or someone who doesn't feel right to be afraid of what it could be. I had no one to talk to or turn to for support, but if you have someone to support you, seek them out. If you don't, reach out to me. As difficult as it is, stay positive and stay strong. It doesn't help anyone if you're not in a headspace of positivity. Lastly, never ever compare your child to another child. As a caregiver, find a way to carve time out for yourself and squeeze in selfcare.

 

From a mother's perspective, what did you need from those around you that you didn't get when you were navigating your journey with young kids?

Just be there to talk and offer a sense of normalcy. I was so tired and would have loved to have time to sleep and shower. I went through a dark time and it didn't have to be that way. It was bad enough that my kids were sick, but with a little support from people who were in my life before my kids were born, it would have been life changing for me.



RESOURCES & LINKS MENTIONED

Peach: An Exceptional Teen's Inspiring Journey for Universal Acceptance

https://www.amazon.com/Peach-Exceptional-Inspiring-Universal-Acceptance/dp/1539367339/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1646425842&sr=1-1

Peach: Celebrating Life in the Shadow of Death

https://www.amazon.com/Peach-Celebrating-Life-Shadow-Death/dp/198750142X/ref=sr_1_1?qid=1646425904&refinements=p_27%3AJenevieve+%28Peach%29+Woods&s=books&sr=1-1&text=Jenevieve+%28Peach%29+Woods

]]> full 47 false  

ENERGY IN ACTION - EPISODE 047

The Strength of a Mom

 

Tonie DeLorenze is impacted by mitochondrial disease herself and also has three children with mitochondrial disease.

 

EPISODE HIGHLIGHTS

 

What has your journey been like with mitochondrial disease?

I was an athlete in high school, but always had issues with breathing and lung capacity. As I got older, more symptoms developed, all related to my endocrine system. I had twins in 1995, had another child in 1997 and another in 2000. In 2000, I had a heart attack, had to have my thyroid removed, developed PCOS and a lot of other endocrine-related issues began surfacing. I discovered that I had mitochondrial disease through testing performed on my children, who also have mitochondrial disease.

 

What is your advice for parents who feel they need to advocate for their children and push for a diagnosis?

I believe you know your child better than anyone. Do your research, ask questions and push for answers. 

 

What's your advice for parents newly on the diagnosis journey?

Control your fear. It's normal for a parent or someone who doesn't feel right to be afraid of what it could be. I had no one to talk to or turn to for support, but if you have someone to support you, seek them out. If you don't, reach out to me. As difficult as it is, stay positive and stay strong. It doesn't help anyone if you're not in a headspace of positivity. Lastly, never ever compare your child to another child. As a caregiver, find a way to carve time out for yourself and squeeze in selfcare.

 

From a mother's perspective, what did you need from those around you that you didn't get when you were navigating your journey with young kids?

Just be there to talk and offer a sense of normalcy. I was so tired and would have loved to have time to sleep and shower. I went through a dark time and it didn't have to be that way. It was bad enough that my kids were sick, but with a little support from people who were in my life before my kids were born, it would have been life changing for me.



RESOURCES & LINKS MENTIONED

Peach: An Exceptional Teen's Inspiring Journey for Universal Acceptance

https://www.amazon.com/Peach-Exceptional-Inspiring-Universal-Acceptance/dp/1539367339/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1646425842&sr=1-1

Peach: Celebrating Life in the Shadow of Death

https://www.amazon.com/Peach-Celebrating-Life-Shadow-Death/dp/198750142X/ref=sr_1_1?qid=1646425904&refinements=p_27%3AJenevieve+%28Peach%29+Woods&s=books&sr=1-1&text=Jenevieve+%28Peach%29+Woods

Positive Peach Packages

https://www.mitoaction.org/programs-support/support/positive-peach-packages/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:42:06 <![CDATA[Parents as Rare - Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University]]> Wed, 16 Feb 2022 17:30:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/parents-as-rare-family-coping-communication-mental-health-resources-dr-jennifer-young-postdoctoral-scholar-biomedical-ethics-stanford-university https://energy-in-action-by-mitoaction.castos.com/episodes/parents-as-rare-family-coping-communication-mental-health-resources-dr-jennifer-young-postdoctoral-scholar-biomedical-ethics-stanford-university  

PARENTS AS RARE - EPISODE 046

Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University

 

Dr. Jennifer Young is a trained marriage and family therapist who has focused her research on families with rare genetic conditions. Her goal is to improve family coping, communication, and access to mental health resources for the rare disease community, especially for the under-served. 

 

EPISODE HIGHLIGHTS

 

Can you introduce yourself?

I'm a marriage and family therapist by training and I have a PhD in family science, the study of family relationships. Most of my work has been around families with rare genetic conditions. I've been working closely with the undiagnosed diseases network at Stanford and doing in-depth interviews with families. My goal is to build awareness about the challenges for individuals and families in their relationships and to build awareness for mental health providers so they can meet their unique needs. 

 

How does your work impact your mental health?

One of the first lessons I learned is how to be present for clients, but to put that outcome in a box and move on. It's not always easy. Having a supervisor and solid group of colleagues to debrief and get feedback is helpful. 

 

How does someone find resources if they need support?

A primary care provider will likely know someone they can refer. Insurance companies will also have covered providers available online or by calling. Psychology Today has has a therapist locator tool to perform a detailed search and refine results. What's most important is feeling connected to your therapist, so ask for a referral to another therapist if you need to.

 

For families going through genetic testing for various health conditions, how do you help people cope with a VUS outcome or lack of answers?

It's important to focus on what someone has control over, like managing symptoms and ensuring they're getting quality care for symptoms that can be managed. A lot of times, the benefit of whole genome sequencing or whole exome sequencing is more psychological or social, not clinical. 

 

What advice do you have for parents going through diagnosis themselves?

The fear and emotion of parents often contributes to the weight of conversations with children. Kids are very resilient, but it's important to manage emotions so children don't feel the need to regulate a parent's emotions. Be in-touch with yourself and ensure you have the resources you need so you can have an open line of communication with your children.



CONNECT WITH JENNI

Twitter

https://twitter.com/JenniYoungPhD

Email

youngjl@stanford.edu

 

RESOURCES MENTIONED

Psychology Today Therapist Finder

https://www.psychologytoday.com/us

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

]]> full 46 false  

PARENTS AS RARE - EPISODE 046

Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University

 

Dr. Jennifer Young is a trained marriage and family therapist who has focused her research on families with rare genetic conditions. Her goal is to improve family coping, communication, and access to mental health resources for the rare disease community, especially for the under-served. 

 

EPISODE HIGHLIGHTS

 

Can you introduce yourself?

I'm a marriage and family therapist by training and I have a PhD in family science, the study of family relationships. Most of my work has been around families with rare genetic conditions. I've been working closely with the undiagnosed diseases network at Stanford and doing in-depth interviews with families. My goal is to build awareness about the challenges for individuals and families in their relationships and to build awareness for mental health providers so they can meet their unique needs. 

 

How does your work impact your mental health?

One of the first lessons I learned is how to be present for clients, but to put that outcome in a box and move on. It's not always easy. Having a supervisor and solid group of colleagues to debrief and get feedback is helpful. 

 

How does someone find resources if they need support?

A primary care provider will likely know someone they can refer. Insurance companies will also have covered providers available online or by calling. Psychology Today has has a therapist locator tool to perform a detailed search and refine results. What's most important is feeling connected to your therapist, so ask for a referral to another therapist if you need to.

 

For families going through genetic testing for various health conditions, how do you help people cope with a VUS outcome or lack of answers?

It's important to focus on what someone has control over, like managing symptoms and ensuring they're getting quality care for symptoms that can be managed. A lot of times, the benefit of whole genome sequencing or whole exome sequencing is more psychological or social, not clinical. 

 

What advice do you have for parents going through diagnosis themselves?

The fear and emotion of parents often contributes to the weight of conversations with children. Kids are very resilient, but it's important to manage emotions so children don't feel the need to regulate a parent's emotions. Be in-touch with yourself and ensure you have the resources you need so you can have an open line of communication with your children.



CONNECT WITH JENNI

Twitter

https://twitter.com/JenniYoungPhD

Email

youngjl@stanford.edu

 

RESOURCES MENTIONED

Psychology Today Therapist Finder

https://www.psychologytoday.com/us

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:43:49 <![CDATA[Live Life, Dream Big, Be Positive]]> Wed, 09 Feb 2022 18:30:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/live-life-dream-big-be-positive https://energy-in-action-by-mitoaction.castos.com/episodes/live-life-dream-big-be-positive  

ENERGY IN ACTION - EPISODE 045

Live Life, Dream Big, Be Positive

 

Stacy and Ari Goldberg share the story of their Mito Warrior. Rina lived an authentic be-positive life. She faced multiple medical challenges with resiliency and left a legacy of an award-winning film, The Magic Bracelet.

 

EPISODE HIGHLIGHTS

 

Can you tell us about Rina's mito journey?

Rina had medical difficulties from the time she was born. She experienced fevers, overheating, developmental delays, low muscle tone, difficulty walking and other symptoms. She was diagnosed with mitochondrial disease in 2004. Shortly after, she suffered a metabolic stroke and she was given a nasogastric (NG) tube and feeding tube. Rina's blood pressure and heart rate required monitoring and caused her to be hospitalized several times. A jejunostomy tube, also called a J-tube, was placed to help her get constant fluids. Just after that, she had a port inserted to have IV fluids running 24/7 so she could live at home. In 2009, Rina suddenly couldn't walk after an infection in her legs. Despite treatment, Rina never walked independently again. We began a downhill journey of serious crises. A few months later, Rina's night nurse wasn't able to control her breathing and she was admitted to the hospital. Her treatment included being on a ventilator, which later required a trach tube and constant use of the ventilator to breathe. 

 

What is your advice for new parents on a diagnosis journey who want to advocate for their child?

Every doctor is not an expert on every medical issue, so if you feel like a doctor isn't acknowledging a concern, find another physician. When finding a doctor and building your medical team, follow your gut and look for those who are open to listening and who are parent and child driven. 

 

Can you share about The Magic Bracelet?

Rina was very creative, and with the help of a family friend, she took an interest in coming up with a film concept to bring attention to mitochondrial disease. She wanted to spread awareness through a fun and witty film. Medical truth and authenticity was important to convey in the film, but despite mitochondrial disease not having a cure, the film doesn't have a sad ending. Rina went on hospice in September 2010 and she asked me to promise to take care of her film and get it to Hollywood. The Make a Film Foundation took Rina's film on as a project and in December 2012, The Magic Bracelet, was produced in Hollywood.



RESOURCES & LINKS MENTIONED

Rina's Magic Bracelet Movie Facebook Page

https://www.facebook.com/magicbraceletevent/

The Magic Bracelet Website

https://www.rinasmovie.com/

Make A Film Foundation

www.makeafilmfoundation.org

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

]]> full 45 false  

ENERGY IN ACTION - EPISODE 045

Live Life, Dream Big, Be Positive

 

Stacy and Ari Goldberg share the story of their Mito Warrior. Rina lived an authentic be-positive life. She faced multiple medical challenges with resiliency and left a legacy of an award-winning film, The Magic Bracelet.

 

EPISODE HIGHLIGHTS

 

Can you tell us about Rina's mito journey?

Rina had medical difficulties from the time she was born. She experienced fevers, overheating, developmental delays, low muscle tone, difficulty walking and other symptoms. She was diagnosed with mitochondrial disease in 2004. Shortly after, she suffered a metabolic stroke and she was given a nasogastric (NG) tube and feeding tube. Rina's blood pressure and heart rate required monitoring and caused her to be hospitalized several times. A jejunostomy tube, also called a J-tube, was placed to help her get constant fluids. Just after that, she had a port inserted to have IV fluids running 24/7 so she could live at home. In 2009, Rina suddenly couldn't walk after an infection in her legs. Despite treatment, Rina never walked independently again. We began a downhill journey of serious crises. A few months later, Rina's night nurse wasn't able to control her breathing and she was admitted to the hospital. Her treatment included being on a ventilator, which later required a trach tube and constant use of the ventilator to breathe. 

 

What is your advice for new parents on a diagnosis journey who want to advocate for their child?

Every doctor is not an expert on every medical issue, so if you feel like a doctor isn't acknowledging a concern, find another physician. When finding a doctor and building your medical team, follow your gut and look for those who are open to listening and who are parent and child driven. 

 

Can you share about The Magic Bracelet?

Rina was very creative, and with the help of a family friend, she took an interest in coming up with a film concept to bring attention to mitochondrial disease. She wanted to spread awareness through a fun and witty film. Medical truth and authenticity was important to convey in the film, but despite mitochondrial disease not having a cure, the film doesn't have a sad ending. Rina went on hospice in September 2010 and she asked me to promise to take care of her film and get it to Hollywood. The Make a Film Foundation took Rina's film on as a project and in December 2012, The Magic Bracelet, was produced in Hollywood.



RESOURCES & LINKS MENTIONED

Rina's Magic Bracelet Movie Facebook Page

https://www.facebook.com/magicbraceletevent/

The Magic Bracelet Website

https://www.rinasmovie.com/

Make A Film Foundation

www.makeafilmfoundation.org

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:59:07 <![CDATA[Removing Barriers in Ultra-Rare]]> Wed, 02 Feb 2022 21:10:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/removing-barriers-in-ultra-rare https://energy-in-action-by-mitoaction.castos.com/episodes/removing-barriers-in-ultra-rare  

ENERGY IN ACTION - EPISODE 044

Removing Barriers in Ultra-Rare

 

Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes.

 

EPISODE HIGHLIGHTS

 

Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community?

My 6 year old daughter Daphne was diagnosed at a year old after a six month diagnosis journey. My daughter's disease has two names- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) and Combined oxidative phosphorylation deficiency 12 (COXPD12). Daphne is primarily affected by speech delay, hypotonia, and global delays in learning and performing everyday tasks. 

 

Ashley, can you introduce yourself and tell us how you're connected to the mitochondrial disease community?

My daughter Aubrie is three and a half years old and she has a disease called  leukoencephalopathy with ovarian failure (LKENP) from the AARS2 gene. She was diagnosed at 2 years old. 

 

Can you share about Cure ARS?

It started as discussions around how we could raise money for research and how we could help our kids and other families. In order to fund a research project, we started the nonprofit. Our mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure.

 

Can you share details about the symposium coming up in February?

The Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium is a one day event on February 10, 2022 and will feature world-renowned doctors and researchers. The goal of the symposium is to bring worldwide collaboration between researchers and clinicians to build a stronger working relationship and put patient faces to the data and the impact they're making. 

 

Does Cure ARS have a patient registry?

We have a registry through CoRDS at Sanford Health, which will be launching soon.



RESOURCES & LINKS MENTIONED

Daphne's Lamp

https://www.daphneslamp.com/

Cure ARS

https://www.curears.org/

Cure ARS on Facebook

https://www.facebook.com/curears

Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium

https://www.curears.org/symposium

ARS Gene Community 

https://www.facebook.com/groups/ars.gene.community

Cure ARS Shop

]]> full 44 false  

ENERGY IN ACTION - EPISODE 044

Removing Barriers in Ultra-Rare

 

Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes.

 

EPISODE HIGHLIGHTS

 

Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community?

My 6 year old daughter Daphne was diagnosed at a year old after a six month diagnosis journey. My daughter's disease has two names- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) and Combined oxidative phosphorylation deficiency 12 (COXPD12). Daphne is primarily affected by speech delay, hypotonia, and global delays in learning and performing everyday tasks. 

 

Ashley, can you introduce yourself and tell us how you're connected to the mitochondrial disease community?

My daughter Aubrie is three and a half years old and she has a disease called  leukoencephalopathy with ovarian failure (LKENP) from the AARS2 gene. She was diagnosed at 2 years old. 

 

Can you share about Cure ARS?

It started as discussions around how we could raise money for research and how we could help our kids and other families. In order to fund a research project, we started the nonprofit. Our mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure.

 

Can you share details about the symposium coming up in February?

The Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium is a one day event on February 10, 2022 and will feature world-renowned doctors and researchers. The goal of the symposium is to bring worldwide collaboration between researchers and clinicians to build a stronger working relationship and put patient faces to the data and the impact they're making. 

 

Does Cure ARS have a patient registry?

We have a registry through CoRDS at Sanford Health, which will be launching soon.



RESOURCES & LINKS MENTIONED

Daphne's Lamp

https://www.daphneslamp.com/

Cure ARS

https://www.curears.org/

Cure ARS on Facebook

https://www.facebook.com/curears

Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium

https://www.curears.org/symposium

ARS Gene Community 

https://www.facebook.com/groups/ars.gene.community

Cure ARS Shop

https://www.curears.org/shop

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:25:00 <![CDATA[Parents as Rare - Cowden Syndrome and Male Mental Health - David Ross]]> Wed, 19 Jan 2022 16:35:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/parents-as-rare-cowden-syndrome-and-male-mental-health-david-ross https://energy-in-action-by-mitoaction.castos.com/episodes/parents-as-rare-cowden-syndrome-and-male-mental-health-david-ross  

PARENTS AS RARE - EPISODE 043

Cowden Syndrome & Male Mental Health - David Ross

 

David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome. 

 

EPISODE HIGHLIGHTS

 

How did finding out about your disease shape your relationship with your daughter?

I felt I wasn't supportive enough to my mother when she was facing Cowden Syndrome. When I was diagnosed with the same condition after she passed, while I couldn't go back and change how I supported my mother, I could support others. Looking back, I focused a lot on advocacy and my mother’s legacy. I've shifted my focus in the last year to my daughter and myself. My daughter needs more support and we need more time for us, and our relationship has become better because I've recognized and acted on that.

 

When did men's mental health become a focus of your advocacy?

Someone brought to my attention that a lot of men in the rare disease community didn't seek support or speak out about what they were going through. As I searched for my voice in the rare disease community, I decided to set up international group meetings for men who need a platform to share what they're going through and get mental health support. 

 

What was your experience opening up about your feelings, thoughts and struggles for the first time?

After my mother passed away and in wanting to make a difference for myself and others, I felt strongly that I needed to speak out about what I was going through and how I was impacted. It has taken time to learn how to speak up, what to say and what not to say. While it was scary, connecting with others in the community continues to help me and inspires me to get my story out. 

 

What is your advice for other parents with a rare disease?

Feel the feelings. There are so many feelings and emotions that come with chronic illness and rare disease, and you need to give yourself permission to feel all of them when they arise. Sometimes writing down what you're going through can help to express your feelings. 



RESOURCES MENTIONED

ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

https://effieparks.com/podcast/episode-114-noah-siedman

Rare Revolution Magazine, Advice From Rare Dads: Top Tips for Rare Parents

https://rare-revolution-wp-images.s3.eu-west-1.amazonaws.com/wp-content/uploads/2021/10/19100033/Top-Tips-from-RARE-Dads-for-RARE-Parents-Final.pdf

Rare Disease Male Support Group

https://www.facebook.com/groups/991558431661517

]]> full 43 false  

PARENTS AS RARE - EPISODE 043

Cowden Syndrome & Male Mental Health - David Ross

 

David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome. 

 

EPISODE HIGHLIGHTS

 

How did finding out about your disease shape your relationship with your daughter?

I felt I wasn't supportive enough to my mother when she was facing Cowden Syndrome. When I was diagnosed with the same condition after she passed, while I couldn't go back and change how I supported my mother, I could support others. Looking back, I focused a lot on advocacy and my mother’s legacy. I've shifted my focus in the last year to my daughter and myself. My daughter needs more support and we need more time for us, and our relationship has become better because I've recognized and acted on that.

 

When did men's mental health become a focus of your advocacy?

Someone brought to my attention that a lot of men in the rare disease community didn't seek support or speak out about what they were going through. As I searched for my voice in the rare disease community, I decided to set up international group meetings for men who need a platform to share what they're going through and get mental health support. 

 

What was your experience opening up about your feelings, thoughts and struggles for the first time?

After my mother passed away and in wanting to make a difference for myself and others, I felt strongly that I needed to speak out about what I was going through and how I was impacted. It has taken time to learn how to speak up, what to say and what not to say. While it was scary, connecting with others in the community continues to help me and inspires me to get my story out. 

 

What is your advice for other parents with a rare disease?

Feel the feelings. There are so many feelings and emotions that come with chronic illness and rare disease, and you need to give yourself permission to feel all of them when they arise. Sometimes writing down what you're going through can help to express your feelings. 



RESOURCES MENTIONED

ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

https://effieparks.com/podcast/episode-114-noah-siedman

Rare Revolution Magazine, Advice From Rare Dads: Top Tips for Rare Parents

https://rare-revolution-wp-images.s3.eu-west-1.amazonaws.com/wp-content/uploads/2021/10/19100033/Top-Tips-from-RARE-Dads-for-RARE-Parents-Final.pdf

Rare Disease Male Support Group

https://www.facebook.com/groups/991558431661517

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:43:00 <![CDATA[Empowering Parents Nationwide]]> Wed, 12 Jan 2022 19:24:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/empowering-parents-nationwide https://energy-in-action-by-mitoaction.castos.com/episodes/empowering-parents-nationwide  

ENERGY IN ACTION - EPISODE 042

Empowering Parents Nationwide

 

Marsha Quinn is the parent of two children who have Autism. As the Co Executive Director for Parent to Parent USA, she joins us to share the organization's mission and the resources they provide to parents of children with disabilities.

 

EPISODE HIGHLIGHTS

 

Can you tell us about Parent to Parent USA?

Parent to Parent USA was started about 50 years ago with a group of moms in Nebraska who wanted to provide parents of children with disabilities with peer to peer emotional support. Parent to Parent USA now has 36 statewide alliance members across the US and we're growing to all 50 states and territories. The mission of Parent to Parent USA is to ensure that all families have access to peer to peer emotional support. A family of an individual with any disability or special healthcare need can contact us for help and we will match them with a trained support parent. It's a free intervention that we find helps people get through life and get through their child's disability or diagnosis. 

 

What does volunteer training consist of?

It's all research and evidence-based training. We train on self care, cultural competency or humility, active listening, grief and many other elements. Each of our alliance members have their own training. Part of the process is ensuring each person is put into a database and categorized so they can be matched based on varying parent needs or diseases. 

 

How does Parent to Parent USA expand and develop into additional areas?

We've created strong and robust committees between the board and volunteers from the network, part of which is a membership committee. One of the membership committee's goals is to grow to all 50 states, to better engage with our existing members, and offer more value for memberships through training, engagement, and networking opportunities. As a committee, we're seeking other organizations in states we're not in that we can partner with, then we reach out to see if they're interested in adopting our program.



CONNECT WITH PARENT TO PARENT USA

Website

https://www.p2pusa.org/

Email

memberinfo@p2pusa.org

Facebook

https://www.facebook.com/p2pusa

Instagram

https://www.instagram.com/p2pusa/

 

RESOURCES MENTIONED

Alliance Member Map

https://www.p2pusa.org/parents/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

<...

]]> full 42 false  

ENERGY IN ACTION - EPISODE 042

Empowering Parents Nationwide

 

Marsha Quinn is the parent of two children who have Autism. As the Co Executive Director for Parent to Parent USA, she joins us to share the organization's mission and the resources they provide to parents of children with disabilities.

 

EPISODE HIGHLIGHTS

 

Can you tell us about Parent to Parent USA?

Parent to Parent USA was started about 50 years ago with a group of moms in Nebraska who wanted to provide parents of children with disabilities with peer to peer emotional support. Parent to Parent USA now has 36 statewide alliance members across the US and we're growing to all 50 states and territories. The mission of Parent to Parent USA is to ensure that all families have access to peer to peer emotional support. A family of an individual with any disability or special healthcare need can contact us for help and we will match them with a trained support parent. It's a free intervention that we find helps people get through life and get through their child's disability or diagnosis. 

 

What does volunteer training consist of?

It's all research and evidence-based training. We train on self care, cultural competency or humility, active listening, grief and many other elements. Each of our alliance members have their own training. Part of the process is ensuring each person is put into a database and categorized so they can be matched based on varying parent needs or diseases. 

 

How does Parent to Parent USA expand and develop into additional areas?

We've created strong and robust committees between the board and volunteers from the network, part of which is a membership committee. One of the membership committee's goals is to grow to all 50 states, to better engage with our existing members, and offer more value for memberships through training, engagement, and networking opportunities. As a committee, we're seeking other organizations in states we're not in that we can partner with, then we reach out to see if they're interested in adopting our program.



CONNECT WITH PARENT TO PARENT USA

Website

https://www.p2pusa.org/

Email

memberinfo@p2pusa.org

Facebook

https://www.facebook.com/p2pusa

Instagram

https://www.instagram.com/p2pusa/

 

RESOURCES MENTIONED

Alliance Member Map

https://www.p2pusa.org/parents/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction









]]> 00:29:27 <![CDATA[EveryLife Foundation Newborn Screening]]> Wed, 05 Jan 2022 16:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/everylife-foundation-newborn-screening https://energy-in-action-by-mitoaction.castos.com/episodes/everylife-foundation-newborn-screening  

ENERGY IN ACTION - EPISODE 041

EveryLife Foundation Newborn Screening

 

The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn screening process, a full panel containing 35 disease screens.

 

EPISODE HIGHLIGHTS

 

What is newborn screening?

Newborn screening detects conditions that, if left untreated, can cause disabilities, developmental delays, serious illness or even death. If diagnosed early, many of these disorders can be managed successfully. Newborns are screened for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to testing, newborn screening programs consist of educational and resource materials for parents and training for healthcare professionals.

 

How can the community get involved?

Anyone can get involved by reaching out and contacting their senators about Senate Bill 350 and the importance of this legislation for the community. Let them know that you support the Newborn Screening Saves Lives Reauthorization Act as it is currently written. 

 

Why don't all 50 states conduct the same newborn screening?

The disorders that newborns are screened for is set at the state level and each state implements their screening program differently. We're working to pass RUSP Alignment Legislation so that as disorders are added to the RUSP, states will automatically add these disorders to their newborn screening panels. The newborn screening legislation aims to align states, implement a timeline for screening to begin, and ensure resources are available for states to fund newborn screening panels and any disorders added to it in the future. 

 

How is a new diagnosis added to the Recommended Uniform Screening Panel (RUSP)? 

This is done through the Federal Advisory Committee, Heritable Disorders in Newborns and Children, which is under the Health Resources and Services Administration (HERSA). The advisory committee looks at properly identifying newborns, properly treating newborns and the overall benefit. 

 

How many newborns are identified annually through newborn screening as having one of the 35 diseases?

The current estimation is approximately 1 in 300 newborns, though some states are not testing for all 35 diseases on the federal RUSP.



CONNECT WITH EVERYLIFE

Website

https://everylifefoundation.org/

EveryLife Foundation for Rare Diseases on Facebook

https://www.facebook.com/EveryLifeOrg/

EveryLife Foundation @EveryLifeOrg on Twitter

https://twitter.com/EveryLifeOrg

EveryLife Foundation on Instagram

]]> full 41 false  

ENERGY IN ACTION - EPISODE 041

EveryLife Foundation Newborn Screening

 

The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn screening process, a full panel containing 35 disease screens.

 

EPISODE HIGHLIGHTS

 

What is newborn screening?

Newborn screening detects conditions that, if left untreated, can cause disabilities, developmental delays, serious illness or even death. If diagnosed early, many of these disorders can be managed successfully. Newborns are screened for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to testing, newborn screening programs consist of educational and resource materials for parents and training for healthcare professionals.

 

How can the community get involved?

Anyone can get involved by reaching out and contacting their senators about Senate Bill 350 and the importance of this legislation for the community. Let them know that you support the Newborn Screening Saves Lives Reauthorization Act as it is currently written. 

 

Why don't all 50 states conduct the same newborn screening?

The disorders that newborns are screened for is set at the state level and each state implements their screening program differently. We're working to pass RUSP Alignment Legislation so that as disorders are added to the RUSP, states will automatically add these disorders to their newborn screening panels. The newborn screening legislation aims to align states, implement a timeline for screening to begin, and ensure resources are available for states to fund newborn screening panels and any disorders added to it in the future. 

 

How is a new diagnosis added to the Recommended Uniform Screening Panel (RUSP)? 

This is done through the Federal Advisory Committee, Heritable Disorders in Newborns and Children, which is under the Health Resources and Services Administration (HERSA). The advisory committee looks at properly identifying newborns, properly treating newborns and the overall benefit. 

 

How many newborns are identified annually through newborn screening as having one of the 35 diseases?

The current estimation is approximately 1 in 300 newborns, though some states are not testing for all 35 diseases on the federal RUSP.



CONNECT WITH EVERYLIFE

Website

https://everylifefoundation.org/

EveryLife Foundation for Rare Diseases on Facebook

https://www.facebook.com/EveryLifeOrg/

EveryLife Foundation @EveryLifeOrg on Twitter

https://twitter.com/EveryLifeOrg

EveryLife Foundation on Instagram

https://www.instagram.com/EveryLifeOrg/

EveryLife Foundation for Rare Diseases on YouTube

https://www.youtube.com/channel/UCL155EYAyLhYiPe-a1PbXTw



RESOURCES MENTIONED

Newborn Screening Action Centerhttps://everylifefoundation.org/newborn-screening-take-action/

Support Legislation

https://everylifefoundation.org/newborn-screening-take-action/support-legislation/

RUSP Alignment Legislation One Pager

https://everylifefoundation.org/wp-content/uploads/2021/12/Newborn-Screening-One-pager2.pdf



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:23:59 <![CDATA[Silver Linings with Sarah Kate]]> Wed, 22 Dec 2021 16:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/silver-linings-with-sarah-kate https://energy-in-action-by-mitoaction.castos.com/episodes/silver-linings-with-sarah-kate  

ENERGY IN ACTION - EPISODE 040

Silver Linings with Sarah Kate

 

Sarah Kate Frey is a mitochondrial disease patient who is always looking on the bright side, seeking silver linings in the darkest experiences. She is the author of Alice Eloise’s Silver Linings: The Story of a Silly Service Dog and is in the process of writing a second book about her friend and service dog, a doodle named Alice Eloise.

 

EPISODE HIGHLIGHTS

 

How are you connected to the mito world?

Like a lot of patients, my path to a mitochondrial disease diagnosis was not a straight line. At about 12 years old, I came home from horseback riding camp really sick with a high fever and a staph infection in my throat that had me sick for months. I landed in the ER numerous times in a year for extreme dehydration and high inflammation markers. The following year in dance class, I sprained my ankle. Within the week, I received a Reflex Sympathetic Dystrophy (RSD) and Complex Regional Pain Syndrome (CRPS) diagnosis. Not long after, I had extreme GI symptoms and saw a gastric motility doctor who did gastric emptying studies and further testing. I was diagnosed with Gastroparesis and then later with Hemophagocytic lymphohistiocytosis (HLH). What led to a mitochondrial disease diagnosis was tying everything together. 

 

Can you tell us about Alice Eloise and how you came to author children's books?

I love dogs and wondered how a service dog could help me. My sweet doodle, Alice Eloise, and I are a self-trained service dog team. She's my silver lining through being sick, so silver linings has become a mission for me. I decided to write a book about a girl and her dog, about silver linings and looking on the bright side. When Alice Eloise came along and stole my heart, it was time to tell our story. And that's what we're doing. The first book is written through the puppy eyes of Alice Eloise and her perspective of becoming a service dog. The biggest lessons from the story are no matter what you're going through, look for silver linings, never give up and seek the beauty in the world. 

 

What will the second book be about?

It's about a trip to the zoo with Alice Eloise, which started out as a scene in the first book. We ended the first book after her service dog test, so I decided to add to the story with another book. The premise of this book is about being someone else's silver lining, and knowing that some of the best silver linings in life are the people around us and our interactions with one another.

 

RESOURCES MENTIONED

Alice Eloise’s Silver Linings: The Story of a Silly Service Dog

https://sarahkatessilverlinings.com/once-upon-a-silver-lining-store/

Sarah Kate's Silver Linings Blog

https://sarahkatessilverlinings.com/blog/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

]]> full 40 false  

ENERGY IN ACTION - EPISODE 040

Silver Linings with Sarah Kate

 

Sarah Kate Frey is a mitochondrial disease patient who is always looking on the bright side, seeking silver linings in the darkest experiences. She is the author of Alice Eloise’s Silver Linings: The Story of a Silly Service Dog and is in the process of writing a second book about her friend and service dog, a doodle named Alice Eloise.

 

EPISODE HIGHLIGHTS

 

How are you connected to the mito world?

Like a lot of patients, my path to a mitochondrial disease diagnosis was not a straight line. At about 12 years old, I came home from horseback riding camp really sick with a high fever and a staph infection in my throat that had me sick for months. I landed in the ER numerous times in a year for extreme dehydration and high inflammation markers. The following year in dance class, I sprained my ankle. Within the week, I received a Reflex Sympathetic Dystrophy (RSD) and Complex Regional Pain Syndrome (CRPS) diagnosis. Not long after, I had extreme GI symptoms and saw a gastric motility doctor who did gastric emptying studies and further testing. I was diagnosed with Gastroparesis and then later with Hemophagocytic lymphohistiocytosis (HLH). What led to a mitochondrial disease diagnosis was tying everything together. 

 

Can you tell us about Alice Eloise and how you came to author children's books?

I love dogs and wondered how a service dog could help me. My sweet doodle, Alice Eloise, and I are a self-trained service dog team. She's my silver lining through being sick, so silver linings has become a mission for me. I decided to write a book about a girl and her dog, about silver linings and looking on the bright side. When Alice Eloise came along and stole my heart, it was time to tell our story. And that's what we're doing. The first book is written through the puppy eyes of Alice Eloise and her perspective of becoming a service dog. The biggest lessons from the story are no matter what you're going through, look for silver linings, never give up and seek the beauty in the world. 

 

What will the second book be about?

It's about a trip to the zoo with Alice Eloise, which started out as a scene in the first book. We ended the first book after her service dog test, so I decided to add to the story with another book. The premise of this book is about being someone else's silver lining, and knowing that some of the best silver linings in life are the people around us and our interactions with one another.

 

RESOURCES MENTIONED

Alice Eloise’s Silver Linings: The Story of a Silly Service Dog

https://sarahkatessilverlinings.com/once-upon-a-silver-lining-store/

Sarah Kate's Silver Linings Blog

https://sarahkatessilverlinings.com/blog/



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:28:57 <![CDATA[Chronically Simple and Simply Unbreakable - Kristy Dickinson]]> Wed, 15 Dec 2021 17:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/chronically-simple-and-simply-unbreakable-kristy-dickinson https://energy-in-action-by-mitoaction.castos.com/episodes/chronically-simple-and-simply-unbreakable-kristy-dickinson  

PARENTS AS RARE - EPISODE 039

Chronically Simple & Simply Unbreakable - Kristy Dickinson

 

Kristy Dickinson is a wife and mother of three, navigating life with multiple rare diseases. She's the founder of Chronically Simple, a digital health app that empowers patients and allows them to take control over their healthcare. She writes a blog and also co-hosts a podcast called Simply Unbreakable.

 

EPISODE HIGHLIGHTS

 

Can you share a bit about yourself?

I am a rare disease patient with Ehlers-Danlos Syndrome (EDS), a genetic connective tissue disorder. I also have comorbidities that accompany EDS including Mast Cell Activation Syndrome (MCAS), Medullary Sponge Kidney (MSK), Ankylosing spondylitis (AS), and an esophageal disorder that is still being diagnosed. I have been married to my husband Simon for over 20 years and I'm a mother to three children who are 9, 12 and 14 years old.

 

What was your diagnosis journey like as it relates to your family?

My health deteriorated with each pregnancy. When I was going through it, the doctors didn't know what was wrong. When I was struggling without a diagnosis and then after I was first diagnosed, I had to adjust the narrative in my head around my hopes and dreams, what I thought my family would be like, how I would parent and show up as a wife. I went through a period of mourning and struggled with it.

 

How are you using your own childhood experience to support your kids through their experience?

My mom was an incredibly strong and stubborn woman and my dad often shares that we are very similar, which I take as a compliment. I think you have to be stubborn to live with chronic illness every day. My parents worked really hard to give my sister and I as normal a childhood as possible. I never wanted my kids to have fear of my prognosis or feel like their time with me is limited. So I fight, I work every day to be present with them and keep my focus and priorities where they should be.

 

How do you help your kids cope?

I'm very honest with them. I struggle to know how much information I should give them and how to have those conversations because I don't want them to worry. We have very honest conversations about how they feel. They also each have a therapist they can talk to as they want.

 

CONNECT WITH KRISTY

Twitter @simplykristyd

https://twitter.com/simplykristyd

Instagram @chronicallysimple

https://www.instagram.com/chronically_simple

Facebook @chronicallysimplelife

https://www.facebook.com/chronicallysimplelife/

 

RESOURCES MENTIONED

Chronically Simple Blog

https://www.chronicallysimple.com/blog

Chronically Simple Website

]]> full 39 false  

PARENTS AS RARE - EPISODE 039

Chronically Simple & Simply Unbreakable - Kristy Dickinson

 

Kristy Dickinson is a wife and mother of three, navigating life with multiple rare diseases. She's the founder of Chronically Simple, a digital health app that empowers patients and allows them to take control over their healthcare. She writes a blog and also co-hosts a podcast called Simply Unbreakable.

 

EPISODE HIGHLIGHTS

 

Can you share a bit about yourself?

I am a rare disease patient with Ehlers-Danlos Syndrome (EDS), a genetic connective tissue disorder. I also have comorbidities that accompany EDS including Mast Cell Activation Syndrome (MCAS), Medullary Sponge Kidney (MSK), Ankylosing spondylitis (AS), and an esophageal disorder that is still being diagnosed. I have been married to my husband Simon for over 20 years and I'm a mother to three children who are 9, 12 and 14 years old.

 

What was your diagnosis journey like as it relates to your family?

My health deteriorated with each pregnancy. When I was going through it, the doctors didn't know what was wrong. When I was struggling without a diagnosis and then after I was first diagnosed, I had to adjust the narrative in my head around my hopes and dreams, what I thought my family would be like, how I would parent and show up as a wife. I went through a period of mourning and struggled with it.

 

How are you using your own childhood experience to support your kids through their experience?

My mom was an incredibly strong and stubborn woman and my dad often shares that we are very similar, which I take as a compliment. I think you have to be stubborn to live with chronic illness every day. My parents worked really hard to give my sister and I as normal a childhood as possible. I never wanted my kids to have fear of my prognosis or feel like their time with me is limited. So I fight, I work every day to be present with them and keep my focus and priorities where they should be.

 

How do you help your kids cope?

I'm very honest with them. I struggle to know how much information I should give them and how to have those conversations because I don't want them to worry. We have very honest conversations about how they feel. They also each have a therapist they can talk to as they want.

 

CONNECT WITH KRISTY

Twitter @simplykristyd

https://twitter.com/simplykristyd

Instagram @chronicallysimple

https://www.instagram.com/chronically_simple

Facebook @chronicallysimplelife

https://www.facebook.com/chronicallysimplelife/

 

RESOURCES MENTIONED

Chronically Simple Blog

https://www.chronicallysimple.com/blog

Chronically Simple Website

https://www.chronicallysimple.com/

Simply Unbreakable Podcast

https://www.chronicallysimple.com/podcast

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction




]]> 00:50:25 <![CDATA[Patient Led Trials]]> Wed, 08 Dec 2021 16:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/patient-led-trials https://energy-in-action-by-mitoaction.castos.com/episodes/patient-led-trials  

ENERGY IN ACTION - EPISODE 038

Patient Led Trials

 

Steve Smith is a rare disease advocate, father, and a fierce fighter for rare disease patients.

 

EPISODE HIGHLIGHTS

 

How did you become a rare disease advocate?

My advocacy started when my three year old was diagnosed with a rare disorder in 1990. My focus was on our family, but I also began looking to see what can be done medically and I was also pretty quickly introduced to the world of clinical research. I attended a conference where a doctor presented a breakthrough in genetic medicine. About ten years later, there was a clinical trial for a disease which is biochemically related to my son's disease. Through a decade of advocating, I realized all diseases are interrelated and of the regulatory hurdles to rare disease drug development.

 

What can families do to advocate for themselves and for their children?

Time is definitely of the essence when talking progressive diseases. There's a tug-of-war in the healthcare system, in the regulatory process and drug development, between safety and speed. As parents, we want speed. But things can be different than they were because we have modern science, advanced computing, more knowledge of the human genome, sophisticated collaboration. We can have safety and speed. Collaboration is important where families are increasingly part of the healthcare system. Newly diagnosed families should use their voice and collaborate.

 

How does the 21st Century Cures Act impact rare disease patients?

Rare disease advocates worked hard on the 21st Century Cures Act and it was a turning point in legislative change. What it did for rare disease drug development was allowed for an improvement of breakthrough therapy designation. It's based on progress, on what's really happening in the world. It also strengthens biomarker guidance, a way of having an interaction around a biomarker and proposed data before too many months pass.

 

Can you talk about newborn screening and how to support that effort?

Everybody can find details And you can do that on the EveryLife Foundation For Rare Disease website. They are one of the organizations for rare diseases that is advocating for newborn screening. When a baby is born, hospitals do a heel prick and check their blood for diseases, but what diseases are checked for is what's at issue. Newborns are not screened to see if they have many progressive diseases. To get a disease on the Recommended Uniform Screening Panel (RUSP) takes years. Then states decide whether they're going to test at their hospitals. EveryLife has a bootcamp for advocates available to anyone who wants to learn how to talk to their legislator about newborn screening.

 

RESOURCES MENTIONED

EveryLife Foundation

https://everylifefoundation.org/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

]]> full 38 false  

ENERGY IN ACTION - EPISODE 038

Patient Led Trials

 

Steve Smith is a rare disease advocate, father, and a fierce fighter for rare disease patients.

 

EPISODE HIGHLIGHTS

 

How did you become a rare disease advocate?

My advocacy started when my three year old was diagnosed with a rare disorder in 1990. My focus was on our family, but I also began looking to see what can be done medically and I was also pretty quickly introduced to the world of clinical research. I attended a conference where a doctor presented a breakthrough in genetic medicine. About ten years later, there was a clinical trial for a disease which is biochemically related to my son's disease. Through a decade of advocating, I realized all diseases are interrelated and of the regulatory hurdles to rare disease drug development.

 

What can families do to advocate for themselves and for their children?

Time is definitely of the essence when talking progressive diseases. There's a tug-of-war in the healthcare system, in the regulatory process and drug development, between safety and speed. As parents, we want speed. But things can be different than they were because we have modern science, advanced computing, more knowledge of the human genome, sophisticated collaboration. We can have safety and speed. Collaboration is important where families are increasingly part of the healthcare system. Newly diagnosed families should use their voice and collaborate.

 

How does the 21st Century Cures Act impact rare disease patients?

Rare disease advocates worked hard on the 21st Century Cures Act and it was a turning point in legislative change. What it did for rare disease drug development was allowed for an improvement of breakthrough therapy designation. It's based on progress, on what's really happening in the world. It also strengthens biomarker guidance, a way of having an interaction around a biomarker and proposed data before too many months pass.

 

Can you talk about newborn screening and how to support that effort?

Everybody can find details And you can do that on the EveryLife Foundation For Rare Disease website. They are one of the organizations for rare diseases that is advocating for newborn screening. When a baby is born, hospitals do a heel prick and check their blood for diseases, but what diseases are checked for is what's at issue. Newborns are not screened to see if they have many progressive diseases. To get a disease on the Recommended Uniform Screening Panel (RUSP) takes years. Then states decide whether they're going to test at their hospitals. EveryLife has a bootcamp for advocates available to anyone who wants to learn how to talk to their legislator about newborn screening.

 

RESOURCES MENTIONED

EveryLife Foundation

https://everylifefoundation.org/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:39:09 <![CDATA[The Patient Teacher Program]]> Wed, 01 Dec 2021 19:30:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/the-patient-teacher-program https://energy-in-action-by-mitoaction.castos.com/episodes/the-patient-teacher-program  

ENERGY IN ACTION - EPISODE 037

The Patient Teacher Program

 

Jake Athoe is a graduate of Boston University, where he earned a Bachelor of Arts in Biochemistry and Molecular Biology, with a minor in Public Health. During his time at BU, Jake’s interest in metabolism and genetics led him to a four-year research assignment in a lab focused on mutation’s in the energy production of carcinogenic cells. Jake’s graduate work to date has been at the Boston University Medical School, where he studied Genetic Counseling. This program included an intense two month internship working with the medical staff at Washington Children’s National Hospital on pediatric and metabolic disorders. Currently, Jake is advocating for patients with rare genetic metabolic disorders. 

 

EPISODE HIGHLIGHTS

 

Can you share details about the patient-teacher registry program and how people can get involved?

We hope to raise awareness for people that don't have that voice and we want to raise that voice for anyone that doesn't have it. People can get involved by going to our registry page on the VMP Genetics website. Patients, parents, and anyone can be involved. We hope to also involve practitioners, nurse practitioners, nurses, students, genetic counselors and doctors. 

 

What are some of the stories that you've been hearing from patients? 

It feels like a lot of patients have not heard their stories told by anyone. And they end up in the emergency rooms with nurses and physicians who don't have their stories told, and that's what we want to change. 

 

RESOURCES MENTIONED

VMP Genetics Website

https://www.vmpgenetics.com/

Patient Teacher Registry

https://www.vmpgenetics.com/edu-services/patient-teacher

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> false  

ENERGY IN ACTION - EPISODE 037

The Patient Teacher Program

 

Jake Athoe is a graduate of Boston University, where he earned a Bachelor of Arts in Biochemistry and Molecular Biology, with a minor in Public Health. During his time at BU, Jake’s interest in metabolism and genetics led him to a four-year research assignment in a lab focused on mutation’s in the energy production of carcinogenic cells. Jake’s graduate work to date has been at the Boston University Medical School, where he studied Genetic Counseling. This program included an intense two month internship working with the medical staff at Washington Children’s National Hospital on pediatric and metabolic disorders. Currently, Jake is advocating for patients with rare genetic metabolic disorders. 

 

EPISODE HIGHLIGHTS

 

Can you share details about the patient-teacher registry program and how people can get involved?

We hope to raise awareness for people that don't have that voice and we want to raise that voice for anyone that doesn't have it. People can get involved by going to our registry page on the VMP Genetics website. Patients, parents, and anyone can be involved. We hope to also involve practitioners, nurse practitioners, nurses, students, genetic counselors and doctors. 

 

What are some of the stories that you've been hearing from patients? 

It feels like a lot of patients have not heard their stories told by anyone. And they end up in the emergency rooms with nurses and physicians who don't have their stories told, and that's what we want to change. 

 

RESOURCES MENTIONED

VMP Genetics Website

https://www.vmpgenetics.com/

Patient Teacher Registry

https://www.vmpgenetics.com/edu-services/patient-teacher

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:22:42 <![CDATA[Parents As Rare - Parenting with VCP Disease - Nathan Peck]]> Wed, 17 Nov 2021 16:30:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/parents-as-rare-parenting-with-vcp-disease-nathan-peck https://energy-in-action-by-mitoaction.castos.com/episodes/parents-as-rare-parenting-with-vcp-disease-nathan-peck  

PARENTS AS RARE - EPISODE 036

Parenting with VCP Disease - Nathan Peck

 

Nathan Peck is a husband, dad, VCP patient and the CEO of Cure VCP Disease. Through this organization, he is committed to bringing together patients, caregivers, researchers, pharmaceutical companies, other non-profits and investors to identify treatments and ultimately a cure for this rare, genetic disease. 

 

EPISODE HIGHLIGHTS

 

What is VCP Disease?

VCP disease is caused by a mutation in a gene called Valosin Containing Protein (VCP). I grew up with VCP, my mom and aunt are deceased from it and I have two uncles still living with the disease. VCP is a Multisystem Proteinopathy (MSP1) which means it affects multiple systems in the body, Inclusion Body Myopathy, Paget's Disease of Bone, and / or Frontotemporal Dementia. VCP can also cause disorders such as Amyotrophic lateral sclerosis (ALS), Parkinsonism or Charcot-Marie-Tooth disease. There's not a full understanding of the disease yet, so our focus is on finding families affected. We started Cure VCP Disease to organize the patients and science and facilitate collaboration.

 

How has your family history changed the trajectory of your journey?

VCP has been the black curse of the family and we knew there was a chance of developing systems at some point. Once I started experiencing systems, I decided to engage and do what I could do to influence change. With the availability of information and accessibility of the internet and social media, it's easier to get involved and learn. There's not going to be a fix for me, but there can be for my kids. 

 

As a dad, thinking back to your diagnosis, what do you remember most?

I remember trying to keep it from my kids because we assumed they weren't old enough to deal with it. We realized later that we needed to be more transparent about what was going on.

 

How have you adjusted the activities you do with your kids and how do you interact with them now with your limitations?

We play games and spend time as a family. I'm just going to progress forward and keep making memories with my kids. My goal is to do as much as I can while I can. 

 

What would you say to a parent with a rare disease or chronic disease?

Only you know what you can do, but don't settle. Keep pushing and adjust where you have to. Find a balance and care for yourself so you can be present for your kids and those moments that matter.




RESOURCES MENTIONED

Permission to Feel by Marc Brackett Ph.D.

https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847

TravelScoot

https://www.travelscoot.com/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

]]> full 36 false  

PARENTS AS RARE - EPISODE 036

Parenting with VCP Disease - Nathan Peck

 

Nathan Peck is a husband, dad, VCP patient and the CEO of Cure VCP Disease. Through this organization, he is committed to bringing together patients, caregivers, researchers, pharmaceutical companies, other non-profits and investors to identify treatments and ultimately a cure for this rare, genetic disease. 

 

EPISODE HIGHLIGHTS

 

What is VCP Disease?

VCP disease is caused by a mutation in a gene called Valosin Containing Protein (VCP). I grew up with VCP, my mom and aunt are deceased from it and I have two uncles still living with the disease. VCP is a Multisystem Proteinopathy (MSP1) which means it affects multiple systems in the body, Inclusion Body Myopathy, Paget's Disease of Bone, and / or Frontotemporal Dementia. VCP can also cause disorders such as Amyotrophic lateral sclerosis (ALS), Parkinsonism or Charcot-Marie-Tooth disease. There's not a full understanding of the disease yet, so our focus is on finding families affected. We started Cure VCP Disease to organize the patients and science and facilitate collaboration.

 

How has your family history changed the trajectory of your journey?

VCP has been the black curse of the family and we knew there was a chance of developing systems at some point. Once I started experiencing systems, I decided to engage and do what I could do to influence change. With the availability of information and accessibility of the internet and social media, it's easier to get involved and learn. There's not going to be a fix for me, but there can be for my kids. 

 

As a dad, thinking back to your diagnosis, what do you remember most?

I remember trying to keep it from my kids because we assumed they weren't old enough to deal with it. We realized later that we needed to be more transparent about what was going on.

 

How have you adjusted the activities you do with your kids and how do you interact with them now with your limitations?

We play games and spend time as a family. I'm just going to progress forward and keep making memories with my kids. My goal is to do as much as I can while I can. 

 

What would you say to a parent with a rare disease or chronic disease?

Only you know what you can do, but don't settle. Keep pushing and adjust where you have to. Find a balance and care for yourself so you can be present for your kids and those moments that matter.




RESOURCES MENTIONED

Permission to Feel by Marc Brackett Ph.D.

https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847

TravelScoot

https://www.travelscoot.com/

 

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:38:52 <![CDATA[The MitoSantas Program]]> Wed, 10 Nov 2021 16:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/the-mitosantas-program https://energy-in-action-by-mitoaction.castos.com/episodes/the-mitosantas-program  

ENERGY IN ACTION - EPISODE 035

The MitoSantas Program

 

We're in the Christmas spirit at MitoAction. Jeannie Freeman and Stephanie Tomlinson discuss the popular MitoSantas program. Tune in to learn more about how you can support the program, how to become an elf or a recipient. 

 

EPISODE HIGHLIGHTS

 

What is the history of the MitoSantas program?

MitoSantas started in western New York in 2009 when a group of moms attending a support group meeting shared their struggles around Christmas time. People began offering to donate money and from then on, local families came together to support each other year after year to ensure mito kids had a great holiday. The program grew and eventually MitoAction got involved. 

 

How many kids participate in MitoSantas?

The program is for kids affected by mitochondrial disease and siblings of those kids. Last year we had over one hundred kids. 

 

Can families apply every year?

Families can apply annually. Each year we open an application asking questions about the child— favorite color, character, sports team, snacks, clothing sizes. The application asks the same questions for siblings. 

 

How is the MitoSantas program funded?

We submit grant requests and obtain corporate sponsors. Since the program started in 2009, there has been a generous sponsor who chooses to stay anonymous and he accounts for a significant portion of the funding. We fundraise through different events that support the program and donations are also appreciated. 

 

How do you become an elf?

Being an elf is an important part of the program. As a small staff, we can always use help to field requests, shop for gifts, wrap gifts and ensure gifts are delivered by Christmas. No matter where you live, there are elf duties you can do. Anyone who wants to volunteer can email info@mitoaction.org.

 

RESOURCES MENTIONED

MitoSantas Recipient Application

https://www.mitoaction.org/mito-santas/application/

Support MitoSantas Program

https://give.mitoaction.org/campaign/mitosantas/c240360

MitoSantas Program Page

https://www.mitoaction.org/mito-santas/

MitoSantas on Facebook

https://www.facebook.com/mitosantas

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

]]> full 35 false  

ENERGY IN ACTION - EPISODE 035

The MitoSantas Program

 

We're in the Christmas spirit at MitoAction. Jeannie Freeman and Stephanie Tomlinson discuss the popular MitoSantas program. Tune in to learn more about how you can support the program, how to become an elf or a recipient. 

 

EPISODE HIGHLIGHTS

 

What is the history of the MitoSantas program?

MitoSantas started in western New York in 2009 when a group of moms attending a support group meeting shared their struggles around Christmas time. People began offering to donate money and from then on, local families came together to support each other year after year to ensure mito kids had a great holiday. The program grew and eventually MitoAction got involved. 

 

How many kids participate in MitoSantas?

The program is for kids affected by mitochondrial disease and siblings of those kids. Last year we had over one hundred kids. 

 

Can families apply every year?

Families can apply annually. Each year we open an application asking questions about the child— favorite color, character, sports team, snacks, clothing sizes. The application asks the same questions for siblings. 

 

How is the MitoSantas program funded?

We submit grant requests and obtain corporate sponsors. Since the program started in 2009, there has been a generous sponsor who chooses to stay anonymous and he accounts for a significant portion of the funding. We fundraise through different events that support the program and donations are also appreciated. 

 

How do you become an elf?

Being an elf is an important part of the program. As a small staff, we can always use help to field requests, shop for gifts, wrap gifts and ensure gifts are delivered by Christmas. No matter where you live, there are elf duties you can do. Anyone who wants to volunteer can email info@mitoaction.org.

 

RESOURCES MENTIONED

MitoSantas Recipient Application

https://www.mitoaction.org/mito-santas/application/

Support MitoSantas Program

https://give.mitoaction.org/campaign/mitosantas/c240360

MitoSantas Program Page

https://www.mitoaction.org/mito-santas/

MitoSantas on Facebook

https://www.facebook.com/mitosantas

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:19:54 <![CDATA[Meet the Mito Girl]]> Wed, 03 Nov 2021 15:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/meet-the-mito-girl https://energy-in-action-by-mitoaction.castos.com/episodes/meet-the-mito-girl  

ENERGY IN ACTION - EPISODE 034

Meet The Mito Girl

 

Daniela Gallo shares her journey of living with mitochondrial disease while balancing motherhood, working, spreading awareness and caring for herself.

 

EPISODE HIGHLIGHTS

 

Can you share your diagnosis?

I have Kearns Sayre Syndrome (KSS), which I was diagnosed with four years ago, at the age of 31. I started showing symptoms when I was 12 years old, in the form of a droopy eyelid. Doctors speculated that muscles just didn’t develop well. And then I had an eye infection, went to the hospital and the ophthalmologist asked me to follow his finger so he could check my eye movement. I was surprised to learn that I had no ocular movement. I saw another specialist that diagnosed me with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). 

 

Do you see local specialists or do you travel for care? 

I'm lucky because I live in a city where we have a hospital linked to the university. There are specialists in the metabolic and genetics departments where I follow up. I am in touch with people from Italy and I know it’s not really straightforward there. 

 

How does it work for you being a working parent with a rare disease in Switzerland?

It's not easy because I'm also a single mom. But I'm lucky and I know I am. My kids Dad and I have a really good relationship and share custody. Our kids stay one week with me and one week with him. This helps me to have the time to recover in the off week. When it comes to work, I work part time because full time is impossible. I think I have found a good balance. I think it takes a lot of planning, a lot of listening to your body, really recovering when you need it. If you need to laugh, laugh. If you need to cancel an appointment, cancel. 

 

Where do you get the bravery and grit to be honest about being a working mom with a rare disease on social media?

It’s my outlet. I felt really lonely after my diagnosis. I was left alone, battling this disease. I came across Facebook groups that were life saving for me. They helped me understand more about the disease and reassured me of a lot of things. Having that supportive network was essential. One of the reasons why I started posting on social media was simply because I wanted to share with people what it was like living with mitochondrial disease. But I'm also a mom, I'm a woman, I work. There are so many other things besides the disease. I don't want people to feel alone, so I share what I go through to help others not to feel so lonely in this process. 

 

RESOURCES MENTIONED

Daniela Gallo on Instagram @themitogirl

https://www.instagram.com/themitogirl/?hl=en



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

]]> full 34 false  

ENERGY IN ACTION - EPISODE 034

Meet The Mito Girl

 

Daniela Gallo shares her journey of living with mitochondrial disease while balancing motherhood, working, spreading awareness and caring for herself.

 

EPISODE HIGHLIGHTS

 

Can you share your diagnosis?

I have Kearns Sayre Syndrome (KSS), which I was diagnosed with four years ago, at the age of 31. I started showing symptoms when I was 12 years old, in the form of a droopy eyelid. Doctors speculated that muscles just didn’t develop well. And then I had an eye infection, went to the hospital and the ophthalmologist asked me to follow his finger so he could check my eye movement. I was surprised to learn that I had no ocular movement. I saw another specialist that diagnosed me with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). 

 

Do you see local specialists or do you travel for care? 

I'm lucky because I live in a city where we have a hospital linked to the university. There are specialists in the metabolic and genetics departments where I follow up. I am in touch with people from Italy and I know it’s not really straightforward there. 

 

How does it work for you being a working parent with a rare disease in Switzerland?

It's not easy because I'm also a single mom. But I'm lucky and I know I am. My kids Dad and I have a really good relationship and share custody. Our kids stay one week with me and one week with him. This helps me to have the time to recover in the off week. When it comes to work, I work part time because full time is impossible. I think I have found a good balance. I think it takes a lot of planning, a lot of listening to your body, really recovering when you need it. If you need to laugh, laugh. If you need to cancel an appointment, cancel. 

 

Where do you get the bravery and grit to be honest about being a working mom with a rare disease on social media?

It’s my outlet. I felt really lonely after my diagnosis. I was left alone, battling this disease. I came across Facebook groups that were life saving for me. They helped me understand more about the disease and reassured me of a lot of things. Having that supportive network was essential. One of the reasons why I started posting on social media was simply because I wanted to share with people what it was like living with mitochondrial disease. But I'm also a mom, I'm a woman, I work. There are so many other things besides the disease. I don't want people to feel alone, so I share what I go through to help others not to feel so lonely in this process. 

 

RESOURCES MENTIONED

Daniela Gallo on Instagram @themitogirl

https://www.instagram.com/themitogirl/?hl=en



CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:23:52 <![CDATA[Parents as Rare - Emma and Spencer - The Heart of Parents As Rare]]> Wed, 20 Oct 2021 14:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/parents-as-rare-emma-and-spencer-the-heart-of-parents-as-rare https://energy-in-action-by-mitoaction.castos.com/episodes/parents-as-rare-emma-and-spencer-the-heart-of-parents-as-rare  

PARENTS AS RARE - EPISODE 033

Emma & Spencer - The Heart of Parents As Rare

As a dad with a rare disease, I often think about the ways my children have been impacted. My children, 11 year old Emma and 5 year old Spencer, share their thoughts and feelings on this inaugural episode. 

EPISODE HIGHLIGHTS

What do you remember about my diagnosis?

I knew it was a muscle disease and that's all anyone really knew. I don't remember the day you told me specifically. 

Do you recall the first time you came to me to talk about my rare disease?

It was when I was doing a school project on the human body and I chose muscles. I came to you for more information about the disease and how it affected muscles. 

What is your advice for other kids who have a parent diagnosed with a rare disease or chronic illness?

When you're ready, learn about the condition so you can help your parents and tell other people about it. Knowing about the disease will help you understand limitations and what activities you can still do together.

What's the hardest thing for you since my diagnosis?

We can't always do the things we did together before, we have to find other things we can do and ensure time for you to rest. It's a different you, having to rest instead of going from one thing to the next like before.

Can you share how you used your school presentation to start Another Helping?

I started a passion project the next school year called Another Helping with a goal of helping people with or affected by mitochondrial disease. I raise money through programs with MitoAction to assist in education, advocacy and awareness initiatives. MitoSantas will begin in November where I'll be raising money to purchase Christmas presents for children with mitochondrial disease.

RESOURCES MENTIONED

MitoAction

https://www.mitoaction.org/

Permission To Feel, Marc Brackett Ph.D.

https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847

Another Helping

https://www.mitoaction.org/join-the-cause/anotherhelping/

Another Helping on Twitter @Bake4Mito

https://twitter.com/bake4mito

Another Helping on Instagram @Bake4Mito

https://www.instagram.com/bake4mito/

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad

]]> full 33 false  

PARENTS AS RARE - EPISODE 033

Emma & Spencer - The Heart of Parents As Rare

As a dad with a rare disease, I often think about the ways my children have been impacted. My children, 11 year old Emma and 5 year old Spencer, share their thoughts and feelings on this inaugural episode. 

EPISODE HIGHLIGHTS

What do you remember about my diagnosis?

I knew it was a muscle disease and that's all anyone really knew. I don't remember the day you told me specifically. 

Do you recall the first time you came to me to talk about my rare disease?

It was when I was doing a school project on the human body and I chose muscles. I came to you for more information about the disease and how it affected muscles. 

What is your advice for other kids who have a parent diagnosed with a rare disease or chronic illness?

When you're ready, learn about the condition so you can help your parents and tell other people about it. Knowing about the disease will help you understand limitations and what activities you can still do together.

What's the hardest thing for you since my diagnosis?

We can't always do the things we did together before, we have to find other things we can do and ensure time for you to rest. It's a different you, having to rest instead of going from one thing to the next like before.

Can you share how you used your school presentation to start Another Helping?

I started a passion project the next school year called Another Helping with a goal of helping people with or affected by mitochondrial disease. I raise money through programs with MitoAction to assist in education, advocacy and awareness initiatives. MitoSantas will begin in November where I'll be raising money to purchase Christmas presents for children with mitochondrial disease.

RESOURCES MENTIONED

MitoAction

https://www.mitoaction.org/

Permission To Feel, Marc Brackett Ph.D.

https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847

Another Helping

https://www.mitoaction.org/join-the-cause/anotherhelping/

Another Helping on Twitter @Bake4Mito

https://twitter.com/bake4mito

Another Helping on Instagram @Bake4Mito

https://www.instagram.com/bake4mito/

FOLLOW ADAM JOHNSON

Twitter @RareDiseaseDad

https://twitter.com/rarediseasedad 

Instagram @RareDiseaseDad 

https://www.instagram.com/rarediseasedad/

LinkedIn

https://www.linkedin.com/in/adam-johnson-8a1473125

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction



]]> 00:45:59 <![CDATA[RNE Annual Conference]]> Wed, 13 Oct 2021 15:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/rne-annual-conference https://energy-in-action-by-mitoaction.castos.com/episodes/rne-annual-conference ENERGY IN ACTION - EPISODE 032

RNE Annual Conference

Rare New England is a nonprofit in Massachusetts who serves the rare disease community in New England. Julie Gortz, Founder and Volunteer President of Rare New England, is sharing about the organization, how it started and about their upcoming conference on October 23rd.

EPISODE HIGHLIGHTS

What is your annual conference about?

While there are a lot of resources available to patients, they don't always know about them. We hold an annual conference each year in a New England state, but it will be virtual this year. The theme for the conference is resilience because the rare disease community is resilient, even still through the challenges of the pandemic. Attendance is free for patients and caregivers.

What is Rare New England's strategic plan?

We started as a support group, not a nonprofit and people came to meetings from states away. I asked for donations to help feed lunch to the attendees, which is difficult to collect without being a nonprofit. We didn't know the potential we could bring from the New England area though the programs we've added. We're still growing and hope to expand the programs we have to be more efficient for families to access. 

Can you share about the career fair program?

We have monthly career fairs for medical students to share with them what's happening in the genetic world in hopes that they gain interest and perhaps go into genetics in medical school. 

RESOURCES MENTIONED

RNE Annual Conference Registration

https://www.eventbrite.com/e/improving-health-care-experiences-in-the-rare-disease-community-tickets-155702984819

Annual Conference Speakers & Agenda

https://www.rarenewengland.org/2021

Rare New England

https://www.rarenewengland.org/

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> full 32 false ENERGY IN ACTION - EPISODE 032

RNE Annual Conference

Rare New England is a nonprofit in Massachusetts who serves the rare disease community in New England. Julie Gortz, Founder and Volunteer President of Rare New England, is sharing about the organization, how it started and about their upcoming conference on October 23rd.

EPISODE HIGHLIGHTS

What is your annual conference about?

While there are a lot of resources available to patients, they don't always know about them. We hold an annual conference each year in a New England state, but it will be virtual this year. The theme for the conference is resilience because the rare disease community is resilient, even still through the challenges of the pandemic. Attendance is free for patients and caregivers.

What is Rare New England's strategic plan?

We started as a support group, not a nonprofit and people came to meetings from states away. I asked for donations to help feed lunch to the attendees, which is difficult to collect without being a nonprofit. We didn't know the potential we could bring from the New England area though the programs we've added. We're still growing and hope to expand the programs we have to be more efficient for families to access. 

Can you share about the career fair program?

We have monthly career fairs for medical students to share with them what's happening in the genetic world in hopes that they gain interest and perhaps go into genetics in medical school. 

RESOURCES MENTIONED

RNE Annual Conference Registration

https://www.eventbrite.com/e/improving-health-care-experiences-in-the-rare-disease-community-tickets-155702984819

Annual Conference Speakers & Agenda

https://www.rarenewengland.org/2021

Rare New England

https://www.rarenewengland.org/

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:24:05 <![CDATA[Making Mito Wishes Come True - A Partnership with Give Kids the World Village]]> Wed, 06 Oct 2021 15:03:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/making-mito-wishes-come-true-a-partnership-with-give-kids-the-world-village https://energy-in-action-by-mitoaction.castos.com/episodes/making-mito-wishes-come-true-a-partnership-with-give-kids-the-world-village  

ENERGY IN ACTION - EPISODE 031

Making Mito Wishes Come True - A Partnership with Give Kids The World Village

 

MitoAction and Give Kids The World have partnered to provide kids in the community an amazing experience. Amy from Give Kids the World joins me to share more about the organization and program offerings for wish families.

 

EPISODE HIGHLIGHTS

 

What is the history of Give Kids The World?

The village was founded by Henri Landwirth, who has an incredible story as a holocaust survivor. After coming to the United States he studied hospitality in college and later went on to own and operate the first Holiday Inn just outside of Disney. He learned of wish families coming to the area and would offer to let them stay at his hotel for free. After a little girl wasn't able to make her wish trip in time, Henri formed partnerships to help facilitate quicker fulfillment of wish trips. In 1986, Henri answered a need for Make-A-Wish and established Give Kids The World. Three years later, he opened Give Kids The World Village which has since grown to 166 villas, 89 acres and we've hosted over 176,000 families from all over the world. What started as a small vision to help wish families has grown and we're honored to continue Henri's legacy.

 

How do kids get a wish granted and what can they expect from Give Kids The World?

We work with over 220 wish granting partners around the world who identify wish families, determining that a child has a life-threatening or critical illness and that their wish involves central Florida. The wish granting organization works with us to set up accommodations at the village. In addition to the family villas, we serve all meals, we have two pools, a spa, a splash pad, entertainment programs, attractions and a gift fairy. It's not just a hotel stay, but also a week's worth of activities. Our theme park partners include Disney, Universal, Sea World, Legoland, Gatorland, Kennedy Space Center, Aquatica and several others. They provide a range of vacation options for families staying with us, which our guest experience team will arrange and plan prior to a family’s stay.

 

Can families come back to the Give Kids The World Village?

A wish trip is a once in a lifetime opportunity, but families with additional wish children can come back again. Otherwise, families are welcome to visit the village for day trips two times per calendar year as an alumni family. Often families come back and want to visit the Castle of Miracles, a really special place at the village. Every wish child gets a gold star when they arrive and they write their name or draw a picture on the star and give it to the star fairy who will hang it in the galaxies of the castle at night. They'll get a star passport telling them where to find their star, so they can always come back to visit and find their star.

 

RESOURCES MENTIONED

Give Kids The World

https://www.gktw.org/

Make-A-Wish

https://wish.org/

Dream Factory 

https://www.dreamfactoryinc.org/

The Rainbow Connection

ht...

]]> full 31 false  

ENERGY IN ACTION - EPISODE 031

Making Mito Wishes Come True - A Partnership with Give Kids The World Village

 

MitoAction and Give Kids The World have partnered to provide kids in the community an amazing experience. Amy from Give Kids the World joins me to share more about the organization and program offerings for wish families.

 

EPISODE HIGHLIGHTS

 

What is the history of Give Kids The World?

The village was founded by Henri Landwirth, who has an incredible story as a holocaust survivor. After coming to the United States he studied hospitality in college and later went on to own and operate the first Holiday Inn just outside of Disney. He learned of wish families coming to the area and would offer to let them stay at his hotel for free. After a little girl wasn't able to make her wish trip in time, Henri formed partnerships to help facilitate quicker fulfillment of wish trips. In 1986, Henri answered a need for Make-A-Wish and established Give Kids The World. Three years later, he opened Give Kids The World Village which has since grown to 166 villas, 89 acres and we've hosted over 176,000 families from all over the world. What started as a small vision to help wish families has grown and we're honored to continue Henri's legacy.

 

How do kids get a wish granted and what can they expect from Give Kids The World?

We work with over 220 wish granting partners around the world who identify wish families, determining that a child has a life-threatening or critical illness and that their wish involves central Florida. The wish granting organization works with us to set up accommodations at the village. In addition to the family villas, we serve all meals, we have two pools, a spa, a splash pad, entertainment programs, attractions and a gift fairy. It's not just a hotel stay, but also a week's worth of activities. Our theme park partners include Disney, Universal, Sea World, Legoland, Gatorland, Kennedy Space Center, Aquatica and several others. They provide a range of vacation options for families staying with us, which our guest experience team will arrange and plan prior to a family’s stay.

 

Can families come back to the Give Kids The World Village?

A wish trip is a once in a lifetime opportunity, but families with additional wish children can come back again. Otherwise, families are welcome to visit the village for day trips two times per calendar year as an alumni family. Often families come back and want to visit the Castle of Miracles, a really special place at the village. Every wish child gets a gold star when they arrive and they write their name or draw a picture on the star and give it to the star fairy who will hang it in the galaxies of the castle at night. They'll get a star passport telling them where to find their star, so they can always come back to visit and find their star.

 

RESOURCES MENTIONED

Give Kids The World

https://www.gktw.org/

Make-A-Wish

https://wish.org/

Dream Factory 

https://www.dreamfactoryinc.org/

The Rainbow Connection

https://www.rainbowconnection.org/

Dreams Come True of Jacksonville

https://www.dreamscometrue.org/

MitoAction Wish Trip Nomination Form

https://www.mitoaction.org/wishes/nomination/

 

CONNECT WITH MITOACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

]]> 00:34:17 <![CDATA[Trailer - Parents As Rare]]> Wed, 29 Sep 2021 15:00:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/trailer-parents-as-rare https://energy-in-action-by-mitoaction.castos.com/episodes/trailer-parents-as-rare trailer 30 false 00:04:20 <![CDATA[AllStripes and Cyclerion - Community Collaboration to Push Clinical Trials Forward]]> Wed, 22 Sep 2021 16:13:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/allstripes-and-cyclerion-community-collaboration-to-push-clinical-trials-forward https://energy-in-action-by-mitoaction.castos.com/episodes/allstripes-and-cyclerion-community-collaboration-to-push-clinical-trials-forward  

ENERGY IN ACTION - EPISODE 029

AllStripes & Cyclerion - Community Collaboration to Push Clinical Trials Forward

Richard Elles, Director of Patient Advocacy & Industry Engagement with AllStripes and Chad Glasser, Director of Clinical Research with Cyclerion Therapeutics, join us to discuss a pivotal clinical trial that Cyclerion Therapeutics has and the collaboration we have with AllStripes to help move the research initiative forward. 

EPISODE HIGHLIGHTS

Can you tell us about Cyclerion's MELAS Study?

Cyclerion Therapeutics has an ongoing clinical study in patients with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) that's evaluating the investigational drug 6463. The study is a 29 day study and looks at safety and tolerability primarily and also determining what 6463 does to the disease. Next steps are subsequent confirmatory studies to be conducted, further confirming safety and efficacy and to move closer to an eventual approval. 

What is the importance of patient participation in clinical trials? 

Drugs can't be approved and the safety and efficacy of drugs can't be evaluated without patient engagement. We have a responsibility to study drugs in a sufficient number of patients to fully understand effects and that's how approval is justified and moves through phases of development. 

What would you like qualified patients to know about participating in the trial?

We know a lot about this molecule and we feel confident in the safety profile and efficacy. This study has been designed to be as easy and feasible as possible. Things like remote visits and travel reimbursement are offered to make it more convenient for patients to participate.

What does AllStripes do and how does that work compliment pharmaceutical work?

The mission of AllStripes is to unlock new treatments for people affected by rare disease and knowing the one that is diagnosed is not just the one affected. We've introduced a two-sided platform that allows patients to access all of their medical records in one place while also enabling the generation of de-identified data from the community to power new treatment research from home. We're seeking to empower patients to contribute with little effort and feel inspired to contribute to research while also having a place to advocate, share their stories and inspire others. We partner with companies like Cyclerion to gather data reported by healthcare facilities, hospital and other medical organizations and create a data set that is usable for clinical trial protocol writing, national history studies, comparative studies and other possibilities that widen the window for treatment.

How do you connect AllStripes patients with clinical trials based on their records and diagnosis?

It's important for us to provide patients with educational resources, but also opportunities to get involved with companies like Cyclerion who are actively seeking participants in clinical trials and can help to move toward treatment options available to patients. Our platform has an updated list of clinical trials with the ability to indicate interest to receive more information about patient involvement.

RESOURCES MENTIONED

Cyclerion Therapeutics

https://www.cyclerion.com/

U.S. National Library of Medicine Clinical Trial...

]]> full 29 false  

ENERGY IN ACTION - EPISODE 029

AllStripes & Cyclerion - Community Collaboration to Push Clinical Trials Forward

Richard Elles, Director of Patient Advocacy & Industry Engagement with AllStripes and Chad Glasser, Director of Clinical Research with Cyclerion Therapeutics, join us to discuss a pivotal clinical trial that Cyclerion Therapeutics has and the collaboration we have with AllStripes to help move the research initiative forward. 

EPISODE HIGHLIGHTS

Can you tell us about Cyclerion's MELAS Study?

Cyclerion Therapeutics has an ongoing clinical study in patients with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) that's evaluating the investigational drug 6463. The study is a 29 day study and looks at safety and tolerability primarily and also determining what 6463 does to the disease. Next steps are subsequent confirmatory studies to be conducted, further confirming safety and efficacy and to move closer to an eventual approval. 

What is the importance of patient participation in clinical trials? 

Drugs can't be approved and the safety and efficacy of drugs can't be evaluated without patient engagement. We have a responsibility to study drugs in a sufficient number of patients to fully understand effects and that's how approval is justified and moves through phases of development. 

What would you like qualified patients to know about participating in the trial?

We know a lot about this molecule and we feel confident in the safety profile and efficacy. This study has been designed to be as easy and feasible as possible. Things like remote visits and travel reimbursement are offered to make it more convenient for patients to participate.

What does AllStripes do and how does that work compliment pharmaceutical work?

The mission of AllStripes is to unlock new treatments for people affected by rare disease and knowing the one that is diagnosed is not just the one affected. We've introduced a two-sided platform that allows patients to access all of their medical records in one place while also enabling the generation of de-identified data from the community to power new treatment research from home. We're seeking to empower patients to contribute with little effort and feel inspired to contribute to research while also having a place to advocate, share their stories and inspire others. We partner with companies like Cyclerion to gather data reported by healthcare facilities, hospital and other medical organizations and create a data set that is usable for clinical trial protocol writing, national history studies, comparative studies and other possibilities that widen the window for treatment.

How do you connect AllStripes patients with clinical trials based on their records and diagnosis?

It's important for us to provide patients with educational resources, but also opportunities to get involved with companies like Cyclerion who are actively seeking participants in clinical trials and can help to move toward treatment options available to patients. Our platform has an updated list of clinical trials with the ability to indicate interest to receive more information about patient involvement.

RESOURCES MENTIONED

Cyclerion Therapeutics

https://www.cyclerion.com/

U.S. National Library of Medicine Clinical Trials Resource

https://clinicaltrials.gov/

Phase 2a Study of IW-6463 in Adults Diagnosed With MELAS

https://clinicaltrials.gov/ct2/show/NCT04475549?cond=MELAS&draw=2&rank=1

AllStripes

https://www.allstripes.com/

 

CONNECT WITH MITO ACTION

Website

https://www.mitoaction.org/

Facebook

https://www.facebook.com/mitoaction

Twitter

https://twitter.com/mitoaction

Instagram

https://www.instagram.com/mitoaction/

LinkedIn

https://www.linkedin.com/company/mitoaction

 

TUNE INTO OUR PODCASTS

Energy in Action on Spotify

Energy in Action on Apple

Energy in Action on Google

Parents As Rare - Coming soon!

 

]]> 00:48:47 <![CDATA[Fight - Research - Hope - Cure]]> Thu, 16 Sep 2021 07:59:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/fight-research-hope-cure https://energy-in-action-by-mitoaction.castos.com/episodes/fight-research-hope-cure Meet Kasey Woleben and Sophia Zilber from the Cure Mito Foundation!

 

The Cure SURF1 Foundation was founded in 2018 by a group of families determined to fight for our children’s lives.  Each of us has a young child diagnosed with SURF1 Leigh syndrome.  Each of us has been told by doctors that there is no treatment, no cure, and no hope.  And each of us has refused to accept this as a final answer. 

In 2021, after successfully blazing the trail for SURF1 gene therapy at UTSW we decided to expand our efforts and changed the name of our foundation from the Cure SURF1 Foundation to the Cure MITO Foundation.  Our primary focus is advancing research towards a cure for Leigh syndrome and eventually for mitochondrial disease as a whole.  A successful outcome will mean not only hope for our own children, but also life-saving treatments for future generations impacted by this disease. 

]]> full 28 false Meet Kasey Woleben and Sophia Zilber from the Cure Mito Foundation!

 

The Cure SURF1 Foundation was founded in 2018 by a group of families determined to fight for our children’s lives.  Each of us has a young child diagnosed with SURF1 Leigh syndrome.  Each of us has been told by doctors that there is no treatment, no cure, and no hope.  And each of us has refused to accept this as a final answer. 

In 2021, after successfully blazing the trail for SURF1 gene therapy at UTSW we decided to expand our efforts and changed the name of our foundation from the Cure SURF1 Foundation to the Cure MITO Foundation.  Our primary focus is advancing research towards a cure for Leigh syndrome and eventually for mitochondrial disease as a whole.  A successful outcome will mean not only hope for our own children, but also life-saving treatments for future generations impacted by this disease. 

]]> 00:38:28 <![CDATA[Another Helping]]> Wed, 08 Sep 2021 11:01:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/another-helping https://energy-in-action-by-mitoaction.castos.com/episodes/another-helping Meet Another Helping founder and daughter of the "Dadvocate," Emma Johnson and learn how she combined 2 of her passions to help others who are affected by mitochondrial disease like her dad.

]]> full 27 false Meet Another Helping founder and daughter of the "Dadvocate," Emma Johnson and learn how she combined 2 of her passions to help others who are affected by mitochondrial disease like her dad.

]]> 00:26:16 <![CDATA[Giving You the Power to Take Control of Your Healthcare Journey While Moving Mito Research]]> Fri, 02 Jul 2021 07:59:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/giving-you-the-power-to-take-control-of-your-healthcare-journey-while-moving-mito-research https://energy-in-action-by-mitoaction.castos.com/episodes/giving-you-the-power-to-take-control-of-your-healthcare-journey-while-moving-mito-research Meet MitoAction's CEO, Kira Mann and Care3's CEO, David Williams to learn about MitoAction Mobile, our HIPPA compliant, comprehensive care planning and tracking platform for patients, caregivers and healthcare professionals.

]]> full 26 false Meet MitoAction's CEO, Kira Mann and Care3's CEO, David Williams to learn about MitoAction Mobile, our HIPPA compliant, comprehensive care planning and tracking platform for patients, caregivers and healthcare professionals.

]]> 00:52:26 <![CDATA[Having a Voice That Deserves To Be Heard]]> Wed, 26 May 2021 20:16:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/having-a-voice-that-deserves-to-be-heard https://energy-in-action-by-mitoaction.castos.com/episodes/having-a-voice-that-deserves-to-be-heard Meet the team at Rare Patient Voice and learn how to make your voice heard!

]]> full 25 false Meet the team at Rare Patient Voice and learn how to make your voice heard!

]]> 00:45:59 <![CDATA[Patients as Partners in Ultragenyx LC-FAOD Research]]> Wed, 12 May 2021 13:47:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/patients-as-partners-in-ultragenyx-lc-faod-research https://energy-in-action-by-mitoaction.castos.com/episodes/patients-as-partners-in-ultragenyx-lc-faod-research Join Energy in Action host, Stephanie Tomlinson as she interviews Emil Kakkis and Jessica Riviere from Ultragenyx Pharmaceutical.

On this podcast, Ultragenyx will share how the company entered into LC-FAOD research, its research efforts, and how LC-FAOD patient voices and community engagement are central to the planning, implementation, and advancement of Ultragenyx research and programs. Ultragenyx is proud to partner with MitoAction to provide the LC-FAOD community with information and updates through a series of discussions on MitoAction’s Energy in Action podcast and Monthly Expert Webinar Series.

*This podcast episode is intended for U.S. members of the MitoAction community.*

 

]]> full 24 false Join Energy in Action host, Stephanie Tomlinson as she interviews Emil Kakkis and Jessica Riviere from Ultragenyx Pharmaceutical.

On this podcast, Ultragenyx will share how the company entered into LC-FAOD research, its research efforts, and how LC-FAOD patient voices and community engagement are central to the planning, implementation, and advancement of Ultragenyx research and programs. Ultragenyx is proud to partner with MitoAction to provide the LC-FAOD community with information and updates through a series of discussions on MitoAction’s Energy in Action podcast and Monthly Expert Webinar Series.

*This podcast episode is intended for U.S. members of the MitoAction community.*

 

]]> 00:40:32 <![CDATA[One Step Closer]]> Fri, 07 May 2021 13:24:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/one-step-closer https://energy-in-action-by-mitoaction.castos.com/episodes/one-step-closer Listen it to meet MitoCanada's Chief Executive Officer Kate Murray and Chief Development Officer Catherine Mulvale.

]]> full 23 false Listen it to meet MitoCanada's Chief Executive Officer Kate Murray and Chief Development Officer Catherine Mulvale.

]]> 00:52:27 <![CDATA[Chronically-Inspired]]> Wed, 28 Apr 2021 01:31:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/chronically-inspired https://energy-in-action-by-mitoaction.castos.com/episodes/chronically-inspired Meet April Arguin!

]]> full 22 false Meet April Arguin!

]]> 00:39:28 <![CDATA[Caregiver Toolboxes...A Lifeline and Support]]> Thu, 22 Apr 2021 18:11:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/caregiver-toolboxesa-lifeline-and-support https://energy-in-action-by-mitoaction.castos.com/episodes/caregiver-toolboxesa-lifeline-and-support Meet Nichole Goble and learn more about the Caregivers Action Network!

]]> full 21 false Meet Nichole Goble and learn more about the Caregivers Action Network!

]]> 00:47:51 <![CDATA[A Mom and Daughter's Journey With Mito]]> Mon, 12 Apr 2021 14:19:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/a-mom-and-daughter39s-journey-with-mito https://energy-in-action-by-mitoaction.castos.com/episodes/a-mom-and-daughter39s-journey-with-mito Meet Kari and her daughter Hailee!

]]> full 20 false Meet Kari and her daughter Hailee!

]]> 00:47:23 <![CDATA[Lifeline: It's More Than What You Think]]> Sat, 03 Apr 2021 13:28:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/lifeline-it39s-more-than-what-you-think https://energy-in-action-by-mitoaction.castos.com/episodes/lifeline-it39s-more-than-what-you-think Tune in to learn more about The Oley Foundation!

]]> full 19 false Tune in to learn more about The Oley Foundation!

]]> 00:45:39 <![CDATA[It's Probably Genetic]]> Sat, 27 Mar 2021 13:46:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/it39s-probably-genetic https://energy-in-action-by-mitoaction.castos.com/episodes/it39s-probably-genetic Tune in to meet Lukas from Probably Genetic and learn how you can find out if their DNA test is right for you!

]]> full 18 false Tune in to meet Lukas from Probably Genetic and learn how you can find out if their DNA test is right for you!

]]> 00:40:30 <![CDATA[Adventure Awaits...A Teen's Inspiring Journey with Mito!]]> Fri, 19 Mar 2021 18:41:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/adventure-awaitsa-teen39s-inspiring-journey-with-mito https://energy-in-action-by-mitoaction.castos.com/episodes/adventure-awaitsa-teen39s-inspiring-journey-with-mito Meet Annie Leeds!

]]> full 17 false Meet Annie Leeds!

]]> 00:23:58 <![CDATA[The Effects of Having a Diagnosis of TK2]]> Fri, 12 Mar 2021 21:51:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/the-effects-of-having-a-diagnosis-of-tk2 https://energy-in-action-by-mitoaction.castos.com/episodes/the-effects-of-having-a-diagnosis-of-tk2 Meet Mark Jensen and Dagmar Amtmann and learn about their research study with Zogenix!

]]> full 16 false Meet Mark Jensen and Dagmar Amtmann and learn about their research study with Zogenix!

]]> 00:38:32 <![CDATA[Making Your Voice Heard Through Song]]> Thu, 04 Mar 2021 15:19:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/making-your-voice-heard-through-song https://energy-in-action-by-mitoaction.castos.com/episodes/making-your-voice-heard-through-song Meet Dan & Rebecca - the co-founders of Hear Your Song!

]]> full 15 false Meet Dan & Rebecca - the co-founders of Hear Your Song!

]]> 00:34:29 <![CDATA[Clinical Trials and COVID-19]]> Wed, 24 Feb 2021 16:45:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/clinical-trials-and-covid-19 https://energy-in-action-by-mitoaction.castos.com/episodes/clinical-trials-and-covid-19 Meet Dr. Matthew Klein from PTC Therapeutics and learn about navigating clinical trials and COVID-19

]]> full 14 false Meet Dr. Matthew Klein from PTC Therapeutics and learn about navigating clinical trials and COVID-19

]]> 00:46:16 <![CDATA[Service Dogs...A Man's Best Friend]]> Thu, 18 Feb 2021 01:44:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/service-dogsa-man39s-best-friend https://energy-in-action-by-mitoaction.castos.com/episodes/service-dogsa-man39s-best-friend Learn about service dogs with Can Do Canines and hear about their upcoming event, The Fetching Ball.

]]> full 13 false Learn about service dogs with Can Do Canines and hear about their upcoming event, The Fetching Ball.

]]> 00:32:07 <![CDATA[Owning My Story...The DadVocate]]> Sun, 14 Feb 2021 23:35:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/owning-my-storythe-dadvocate https://energy-in-action-by-mitoaction.castos.com/episodes/owning-my-storythe-dadvocate Meet Rare Disease Dad, Adam Johnson!

]]> full 12 false Meet Rare Disease Dad, Adam Johnson!

]]> 00:44:01 <![CDATA[No One Fights Alone....A Family's Journey with Mito!]]> Sun, 14 Feb 2021 23:17:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/no-one-fights-alonea-family39s-journey-with-mito https://energy-in-action-by-mitoaction.castos.com/episodes/no-one-fights-alonea-family39s-journey-with-mito Meet mito warrior and mom, Amanda Butler and her 2 children Katy & Layton!

]]> full 11 false Meet mito warrior and mom, Amanda Butler and her 2 children Katy & Layton!

]]> 00:48:09 <![CDATA[If You Keep the Patient First, You'll Never Go Wrong]]> Wed, 27 Jan 2021 21:20:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/if-you-keep-the-patient-first-you39ll-never-go-wrong https://energy-in-action-by-mitoaction.castos.com/episodes/if-you-keep-the-patient-first-you39ll-never-go-wrong Meet Laurie & Carla from Zogenix!

]]> full 10 false Meet Laurie & Carla from Zogenix!

]]> 00:33:01 <![CDATA[Life with Frankie...A Mom's Journey with Mito]]> Wed, 20 Jan 2021 20:03:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/life-with-frankiea-mom39s-journey-with-mito https://energy-in-action-by-mitoaction.castos.com/episodes/life-with-frankiea-mom39s-journey-with-mito Meet Sue Leone!

]]> full 9 false Meet Sue Leone!

]]> 00:32:37 <![CDATA[The Positive Power of Peach…A Young Adults Inspiring Journey.]]> Wed, 06 Jan 2021 16:41:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/the-positive-power-of-peacha-young-adults-inspiring-journey-1 https://energy-in-action-by-mitoaction.castos.com/episodes/the-positive-power-of-peacha-young-adults-inspiring-journey-1 Meet Jenevieve Woods!

]]> full 8 false Meet Jenevieve Woods!

]]> 00:33:24 <![CDATA[COVID Preparedness and Building Your Flu Box…Tips to Help You Stay Safe]]> Wed, 06 Jan 2021 01:08:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/covid-preparedness-and-building-your-flu-boxtips-to-help-you-stay-safe-1 https://energy-in-action-by-mitoaction.castos.com/episodes/covid-preparedness-and-building-your-flu-boxtips-to-help-you-stay-safe-1 Meet Erich Fogg!

]]> full 7 false Meet Erich Fogg!

]]> 00:42:52 <![CDATA[MitoSantas – Bringing Smiles to the Faces of Children Affected by Mitochondrial Disease]]> Wed, 06 Jan 2021 00:55:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/mitosantas-bringing-smiles-to-the-faces-of-children-affected-by-mitochondrial-disease-1 https://energy-in-action-by-mitoaction.castos.com/episodes/mitosantas-bringing-smiles-to-the-faces-of-children-affected-by-mitochondrial-disease-1 Learn about our MitoSantas program and meet head Elf – Jennifer Schwartzott!

]]> full 6 false Learn about our MitoSantas program and meet head Elf – Jennifer Schwartzott!

]]> 00:36:12 <![CDATA[The Light at the End of the Tunnel…A Mom’s Journey with MERRF Syndrome]]> Wed, 06 Jan 2021 00:43:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/the-light-at-the-end-of-the-tunnela-moms-journey-with-merrf-syndrome https://energy-in-action-by-mitoaction.castos.com/episodes/the-light-at-the-end-of-the-tunnela-moms-journey-with-merrf-syndrome Meet Jessica Fein!

]]> full 5 false Meet Jessica Fein!

]]> 00:28:55 <![CDATA[Raising Christopher – A Mom’s Journey with LCHAD]]> Wed, 06 Jan 2021 00:13:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/raising-christopher-a-moms-journey-with-lchad https://energy-in-action-by-mitoaction.castos.com/episodes/raising-christopher-a-moms-journey-with-lchad Meet Stephanie Harry!

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]]> 00:41:33 <![CDATA[Finding My Path – A Young Adult’s Journey To Live Beyond His Diagnosis.]]> Tue, 05 Jan 2021 23:57:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/finding-my-path-a-young-adults-journey-to-live-beyond-his-diagnosis https://energy-in-action-by-mitoaction.castos.com/episodes/finding-my-path-a-young-adults-journey-to-live-beyond-his-diagnosis Meet Jordan Kalick and his mom Stacy Kalick!

]]> full 3 false Meet Jordan Kalick and his mom Stacy Kalick!

]]> 00:27:24 <![CDATA[Trying Not To Run Out Of Gas - A Young Adult's Journey with LCHAD and How She Continues to March Forward.]]> Tue, 05 Jan 2021 22:26:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/trying-not-to-run-out-of-gas-a-young-adult39s-journey-with-lchad-and-how-she-continues-to-march-forward-1 https://energy-in-action-by-mitoaction.castos.com/episodes/trying-not-to-run-out-of-gas-a-young-adult39s-journey-with-lchad-and-how-she-continues-to-march-forward-1 Meet Alex Salser and learn about her journey with LCHAD!

]]> full 2 false Meet Alex Salser and learn about her journey with LCHAD!

]]> 00:15:03 <![CDATA[Energy in Action Launch]]> Tue, 05 Jan 2021 22:13:00 +0000 MitoAction https://energy-in-action-by-mitoaction.castos.com/podcasts/18538/episodes/energy-in-action-launch-1 https://energy-in-action-by-mitoaction.castos.com/episodes/energy-in-action-launch-1 Join us for our new podcast series, Energy In Action. Energy in Action will consist of converasations with patients, families, researchers and thought leaders in the mitochondrial disease communities. These podcasts will give you a glimpse into the lives of families affected by mitochondrial disease and the latest in clinical trials, diagnosis, research and the advancement of therapies. 
 
]]> full 1 false Join us for our new podcast series, Energy In Action. Energy in Action will consist of converasations with patients, families, researchers and thought leaders in the mitochondrial disease communities. These podcasts will give you a glimpse into the lives of families affected by mitochondrial disease and the latest in clinical trials, diagnosis, research and the advancement of therapies. 
 
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