Energy in Action by MitoAction

For people living with mitochondrial disease, sleep is not just rest. It is part of how the body restores, rebuilds, and prepares for the next day.  In this episode of Energy in Action, Marcy Young welcomes back Dr. Mark for a practical and deeply informative conversation about sleep, fatigue, and mitochondrial health. Dr. Mark explains why sleep is so important for the body’s repair systems, how circadian rhythm connects to mitochondrial function, and why poor sleep can have such a noticeable impact on energy, pain, focus, and overall well-being. Marcy and Dr. Mark also talk through the everyday factors that can help or hurt sleep, from caffeine, screen time, alcohol, late meals, and exercise timing to pillows, mattresses, light, sound, naps, melatonin, sleep apnea, restless leg syndrome, and sleep tracking devices. For anyone in the mito community who struggles to fall asleep, stay asleep, or wake up feeling rested, this episode offers clear, realistic guidance on what may be worth adjusting and when to seek medical support. 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

Mike Aichenbaum, founder of Hosts for Hospitals, turned his own battle with leukemia into a mission that has now supported over 4,500 patient families traveling to Philadelphia for care. Joined by one of the organization’s hosts, Rebecca Flanner, this episode highlights a simple but powerful idea: placing families in real homes—not hotels—during some of the most stressful moments of their lives. They share how the organization works, who qualifies, and why something as small as a quiet, welcoming place to stay can completely change a family’s experience during treatment. From emotional patient stories to the logistics of matching hosts with families, this conversation sheds light on a resource that removes both financial strain and emotional isolation. If you or someone you know travels for medical care, this is an episode worth knowing about. Resources & Ways to Connect Hosts for Hospitals Website: Home - Hosts for Hospitals Visit MitoAction’s Website: Homepage - MitoAction Follow on Facebook: Mitoaction Follow on X (Twitter): MitoAction (@MitoAction) on X Follow on Instagram: MitoAction (@mitoaction) • Instagram profile Connect on LinkedIn: https://www.linkedin.com/company/mitoaction

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 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

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 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

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 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

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

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

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

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 ConnectLearn More About MitoActionVisit MitoAction’s Website – https://www.mitoaction.orgFollow on Facebook – https://www.facebook.com/mitoactionFollow on X (Twitter) – https://twitter.com/mitoactionFollow on Instagram – https://www.instagram.com/mitoactionConnect on LinkedIn – https://www.linkedin.com/company/mitoaction

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 ConnectVisit MitoAction’s Website – https://www.mitoaction.orgFollow on Facebook – https://www.facebook.com/mitoactionFollow on X (Twitter) – https://twitter.com/mitoactionFollow on Instagram – https://www.instagram.com/mitoactionConnect on LinkedIn – https://www.linkedin.com/company/mitoaction

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 MitoActionVisit 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

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

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

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  

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  

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 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

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.orgFollow on Facebook – https://www.facebook.com/mitoactionFollow on X (Twitter) – https://twitter.com/mitoactionFollow on Instagram – https://www.instagram.com/mitoactionConnect on LinkedIn – https://www.linkedin.com/company/mitoaction

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 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

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 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  

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 Visit the website – https://raregivers.global Download the Emotional Journey Map & Guidebook – https://raregivers.global/resources Watch Cristol’s TEDx Talk – https://www.youtube.com/watch?v=fJNLIlkrwTw&t=11s Follow Raregivers on: • Facebook – https://www.facebook.com/raregivers.global  • X (Twitter) – https://twitter.com/Raregivers  • Instagram – https://www.instagram.com/raregivers.global • LinkedIn – https://www.linkedin.com/company/raregivers • YouTube – https://www.youtube.com/@RareGivers 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

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 MitoAction – education, support groups and weekly “CPEO Corner” calls https://www.mitoaction.org https://www.facebook.com/mitoaction https://twitter.com/mitoaction https://www.instagram.com/mitoaction https://www.linkedin.com/company/mitoaction ACE (Adverse Childhood Experiences) Information & Self-Quiz https://www.cdc.gov/violenceprevention/aces Book Mentioned: When the Body Says No by Dr. Gabor Maté https://gabormate.com/book/when-the-body-says-no

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  

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: Visit TisentoTX.com Search for the PRIZM study on ClinicalTrials.gov Stay Connected with MitoAction: Visit MitoAction’s Website Follow on Facebook Follow on Twitter Follow on Instagram Connect on LinkedIn

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: Council for Exceptional Children Website Learn more about MitoAction: Visit MitoAction’s Website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn

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 Visit A Better Pet’s Website Learn more about MitoAction: Website Facebook Instagram LinkedIn

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: Visit MitoAction’s Website Learn more about Derby Day Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn  

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

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

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 Visit MitoAction’s website – https://www.mitoaction.org/ Follow MitoAction on Facebook – MitoAction Facebook Follow MitoAction on Twitter – MitoAction Twitter Follow MitoAction on Instagram – MitoAction Instagram Connect with MitoAction on LinkedIn – MitoAction LinkedIn

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 Sign Up Your Child for a Superhero Poster (Free Service): The Superhero Project Connect with MitoAction Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn

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 Learn More About Dalia's Wish Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn

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 Meg's Podcast Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn 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

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: Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn

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: Create a profile at Dateability Download the app on Apple or Android Follow Dateability on Instagram: @DateabilityApp Explore Dateability on YouTube for tutorials and more Resources and Ways to Connect with MitoAction: Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn

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: J.B. McGee’s Letter to Congress on Mitochondrial Disease Purchase Sports Impossible on Amazon Resources and Ways to Connect with MitoAction: Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn 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!

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: Learn more about Our Space support calls Visit MitoAction’s website Follow MitoAction on Facebook Follow MitoAction on Twitter Follow MitoAction on Instagram Connect with MitoAction on LinkedIn 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.

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  

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  

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:/...

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  

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

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

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...

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  

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  

ENERGY IN ACTION - EPISODE 111 Chemistry Rx Jonathan Mordis, Houry Lepedjian and Jennifer Lundy join me from Chemistry Rx. As experts in the preparation of customized medications for patients with rare disorders, they have expertise in compounding formulations for Mitochondrial Disease and they join me for a discussion about everything compounding. EPISODE HIGHLIGHTS What is a compounding pharmacy? When you utilize a retail pharmacy, you have access to commercially available medications with standardized dosages that cater to most patients. A compounding pharmacy has the opportunity to create unique doses and dosage forms for different patients where a one-size-fits-most approach doesn't work for treatment. As a compounding pharmacy, we have access to the active ingredients in medications and put them into differing doses and forms for a range of patients and diseases. Why would a mito patient use a compounding pharmacy? When it comes to mito cocktails, everyone's body is different and as it relates to mitochondrial disease and metabolic conditions, being able to individualize treatments is key to treating these conditions. It's crucial to customize mito cocktails to each patient's clinical genotype and phenotype- the way their genes present in genetic testing, physically and clinically. Different mutations require unique combinations and amounts of the ingredients that go into a mito cocktails and they all work together to compensate for a lack of specific metabolites, which is generally in a higher dose than what's available over the counter. How does a patient get started if they want to utilize compounding services through Chemistry Rx? The prescriber will send the prescription to us and a nurse from our clinical team will reach out to the patient to let them know we received it and we're working on the authorization process. They'll gather information about insurance, medications, dietary restrictions and any personal preferences we should take into consideration. Throughout the process, we welcome patients to reach out about any part of the process, including insurance authorizations and claim appeals. Once a mito cocktail has been customized for a patient, it will be shipped overnight on ice as frequently as needed, before the last dose is complete. LINKS & RESOURCES MENTIONED Chemistry Rx https://www.chemistryrx.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

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  

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

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