Shows
Energy in Action by MitoActionRaregivers: Turning Caregiver Burnout into BreakthroughsHost 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, tas...2025-07-1641 minEnergy in Action by MitoActionNavigating CPEO: Talia’s Search for Answers, Care, and CommunityMental-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 co...2025-07-0241 minEnergy in Action by MitoActionHow Tisento is Advancing Mitochondrial ResearchChad 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 th...2025-06-0436 minEnergy in Action by MitoActionThe Fight for Educational Rights: What Mito Families Need to KnowAs 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 guid...2025-05-2137 minEnergy in Action by MitoActionHonoring Sandra Russell Through 15 Years of Derby DayWhen 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 s...2025-04-1629 minEnergy in Action by MitoActionThe Lifesaving Bonds Between Service Dogs and Their Mito WarriorsLiving 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...2025-04-0258 min
Energy in Action by MitoActionFaced with Medical Kidnapping: Skyler’s StoryAt 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 b...2025-03-191h 00
Energy in Action by MitoActionMitochondrial Shifts: A Conversation with Genetic Counselor Devin ShumanIn 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 th...2025-03-0539 min
Energy in Action by MitoActionThe Superhero Project’s Mission to Empower KidsIn 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 become...2025-02-1940 min
Energy in Action by MitoActionFrom Diagnosis to Dalia’s Wish: A Loving Family's Journey with MitoIn 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 Ki...2025-02-0541 min
Energy in Action by MitoActionRaising Warriors: A Mother’s Journey with VLCADIn 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...2025-01-2231 min
Energy in Action by MitoActionFrom Nurse to Advocate: Tania’s Mito ExperienceIn 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 as...2025-01-0837 minEnergy in Action by MitoActionDateability: A Dating App for the Disability and Chronic Illness CommunityIn 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, au...2024-12-1832 min
Energy in Action by MitoActionA 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 jo...2024-12-0451 min
Energy in Action by MitoActionOur Space: Building Community for Young Adults with Mitochondrial DiseaseIn 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...2024-11-2015 min
Energy in Action by MitoActionSharickah - Mito Mom WarriorENERGY 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. Afte...2024-10-2338 min
Energy in Action by MitoActionDaily Living AidsENERGY 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 peop...2024-10-0227 min
Energy in Action by MitoActionRare Disease In the RoomENERGY 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 hav...2024-09-1838 min
Energy in Action by MitoActionRare SistersENERGY 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 dise...2024-09-0432 min
Energy in Action by MitoActionNutritionally Aware - Boosting Energy with the Foods You EatENERGY 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 chi...2024-08-2138 min
Energy in Action by MitoActionBeing A Mother and Physician and Struggling with MitoENERGY 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 d...2024-08-0735 min
Energy in Action by MitoActionDr. Vockley's Journey in Mitochondrial Disease CareENERGY 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 ca...2024-07-0326 min
Energy in Action by MitoActionCegat Genetic OpportunitiesENERGY 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 seq...2024-06-1932 min
Energy in Action by MitoActionChemistry RXENERGY 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...2024-06-0534 min
Energy in Action by MitoActionMito ArtisansENERGY 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...2024-05-1518 min
Energy in Action by MitoActionBreathtakingENERGY 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 a...2024-05-0133 min
Energy in Action by MitoActionAt College with Mitochondrial DiseaseENERGY 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 c...2024-04-1740 min
Energy in Action by MitoActionMo's Personal JourneyENERGY 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 ran...2024-04-0323 min
Energy in Action by MitoActionAngel Flight New EnglandENERGY 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 com...2024-03-2731 min
Energy in Action by MitoActionMedical Marijuana for Mitochindrial DiseaseENERGY 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...2024-03-0628 min
Energy in Action by MitoActionCourageous Parents NetworkENERGY 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...2024-02-2130 min
Energy in Action by MitoActionMarcy Young - Living with CPEOENERGY 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 me...2024-02-1744 min
Energy in Action by MitoActionSelf Care for YOUENERGY 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...2024-02-0739 min
Energy in Action by MitoActionAdvocate for YOUENERGY 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 Cushi...2024-01-1732 min
Energy in Action by MitoActionThe Passionate Life of JosieENERGY 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 worke...2024-01-1037 min
Energy in Action by MitoActionLHON CollectiveENERGY 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, the...2023-12-1334 min
Energy in Action by MitoActionMito Quilts of HopeENERGY 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...2023-11-2937 min
Energy in Action by MitoActionIntroducing Positively Walking with Mito PodcastENERGY 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 feel...2023-11-1525 min
Energy in Action by MitoActionChamps FoundationENERGY 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 l...2023-10-1133 min
Energy in Action by MitoActionNavigating School for Our KiddosENERGY 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 expe...2023-09-0630 min
Energy in Action by MitoActionPatient 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 lear...2023-08-1745 min
Energy in Action by MitoActionHailee The Mito WarriorENERGY 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...2023-08-0926 min
Energy in Action by MitoActionJeremiah Gracen TK2D WarriorENERGY 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 lac...2023-08-0232 min
Energy in Action by MitoActionShades of Grief with Dr. KendallENERGY 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 you...2023-07-1026 min
Energy in Action by MitoActionFighting Chronic Pain with the NeubieENERGY 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, mus...2023-06-1436 min
Energy in Action by MitoActionMinds in MotionENERGY 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 speci...2023-06-0732 min
Energy in Action by MitoActionA Painful IdentityPARENTS 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...2023-05-1736 min
Energy in Action by MitoActionMonica and John Cline - Forever Gift of Compassion - Live Like JoJoENERGY 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 fou...2023-04-1939 min
Energy in Action by MitoActionDr. Neena Nizar - Share Your #RareDiseaseTruth & Give Love A ChancePARENTS 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...2023-02-1543 min
Energy in Action by MitoActionDalia’s Wish Makes Dreams Come True for the Del Forno FamilyENERGY 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...2023-02-0827 min
Energy in Action by MitoActionThe Navigation ProjectENERGY 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...2022-12-0744 min
Energy in Action by MitoActionGood Grief and the HolidaysENERGY 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 say...2022-11-2342 min
Energy in Action by MitoActionEpisode 069 - Give Kids the World with Justin KiserENERGY 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...2022-11-0241 min
Energy in Action by MitoActionWhat Is It Like Being a Research Patient with UDN - Ted Will Tell YouENERGY 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 rar...2022-10-1230 min
Energy in Action by MitoActionAlex the Great and LCHADENERGY 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 c...2022-10-0525 min
Energy in Action by MitoActionMeet Devin the Genetic Counselor and Mito PatientENERGY 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...2022-09-0732 min
Energy in Action by MitoActionJacob and CPEO PlusENERGY 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 y...2022-08-1021 min
Energy in Action by MitoActionMeet the BartlesENERGY 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 s...2022-08-0339 min
Energy in Action by MitoActionOwning My Story
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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...2022-07-2028 min
Energy in Action by MitoActionLife with Leigh'sENERGY 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 turnin...2022-07-1330 min
Energy in Action by MitoActionTJ StrongENERGY 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 thri...2022-07-0628 min
MitoAction Expert Series2014 Mito Awareness RallyWe had a wonderful Awareness Rally on Friday, Sept. 5, featuring people who are doing amazing things to raise awareness about mitochondrial disease.
Each speaker brought great ideas to the table and truly demonstrated the diverse ways we can raise awareness in our communities. We want you to get excited and inspired about raising awareness.
Below, you will find some helpful links and ideas from our speakers. Let's take action to improve the lives of patients and families with mitochondrial disease!
Kristi Wees' blog, Baby Food Steps (and her Mito Minutes)
Kristi's...2022-06-231h 28MitoAction Expert SeriesStealth BT Mitochondrial Myopathy TrialJoin us with Stealth BioTherapeutics CEO Travis Wilson and others from the Stealth BT team for a live update from Stealth BT (click here to check out their website), information about Bendavia, and details about StealthBioTherapeutics' 2015 mitochondrial myopathy clinical trial.
A Q&A opportunity is included in this important discussion. Parents, patients and families - please join us!
This special teleconference/webinar is offered in collaboration by the UMDF and MitoAction.
For more information about the Stealth Mitochondrial Myopathy Trial, please call the trial question hotline 1-877-227-5018
Or visit www.clinic...2022-06-2352 minMitoAction Expert SeriesCoping with Mitochondrial Disease - 10/5/2009MitoAction welcomes psychologist Carole Slipowitz PhD and Tufts Metabolism clinic nurse coordinator Maggie Orr RN M.Ed to discuss the challenges of dealing with a diagnosis of mitochondrial disease.
How do you cope with the unpredictable, invisible disease?
Any chronic illness can be overwhelming - for a child, a family, or an adult with the condition. However, due to the unpredictability, complexity of symptoms, and uncertain prognosis, a diagnosis of mitochondrial disease is especially stressful...and exhausting.
About the Speaker
Maggie Orr is the nurse coordinator at the Tufts Medical Center F...2022-06-221h 05MitoAction Expert SeriesMunchausens by Proxy Accusations in Children with Mitochondrial DiseaseThis topic is dramatically important to the parents of children with complex gastrointestinal presentations of mitochondrial disease. MitoAction brings this topic to our Mito community today in response to the increasing number of accusations of child abuse and Munchausen by proxy that have been placed upon many parents of children struggling from the devastating symptoms of mitochondrial disease.
Join us this month as we celebrate "International Mitochondrial Disease Awareness Week" across the globe and join efforts to improve awareness, acceptance and understanding of mitochondrial disease and the impact that the condition has on children and adults.
2022-05-1954 minMitoAction Expert SeriesSpecial Needs Planning - 3/9/09lanning for your future with Mito… a workshop for parents & adult patients
Monthly International Teleconference Outreach
“It feels like each day is all I can handle – how can I possibly plan for the future??”
Living every day with mitochondrial disease as an adult patient or a parent caring for an affected child can be completely consuming and overwhelming. Many of us forget or put off thinking about the future, especially when the future feels so uncertain.
Jack Raycroft joins MitoAction with a compassionate perspective on simple steps you can take today to help e...2022-04-131h 01MitoAction Expert SeriesMitoAction Interview with Stephen - 3/2/09MitoAction Interview with Stephen2022-04-1314 minMitoAction Expert SeriesMitoAction Interview with Jamie Emory - 2/25/09MitoAction Interview with Jamie Emory2022-04-1319 min
Energy in Action by MitoActionYou Never Give Up Hope in Life
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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...2022-04-0839 minEnergy in Action by MitoActionLiving Rare - An Adult's Perspective
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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 d...2022-03-2343 minEnergy in Action by MitoActionLive Life, Dream Big, Be Positive
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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...2022-02-0959 min
Energy in Action by MitoActionEmpowering Parents Nationwide
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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 chil...2022-01-1229 minEnergy in Action by MitoActionSilver 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...2021-12-2228 minEnergy in Action by MitoActionPatient Led Trials
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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 atte...2021-12-0839 minEnergy in Action by MitoActionThe Patient Teacher Program
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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...2021-12-0122 minEnergy in Action by MitoActionThe MitoSantas Program
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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 do...2021-11-1019 min
Energy in Action by MitoActionMeet the Mito Girl
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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...2021-11-0323 min
Energy in Action by MitoActionParents as Rare - Emma and Spencer - The Heart of Parents As Rare
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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 fir...2021-10-2045 minEnergy in Action by MitoActionRNE Annual ConferenceENERGY 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...2021-10-1324 min
Energy in Action by MitoActionTrailer - Parents As RareTRAILER - PARENTS AS RARE
I am Adam Johnson, a dad and rare disease patient advocate, a self-proclaimed Dadvocate. From the onset of symptoms and after the diagnosis of a progressive mitochondrial disease with no treatment or cures, the isolation was almost as excruciating as the symptoms. I felt alone in so many ways, but in particular as a parent. I knew I couldn't be the only person with a rare disease who was trying to raise children, but it felt like I was. Without the community I was seeking, I decided to build it myself. Living life as a...2021-09-2904 minEnergy in Action by MitoActionGiving You the Power to Take Control of Your Healthcare Journey While Moving Mito ResearchMeet 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.2021-07-0252 minEnergy in Action by MitoActionPatients as Partners in Ultragenyx LC-FAOD ResearchJoin 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...2021-05-1240 min
Audio PodcastManaging the Day-to-Day of Mitochondrial DiseaseManaging the Day- to-Day of Mitochondrial Disease, a MitoAction presentation for ThriveRx Day-to-Day Management of Mitochondrial Disease from mitoaction2017-02-171h 28Audio PodcastNORD Public Policy TeamPlease join MitoAction this month for a conversation with the public policy team for the National Organization for Rare Disorders (NORD).2016-03-041h 22Audio PodcastMitochondrial myopathy with Dr. Bruce CohenJoin MitoAction and Dr. Bruch Cohen as we discuss Mitochondrial myopathy.2015-11-201h 29Audio PodcastGetting Involved: Awareness Walk & Events 2015Join Mitoaction as we discuss how to get involved with the Awareness Walk & Events in 2015.2015-06-1338 minAudio PodcastBasics of Estate Planning and Special Needs Trusts with special guest speaker Annette Hines, Esq.Please join MitoAction as we welcome Annette Hines, Esq., founding partner of the Special Needs Law Group of Massachusetts. Ms. Hines will be speaking on the basics of estate planning and special needs trusts laws in the U.S.2015-06-021h 07Audio PodcastMitoAction: Medical Ethics and Patient Rights (Audio Only)2014-04-121h 37Audio PodcastEPI-743 Leighs Syndrome Trial Update April 2013Join MitoAction for An update from Edison Pharma on the Development of EPI-7432013-04-081h 30Audio PodcastParents, Stress and Coping with Mitochondrial DiseaseJoin MitoAction in discussing how parents can cope with the stress from Mitochondrial disease.2013-02-011h 03Audio PodcastSick Protocol for Mito Patients with Dr. KorsonJoin Mitoaction to discuss sick protocols for Mito patients with Dr. Korson.2012-12-071h 02Audio PodcastExercise and Physical TherapyDiscuss exercise and physical therapy for children, teens and adults with mitochondrial disease with MitoAction and Kimberly Serra.2012-11-051h 06Audio PodcastGenetics, Genomics and Mitochondrial DNA TestingJoin MitoAction and Dr. Richard Boles from Children's Hospital Los Angeles and Courtagen Life Sciences, Inc to discuss the following questions: What is genomic sequencing and how does it change testing for mitochondrial disorders?, Is NextGen testing appropriate for all people with suspected mitochondrial disease?, How can DNA sequencing change information available about family inheritance of mitochondrial diseases?, Do advances in genomic sequencing impact treatment options for Mito patients?2012-08-031h 11Audio PodcastMito, Autism and Cerebral Folate DeficiencyJoin MitoAction this month with Dr. Richard Frye, MD PhD, Director of Autism Research and Associate Professor of Pediatrics at Arkansas Children's Hospital2012-06-011h 05Audio Podcast2012 Mito Town Meeting2012 Mito Town Meeting with MitoAction members discussing activities, events and volunteer opportunities for 2012.2012-01-061h 25Audio PodcastImmunodeficiency Disorders and Mitochondrial DiseaseJoin MitoAction to discuss Immunodeficiency Disorders and Mitochondrial Disease with Dr. Susan Pacheco from Memorial Hermann Texas Medical Center Department of Pediatric Allergy and Immunology2011-09-0252 minAudio PodcastSchool and IEP advice for kidsSchool and IEP advice for kids with Mito-Autism with Kirsten Casale, MitoAction Educational Advocate.2011-06-1521 minAudio PodcastSpecial needs planning workshop with Jack RaycroftMitoAction welcomes Jack Raycroft for a discussion on special needs planning. MitoAction meeting March 6 2009.2009-03-091h 01Audio PodcastMitoAction Interview with StephenMitoAction interview with Stephen.2009-03-0214 minAudio PodcastMitoaction Interview with Jamie EmoryA MitoAction interview with Jamie Emory.2009-02-2519 min