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

ENERGY IN ACTION - EPISODE 107 Mo's Personal Journey   Mo has Maternally Inherited Diabetes and Deafness (MIDD), caused by a mutation in his mitochondrial DNA. Mo is married, in his 30's with two children and he joins me to tell his story and to share his diagnostic journey.   EPISODE HIGHLIGHTS   Where did your diagnostic journey begin? I first noticed that I was struggling to hear about the age of 26, and had the standard hearing test done, which revealed significant hearing loss in a high-frequency range. I got hearing aids to help improve my hearing ability. About six months later, I learned my sugar was high at a routine physical and I was prescribed medication for pre-diabetes. I met with a geneticist and an endocrinologist and was later diagnosed with mito 11 years later, which explained the existence of two separate health issues.    How do you deal with hearing loss in your day-to-day? As advanced as hearing aids are, hearing is always on my mind, from worrying about my batteries lasting to hearing in certain instances. When my wife isn't home, I worry about not hearing my children in another room, especially overnight when I'm not able to hear without my hearing aids.   How transparent are you with your children about your diagnosis? My daughters are 5 and 7 and they know I have challenges, but they're too young to understand all the specifics. I use a CGM, which is a monitor in my arm, and we call it a sugar button. They know that when my sugar is low, my sugar button will beep, and they like to let me know when it sounds. They also know I have a gross medicine, my mito cocktail. And they know about my hearing aids and that if I don't have my ears in, they have to be really loud and talk right into my ear.   Are there additional MIDD symptoms that you don't experience? It's been a challenge to find other people like me. I have connected with people through MitoAction, but I'm the only one with my condition. I haven't had a drastic progression over the years, so it's hard to say what will change in the future.  CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 106 Angel Flight New England   Kirk Walters and Larry Camerlin of Angel Flight New England are here to share about the organization, how they can assist patients who need to travel for medical care and the other resources they assist with.   EPISODE HIGHLIGHTS   What is Angel Flight New England's mission? We are a nonprofit organization with a mission of flying people, free of charge, for medical care. We carry out our mission with the help of 450 volunteer pilots, our commercial airline partners— Jet Blue and Cape Air, dedicated staff and generous donors. Through the support we receive, we ensure no one is deprived of life-saving medical care. We want to be part of the treatment team, bringing people hope, letting them know they're cared for and embraced whether they take one flight or one thousand flights with us.    What if someone is located outside of New England? We have pilot organizations throughout the United States, so if we can't arrange a flight, we connect with our partners and turn to our other resources. Through a pharmaceutical partner in the rare disease community, we have been able to provide international service.    What resources do people have when they arrive at their destination? We rely on Earth Angels— our ground crew. Where we already have volunteers available, we arrange for them to meet patients at the airport and drive them to the medical facility. If we don't have a local volunteer available, we will assist them with lining up ground transportation. They can connect with our mission flight coordinators 24 hours a day.  LINKS & RESOURCES MENTIONED Call Angel Flight New England 800-549-9980 Angel Flight New England Website https://www.angelflightne.org/ Volunteer for Angel Flight New England https://www.angelflightne.org/Volunteer-Opportunities/ Make a donation to Angel Flight New England https://www.angelflightne.org/give-free-medical-transport/ CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mi

ENERGY IN ACTION - EPISODE 105 Medical Marijuana for Mitochondrial Disease   Dr. Fran Kendall is a Clinical Biochemical Geneticist and Founder of VMP Genetics. She is also an Adjunct Assistant Professor at the University of Georgia and authored the book Shades of Grief: Echoes of Hope from the Darkness. Dr. Kendall shares her insight and knowledge on the topic of medical marijuana and how it can be used to aid in medical issues.   EPISODE HIGHLIGHTS What is the history of using medical marijuana? Marijuana was brought to North America in the early 1600's. Marijuana was known for its medicinal value until 1952 when the government became criminalizing the use of marijuana, resulting in a negative perception of marijuana. In 1996 California legalized the use of medical marijuana and in 2012 Colorado legalized the use of medical and recreational marijuana. More and more states have moved towards legalizing marijuana use, but it remains banned in Wyoming, Kansas, Idaho and South Carolina. The biggest problem we face is, because of criminalization in the past, cannabis is still listed as a schedule 1 substance— a chemical or drug that has no medicinal value, is highly addictive and linked to abuse.   What health benefits does marijuana have for mitochondrial disease patients? Marijuana was first used in the mitochondrial disease community for treating seizures, often having improved control or complete stabilization, allowing patients to reduce anticonvulsant medications, which have a lot of negative side effects. We've seen a reduction of anxiety and depression, improved focus and concentration, and better pain management.    How do you choose what product to use? In some states, there aren't product options, but other states, like California or Colorado have a lot of options. You will need to educate yourself about different products. You may have to do some level of trial and error to find what works best for you.   LINKS & RESOURCES MENTIONED Shades of Grief: Echoes of Hope from the Darkness https://rosedogbookstore.com/shades-of-grief-echoes-of-hope-from-the-darkness/ VMP Genetics https://www.vmpgenetics.com/ Realm of Caring Foundation https://realmofcaring.org/ Georgia's Hope https://georgiashope.com/   CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction

ENERGY IN ACTION - EPISODE 104 Courageous Parents Network   Blyth Lord and Liz Morris join me from the Courageous Parents Network, an organization that offers a lot of resources for parents and caretakers, from diagnosis to losing a child and every stage in between— it's like a warm hug!   EPISODE HIGHLIGHTS What is Courageous Parents Network (CPN)? Courageous Parents Network is a national non-profit organization that orients and empowers parents and others caring for children with serious medical conditions, by providing resources and tools that reflect the experience and perspective of other families and clinicians. We do this through producing and curating digital resources, available on our website and through live programming. CPN was inspired through my experience as mother of a child with a rare genetic condition who died shortly after her second birthday. A lot of what informed the creation of CPN was through my lived experience, but everything it has become is because of the network of parents and clinicians who have contributed their experiences and perspectives.   Can you share more about CPN's live programming? We started with only a digital platform of professionally produced videos, audio stories, parent-generated blogs and guides, but we realized the need to bring families together in a live setting. Each live session features a parent and clinician expert who leads a talk on a resonant issue such as supporting siblings, dyadic couples coping and patient decision-making. If you aren't able to join a live event, most recordings are available on our website.   Liz, how did you become involved with CPN? My son Colson was born in 2016 after a normal pregnancy, but shortly after his birth, he had an irregular newborn screening and was having difficulty eating and maintaining his body temperature. He was diagnosed with mitochondrial disease at four months old through genetic testing. His disease progressed rapidly in the first year and my husband and I grappled with what our son's life would look like. When Colson was seven months old, we began palliative care and the palliative care team connected me with CPN. I spent time on the CPN website and felt a sense of hope and I felt validated, knowing I could navigate the uncertain future.    What should people know about palliative care? A palliative care clinician will provide anticipatory guidance to let caregivers know what the likely experience will be over the trajectory of the illness and provide considerations for care. Palliative care is a system for support, a place to talk about difficult things, a system that allows for choice and comfort management. Palliative care can potentially begin at the time of diagnosis and extend over years, where hospice care is provided at the end of life.    What resources does CPN offer parents who have lost a child? We have a lot of content for bereaved parents, including interviews with other parents who have lost a child, whether it was sudden or anticipated, where they reflect on before and after their child's passing. We cover topics such as identity as a parent after your child has died, supporting siblings after a child dies and taking care of yourself after your child has died. We also offer a lot of content for parents who are anticipating their child's end of life.     LINKS & RESOURCES MENTIONED Courageous parents Network Website https://courageousparentsnetwork.org/ Join CPN https://courageousparentsnetwork.org/signup/ NeuroJourney Website https://neurojourney.courageousparentsnetwork.org/     CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Tw

ENERGY IN ACTION - EPISODE 078 Marcy Young - Living with CPEO   Marcie Young is a young adult who is impacted by CPEO and lives near Cleveland, Ohio.    EPISODE HIGHLIGHTS   Can you share about your diagnosis journey? My whole life, my mom seemed off and it continued to get worse as I got older. She was diagnosed with muscular dystrophy, but I felt like more digging needed to be done. When I graduated college, my mom had suffered a lot of physical setbacks, so I met with a neurologist at the Cleveland Clinic and described what my mom was experiencing. I was diagnosed with CPEO and my neurologist worked with my mom's doctor to also match her bloodwork.    As your mom progressed, what did that look like and what were some of the symptoms?  My mom had a pretty complex case, her eyes didn't move at all- they were completely stationary. She was very fatigued and had difficulty walking.    What was that like for you, knowing the challenges that your mom was facing, and knowing what you would potentially also experience? It is very hard to not take to heart what a difficult time my mom had, and I was very irritable in my twenties. I had a lot of fear because I had a front seat to what could potentially happen to me. We had beautiful moments in our last couple of years together, but we had some really tough ones.    How do you manage a marriage given the impact that having a rare disease has on a partner? I'm very lucky to have such an amazing husband. We've made some modifications around our house to help me live more independently, and a lot of those have been his ideas. He's not just my husband, he's my best friend and my teammate in this, and he was with me as my mom had her largest setbacks.    Did your diagnosis play a role in your decision to have kids?  We met with a specialist who talked to us about an opportunity to take my embryos to a lab and ensure that my child would not have CPEO. We talked a lot about it and we chose not to go in that direction and to have children naturally. Fortunately I was able to carry a child two times. My kids are so young, they have not yet been tested.    Tell us a little bit about what your experience has been with clinical trials? It's not a question of whether I will or won't participate. The first trial was a shot every day for 14 months until the trial ended, and it was painful. The trial that I'm currently on is three pills a day, so it's not as intrusive.    What would you say to a patient who is hesitant about participating in a clinical? I would want people to think about it from the opposite direction. If the generation before us were to have had the opportunities to be in these trials, and if they didn't take advantage of it and we're suffering because of a lack of interest from them, let's try to not create that situation for the generation after us. The trials that we're doing right now, depending on your age and symptom severity, could still very well help us.  CONNECT WITH MITOACTION Website https://www.mitoaction.org/

ENERGY IN ACTION - EPISODE 103 Self Care for YOU   Author of After the Shock and International Resilience and Crisis Recovery Speaker, Becky Sansbury, has provided so much support for the rare disease community. She joins the podcast to share her best self-care advice with our listeners.    EPISODE HIGHLIGHTS   What inspired the work you do? Decades ago I was affected by a family crisis and realized I didn't have resilience. I received help along the way and taught me that help is available and that I could help myself. I served as a hospice Chaplain and I realized through that work that quality of life can mean different things, that it's not defined by timeframe, and that it spreads beyond the person who is ill or in crisis, extending to the caregivers. Over the years, that principle has guided my own life.    What are the risks of not practicing self-care? Not caring for yourself leads to decreased effectiveness, health and damaged relationships. Caregivers are also patients, whether or not you have a diagnosis, when you don't care for yourself, you run the risk of depleting energy, vitality and coping ability. Taking care of yourself is one of the most unselfish thing you can do for yourself and anyone who is depending on you.     Can you introduce your concept of The Four C's of Stability? Thinking about a car, there are 4 wheels (the four c's) required to move the car down a road. The Four C's of Stability include: comfort, control, community and connection. One of the ways we can feel less overwhelmed is to be aware of when any of your tires may need air. All of the wheels are affected by the components of the other wheels because they roll together.   What about your idea for creating a recipe?  Thinking about a pie, crisis or a chronic condition may prevent you from having the whole pie. But you can break it down, sliver by sliver. The recipe concept says that each sliver is something you can do today to feel comforted, in control, supported by community or connected to resources. While the recipe may change, when you put the concept into practice, it's like a vacation from whatever may be winding you down.    LINKS & RESOURCES MENTIONED After the Shock https://www.amazon.com/After-Shock-Getting-Resilience-Crisis/dp/0692447571 CaringBridge https://www.caringbridge.org/   CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://w ww.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 102 Advocate for YOU   Jen Owen is a mito patient and mito mom, joining me to share her personal journey having mito, about her diagnosis journey, her family and how to best advocate for yourself when you're affected by health issues.      EPISODE HIGHLIGHTS   Can you share about your mitochondrial disease journey? I experienced 15 years or more of misdiagnosis of more familiar conditions. Because doctors were treating something I didn't have, I now have other medical issues, like Cushing disease, brought on by the use of steroids. I don't want my kids to go through what I have and fight for the right diagnosis, medical care, medications and treatments they need. When I was diagnosed with mitochondrial disease, my daughter was experiencing parallel symptoms. After a surgery, she had complications from anesthesia and the doctors and I was later hospitalized with elevated lactic acid levels. My daughter also had high lactic acid levels and we realized that what we were experiencing was likely the same cause.    What is the importance of your kids advocating for themselves? It's important to me that my kids know how to advocate for themselves. I want to instill in my kids that this is a fight they'll have the rest of their lives and they have to advocate for their healthcare and take ownership of their own healthcare and well-being. I also stress the importance of pacing themselves and managing their energy and activities. I try to teach my kids shortcuts in their day-to-day lives because they'll need the knowledge one day and I had to learn some of these things the hard way.    Can you tell us about Buddy Ball? Our family is passionate about softball and Buddy Ball is a program where kids of any level or disability are able to play on a team. It doesn't matter if the player is in a wheelchair, is on the spectrum, has a j-tube or port, or if they're verbal or non-verbal. Anyone can play and no one is excluded. We play one game a week and we don't keep score. We partner each player with a peer, or buddy, that does anything the player can't do on their own. The kids are amazing and such an inspiration.      LINKS & RESOURCES MENTIONED Bambino Buddy-Ball https://tshq.bluesombrero.com/Default.aspx?tabid=2748542 Buddy Ball gives kids with disabilities a chance to play ball in Brooksville https://www.abcactionnews.com/news/region-citrus-hernando/buddy-ball-gives-kids-with-disabilities-a-chance-to-play-ball-in-brooksville Hernando County's Buddy Ball is one step closer to getting mats for players https://ca.sports.yahoo.com/video/hernando-countys-buddy-ball-one-231618451.html Hernando County's Buddy Ball program gets mats to help players https://www.abcactionnews.com/news/region-citrus-hernando/hernando-countys-buddy-ball-program-gets-mats-to-help-players?fbclid=IwAR1PrPHt5krKD5AgXRmkshV2G40FU1Elzlza6wSA-xgiLirkRROgpojSDY8   CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https: //www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 101 The Passionate Life of Josie   Josie van Londen suffers from two interlinked mitochondrial conditions she was diagnosed with as an adult, at the height of her career as an oncologist. Despite her diagnosis and the changes she had to make in her life and career, Josie continues to create meaning in her life in the way she knows best— helping those living and beating cancer.   EPISODE HIGHLIGHTS   Can you share what your diagnostic journey has been like? I worked as a medical oncologist, treating and caring for newly diagnosed cancer patients. This was important to me and is still a large part of my identity. Over the years, my stamina was less and less without explanation. My energy was compromised at work and I gave up one thing after another. After Covid, I left the hospital on an accelerated course to a wheelchair. Then I started having trouble breathing, sitting up and talking. I scheduled an appointment with a mitochondrial specialist and I received a diagnosis, which helped me better understand the symptoms I had been experiencing for years.   What inspired a career in oncology? I grew up in the Netherlands and they don't have college there. You go straight into the school of the profession you've chosen when you graduate school. I wanted to be in medicine because I was motivated to understand the body and I wanted to interact with other people. I like mysteries and find the work to be interesting. I appreciate the difference you can make in someone's life.    How did you decide when to leave your job as an oncologist? I first took a month off to rest, had discussions with my husband and decide for sure if I wanted to go on disability. Resting didn't help and my mito doctor advised me that genetic testing results revealed my symptoms were only going to get worse. I decided to go on disability with the support of my husband.    What work are you doing today? It was hard to leave my job so abruptly because I didn't have closure with many of my patients. I started looking for new ways that I could be helpful. I volunteer with Cancer Bridges, a facility that supports cancer patients and their families. I also share on my website as I can, writing blogs to empower cancer survivors on their healing journey. and posting on social media.      LINKS & RESOURCES MENTIONED Cancer Survivor MD Website www.cancersurvivormd.org CancerSurvivorMD Facebook https://www.facebook.com/CancerSurvivorMD/ CancerSurvivorMD Instagram https://www.instagram.com/cancersurvivormd/ CancerSurvivorMD TikTok https://www.tiktok.com/@cancersurvivormd CancerSurvivorMD YouTube https://www.youtube.com/@CancerSurvivorMD Cancer Bridges https://cancerbridges.org/     CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn   https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 100 LHON Collective   Lissa Poincenoit and Malinda Marsh are the co-founders of the LHON Collective, created to make the diagnostic and treatment process easier for patients and connect them with supportive communities. They are also both mothers to children living with Leber Hereditary Optic Neuropathy (LHON).   EPISODE HIGHLIGHTS   What is LHON? Leber Hereditary Optic Neuropathy (LHON) is caused by a mutation in the mitochondrial DNA. Symptoms include sudden, severe, painless loss of central vision, usually first in one eye, then within a few months in the other.     How did the quick decline in your son's vision affect his mental health? This is a large part of why we created the LHON Collective. My son was devastated after he was diagnosed in college and went through all the stages of grief as he learned to cope. He had to rediscover passions, his career path changed and he got involved instead in inspirational speaking, giving talks to raise awareness and share his story.    Malinda, how has a sudden onset of symptoms affected your kids? My son finished out the eighth grade advocating for himself with the help and guidance of a teacher for the visually impaired. She consulted his teachers and provided academic support. He took an interest in running, so we found a coach that specialized in visually impaired runners. He joined a run club and this year he has joined the cross-country team as the first visually impaired person in the history of the school, which he's proud of.    Can you tell us about the LHON Collective and your goals for the organization? LHON Collective is an evolution of the work that's been going on for over 15 years. We intend to work collectively with everyone who has an interest in advancing the treatment of LHON and work globally. Our LHON Facebook groups connect people around the world, sharing important information and empowering them based on where they are demographically or how they are affected. We also host Zoom meetings and conferences to further connect people and drive and advance research forward.      LINKS & RESOURCES MENTIONED LHON Website https://www.lhon.org/ LHON Communities https://www.lhon.org/community RareX Medical Registry https://rare-x.org/ LHON - Data Collection Program https://lhon.rare-x.org/     CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn htt ps://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 099 Mito Quilts of Hope   Christine Knox is a mito patient and the founder of the Mito Quilts of Hope project.    EPISODE HIGHLIGHTS   How were you introduced to the mito community? My parents noticed when I was young that I would fall asleep anywhere, I didn't gain weight easily and I didn't have the same level of energy as other kids. It wasn't until I was an adult that I got sick with the flu and couldn't recover. I saw my doctor, initial testing didn't provide answers, and I was referred to an internal medicine doctor who determined I had mitochondrial disease, later confirmed by genetic testing.   What are your biggest day-to-day challenges? Managing expectations of myself and the reality of what I'm able to do. It's a constant juggling act of what needs to get done, what my energy level will allow, and what I have to give up or what trade-offs need to happen to get things done.    Can you tell us about Mito Quilts of Hope? To supplement my income as a student, I worked in a flower shop and discovered I loved being creative. Over the years I worked for other florists, learning along the way, and eventually started my own floral company. When I got sick from mitochondrial disease I had to close the business. I missed having the business and missed being creative. Going through my diagnostic journey, I realized so few people knew about mitochondrial disease. I decided to use Mito Awareness month to launch Mito Quilts of Hope to spread comfort and awareness. I started a website and connected with other quilters to help me make quilts for mito patients. Mito Action and Mito Canada help with the postage to distribute the quilts.    How does someone receive a quilt? Visit my website and register to receive a quilt by answering a few questions. If you're a quilter and you'd like to get involved by making a quilt, you can visit the website to register and all of the quilting information is provided for you online.    CONNECT WITH CHRISTINE Email: christineknox0@gmail.com or christine@mitoquiltsofhope.org Mito Quilts of Hope on Facebook https://www.facebook.com/quilthope   LINKS & RESOURCES MENTIONED Mito Quilts of Hope Website https://www.mitoquiltsofhope.org/ Register to Receive a Quilt https://www.mitoquiltsofhope.org/receive-a-quilt Register to Make a Quilt https://www.mitoquiltsofhope.org/create-a-quilt MitoCanada  https://mitocanada.org/   CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn   https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 098 Introducing Positively Walking with Mito Podcast   Jenevieve Woods and Alexandra Salser join me to share their stories and share about a special positivity project they're doing for the benefit of the mito community.    EPISODE HIGHLIGHTS   Jenevieve, can you tell us about yourself? I have mitochondrial neuropathy ATP deletion with symptoms such as muscle weakness, neuropathy, ataxia and damaged nerves and muscles. My kind of mitochondrial disease affects every cell in my body, so every organ, muscle movement and feeling I experience are in some way affected. Like most members of the mitochondrial community, I also have issues with energy levels.    Alexandra, can you tell us about yourself? I am a college student living with LCHAD, a fatty acid oxidation disorder, which means I don't break down fat to use for energy. I've known about my diagnosis my whole life, so it's been part of every season and every up and down. When it comes to managing my LCHAD as a college student, I work with my body and rest often. I've been given a voice and a story and it's something I enjoy sharing with people.    How did you meet? We connected online initially, fell out of touch and then we were re-introduced through a mutual MitoAction contact. We reconnected and through conversations about our struggles, we came up with an idea to do a positivity project together.    What is the positivity project you're working on together? We will be starting a podcast called Positively Walking with Mito, which is about positivity first and mito second. We want to lead with positivity despite what we're going through. The forum will be loose and we'll let our personality and chemistry lead. We may also do interviews in the future. We will also have a video element on YouTube. CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 097 Champs Foundation   Elizabeth Reynolds is a mom of three children and her oldest, William, has Pearson syndrome, a multi-system disease caused by a deletion in mitochondrial DNA. She is also the Founder of The Champ Foundation, which supports research toward better treatment and a cure for single large-scale mitochondrial deletion syndromes (SLSMDS), like Pearson syndrome.   EPISODE HIGHLIGHTS   How do you keep appointments and records organized and what advice do you have for other parents to stay organized? It’s a learning process. I have done a lot of note-taking and documenting to learn how to stay organized. I've found a routine and a method that works to stay organized and to effectively coordinate and communicate with William's physician care team. You can create a document for yourself to refer to and have doctors sign off on your document at appointments to serve as an extra layer of organizing and validating information.   Can you tell us about the foundation you started? A few weeks after William was diagnosed, we started the foundation with the immediate realization that there wasn't a treatment or cure for Pearson syndrome. We also found there wasn't funding or research focused on Pearson syndrome and we felt we needed to start the foundation with an exclusive focus on our rare, mitochondrial deletion disorder specifically. Our primary goal was fundraising and in 2019 we were awarded the Chan Zuckerberg Rare As One grant, which helped us transform our purpose and goal of funding academic institution research, but also to help other families. We started the Champ Foundation Registry, funded a biorepository at Boston Children's Hospital and a multi-site natural history study to better understand the trajectory of the disorders.   What are the goals for the foundation over the coming years? Our goal is to use the information gathered from the registry and family surveys to show the FDA and other agencies that we are learning outcomes and that clinical trials should be targeted for KSS and Pearson syndrome.    How can a family with a new diagnosis get involved with The Champ Foundation? Lots of families are introduced to us right after receiving a diagnosis, so we have a checklist with a step-by-step process of what to do available on our website. We also recommend families get involved in research, participating in our registry and natural history study. Our foundation can assist with travel costs to participate in the natural history study if that's a barrier for a family.    LINKS & RESOURCES MENTIONED Champ Foundation Registry https://www.thechampfoundation.org/registry.html Newly Diagnosed Checklist https://www.thechampfoundation.org/newly-diagnosed.html Email Elizabeth elizabeth.reynolds@thechampfoundation.org     CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https: //www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 096 Employed with Mito Disease   Bill, Tasia and Nina are all mito warriors navigating employment despite the challenges of the disease. We're having a discussion of how they adjust their work lives to ensure they're not pushing themselves beyond their limits and also caring for themselves.      EPISODE HIGHLIGHTS   Tasia, can you tell us about yourself and the work you do? I'm 31 and I was diagnosed at a young age with fatty oxidation disorder. As a teen I started a clinical trial until it became an FDA-approved medication and it worked well for me. I went to business school and I currently work in research and development as a government contractor. I have a typical desk job that suits my needs. My employer has remained flexible for me to attend appointments and otherwise manage my health.    Bill, can you tell us about yourself and the work you do? I live in Alaska and I have a pathogenic mutation but no final diagnosis yet. I've gone through a lot of genetic testing that revealed my genetic mutation. I work as a commercial diver and I work on bridges, dams, oil platforms and in heavy construction. It's all very physically-exerting work. I've been doing this work for 25 years, but with the health changes I've experienced, I've had to stop going on jobs and in the water. This accelerated my move into an office role and my employer has made a lot of accommodations for me.    Nina, can you tell us about yourself and the work you do? I'm from Florida and about two years ago, I had a sudden onset of symptoms after taking a medication and it took over a year to be diagnosed with POLG2 which is a chronic and progressive condition. I'm currently working part time as a customer service representative and I'm able to work from home. I'm finding it's increasingly difficult to talk and type simultaneously, so I'm working with a vocational rehabilitation program to transition to a more behind-the-scenes role that will better support my health and needs.    Bill, do you feel like fatigue caused by stress affects you more by the end of the day? This has been a struggle for me. To some degree, the demands of an office role are more taxing than a physical role. If I use all my energy at work, I'm affected when I go home because I don't have the energy to do tasks at home. Managing stress and trying not to give everything to my work is a constant balancing act.    Tasia, do you feel any guilt about not being able to produce as much or perform as well at work?   I feel the need to compensate when I'm feeling well, going the extra mile. The next week, I may be functioning at only 75%. I think it's common to feel the need to do more when you can to make up for when you're lacking. I've learned I can't say yes to everything and I need to find balance in the workplace, not allowing my urge to over-compensate get me in trouble.    Nina, have you had any difficult discussions about mitochondrial disease with your boss? I've had a few awkward conversations with employers. I think it's difficult to talk about mitochondrial disease and the impact it has on you because it can be an invisible illness. There's also restrictions about what you can and can't share about accommodations.    What advice do you have for young people at the beginning of their career who will need to navigate the demands of the workforce and their health and wellbeing but want to grow professionally? Widen your possibilities so you can work in a field that interests you, but has a lot of variety in the job options. Understand you're an asset, not a burden. Don't be afraid to ask for what you need to perform your job. Explore alternate ways to partake in your interests

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ENERGY IN ACTION - EPISODE 094 Barth Syndrome - When the Lack of Fair, Equitable and Appropriate Regulatory Review Process Jeopardizes Ultra-Rare Drug Development   Barth Syndrome Foundation Executive Director Emily Milligan, and Director of Family Services & Advocacy, Shelley Bowen join me for a discussion about the latest news surrounding the foundation’s treatment efforts and the families affected by Barth Syndrome. Listeners can help pave the way for future rare and ultra-rare drug development by signing their petition to the FDA and speaking out to local representatives.   EPISODE HIGHLIGHTS   What is Barth Syndrome? It's a rare disease, affecting mostly males, that affects about one of a million individuals. We currently have about 130 people in the United States who have been diagnosed. The symptoms include cardiomyopathy, Neutropenia, low muscle mass and muscle weakness, exercise intolerance and feeding problems. Barth Syndrome is often fatal and there aren't currently any cures for the rare disorder.    Have there been any recent advancements in treatments for Barth Syndrome? There are no FDA-approved therapies for Barth Syndrome. The latest stage development opportunity we have is a drug called Elamipretide. We've been working on this effort for years and we're hoping the FDA will accept a new drug application for this product.   What benefits does Elamipretide offer Barth Syndrome patients? One of the greatest burdens that affects quality of life is overwhelming fatigue. With this drug, we've seen real-world evidence that patients are feeling better and are able to enjoy life with improved energy. We've also seen improved cardiac function.    What determines one research-based drug passing through regulators and one drug not? There's a lot of inconsistency around drugs being reviewed at the FDA and it's frustrating. We have done a lot of work to help the FDA to recognize and appreciate the nuances of the Barth Syndrome community and how ultra-rare it is. Unfortunately, the FDA is asking us to find more patients, but by the definition of ultra-rare, there are no more patients. We are asking for a fair, equitable and fair review by the FDA-- for them to look at the open-label extension data, the natural history comparison data and listen to the patient perspectives which will substantiate real-world claims and results. While the FDA has regulatory flexibility, smaller populations can't conform to the same regulation standards as larger populations.  LINKS AND RESOURCES MENTIONED Barth Syndrome Foundation https://www.barthsyndrome.org/welcome.html Sign the BSF petition for a fair, equitable and appropriate review of elamipretide in Barth syndrome by the FD

ENERGY IN ACTION - EPISODE 093 Navigating School for Our Kiddos   Beth Folcher is a parent and teacher. She joins us to kick off the school year with tips for parents of children with mitochondrial conditions so that we can be the best-informed advocates for our children.    EPISODE HIGHLIGHTS   Can you tell us about your son and your experience with rare disease? My son was born in 2005 and was flagged at newborn screening for having long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD). As a teacher and having experience with children who have complex medical conditions, I knew my son's diagnosis may impact his learning. My son doesn't have a learning deficiency, so he has remained in a typical classroom with some special accommodations. He's now going into his junior year of high school.   What should parents be thinking about going into the school year? If you have a child with a complex medical condition or diagnosis, get your documentation in place, contact the school and ask for a meeting to set up an IEP and/or 504 plan. An Individualized Education Plan (IEP) covers specialized instructions for students with a learning disability can make progress in the classroom. A 504 is a section of the rehabilitation act of 1973 which describes support guidelines for children with a physical or mental impairment. Both an IEP and a 504 plan are legally binding and must be followed by the school district. If your child needs an IEP, it is written first and the 504 plan is written within the IEP.    What do parents need to do throughout the year to maintain plan guidelines? The most important thing is respectful, open communication and partnership between teachers and parents. In elementary school, there are more special snacks, birthday celebrations and field trips that need to be handled. When your child is younger and can't advocate for themselves, there are no stupid questions, so don't be afraid to reach out to teachers and school staff to ask. Give teachers some grace because when the school year begins, they are taking a lot in, learning a lot about each child and building relationships.   How can you best prepare a child who may need a school accommodation? Prepare them to ask questions, communicate their needs and ask for help when they need it. To help them learn to advocate for themselves, you can place a sticker on their ID card that identifies they have an IEP or 504. You can arrange for a signal to communicate to the teachers when something is wrong. Involve your child in school meetings and discussions so they can be part of the discussions and understand the support and accommodations they have.     CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.li nkedin.com/company/mitoaction

PARENTS AS RARE - EPISODE 092 Patient Stories from the FAOD Community - Live from the IMC   I encouraged the FAOD community attending the 2023 Metobolic Conference in Denver, CO to share their stories with me. This is a special, live-recorded episode that features patient stories that paint a beautiful picture of what their journeys have been like and the importance of community.   EPISODE HIGHLIGHTS   Karen Richtman This is my first time attending this conference and I have felt so embraced. I have learned more information about my diagnosis than anyone has ever provided me. I feel so connected to this community and it's truly powerful.    Sylvia Hood-Washington I am an Environmental Epidemiologist & Historian of Science, Technology, Environment and Medicine, and I am an FOAD patient with Carnitine palmitoyltransferase II (CPT II) deficiency. This is my first conference and I have come here as a 64-year old African American woman who has gone my entire life with CPT II deficiency, undiagnosed and untreated. After a long journey of misdiagnosis, I have created a foundation with a goal of helping anyone who is multi-racial to get the information they need to get genetic testing.    Hayley Coble I am a public librarian diagnosed at a young age with MCAD deficiency. As an adult, I've been fortunate to be able to manage my disease. A benefit to being diagnosed early has allowed me to take my prescribed medication and only see my specialist once a year. I feel like my condition has been isolating and I don't know what my future looks like, but I feel lucky to be at the conference to meet all of the people that I have met, even some with MCAD.   Tasia Rechisky I'm a 31-year old (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency) VLCAD patient. I was diagnosed through newborn screening and at about 2 years old, my health stabilized, and I grew up leading a pretty normal life. As a teenager, my medication wasn't working as well and I was less able to keep up with my peers. Today, a lot of my life revolves around managing my health, both mentally and physically. My rare disease experience has led me to talking to people and using my voice for good.   Alex Salser I am 20 years old and I have LCHAD. Unlike through childhood, I experienced energy deficits during adolescence, along with other symptoms of LCHAD. I started a rehabilitation journey that put me at the forefront of my community and I want to serve as inspiration for people to stay positive and keep going, one step at a time.      RESOURCES MENTIONED International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference  https://give.mitoaction.org/event/2023-international-metabolic-conference/e451564   FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad  Instagram @RareDiseaseDad  https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125   CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn   https://www.linkedin.com/company/mitoaction

ENERGY IN ACTION - EPISODE 091 Hailee The Mito Warrior   Hailee is the Ultimate Mito Warrior. She has such a positive attitude, despite the challenges she experiences on a daily basis. She works to create awareness of her mitochondrial disease, and secondary conditions she endures through her videos on YouTube.   EPISODE HIGHLIGHTS   Can you share about your particular mitochondrial disease and your diagnosis journey? I have a disease that's only known to affect me and my mom. I was diagnosed when I was 5 years old. For the first five years of my life, I experienced cyclic vomiting syndrome and I was in and out of the hospital. I also experienced developmental delays and low energy. My parents saw a talk by a doctor who linked cyclic vomiting syndrome to some mitochondrial patients and we scheduled an appointment with him based on other similarities of the disease that I was experiencing. Through muscle biopsy, I was diagnosed with mitochondrial disease and started receiving the mito cocktail and also medication for the cyclic vomiting syndrome. A couple years later, I also did genetic testing which provided more insight.    Who is Hailee outside of your disease and medical challenges? I really enjoy photography and I find it to be fun and therapeutic. I also love escaping to another world through reading and my dog Willow. I enjoy hanging out with friends and family and traveling whenever I'm able. Something that's been healing for me has been working on my YouTube channel where I share all about my life with mito.   What are your goals for your YouTube channel? I vlog my day, even if they are mundane. I share in detail about my illnesses and struggles. I also share about my mental health. I started my channel back at a time when I felt very isolated and now my goal is to use it as a resource for others. I hope my videos help people feel less alone and I hope my videos serve as a source of learning.    What are your goals for the future? I've been in a state of waiting for something to happen medically, taking things one day at a time, but my health is stable right now. I am working on shifting my mindset from day-by-day to the future. One of my goals is to continue to share my story beyond my YouTube channel at speaking engagements and schools to spread awareness. I also hope, if my health permits, that I become a mom one day.    FOLLOW HAILEE YouTube https://www.youtube.com/themitowarrior Instagram https://www.instagram.com/themitowarrior/   CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter

ENERGY IN ACTION - EPISODE 090 Jeremiah Gracen TK2D Warrior   Aneesa is the mom to Jeremiah, a beautiful, wonderful and special boy within our mitochondrial community. Aneesa shares her and Jeremiah's story to inspire others in the community.   EPISODE HIGHLIGHTS   Can you share about Jeremiah's disease and diagnosis journey? Jeremiah has thymidine kinase 2 deficiency (TK2D), categorized under the mitochondrial DNA depletion or deletion syndrome, further classified as a myopathic form because it affects all the muscles in the body due to a lack of energy to function properly. Jeremiah developed a fever and became weak and floppy. He wasn't eating well and was struggling to breathe. We were referred for genetic testing and received a diagnosis really quickly.    What changed when you received a diagnosis? Jeremiah was the youngest patient in the world to be diagnosed, and the earlier the onset, the more progressive the disease. We were notified that there was no treatment and no cure and provided with alternative resources. We reached out to UMDF and we were further connected to additional resources and other families.    What can you share about the clinical trial that Jeremiah is participating in? There's not much I can share, but it's a clinical trial related to his disease and it will be historic. There are currently no treatments available, but I am noticing that Jeremiah is improving, hitting milestones, and I'm sure to document everything along the way. The clinical trial medication in partnership with his quality care seems to be working well.      FOLLOW JEREMIAH Jeremiah Gracen on Facebook https://www.facebook.com/JeremiahGracenTK2DWarrior/ Jeremiah Gracen on Instagram https://www.instagram.com/jeremiahgracentk2dwarrior/?hl=en Jeremiah Gracen on YouTube https://www.youtube.com/c/JeremiahGracenTK2DWarrior Jeremiah Gracen on Tiktok https://www.tiktok.com/@jeremiahgracentk2d     LINKS & RESOURCES MENTIONED Tell Me, Teach Me, Is it TK2D? https://www.amazon.com/Tell-Me-Teach-TK2D/dp/B0C5KNG6WB   Miracle League of Florence County https://miracleleagueofflorencecounty.org/ Camp ADAPTabilities https://www.speciallyabledmiracles.org/     CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ Linke dIn https://www.linkedin.com/company/mitoaction