Energy in Action by MitoAction: Recent Episodes
MitoAction
Energy In Action by MitoAction will consist of conversations with patients, families, researchers and thought leaders in the mitochondrial disease communities. These podcasts will give you a glimpse into the lives of families affected by mitochondrial disease and the latest in clinical trials, diagnosis, research and the advancement of therapies.
If you would like to be a guest or suggest a topic, please email us at info@mitoaction.org.
ENERGY IN ACTION - EPISODE 116
Nutritionally Aware- Boosting Energy with the Foods you Eat
Claire Held is a personal nutrition coach and she joins me to talk about healthy eating to create energy and the foods that are helpful for mitochondrial care. If you have low energy, low muscle tone and fatigue, Claire will share resources and advice for how to improve these challenges.
EPISODE HIGHLIGHTS
What is your health and professional background?
I was born prematurely and in and out of a children's hospital many times with heart failure and kidney failure. Eventually I was diagnosed with LCHADD. In 2009 I went to college, studying metabolics because it's such a young area of research and it's a really important part of healthcare. I graduated with my degree in nutrition and dietetics in 2014.
How can what I choose to put in my body have a positive affect on health issues?
A lot of people with mitochondrial disease suffer from fatigue and low muscle tone, so it's important to be aware of how you eat and to do moderate, low impact exercise. The more tired we are, the less we want to move, but doing this type of exercise will get the health rate up and help strengthen the muscles. We want to be mindful of how much of our diet is coming from simple carbohydrates or ultra-processed foods. These types of food will give you a quick glucose boost which is important to feel energized, but the crash is worse. For muscle pain, rest is important, but an increased protein intake can also help.
What factors most impact our overall feeling of exhaustion and fatigue?
There are 5 main categories: 1. External Environments (job, school, projects, political climate), 2. Internal Environments (home life, finances, relationships), 3. Biological Stressors (overdoing exercise, fighting off disease, infection or illness), 4.Weather (extreme heat, extreme cold, elevation, climate), 5. Diet and Nutrition (deficiencies, interventions).
What time-saving hacks do you have for those who don't have the energy to meal prep in advance?
The prepared food is going to be highly processed, have excess fat and additives to preserve it. It's tricky to not reach for prepared foods, but there are ways to ensure you're preparing a meal that's healthy and quick. Plan for go-to meals that don't require you to think about the ingredients and preparation. Even if you can't meal prep in advance, try to cut up vegetables or do other prep that will save you time later when you're tired.
LINKS & RESOURCES MENTIONED
In Good Company Blog
https://www.i-g-c.com/blog
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ENERGY IN ACTION - EPISODE 115
Being A Mother and Physician and Struggling with Mito
Rachel balances caring for herself as a mito patient, but also her two children and for the greater community through the work she does.
EPISODE HIGHLIGHTS
What has your diagnostic journey been like?
I was born with mito and my symptoms have remained the same, but I wasn't diagnosed until I was 17 years old. I was diagnosed in 1998 through muscle biopsy with unspecified mitochondrial myopathy and was told that my diagnosis included chronic progressive external ophthalmoplegia (CPEO), the limitation of eye movement and the weakness of the muscles around the eyes. My diagnosis seems to affect my skeletal muscles, but not other organs or smooth muscles.
How is life as a mom and what are your struggles?
Like any other parent, challenges shift as kids grow and change. Early on, I had fears that I couldn't be an adequate mom. I came into motherhood as I came into my career, later than most people because of the fear I had in my ability to do it. As my kids grew, I couldn't lift them and there have been other limitations along the way, depending on the day. Sometimes I still feel the reality of those limitations when they want to be lifted up into a swing or something on the playground. Bathing them is really physical, as is going up and down the stairs carrying things. My strengths come in emotionally when I talk to and play quietly with my kids. In most moments, I feel like a good mom and I'm showing my kids that not everyone has the same capacity.
What do your kids know about your rare disease?
My oldest is 6 years old, so they haven't asked and I haven't explained anything to them directly. I only very recently tried to open a conversation about it with my oldest, but she has really only taken notice that I'm not as strong as her dad. My plan when the time is right is to be fully forthcoming and tell them as much as I know.
What inspired your career as a physician and the work you do today?
My dad is a doctor and I've always had similar interests as him. I've remained curious about the science of medicine, but it wasn't easy for me to decide to go to medical school. I moved from primary care to disease investigation, which is a desk job that's better suited to my needs and strengths. I got a lot from my relationships with patients, but I feel fulfilled in the work I'm doing now and I feel a lot of satisfaction and my work is really interesting to me.
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ENERGY IN ACTION - EPISODE 113
Dr. Vockley's Journey in Mitochondrial Disease Care
Dr. Jerry Vockley works everyday in the development and advancement of mitochondrial disease patient care. He is a Cleveland Family Endowed Chair in Pediatric Research, Professor of Pediatrics and Human Genetics, and Director of the Center for Rare Disease Therapy.
EPISODE HIGHLIGHTS
What inspired your career in genetics and mitochondrial care?
I stumbled into genetics as an undergraduate and did undergrad research in genetics. My first job was also in genetics. I can't tell you precisely what triggered my interest in genetics, but it layered on and I can't imagine a different career.
What is your research focus and goals for that research?
In clinical and medical genetics when I started in the field, there weren't the diagnostic advances we have now. The biggest advances came with the development of diagnostic technology. My focus is now on additional improvement and changes in technologies that have allowed us to move forward in therapy. Almost everything I do is therapy based. The area I'm excited about is that we're in the process of developing our first gene therapy for a fatty acid oxidation defect and we expect it'll be in clinical trials in a couple years. Fatty oxidation disorders didn't exist when I started my career because we didn't know about them. To go from not knowing about them to being able to cure them is powerful.
When you go into the lab and create experiments and conduct research, is it inspired by patients you see?
As an example of why we would do something like that, I once saw a 12 year old girl who had whole body psoriasis and physicians had only ever treated the psoriasis. I recognized that in addition to the rash, she was small for her age, had a small head size and she hadn't started showing any signs of sexual maturity. I suspected her case was more than just a rash and sent samples off to look for defects in steroid metabolism. Testing came back normal and so we went into the lab to look more broadly and identified a chemical that should have been there. We were able to confirm a gene that wasn't working and that led to us determining what the girl had and we were able to establish an effective treatment.
LINKS & RESOURCES MENTIONED
International Network for Fatty Acid Oxidation Research and Management (INFORM)
https://informnetwork.org/
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Website
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ENERGY IN ACTION - EPISODE 112
CeGaT Genetic Opportunities
Eric Miller and Anil Bhardwaj join me from CeGaT, a biotechnology company and world-leader in genetic analyses for a wide range of medical, research and pharmaceutical applications. They offer a lot of resources and ways to improve patient lives in the mito community and they'll highlight those opportunities for us in this episode.
EPISODE HIGHLIGHTS
What is next generation sequencing?
In terms of analyzing DNA, the process has undergone shifts and is now massive parallel sequencing of the DNA. Various structures of DNA are amplified up to analyze them and make a diagnosis or look at it scientifically and perform research. For someone in genetics, next generation sequencing (NGS) allows stretches of DNA to be massively parallel amplified and see errors that may be causing a disease.
Is there a benefit for patients with a genetic diagnosis to do additional testing?
If you've had genetic testing, it can be beneficial to make sure the lab is re-testing in case of new markers that could be identified as causative, it would be helpful to know.
Can patients contact you directly for testing or should they go through their physician?
They can contact us directly and we will direct them through the system to access testing. If you're requesting diagnostic testing, it has to be made by a physician, but we're happy to connect patients to our own in-house physicians to access testing. We will also work directly with a patient's physician and help with access to resources, education and genetic counseling.
What does the testing process look like?
We have a collection kit we make available to collect DNA by blood draw. Once the sample has been received, it will be tested and a report will be generated within a few weeks and returned to the physician.
How do you help patients with family planning?
The family planning panel analyzes all recessive mutations so they can understand any risk of passing on genetic mutations to offspring. This helps to uncover the probabilities of passing on a genetic disease and minimizing risk.
LINKS & RESOURCES MENTIONED
How ExomeXtra® Solves Patient Cases: A Four-Year Retrospective
https://cegat.com/about-us/webinars/
CeGaT
https://cegat.com/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
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ENERGY IN ACTION - EPISODE 111Chemistry RxJonathan 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 HIGHLIGHTSWhat is a compounding pharmacy?When you utilize a retail pharmacy, you have access to commercially available medications with standardized dosages that cater to most patients. A compounding pharmacy has the opportunity to create unique doses and dosage forms for different patients where a one-size-fits-most approach doesn't work for treatment. As a compounding pharmacy, we have access to the active ingredients in medications and put them into differing doses and forms for a range of patients and diseases.Why would a mito patient use a compounding pharmacy?When it comes to mito cocktails, everyone's body is different and as it relates to mitochondrial disease and metabolic conditions, being able to individualize treatments is key to treating these conditions. It's crucial to customize mito cocktails to each patient's clinical genotype and phenotype- the way their genes present in genetic testing, physically and clinically. Different mutations require unique combinations and amounts of the ingredients that go into a mito cocktails and they all work together to compensate for a lack of specific metabolites, which is generally in a higher dose than what's available over the counter. How does a patient get started if they want to utilize compounding services through Chemistry Rx?The prescriber will send the prescription to us and a nurse from our clinical team will reach out to the patient to let them know we received it and we're working on the authorization process. They'll gather information about insurance, medications, dietary restrictions and any personal preferences we should take into consideration. Throughout the process, we welcome patients to reach out about any part of the process, including insurance authorizations and claim appeals. Once a mito cocktail has been customized for a patient, it will be shipped overnight on ice as frequently as needed, before the last dose is complete.LINKS & RESOURCES MENTIONEDChemistry Rxhttps://www.chemistryrx.com/CONNECT WITH MITOACTIONWebsitehttps://www.mitoaction.org/Facebookhttps://www.facebook.com/mitoactionTwitterhttps://twitter.com/mitoactionInstagramhttps://www.instagram.com/mitoaction/LinkedInhttps://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 110
MitoArtisian’s
Welcome back to our fellow mito warrior, Christine Knox, who's here to talk about a new program she's implementing for MitoAction.
EPISODE HIGHLIGHTS
Can you tell us about the program you've started and what inspired it?
I've noticed a lot of programs offered to the mito community are fundraising efforts geared towards people who are sports minded. That's not in my realm of interest, so I decided to offer something artistic because I've been a lifelong artist. I proposed the program to MitoAction and we started MitoArtisan's Playtime. The intention is to have monthly Zoom sessions where an artist will share their work and teach or demonstrate a technique, sharing the dialogue of the artistic journey we all go on through mito. My artwork is my healing place where I can go to escape pain, worries and stress and I think it's important to support other mito artists in their journey as well.
What has your career in art been like?
I started drawing at about 10 years old and prior to that was a kid who loved coloring in coloring books. That's where my love of using colored pencils began. Throughout the years, I turned to my artwork as time and energy allowed and I enjoyed exploring new mediums. About six years ago, I started taking commissions, which mostly feature animals.
Can someone who doesn't consider themselves an artist get involved with MitoArtisan's?
Definitely, and all ages are welcome! We walk everyone through step-by-step and there will be recordings available. There will be a list of supplies available in advance of sessions, but it's just playing, so you can use whatever materials and supplies you have available.
When will the next session be?
The next session will be in June and we will be drawing a close-up of the human eye. Sessions are about two hours, but the recording will be available to replay if you can't stay for the whole session.
LINKS & RESOURCES MENTIONED
MitoArtisan’s Playtime
https://www.mitoaction.org/programs-support/mitoaction-programs/mitoartisans-playtime/
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Website
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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
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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.
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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/
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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
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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/
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Website
https://www.mitoaction.org/
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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.
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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/
https://www.linkedin.com/in/adam-johnson-8a1473125
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
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
UMDF
https://www.umdf.org/
Miracle League of Florence County
https://miracleleagueofflorencecounty.org/
Camp ADAPTabilities
https://www.speciallyabledmiracles.org/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
Linke
dIn
https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 090
Akron Children’s Hospital Mito Clinic Research Update
I'm joined by Dr. Bruce Cohen, Dr. Matthew Ginsberg and Clinical Research Coordinator, Ashley Erdesky— all part of the clinical and research team at the Akron Children's Hospital Mitochondrial Center.
EPISODE HIGHLIGHTS
How does a patient discover if they qualify to participate in a clinical trial and how do they get started?
A patient can visit clinicaltrials.gov, enter their diagnosis and search for open and active trials. They can also find resources through MitoAction or United Mitochondrial Disease Foundation. More directly, a patient can visit us in Akron or visit another mitochondrial center to see what they're eligible for. Clinical trial requirements generally have a checklist of qualifications and other details and considerations. It may be difficult to know with certainty that a patient qualifies without speaking to a trial coordinator.
What is the importance of patients participating in clinical trials and why is it critical to move therapy developments forward?
It's absolutely essential. We can't know if a treatment is effective and safe without subjecting it to scientific inquiry and performing a clinical trial. Participating in a clinical trial is the greatest gift you can give to other patients who will come later. Even if a clinical trial shows that a medication is not effective, it's useful information that brings us one step closer to effective therapies. We need enough patients and enough data in trials to know whether or not a therapy is effective and every participant counts.
In a drug trial, how is it determined who will get the drug and who will get the placebo?
In most clinical trials, patients are randomized and double-blinded by computer before receiving the drug or placebo. To accurately compare patients, neither the doctor or patient will know if they're receiving the drug or placebo to ensure we get medications to market that work and don't have side effects.
What are your words of encouragement for patients that progress is being made and hope is on the horizon?
There is always a light on at our facility. Through trials, progress is being made and people are seeing the progress, so we won't stop and we'll continue to fight for our patients. This is an exciting time for mitochondrial disease. There are over 70 trials registered for mitochondrial disease and there's more reason to be helpful than ever before. Soon, we'll have treatments potentially curative for mitochondrial disease and there's so much hope.
LINKS & RESOURCES MENTIONED
North American Mitochondrial Disease Consortium Patient Registry and Biorepository
https://www.clinicaltrials.gov/ct2/show/NCT01694940
Active and Enrolling Trials at Akron Children's Hospital
PARENTS AS RARE - EPISODE 089
Grandparents As Rare: Find Your Bike, With Karen Richtman
Karen Richtman shares her patient story, shining light on her journey and her connection to Fatty Acid Oxidation Disorder (FAOD). In addition to being a parent as rare, she is also a grandparent as rare, and she has some wonderful aspirations for future support and advocacy.
Life is like riding a bike. Balance yourself, hydrate frequently and be safe. It isn't how far or how fast you go that counts. No matter whether you are on a self-powered beach bike, tricycle, electric-powered or power-assisted bike (or chair), find joy in the moment. Celebrate the personal success you have, big or small, with assistance or without. It is the freedom of the wind in your face and the joy of the ride. Do what you can, love what you do, no judgment. —Karen Richtman
EPISODE HIGHLIGHTS
Can you start by sharing a little bit about yourself?
I'm 66 years old and I have five grandchildren and one on the way. I've been married to my husband Paul for 44 years. I've lived with chronic pain my whole life, but I'm an Energizer Bunny with a dying battery. My mito journey started when I was four years old, hospitalized for a reason not disclosed to me. When I was 12 years old, we had done hurdles in gym class and I couldn't walk the next day. The pain resulted every time I ran or did something athletic and none of my friends had the same pain. When I started college, I developed food allergies and I was falling asleep in class. I went onto law school and falling asleep in class was an ongoing problem.
When did your symptoms push you to seek answers and medical guidance?
After my husband and I married I started to think about starting a family and saw my doctor for the pain. The doctor said I had a herniated disc and he also found a birth defect, which was an enlarged disc from a joint that hadn't fully developed in my lower back. I had surgery and we proceeded to get pregnant. I had a good pregnancy and our daughter was born when I was 24. We had our second child when I was 27. I was very tired and I had to nap often. After a back injury I sustained in PT, I had to have another surgery for a fusion at the age of 35. When I went back for a follow up, I let the doctor know that I was still in a lot of pain. I was referred and received a fibromyalgia diagnosis. After a while, I went back to the doctor because I didn't think the fibromyalgia diagnosis was correct. He referred me to another doctor and I had a muscle biopsy procedure. After months, the results came back that my body doesn't produce enough of the enzyme that transports fatty acids and I was diagnosed with carnitine palmitoyltransferase II (CPT II) deficiency.
How did getting a diagnosis change your life?
It was life-changing and it was a turning point for me. I could stop seeking answers and move on to help others. When my doctor who was knowledgeable about and treating my mito passed away, my journey got complicated for years. Finding out there was a MitoAction support group for FAOD has been life-changing because I've met people who have the same diagnosis as me. Another turning point for me was getting an electric-assist bike because it was freeing and it helped me embrace my limits. Riding has helped me feel healthy and it makes me happy to be out in nature.
What has your experience been like as a grandparent?
My earliest experiences with grandchildren was exhausting. Being a grandma isn't much different than being a mom. I'm still a mom in every way you can imagine to my children, but as a grandma I've decided since I can't keep up with them, I'll be the grandma who makes things and teaches them to make things. I've been creative in thinking about what I can do that the kids will thin
ENERGY IN ACTION - EPISODE 087
Shades of Grief with Dr. Kendall
Dr. Fran Kendall is the Founder of VMP Genetics. As a geneticist, she has supported mitochondrial patients for the last three decades. She has also written a book called Shades of Grief which highlights her personal struggles with grief through her professional work as a geneticist.
EPISODE HIGHLIGHTS
What was the inspiration for your book, Shades of Grief?
I have always been interested in writing and I've been writing since I was young. The inspiration for this book, specifically, started with my patient population and my friends encouraged me to compile the manuscript and share my personal journey to help others work through grief. There have been many patients who have touched me profoundly over the course of my career. The story is complex, not only about patients, but that if we as physicians connect with patients, we become an integral part of their lives.
In the mitochondrial community, dealing with genetic-related diseases, would you agree that they typically deal with compounding grief?
When it comes to genetic disorders, it often affects more than one family member, and sometimes multiple generations. That grief is heavy and crushing, especially after the loss of several family members or the loss of a child.
Through all of your work with patients and the grief you've experienced professionally and personally in your life, what helps you get through everything?
I think the most important thing is to embrace people important to you. Don't sweat the small stuff and enjoy the small things. In the day-to-day, find time for quiet moments and to honor your own needs. My parents inspired me to love, be loved and to be of service to others-- the guiding principals I hold onto.
LINKS & RESOURCES MENTIONED
Shades of Grief - RoseDog Bookstore
https://rosedogbookstore.com/shades-of-grief-echoes-of-hope-from-the-darkness/
Shades of Grief - Amazon
https://www.amazon.com/Shades-Grief-Echoes-Hope-Darkness/dp/B0BKMPPTCC
Shades of Grief - Barnes & Noble
https://www.barnesandnoble.com/w/shades-of-grief-frances-dougherty-kendall/1142570341
VMP Genetics
https://www.vmpgenetics.com/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https:
//www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 086
Travel Tips from the PAR Community with Lisa Weinberger
Lisa Weinberger and host, Adam Johnson, share tips and tricks for summer travel, hitting the road, or taking to the skies when you have unique health situations and circumstances to consider.
EPISODE HIGHLIGHTS
Preparation
- Plan an itinerary for each day that includes all travel details for easy reference, preferably in a way that can be shared among other traveling family or friends.
- Give yourself plenty of time in advance of your planned travel dates to outline and plan the trip details.
- When building your itinerary, build in time for rest or any other needs you may have.
- Get ahead at home before your trip to avoid having things to do when you get home.
- Check the accessibility of places you'll be visiting.
- Make doctor's appointments in advance of your trip and ensure you have all needed medications filled or adjusted. Order prescriptions well in advance of your travel dates.
- Book sufficient accommodations in case you can't participate in activity or need to remain at the hotel.
- Locate local grocery stores, general retailers and pharmacies where you'll be staying and see what delivery options are available.
Organizing Medical Information
- Have a list of your medications, medical conditions, allergies and emergency contacts printed and laminated, readily available in one convenient location.
- Include your providers in planning to establish healthcare proxies.
- Compile your healthcare providers' contact information.
- Create an audio file on your phone that explains your disease diagnosis and protocols in case you're unable to speak in an emergency.
Packing
- Start packing in advance of your trip so you can take your time and pace yourself.
- Only pack what you need to avoid checking bags with the airline, if possible.
- Pack a water bottle so you stay hydrated when you're traveling. If you're traveling somewhere hot, also bring a cooling fan or cooling towel.
- Bring a book or ebook device to catch up on your reading while you're traveling. This is also a good time to catch up on your favorite podcasts.
- Don't forget headphones for sleeping, travel ambia
PARENTS AS RARE - EPISODE 083
A Painful Identity - Renuka Dhinakaran
Renuka Dhinakaran is an international labor lawyer, mom, chronic illness patient and an incredible patient advocate.
EPISODE HIGHLIGHTS
Will you start with sharing about yourself?
I'm 38 years old, married and living in the Netherlands, originally from India. I have a son who is 10 years old and I'm an international lawyer with my own law practice. I had a wonderful life until 4 years ago when chronic illness became the new normal for me.
Where did your chronic condition journey start?
I was a premature baby and I was sick a lot as a child. I remember being in pain quite often and as a teenager was diagnosed with PCOS and endometriosis. I was later diagnosed with hypermobile Ehlers-Danlos syndrome. The turning point was my pregnancy when I suffered with back pain. After I gave birth, I was told I had degenerative disc disease and a pelvic dislocation. I went on to develop anxiety, hypertension, asthma, gallstones, allergies, migraines and arthritis.
What's your advice for parenting with chronic illness?
I learned the hard way to erase guilt from my vocabulary. I have also learned to pick my lane. I'm in charge of overseeing my son's health and academics. His father handles logistics, sports and activities. The best suggestion I have for parents with chronic illness is to pick one lane where you can contribute, even on your bad days, that no one else can do. Acceptance and commitment therapy has also been helpful to accept the way things are, figuring out a plan and committing to it.
LINKS & RESOURCES MENTIONED
Renuka Dhinakaran on Twitter
https://twitter.com/renudhinakaran
A Painful Identity
https://www.apainfulidentity.com/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
Instagram @RareDiseaseDad
https://www.instagram.com/rarediseasedad/
https://www.linkedin.com/in/adam-johnson-8a1473125
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
ENERGY IN ACTION - EPISODE 081
Akron Children’s Hospital - Meet the Mito Clinic Team
We are joined by Dr. Iam Rossman, Dr. Stephen Steiner, Dr. Abdu Alali and Nurse Coordinator, Kim Jaaeger— all clinic members from the Akron Children's Hospital Mitochondrial Center.
EPISODE HIGHLIGHTS
What is the process for a patient to make an appointment?
We accept physician referrals and self-referrals and we see patients locally and regionally. Once a patient is accepted into the program, an authorization specialist will check benefit coverage and before the initial appointment, we have an internal discussion to formulate a care plan. A patient can expect the initial appointment to take place in as little as two months.
What pre-qualifications are required to be accepted?
We don't require a confirmed diagnosis and we also see patients who are highly suspected to have mitochondrial disorder based on clinical history, laboratory findings and family history.
What is a patient's first visit like and how can they prepare?
Just like most new patient evaluations, it's helpful to come with any data and imaging they have. Before the appointment, we will obtain records from other providers to preview as a team. Patients can expect a pretty long visit that doesn't feel rushed so we can get to know them and their medical history. Patients can make a list in advance of any questions they have along with their goals for the visit.
Can you talk about the North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) initiative and how patients can get involved?
The overarching goal is to find out more about our patients in order to help them and also future patients. One of the ways we're doing that is through obtaining samples and banking them in the repository so that researchers have access to perform high-quality research. A patient must have an established genetic diagnosis to participate.
How does a bio bank facilitate research and how are samples shared?
We collect samples with the goal to have clinical information tied to DNA available to then do further research and look at a bigger group of patients. Samples aren't associated with a patient's name. Instead they're de-identified, which allows a patient to contribute to our global understanding of a disorder and remain anonymous.
LINKS & RESOURCES MENTIONED
North American Mitochondrial Disease Consortium Patient Registry and Biorepository
https://www.clinicaltrials.gov/ct2/show/NCT01694940
Active and Enrolling Trials at Akron Children's Hospital
https://www.clinicaltrials.gov/ct2/results?locn=Akron+Children%27s+Hospital&Search=Apply&recrs=b&recrs=a&recrs=f&recrs=d&age_v=&gndr=&type=&rslt=
CONNECT WITH AKRON CHILDREN’S HOSPITAL
Akron Children's Hospital, Mitochondrial Center Website
https://www.akronchildrens.org/departments/Mitochondrial-Center.html
Email Mitochondrial Center
mito@akronchildrens.org
Phone (330) 543-6486
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 080
Jireh Somera - Fabry Fighter
Jireh Somera is a husband, father and Fabry fighter. While our rare disease journeys have been different, we share a lot of similarities and it's nice to have someone to relate to. In this episode, Jireh shares some of his journey with us, giving us insight into staying present, shifting perspective and trusting the road ahead, knowing that it's not what he can't do, but what he can do.
EPISODE HIGHLIGHTS
What was life like leading up to your diagnosis?
In 2020, my son was born and I was a new dad. I took the opportunity to work at home and embraced my time with him and my wife. My career was where I wanted it to be and we had just bought a home.
What were your first symptoms?
I didn't know I had symptoms of Fabry disease-- I just thought I had normal headaches or elevated blood pressure. I went to work with a headache, assuming it was allergies, had coffee, took a pain reliever and by the evening the headache came back. That night, I yelled in my sleep and my wife woke up to find me unresponsive. A CT scan revealed that I had a brain bleed, I was admitted to the ICU and a stint was implanted. Through that procedure, doctors discovered abnormal blood vessels in my neck, which triggered follow-up appointments, meeting with a geneticist and receiving a diagnosis.
What was your experience after being diagnosed when living up to your expectations as a dad and husband were so important to you before?
It was a struggle in the beginning and still presents opportunities for me to work on today. I put a lot of emphasis on what a good father and husband looks like and once I realized those were just my expectations and not who I needed to be, which helped have an overall change in mindset. My wife, family and friends also play a big role in my continued change of mindset.
How have you adapted the way you interact with your son?
Since he's little, most activities we do are adaptable. With the mobility issues that resulted from my strokes, I have found ways to play, sitting in a chair so I don't have to stand. I appreciate the family support we have with caring for my son. They help him with the things I can't and I stay focused on what I can still do for him. Even though he's two years old, it's been helpful to be honest about the boundaries and what is and isn't okay to do with me.
LINKS & RESOURCES MENTIONED
Jireh on Instagram
https://www.instagram.com/hello_my_name_is_jireh/
Rare Is Everywhere book by Deborah R. Katz
https://bookshop.org/p/books/rare-is-everywhere-deborah-r-katz/14471617
Fabry Support & Information Group
https://fabry.org/
National Fabry Disease Foundation
https://www.fabrydisease.org
AllStripes
https://www.allstripes.com/
Global Genes
https://globalgenes.org/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
Instagram @RareDiseaseDad
https://www.instagram.com/rarediseasedad/
https://www.linkedin.com/in/adam-johnson-8a1473125
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 076 Dr. Neena Nizar - Share Your #RareDiseaseTruth & Give Love A Chance Dr. Neena Nizar started the #rarediseasetruth movement. She was misdiagnosed for decades, but now knows she shares a diagnosis with her two sons. Neena is a wonderful person, incredible advocate and the founder of The Jansen's Foundation. EPISODE HIGHLIGHTS Can you tell us about yourself and your connection to the rare disease community? I have a rare disease called Jansen Metaphyseal Chondrodysplasia, a skeletal disorder that affects less than 30 people worldwide. I had several misdiagnoses and was finally diagnosed after I had my second son. I married my husband and we were told that we wouldn't have children. We were in the process of adopting when I became pregnant with our first son. He was born healthy and we didn't know anything was wrong. Two years later our second son was born and we were notified during the pregnancy that something wasn't right. That's where the quest began and we started searching for a diagnosis. What considerations did you and your husband have around starting a family? We talked about it and had no idea if what I had would be passed on because no one else in my family shared my disease. Because we didn't know at the time what I had or a good understanding of it and we really did believe the doctors that told us we wouldn't conceive. We had conversations around the love we had to give a child, whether natural or adopted, and we knew we were ready for it. How can someone respond when they're navigating diagnosis and feeling disregarded? I have learned to filter noise, to take away the emotion of a situation. If a doctor is saying something based on what he sees, I've learned in those instances to trust myself more. You owe it to yourself to be strong in those moments and see it for what it is-- that the doctor doesn't see or hear the full story. Can you tell us about the #rarediseasetruth movement? The hashtag was an organic creation that started during the pandemic. It upset me that covid treatments were released so quickly and it raised questions about why the rare disease community didn't have treatments. I started venting on social media, calling out that we matter too. The hashtag caught on fire in ways I couldn't have imagined and people still use it. It spotlights rare everyday, and we're growing the population of people who are speaking openly and fearlessly. LINKS & RESOURCES MENTIONED Hashtag #rarediseasetruth https://twitter.com/hashtag/RareDiseaseTruth?src=hashtag_click Neena Nizar on Twitter https://twitter.com/NeenaNizar The Jansen's Foundation https://www.thejansensfoundation.org/ FOLLOW ADAM JOHNSON Twitter @RareDiseaseDad https://twitter.com/rarediseasedad Instagram @RareDiseaseDad https://www.instagram.com/rarediseasedad/ LinkedIn https://www.linkedin.com/in/adam-johnson-8a1473125 CONNECT WITH MITOACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 075
Dalia’s Wish Makes Dreams Come True for the Del Forno Family
Nicole Del Forno is the mom of Gloria. Her family recently went on a wish trip at Give Kids the World Village and she joins us to share their experience.
EPISODE HIGHLIGHTS
Can you tell us about your family and rare disease journey?
My daughter Gloria was born in 2018. At about 6 months old, we noticed she was reaching most milestones, but not babbling like a typical baby her age. At 9 months old, we were referred to a neurologist and then a geneticist. After genetic testing, we received a diagnosis of mitochondrial disease. Two years later with treatment, Gloria has progressed and we're fortunate that she's doing really well.
Your family was a recent recipient of Dalia's Wish program. Can you talk about your experience?
We were so excited to be granted the trip and couldn't imagine how wonderful it would be. Her school announced the trip to her with all of her friends present and it was such a cool experience. We spent a week at Give Kids the World Village and we didn't have to worry about a single thing. It is the most magical place and Gloria felt like a normal person there, everything was accessible, she had the freedom to be independent and everyone spoke her language. All of the volunteers work so hard to make kids feel special.
What was your favorite part of your family's wish trip?
My favorite moment of the whole experience was when Gloria went into the ice cream parlor and got her own ice cream and sprinkles because this was the first time that she was able to do something completely independent, without prompting or support.
What is your advice to other families granted a trip through Delia's Wish program?
There are Give Kids the World Village groups you can join on social media where you can get information about the village and everything else you need to know. If you come in the summer, be prepared for Florida's hot weather. Plan to spend a lot of time at the village because there is a lot to do there.
LINKS & RESOURCES MENTIONED
Give Kids the World Village
https://www.gktw.org/
Dalia’s Wish
https://www.mitoaction.org/wishes/
MitoSantas
https://www.mitoaction.org/mito-santas/
MitoAction Newsletter
https://www.mitoaction.org/newsletter-signup/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 074
Exploring Palliative Care
Kimberly Matias, a social worker, and Michelle Hurty, a physician assistant, join me for an exploratory conversation about palliative care to dispel the myths that exist and provide information to my listeners.
EPISODE HIGHLIGHTS
What is palliative care?
Palliative care is a multi-disciplinary service that gets involved with patients and their families after the diagnosis of a serious or life-limiting illness. We work alongside the primary care team to coordinate communication, clarify any confusion or information, help the family along the journey and explore treatment goals. While hospice service is focused on end-of-life care with a six month or less prognosis, life expectancy isn't a condition for palliative service and we may work with patients for many, many years. Our role is to advocate for the patient.
Who makes up a palliative care team?
In order to provide full care, most palliative care teams have a multi-disciplinary team which may include a social worker, chaplain, physicians, a physician assistant, nurse practitioner and pharmacist.
With disease progression and symptom presentation being different for every patient, who is a good candidate for palliative care?
Our goal is to capture people upstream, recognizing their treatment goals are going to change over time as their disease progresses or evolves. Palliate care is for any point after someone receives a diagnosis and we're happy to get involved and be helpful all along the way.
At an initial palliative care appointment, what questions are helpful to patients and families to ask and how can they prepare?
Go in with an open mind, be open to having conversations and consider what you would like your healthcare to look like. It's helpful to think in advance about how things are going at home and what kind of resources are needed. Identify your durable power of attorney for healthcare in advance and if you have a living will, bring those documents with you.
LINKS & RESOURCES MENTIONED
Get Palliative Care
https://getpalliativecare.org/
American Academy of Hospice and Palliative Medicine
https://aahpm.org/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
Instagram @RareDiseaseDad
https://www.instagram.com/rarediseasedad/
https://www.linkedin.com/in/adam-johnson-8a1473125
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 073
Challenging The Status Quo - Robin Powers
Robin Powers is a mother who has a rare disease and she's raising a son who has a rare disease. She's a single parent going to school, yet she still manages to knock out important advocacy-related work and projects, all while supporting others. We discuss navigating parenting as parents with rare diseases.
EPISODE HIGHLIGHTS
Can you share what your connection to Ehlers-Danlos syndrome (EDS) is?
As a teen, I dislocated my knee in my sleep. I did my research and proposed to my physician that I had EDS. I saw a geneticist to get diagnosed and subsequently found support in the rare community.
What is the importance of having perseverance through the diagnostic odyssey?
I like to challenge the status quo because if you don't do it, no one else is going to do it after you. I've seen my son stand up for himself and advocate for himself many times and it wasn't because I taught him to do it-- he saw me doing it. I personally took the statistics and changed the odds by changing the factors and becoming more perseverant, not taking n for an answer, taking every opportunity I could find, and never being too afraid to ask. I knew that would turn my hope into action and would make things very possible.
What is your experience parenting while having a rare disease?
It's challenging to not have a caregiver and need a caregiver and then care for someone else and be their rare champion of hope. It's taxing and emotional because I always feel like I'm failing and I feel guilt when I need to rest or something that takes away from my son and our time together. I worry about him in the future and hope that what I'm adding to his life isn't going to be a deficit.
How do you manage being a parent with a rare disease and parenting a child with a rare disease?
I'm a single parent and I am the only raregiver. When managing our conditions, I always address any concerns for him first because he's depending on me. Even though I should put my oxygen mask on first, I know I can probably hold my breath for a little while. I remember suffering at his age and not having help and I won't have the same for my son. So I hold my breath, take care of my son and do the best I can to take care of myself.
What tips do you have for parents in a similar situation, having a rare disease and parenting a child with rare disease?
I came up with the terms rareabilty and rareativity. Rareativity is accepting what you can do for the day. If you have ten things to do, but you can only do three, postpone the remaining seven things for the next day. I accept that I can only do what I can do. Rareability is the idea of bracing the things that you're good at and fostering the skills you're good at. I use mindfulness to stay ahead in the game, to be mindful of the fact that I shouldn't be hard on myself for something and that I'm doing the best I can. Mindfulness of reality makes me feel lucky to have life, despite how hard it is.
LINKS & RESOURCES MENTIONED
The Disorder Channel
https://www.thedisordercollection.com/
Beyond Limits: Rare Men Talking Mental Health
https://www.youtube.com/watch?v=BmQKPkT3kvs
Parents as Rare: Cowden Syndrome and Male Mental Health – David Ross
https://www.mitoaction.org/resources/par_davidross/
Parents as Rare Past Episodes
https://rarediseasedad.com/parents-as-rare-my-pod
Angel Aid
https://www.angelaidcares.org/
CONNECT WITH ROBIN
https://twitter.com/Robin_Lexi
https://www.linkedin.com/in/robinapowers/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
Instagram @RareDiseaseDad
https://www.instagram.com/rarediseasedad/
https://www.linkedin.com/in/adam-johnson-8a1473125
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 072
The Navigation Project
Lauren Kopsick and Ivy Braun are the founders of the Healthcare Navigation Project, formerly known as Parent It Forward. This is the first independent public healthcare literacy and life care project for all youth as they transition to adult care. They share their advice for transitional planning after pediatric care.
EPISODE HIGHLIGHTS
Can you share what The Healthcare Navigation Project does?
We consist of five modules which includes basic healthcare navigation, navigating specialty healthcare, advocating for mental health, let's talk pharmacy and customer care and the future of healthcare. The program starts with basic healthcare navigation-- learning the 27 keywords you need to know and will teach you about developments and changes so patients and families are informed and they can share information with their doctors. This module also teaches patients how to pick a physician, about body language and telephone skills. A script is provided to call a physician's office so they know what questions they need to ask. In another module, we practice calling pharmacists and learning about medications and how to get them. In another module, we call 211, which is the keeper of every service for a state.
What are the five guiding principles for advocating?
- If it doesn't make sense to you, it probably doesn't make sense and you shouldn't stop until you can make sense of it. 2. People are people-- good, bad and indifferent, and you don't have to engage with someone who makes you feel uncomfortable. 3. Research, research and more research. 4. Never give up anything once you have it. 5. The Patient Centered Medical Home.
Have you presented to rare disease groups?
We are working with the Taproot Foundation which acts as a recruiting firm for nonprofits. They're helping us with a program that will be in January 2023.
What is the importance of sharing what we know with others to build their healthcare knowledge and move expectations forward?
Patients and users of healthcare are the customers of the healthcare system, so if you're unhappy with a service, you have to push it forward. Learn the system and how to push forward and ask about other options. Keep pushing boundaries.
LINKS & RESOURCES MENTIONED
The Healthcare Navigation Project
https://thehealthcarenavigationproject.org/
National Committee of Quality Assurance
https://www.ncqa.org/
Got Transition
https://gottransition.org/
Taproot Foundation
https://taprootfoundation.org/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 070
Meeting My MELAS Mito Friend - Elizabeth Wood
I met Elizabeth Wood, a fellow mito patient, through connections at Mito Action. Elizabeth was the first person from the mito and rare disease communities that I was fortunate enough to meet in person. I was grateful to meet with her, discussing being rare disease parents and mitochondrial disease. I learned a lot from our conversation and reuniting to record this podcast was just as helpful.
EPISODE HIGHLIGHTS
Can you share about yourself and your journey?
I'm still on the diagnostic odyssey with a suspected diagnosis of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). My journey has been long-term and I've struggled with symptoms my entire life. I recently gave up my professional life as a researcher at a think tank where I did policy work and advising. I'm a single parent with a child with special needs and rare conditions.
What is it like being a parent with a rare disease and parenting a child with a rare disease?
My daughter has 16p11.2 deletion syndrome which causes intellectual disability, developmental delays, cardiac issues and epilepsy. She has another rare disease called alternating hemiplegia of childhood, an unpredictable neurological disorder. The physical requirements required of me to lift and care for her when she can't stand, walk or eat is becoming harder as she grows.
How do you interact with your daughter when you can't be as active as you'd like?
There are activities I would have never thought to do with my daughter if it weren't for our limitations. When neither of us feels like doing anything, we can still have fun and we make sure to carve out special time together every day.
How do you create special time to bond with your daughter?
It varies day-to-day depending on what we're up for, but a lot of our special time is indoors at the end of the day. If I can't hold a book up for her to read, we will work together to recite our own story and determine what happens through using mad libs. We've started recording some of them to have later because they're special.
What benefits are you seeing for yourself and your daughter as a result of seeing a physiatrist?
This is my new favorite medical professional because they're helpful and solution-oriented. For us, it's been a much different medical experience. Appointments are concrete, the physical exams and testing has led to actual insight into what's happening in our bodies.
LINKS & RESOURCES MENTIONED
No Time Like the Future: An Optimist Considers Mortality - Michael J. Fox
https://www.amazon.com/Time-Like-Future-Considers-Mortality/dp/1250265614
Mitochondrial Myopathy Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS)
ENERGY IN ACTION - EPISODE 069
Give Kids the World with Justin Kiser
Justin Kiser is a dad to Riley, who is five years old and has a rare form of mitochondrial disease. The Kiser family was a recipient of a Mito Action and Give Kids the World wish trip. Justin shares details about their trip and what it meant to their family.
EPISODE HIGHLIGHTS
Can you tell us about yourself and your family?
I'm a husband and father of four. We came into the mito family through my youngest daughter who has a rare mitochondrial disorder called ECHS1. She was diagnosed about three years ago through genetic markers after being born to her biological parents addicted to substances. We're not sure if her disease was hereditary or environmental.
What was your experience as a recipient family of a Give Kids the World trip?
It was amazing. The fact that everything was paid for, not just for Riley, but for our whole family of six shocked me. The trip wasn't just monumental for Riley- it was amazing for all of us and we had a great time together as a family. The resort was very clean, the villas were spacious enough for everyone, and everything was organized really well. We visited each Disney park, both Universal parks and Sea World. Everywhere we went, we were treated like royalty and there was so much care, love and compassion extended to Riley.
What was Riley's favorite part of the wish trip?
Her favorite part was being able to eat ice cream all day, even for breakfast. A lot of her favorite parts of the trip was at the Give Kids the World resort, seeing the star fairy and having her star placed at the castle.
LINKS AND RESOURCES MENTIONED
Give Kids the World
https://www.gktw.org/
Trip Wish Nomination
https://www.mitoaction.org/wishes/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 068
Special Episode - Live from the 2022 Global Genes Rare Patient Advocacy Summit with Tim McLerran, Head of Product, Medical Intelligence One, Inc.
Tim McLerran is the Co-Founder and Head of Product at Medical Intelligence One, where the mission is to care for patients based on their own deeply informative data with wisdom derived from a partnership between human and machine intelligence trained on data from billions of other humans and all of the world's medical knowledge. Tim is also launching and hosting a show called Diagnostic Odysseys, where they dive into patient stories in hopes of shortening the diagnostic odysseys patients endure.
EPISODE HIGHLIGHTS
What are your thoughts on patient care and face-to-face time?
I got into medicine because I wanted to have a relationship with my patients. Coming through training, I could see that was not the world I was coming into, which in part is why I decided to change my career direction and focus instead on something more connected.
How has your medical career transitioned into your role with Medical Intelligence One?
While researching in medical school to develop methods of rapidly scanning blood, we generated large data sets of thousands of people. There was a moment that I remember staring at the numbers and realizing human minds need help from machine minds to make full use of the data. That made an impression on me, and through my clinical training, additional factors came together that inspired me to consider taking a deeper dive into bridging human and machine intelligence in medicine. I went from the clinical track to full time researching, attending conferences, reading books and reaching out to mentors.
Can you tell us about Enola?
Medical data is organized and stored in the electronic medical records system in a way that isn't conducive to downstream analysis and there are better ways to organize data. A colleague and I turned our attention to rare diseases and building a system where a patients can enter clinical findings, discover diseases associated with clinical findings and narrow results based on additional related findings. Once this product is developed and launched, it will be available to patients directly.
LINKS & RESOURCES MENTIONED
Medical Intelligence One
https://www.mi1.ai/
Once Upon a Gene Podcast
https://effieparks.com/podcast
Enola
https://www.mi1.ai/enola
Tim McLerran on Linkedin
https://www.linkedin.com/in/tim-mclerran/
Tim McLerran on Instagram
https://www.instagram.com/p/Cj0TSFhuoVo/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
ENERGY IN ACTION - EPISODE 067
What's It Like Being a Research Patient with UDN - Ted Will Tell You
In addition to being the host of the Energy in Action Podcast, Stephanie is a mom to three children. Stephanie's son Ted is the youngest of three siblings with two older sisters. Ted and Stephanie recount the mitochondrial disease journey from their shared mother-and-son perspectives.
EPISODE HIGHLIGHTS
What compels me to host this podcast is my need to find my tribe. As an early adopter of rare disease and mitochondrial dysfunction, I was often alone, never understood and my peers couldn't relate to me. The internet wasn't as robust as it is now and social media wasn't a thing. We were told that Ted was un-treatable and had a 10-12 year expected lifespan. I began researching and found Mito Action. I have found other parents who speak my language, who understand my heartache, my joy and my absolute frantic need to find answers and treatments.
In 2013, Ted had a serious illness and was septic from a line infection. For 23 days, Ted's body would improve and then backslide. It was during this time when we noticed neurological concerns and Ted had the first of many MRIs.
A growth was discovered near Ted's pituitary gland. With more research, I found a research study happening at the NIH and submitted all the necessary documents. When I heard back from the NIH, they wanted to see Ted and two weeks later we went to DC. It was there that we became part of the mini study and the Undiagnosed Disease Network.
For the first year and a half of being part of the mini study, we did a lot of back and forth from Minnesota to DC where we would stay for two or three days. It was during one of those visits where they started realizing that Ted's immune system was a bigger piece of the diagnosis puzzle. Ted was getting super flu shots and a pneumonia vaccine every year, which most people usually get once every five to 10 years. It was also confirmed that Ted had a tumor on his pituitary gland and he started developing side effects.
After graduating high school and enrolling in a local community college, Ted's pituitary tumor started affecting him at work and school. He began experiencing dizziness, headaches, migraines, loss of appetite, memory loss, and he lost over 20 pounds in less than a month. After surgery to remove the surgery, there's been no new growth or evidence of the tumor after a year.
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
ENERGY IN ACTION - EPISODE 066
Alex the Great and LCHAD
Alex is in her second year of college at Texas Tech where she is studying human development and family sciences. She also has LCHAD, a long-chain fatty acid oxidation disorder.
EPISODE HIGHLIGHTS
Can you introduce yourself and share more about LCHAD?
I'm 20 years old and a sophomore at Texas Tech University. LCHAD is a rare genetic metabolic disorder that prevents me from using fat for energy. I eat a low fat diet because my condition prevents my body from breaking down long-chain fats. I take supplements that have fats my body can use and I include limited essential fats.
How do you manage your way of eating?
I've known of my disease my whole life, so I've had a lot of experience reading nutritional labels and eating the right diet for me. That has allowed me to go to restaurants and order food that is within my limitations. I use alternatives like powdered peanut butter instead of jar peanut butter so I can eat a lot of typical fatty foods without being too restrictive. On campus I am able to eat in the dining hall and request foods be prepared in a way that I can eat them, but there's also a dietitian on campus who keeps a nutrition log I can refer to when I need to.
What is your advice for other rare disease students considering going away to college?
I was very determined, so it's worth trying, taking on a little more responsibility and going after dreams. It takes work to manage rare disease at college, but it's doable. Plan with your parents to make sure there are people to support you while you adjust.
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 065
Tara Zier - Stiff Person Syndrome Research Foundation and Finding Your Purpose
Tara Zier is a rare disease patient, mother and the Founder and President of The Stiff Person Syndrome Research Foundation, where the vision is that all people with Stiff Person Syndrome (SPS) receive a prompt diagnosis, compassionate care, effective treatments and a cure. The mission is to raise awareness of SPS, to support research for better treatments and a cure for SPS while strengthening the community through education and collaboration.
EPISODE HIGHLIGHTS
Can you share your rare disease story?
I came into the rare disease space because I have a rare disease called Stiff Person Syndrome (SPS), which is a rare neurological disease with autoimmune features. I was diagnosed in 2017 after a three year long diagnostic odyssey, going from doctor to doctor and receiving misdiagnosis.
What was it like to get your diagnosis?
I was relieved to have an answer. There was a lot of pressure and anxiety around parenting my children and protecting them from trauma as I went through the diagnostic odyssey, so there was also relief from that. I moved into the education phase to learn about the disease and determine a comprehensive approach to healing and getting better, despite SPS being a progressive disease.
How has your SPS diagnosis impacted your kids?
My kids have a good recollection of what I was like before my diagnosis, so it was hard for me knowing they were witnessing the changes. We became closer through my diagnosis in a lot of ways and I'm honest with them about the unknowns so we can be grateful for each day.
How did you communicate your diagnosis with your children?
I relied on therapists to guide me on what to say and how to say it. I had to decide how much information to give them because the disease is a spectrum condition with different levels of disability. I had to be transparent about not knowing what the future looked like. I let them know that they could research, but that I preferred we do it together so we could talk about it.
Can you share what The Stiff Person Syndrome Research Foundation is doing right now?
We were fortunate to get the Chan Zuckerberg Rare As One grant, which offers three years of funding for organizational capacity for sustainability and networking. They also offer training and support across all facets of running a rare disease nonprofit. Since we've received the grant, we've expanded our board, brought on three members for our medical advisory board- all experts in SPS. We're currently in the process of developing our patient contact registry natural history studies.
LINKS & RESOURCES MENTIONED
The Stiff Person Syndrome Research Foundation
https://stiffperson.org/
SPSRF on Facebook
https://www.facebook.com/TheSPSRF
SPSRF on Twitter
https://twitter.com/TheSPSRF<!--
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ENERGY IN ACTION - EPISODE 064
Lovevery - Purposeful Play Customized for all Abilities
Maral Amani is a Licensed Physical Therapist and the Disability Support Specialist at Lovevery, a toy company that helps families, educators and therapists find the right toys and the right tools to help develop confidence through play.
EPISODE HIGHLIGHTS
Can you tell us about yourself and your work?
I'm a Physical Therapist, specializing in children ages 0-3 and early intervention. At Lovevery, I'm the Disability Support Specialist for a recently launched program that allows families to purchase play kits without a subscription. Through communicating with me, I'm able to help families choose specific play kits that are best for children with a focus on skill-based development and strength-based development. Families can reach out to me through the website, answer questions about their children, share what skills they're developing, and I will recommend a play kit that will also include a play guide.
What kits are available for children with mobility issues?
As a Physical Therapist, I focus on big movements, core strengthening, leg strengthening, bearing weight through the arms. For tiny movements, it's best to put children in a comfortable position to play so they're reducing the energy demand of holding themselves up so their energy can focus on fine motor movement. If you purchase a play kit that has toys that can't be used right away or used in the typical way, think about how the toy can be enjoyed with modifications.
What do you recommend for developing executive functioning skills?
My favorite play kit for that is the Inspector Kit with the ball drop box. It comes with balls inside the box, but it rolls out at an angle to the side. There's auditory feedback from the wooden ball rolling and dropping. I also like using our Bright & Light Play Scarf to cover books and other objects children are interested in. This is good for working on object permanence and executive functioning.
How do families access the Lovevery disability service?
Complete the form or email me at support.specialist@lovevery.com and we can discuss which play kit is right for your child through a one-on-one, personalized experience. We have a disability expert council with a lot of experience working with children with disabilities and they provide a lot of guidance to me to ensure we're considering multiple angles of each child's development. We are here for all families and we want families to feel seen and supported. Please email me with any questions you have.
LINKS AND RESOURCES MENTIONED
Lovevery
https://lovevery.com/
The Inspector Play Kit
https://lovevery.com/products/the-play-kits-the-inspector
The Explorer Play Kit
https://lovevery.com/products/th
ENERGY IN ACTION - EPISODE 063
Meet Devin the Genetic Counselor and Mito Patient
Devin Shuman is a Genetic Counselor based outside of Seattle, Washington. At age 16, she was diagnosed with Mitochondrial Depletion Syndrome (MDS).
EPISODE HIGHLIGHTS
How are you connected to the mito community?
I was diagnosed with Mitochondrial Depletion Syndrome (MDS) at age 16. My brother went through the diagnostic odyssey and also has the same form of mito, so while I had symptoms my whole life, I had a presumptuous diagnosis until age 16. In college, I attended a genetic counseling event that inspired me to become a Genetic Counselor.
Can you share about your work as a Genetic Counselor?
I currently work in telemedicine for a nonprofit called Genetic Support Foundation. The company provides genetic counseling directly to patients without the waitlist most genetic clinics have, and to break down barriers patients typically experience in a non-biased way. My job is to educate patients around their options.
As a clinician, how do you guide families through clinical testing?
My first job out of school was working in genetics at an autism center which taught me a lot about treating symptoms and when testing is or is not right for a patient. Clinical testing can sometimes help with medical management, open the door to clinical trials and connect families with communities. There are expense considerations in addition to weighing how answers will help with medical management and family planning that I help families make decisions around and have conversations about.
LINKS AND RESOURCES MENTIONED
Genetic Support Foundation
https://geneticsupportfoundation.org/
UDN Participant Engagement and Empowerment Resource (PEER) Group
https://undiagnosed.hms.harvard.edu/resources/peer/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 062
Mary Morlino - Parenting with Sarcoidosis & Discussing the Global Genes 2022 RARE Patient Advocacy Summit
Mary Morlino is the Rare Concierge Patient Services Manager at Global Genes. Mary and I will be speaking on a Parenting While Rare panel at the upcoming 2022 RARE Patient Advocacy Summit. The summit is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners, and allies. Visit the Global Genes website to get more information about attending in-person in San Diego or virtually, September 12th-14th.
EPISODE HIGHLIGHTS
Can you tell us about yourself and how rare disease has impacted you?
I work at Global Genes and I'm the Co-Founder of MarylandRARE, an organization that serves the rare disease community in the state of Maryland. I have two young adult daughters. When they were 7 and 9 years old, I was visiting my sister in California when I collapsed for an unknown reason. I spent a week in the hospital undergoing various testing and was released without any answers, only confirmation that something was wrong with my heart. I flew home and a day later I was hospitalized again, underwent additional testing and had a pacemaker put in. Several years later, my health started to decline rapidly and I had to wear an external defibrillator vest while I consulted with heart transplant doctors. A final test was a biopsy that revealed I had Sarcoidosis, an inflammatory disease where groups of cells create granulomas which inhibit blood flow and function.
What were the conversations like with your daughters about your diagnosis?
It was difficult because I was in the hospital, there was no hiding it, and my children were old enough to Google whatever they wanted about the disease. We had a series of conversations, giving them information and leaving the door open for future conversations or questions. Even as adults, we still talk, but they monitor me and concern themselves with how I'm doing and I wish they didn't have to feel that way.
What advice do you have for navigating work, advocacy, parenting and disease?
I've had to shift to a less physical life and find a balance of personal growth and personal contribution to help me feel valued. This is why I got into advocacy- it fed me energy, allowed me to contribute and helped me to feel positive about my value in the world. I disregarded and eliminated anything in my life that didn't need focus and energy. My best tips are to schedule rest, eat healthy, have compassion for your body and balance your priorities. If you can, find something valuable to you and focus on it.
LINKS & RESOURCES MENTIONED
Global Genes
https://globalgenes.org/
MarylandRARE
https://marylandrare.org/
2022 RARE Patient Advocacy Summit
https://globalgenes.org/event/rare-patient-advocacy-summit/
Foundation For Sarcoidosis Research
ENERGY IN ACTION - EPISODE 061
Jacob Shinder and CPEO+
Jacob Shinder is a 22 year old college student who was diagnosed with CPEO+ at the age of 12. He joins us to talk about his experience and how it has shaped his goals for the future.
EPISODE HIGHLIGHTS
What is CPEO?
Chronic progressive external ophthalmoplegia (CPEO) is a drooping of the eyelids. I have CPEO+ which also causes overall body weakness, affecting my stomach and bowels, muscles and brain.
What symptoms were you experiencing that led to your parents seeking out a diagnosis for you?
In middle school, I'd often see double, which would come on and go away often. I went to the nurse one day when I could only see double in class. My mom reached out to my pediatrician initially and eventually was seen by multiple specialists. Eventually a muscle biopsy led to a diagnosis.
What is your current treatment for CPEO?
I take the mito cocktail, a lot of vitamins and medication for my heart.
What was school like for you?
In middle school and high school, I had an IEP which allowed for extra time on tests. More difficult than any academic struggles was the social aspect with kids asking me questions and teasing me. One of the better decisions I made was to participate in graphic design classes for half the day at a local technical college. I also worked part time through school.
What are you up to right now?
I just graduated college and I'll be going to NYU in the fall for social work. I work with a developmentally disabled person to take care of them through the day. I really want to help people and I feel like social work is a great way to do that.
CONNECT WITH JACOB
https://www.facebook.com/jacob.shinder
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 060
Meet the Bartels
Jake and Cami Bartle have been married for three years and they join us to share their rare disease experience and how the diagnosis has affected them as a young couple.
EPISODE HIGHLIGHTS
Cami, what is it like to be married to someone with a rare disease?
We didn't know that Jake had mitochondrial disease until 5 months after we were married. He had a seizure, was in the hospital and he received a diagnosis. Having a sudden diagnosis was shocking and made me realize nothing is guaranteed. At the beginning, the experience was isolating, but we've found community through the United Mitochondrial Disease Foundation, and I've been able to connect with more caregivers.
Jake, what do you do for a living?
I went to school and got my Masters degree in elementary education and I'll be teaching 6th grade social studies. After my diagnosis, I looked up life expectancy and it helped me to reflect and re-evaluate what I wanted to do with my life.
Cami, what do you do for a living?
I work in marketing and I'm thankful to work from home so I can better support Jake. I'm also thankful for a manager and team that are understanding when I have to be at doctors appointments or away from work to be more available to Jake.
As a young couple, how do you structure work/life balance and make every day count?
We try to have dinner together every night and watch tv together. We're intentional about not being on our phones when we're together and we take date night very seriously. We're intentional about the time we have together and we make sure to create time for each other.
How did you cope with receiving a diagnosis during the pandemic with limited resources available to you?
We both did individual therapy and we did some work together to get unstuck. Going through the diagnosis wasn't easy for either of us and we had to process through it individually for differing reasons. It took time to come to terms with the diagnosis and what it meant for our future. We're always working on controlling what we can and letting go of what we can't.
LINKS & RESOURCES MENTIONED
United Mitochondrial Disease Foundation
https://www.umdf.org/
Instagram: @us_and_melas
https://www.instagram.com/us_and_melas/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
PARENTS AS RARE - EPISODE 059
Owning My Story
Adam Johnson's world was turned upside down when he went from being a healthy 35 year old with an exciting path ahead, to a 35 year old with a rare disease that left him wondering what could have been. It's his story and he owns it and he adds to it through rare disease advocacy. As a self-proclaimed dadvocate, he learned to own his story through blogging, podcasting and sharing on social media.
EPISODE HIGHLIGHTS
In the early stages of his symptom manifestation and diagnostic process, Adam felt alone, as if he were the only person going through a similar struggle. No one he knew, especially at his age, was going through the same experience.
He knew there had to be others and initially used Twitter to turn his hopes of offering support and advocacy into action and connect with others who could support each other- @rarediseasedad was born.
While connecting with people he didn't know was intriguing, connecting with people he did know was scary because he would have to open up about himself and what he was going through. With each interaction, he hid behind his Twitter handle. With the realization that he was a husband, dad, son, brother, nephew, uncle, cousin, friend, neighbor and acquaintance who happens to have a rare disease, rare disease didn't define him, but it was a part of him and couldn't be ignored.
Adding his name to his account was how he decided to move forward, to be transparent and vulnerable in hopes that it would help someone else along the way. It was time to own his story and his advocacy journey has only further advanced his story into this podcast- Parents As Rare. Adam hopes to continue building a community of parents who are working through a rare disease, to connect, support and provide comfort for others.
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
Instagram @RareDiseaseDad
https://www.instagram.com/rarediseasedad/
https://www.linkedin.com/in/adam-johnson-8a1473125
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/<!--
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ENERGY IN ACTION - EPISODE 058
Life with Leigh’s
Krista Price is the mom of two children with Leigh's Syndrome. She shares her diagnosis journey and speaks to the importance of trusting your gut as a parent and advocating for your children to get answers.
EPISODE HIGHLIGHTS
Can you tell us about your mitochondrial disease journey?
My daughter Ellie is 8 and my son Henry is 6. Ellie started having developmental issues when she was four months old, mainly delayed in meeting milestones. She wasn't turning over, was sluggish, and not as active as you'd expect a baby to be. Within a few years, Ellie was behind in gross motor skills, fine motor skills and speech. Henry didn't exhibit the same symptoms. After a referral to a developmental specialist, Henry and Ellie were both scheduled for an MRI. The results revealed that the mitochondrial area of both of my children's brains were damaged and we were referred to a mitochondrial specialist to confirm a Leigh's Syndrome diagnosis. My kids were both prescribed the mito cocktail and they both responded well within a month.
How are your children doing today?
They're doing really well. We just had a follow-up appointment with the mitochondrial specialist and they're progressing and happy with where they're at. We still have to deal with potential defects of organs related to Leigh's Syndrome and mitochondrial disease in general. Ellie has a heart defect called Wolff-Parkinson-White (WPW) syndrome. Both Ellie and Henry have eye turns which affects their vision.
How do your kids manage having a rare disease?
They're very resilient, but they don't talk about it much. Ellie is more aware of the disease and the physical limitations of her body and it's been difficult to see her struggle with that. She's learning to navigate situations that arise at school.
What advice do you have for parents newly on their diagnosis journey or parents that suspect something is not right with their child?
You know your child more than anyone. If you think something is wrong, something is off, or something should be addressed by the doctor, challenge the doctor. Speak up and don't be afraid to.
As a caregiver, how do you find the balance of caring for your kids and caring for yourself?
I have learned the importance of managing my mental health. I think humor is so good to have in your life. I get comedic relief wherever I can. Educating myself about Leigh's Syndrome has helped me to cope as well. It's important to feel the hard feelings and then move on.
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.
ENERGY IN ACTION - EPISODE 057
TJ Strong
Jackie Bautz is the sibling to TJ, who has a mitochondrial disease called MELAS. She shares the story about her brother's diagnosis and what her family is doing to raise awareness and push for a cure.
EPISODE HIGHLIGHTS
Can you tell us about your family and your brother's diagnosis?
I come from a family with five siblings including myself and my younger brother TJ, who is 7 years younger. When TJ was born, he had failure to thrive issues, but overcame them and had a normal childhood until he was in middle school. Upon completing a school hearing test, he was referred to a hearing specialist where it was determined that he had 40% hearing loss, which he was born with. He was fitted with hearing aids and he went on to graduate high school and college. Two weeks after his college graduation, my parents called to tell me something was wrong with TJ, that they were rushing him to the hospital and weren't sure what was wrong. During a week in the hospital, he had two major strokes and was released from the hospital without answers. A week later, TJ was diagnosed with the mitochondrial disease called mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
How has the MELAS diagnosis affected your relationship with your brother?
It has been a learning process. Conversations are different since his strokes because he has to think about his responses, which can be uncomfortable. TJ still has the same interests as before so we can still connect on the same things as before, but there are limitations to what he can do, like working or driving.
How have your parents dealt with TJ's diagnosis?
They're very strong, but their plans for their lives has changed in that they moved to Florida to retire and travel, but they're caring for TJ and they can't leave him for more than a couple of hours at a time. It's been difficult, but they've stayed very strong.
Is anyone else in your family a genetic carrier for MELAS?
TJ is the only carrier. My mom and I underwent genetic testing and my mom isn't a carrier. This originated with TJ, which is even more rare.
Can you share about TJ Strong?
TJ Strong originated the first week when TJ was still in the hospital. We had t-shirts made and we started researching the disease to see what we could do for TJ and also the community. I came across MitoAction and we do a lot of fundraising and get involved in any events that we can. I'm running the Falmouth Road Race for MitoAction this August for the third year.
RESOURCES & LINKS MENTIONED
Falmouth Road Race
https://falmouthroadrace.com/
https://raceroster.com/events/2022/56070/the-2022-asics-falmouth-road-race/pledge/participant/14582580
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
ENERGY IN ACTION - EPISODE 051
Top 10 Tips for Empowerment & Being Your Own Advocate
Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for.
EPISODE HIGHLIGHTS
- Become an expert in your own disease
Get an accurate diagnosis because without a specific diagnosis, a lot of doors are closed to clinical trials, insurance coverage, participating in a patient registry or general eligibility for treatment. After you have a diagnosis, become an expert on your disease and diagnosis because no one will be invested in it like you are, whether for your child or yourself.
- Know your baseline
Baseline is a medical concept important for clinical trials. Determine your baseline by considering your average good days and bad days. Know and document your baseline so if you start a new treatment or therapy, you can identify how it's affecting your disease.
- Tell people about your disease and know how to ask for support
To set boundaries, use a script and be specific that you're not seeking advice, only support. Practice saying, "I'm going to talk to you about something I'm dealing with and I don't need your advice. I just want you to hear me and be there for support". If someone asks how they can help, provide options that would be helpful.
- Reflect like an interviewer
Allow questions to serve as an opportunity to raise awareness about your disease and always restate a question in your answer.
- Keep good records
Use technology to stay organized and ensure your medical records are accessible. Keeping thorough and well-organized records is easier for you, but also helps when you have an opportunity to participate in a clinical trial, research study or equipment grant.
- Stay informed
Subscribe to all of the newsletters on patient sites because knowledge is power. Set up Google alerts for keywords which will provide you a periodic digest around the keyword. You can also stay informed by joining social media or local support groups.
- Prioritize your symptoms and set goals
You won't be able to address every concern in every appointment, so prioritize your symptoms to discuss them with your physician. Daily tracking of your baseline data will help you know if symptoms are improving or getting worse and know if the symptom should be prioritized at your next check-up.
- Be a micro influencer
Documenting your journey can spread awareness to other people. Micro influencers in the disease space are respected and powerful because they make a difference.
- Hire yourself
You are the Director of Communications for yo
PARENTS AS RARE - EPISODE 055
Dr. Stephanie Mihalas - Find Your Balance, Find Your Center
Dr. Stephanie Mihalas is a licensed psychologist, nationally certified school psychologist and a mental health and chronic illness advocate. She's also a rare disease mom and she has a lot of valuable insight to share with parents.
EPISODE HIGHLIGHTS
Can you introduce yourself and tell us where your rare disease journey began?
I'm a psychologist and mental health and chronic advocate in Los Angeles, California. I'm also a wife and parent to a daughter in kindergarten. I've had chronic illness since I was 16 years old, but my rare disease journey began about a year after having my daughter.
How do you navigate rare disease with your husband and daughter?
With my training as a child psychologist, this weighs on me a lot. I know the things that create a space for a developing child and I feel like I'm failing or can't give my daughter the perfect space. We try to have transparency to the best of our ability that is appropriate for her. She knows I have an illness, she she's my injections, sees my medications and she knows what's going on. We have appropriate discussions so that when things change, I'm able to reference it so she doesn't internalize that she has done something wrong, as kids often do at her age, and help her to deal with frustration, sadness and feelings in an open way.
How can you talk to kids in a developmentally appropriate way about rare disease or chronic illness?
It's important to have a continuing dialogue, even as kids get older, and never to take for granted that a child through different stages needs conversations around the illness or disease. Children, teens and young adults carry an immense weight when a parent has a chronic illness or rare disease and it's important for a parent to take responsibility and check in with them periodically. With younger kids, language can be difficult, so incorporating movement during a conversation can be helpful. You can throw a ball, take a walk or do art. If a child doesn't want to talk, don't push it. Also make available someone for a child to talk to that isn't you, like a therapist, another family member or clergy.
CONNECT WITH STEPHANIE
The Center for Well Being
https://askdrstephanie.com/
Twitter @askdrstephanie
https://twitter.com/askdrstephanie
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
Instagram @RareDiseaseDad
https://www.instagram.com/rarediseasedad/
https://www.linkedin.com/in/adam-johnson-8a1473125
ENERGY IN ACTION - EPISODE 054
Advocate Like a Father
David Faughn shares his story about his daughter Katherine, how his family became part of the mitochondrial disease community and about the advocacy work he's doing in his home state of Kentucky.
EPISODE HIGHLIGHTS
Tell us about your daughter Katherine and her diagnosis journey.
Katherine hit all of the typical milestones for the first six months after she was born. At almost a year old, when we were expecting she'd be walking independently, she hit a plateau. We were no longer seeing a rapid development of her motor skills. Despite assistance through physical therapy and occupational therapy, Katherine still wasn't able to walk more than a couple steps without falling. At two years old, she was referred to a neurologist for an MRI and we started our journey with an incorrect diagnosis of Infantile Neuroaxonal Dystrophy (INAD), a rare progressive disorder, based on what the doctors gathered from the MRI. We got to know other INAD families, researched a lot of medical literature, connected with experts and quickly became convinced that Katherine didn't have INAD. Whole-exome sequencing results later revealed that Katherine had a mutation to a recessive nuclear gene called NUBPL.
What was it like to push through what you suspected was an incorrect diagnosis?
That was the first lesson we learned- that as Katherine's parents we had to fight. Getting a diagnosis is hard, treatments are rarely available, every step of the way there are hurdles to jump for the insurance company. The insurance company didn't want to cover genetic testing to confirm a diagnosis, which could open up treatment options. The rejection made me angry and I appealed to the insurance company, eventually getting the genetic testing approved.
Can you tell us about your work on Kentucky Revised Statute 304.17A-258?
The bill we got passed requires private insurance to cover mito cocktails. We started with an insurance denial for a mito cocktail for Katherine. I appealed to the insurance company to get the prescription for Katherine, but also started looking into getting the law changed so other families didn't have to go through what we did. I discovered a law that mandated private insurance covered certain therapeutic food, formulas and supplements for certain metabolic or genetic conditions. Looking at the way the statute was written, I believed it would cover mito cocktails. I decided to attempt to get the statute amended to include mito cocktails and remove the compounding pharmacy restriction.
RESOURCES & LINKS MENTIONED
NUBPL Foundation Website
http://www.nubpl.org/
NUBPL Foundation Facebook Page
https://www.facebook.com/nubpl.org
Kentucky Revised Statute 304.17A-258
https://apps.legislature.ky.gov/law/statutes/statute.aspx?id=45441#:~:text=Page%201-,304.17A-258
CONNECT WITH MITOACTION
ENERGY IN ACTION - EPISODE 053
Finding Help with the Cost of Medications
Carla Dellaporta is the Director of User Engagement for NeedyMeds, a 501(c)(3) national non-profit that connects people to programs that will help them afford their medications and other healthcare costs.
EPISODE HIGHLIGHTS
What is NeedyMeds?
NeedyMeds is a national non-profit with a mission to educate and empower those seeking affordable healthcare. We're here to connect people, free and anonymously, to healthcare cost-saving programs and educational resources.
How does a patient qualify for a patient assistance program?
If someone is having difficulty affording any healthcare expense, we encourage people to turn to NeedyMeds. Our experts will make a connection to a program that will help save on expenses. Each program has eligibility requirements and they vary. In speaking with a call center counselor or using our website, someone will know right away if they qualify for a program.
In addition to medication assistance, what other healthcare cost-saving programs are available?
After a call center counselor assists with any medicine expense programs available, they use the diagnosis-based assistance program tool to identify any additional savings for expenses related to a particular diagnosis. This tool can also be used on our website. There are programs available to help with expenses for equipment, electronics, vehicle repairs and modifications, living expenses, household expenses, medical expenses and even respite expenses.
What is the drug discount card and how do you use it?
The NeedyMeds drug discount card is free and can save on medication costs when used at over 65,000 pharmacies nationwide. There's a pharmacy search tool on the website, or you can call the toll free number, to find a pharmacy near you that accepts the NeedyMeds drug discount card. The NeedyMeds drug discount card can be used for prescriptions and also over-the-counter medications and supplements when your healthcare provider writes a prescription for them. Not every drug will have a savings option, but we have a drug savings calculator on our website where you can see what a medication will cost in advance of visiting a pharmacy.
Do you have to have insurance to qualify for assistance programs?
You can use the drug discount card with or without insurance. For other healthcare cost-saving programs, it will depend on the eligibility criteria for each program.
RESOURCES & LINKS MENTIONED
NeedyMeds Website
needymeds.org
Marcel’s Way Family Fund
mitoaction.org/marcelsway/
NeedyMeds Drug Discount Card
https://www.needymeds.org/drug-discount-card
Partner with NeedyMeds
PARENTS AS RARE - EPISODE 052
Lisa Weinberger - Be Your Own Advocate, Listen To Your Body, Take Control of Your Health, & Ask Questions
Lisa Weinberger is a wife, mother, digital marketing professor and business owner with over 20 years of experience designing and leading corporate marketing programs. We talk in this episode about balancing work and family while living in the world of rare disease and chronic illness.
EPISODE HIGHLIGHTS
When you were navigating a diagnosis, how did that affect your family at the time?
I was diagnosed with a rare disease called Pemphigus Vulgaris in 2018 after 30 years of varying symptoms. My disease rarely showed physical symptoms and I wasn't open with my daughter or in-laws who lived just down the street. Around the same time that I began getting blisters and was concerned about hiding them from my daughter, my husband had a heart attack which captured her attention more. Afterwards, I spoke with her about what was going on, explaining my auto-immune disease and the symptoms I was experiencing.
When things are especially challenging because of your disease, how do you push through the days?
I have a glimmer of hope and I know I've been in similar situations before. I am a fighter and have a mentality to keep going. I push myself and I'll continue to push myself with time to rest as needed, but I do tend to overdo it and not pace myself during the times I feel the best.
How do you adjust your life as a result of your circumstances and keep up with your family's activities?
My husband did a lot when my daughter was younger, like going to birthday parties and after-school activities. My good hours are earlier in the day, so we'd go to the park and spend time with her during the earlier hours of the day. We didn't have help at the time, so my husband and I worked together to balance everything. Now that my daughter is a teenager, she's more settled and independent.
What advice do you have for parents listening?
Children observe and understand more than we sometimes think they can, especially if they're a little older and have access to the internet. If they do have the ability to research things on the internet, sit down with them and show them where to find good sources of information about your disease. If your child is able to talk about it, keep communication open with them.
CONNECT WITH LISA
Website
https://pearlywrites.com/
Twitter @LisaWeinberger
https://twitter.com/lisaweinberger
Linkedin @pearlywrites
https://www.linkedin.com/in/pearlywrites/
RESOURCES MENTIONED
It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand
https://www.amazon.com
ENERGY IN ACTION - EPISODE 051
Top 10 Tips for Empowerment & Being Your Own Advocate
Cristy Balcells is the Associate Director of Patient Advocacy and Public Policy for Zogenix and the mother of Eva, who has Leigh Syndrome, a type of mitochondrial disease. Christy joins me for a conversation around empowerment and shares her list of 10 tips for being a great mitochondrial disease advocate for yourself or someone you care for.
EPISODE HIGHLIGHTS
- Become an expert in your own disease
Get an accurate diagnosis because without a specific diagnosis, a lot of doors are closed to clinical trials, insurance coverage, participating in a patient registry or general eligibility for treatment. After you have a diagnosis, become an expert on your disease and diagnosis because no one will be invested in it like you are, whether for your child or yourself.
- Know your baseline
Baseline is a medical concept important for clinical trials. Determine your baseline by considering your average good days and bad days. Know and document your baseline so if you start a new treatment or therapy, you can identify how it's affecting your disease.
- Tell people about your disease and know how to ask for support
To set boundaries, use a script and be specific that you're not seeking advice, only support. Practice saying, "I'm going to talk to you about something I'm dealing with and I don't need your advice. I just want you to hear me and be there for support". If someone asks how they can help, provide options that would be helpful.
- Reflect like an interviewer
Allow questions to serve as an opportunity to raise awareness about your disease and always restate a question in your answer.
- Keep good records
Use technology to stay organized and ensure your medical records are accessible. Keeping thorough and well-organized records is easier for you, but also helps when you have an opportunity to participate in a clinical trial, research study or equipment grant.
- Stay informed
Subscribe to all of the newsletters on patient sites because knowledge is power. Set up Google alerts for keywords which will provide you a periodic digest around the keyword. You can also stay informed by joining social media or local support groups.
- Prioritize your symptoms and set goals
You won't be able to address every concern in every appointment, so prioritize your symptoms to discuss them with your physician. Daily tracking of your baseline data will help you know if symptoms are improving or getting worse and know if the symptom should be prioritized at your next check-up.
- Be a micro influencer
Documenting your journey can spread awareness to other people. Micro influencers in the disease space are respected and powerful because they make a difference.
- Hire yourself
You are the Director of Communications for yourself or your child's diagnosis. Provide updates and check in regularly with everyone on your team and keep developing relationships in your network.
- Amplify your voice
Your experience is valuable and only you can share it. No one else can represent your experience. Participate in clinical trials, patient registries, surveys and interviews.
RESOURCES & LINKS MENTIONED
Zogenix
https://zogenix.com/
MayBeMito
https://www.maybemito.com/
MitoAction Mobile
https://www.mitoaction.org/mobile_new/
AllStripes
https://www.allstripes.com/
UMDF
https://www.umdf.org/
Cure Mito
https://www.curemito.org/
International Mito Patients
https://www.mitopatients.org/
Mito Canada
https://mitocanada.org/
Create a Google Alert
https://support.google.com/websearch/answer/4815696?hl=en
Life with a Vent
https://www.youtube.com/channel/UCHwOT3pjEA3EgShKomTuTDw
The Mito Girl
https://www.instagram.com/themitogirl
Jeremiah Gracen TK2D Warrior
https://ne-np.facebook.com/JeremiahGracenTK2DWarrior
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 050
You Never Give Up Hope in Life
Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope.
EPISODE HIGHLIGHTS
When did you first experience symptoms?
It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye doctor wasn't sure what was causing my symptoms. One day, I couldn't see and went back to see my eye doctor where I received a referral to a cornea specialist. I was referred to another specialist for a biopsy and received a diagnosis of a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO).
How was your wedding centered around mitochondrial disease?
Watching a sports program one day, I noticed Ken Rosenthal was wearing a mito bow tie. I wrote to him, introduced myself, told him I was getting married and that I noticed his bow tie. I ordered the same bow ties for the men in the wedding party and the bridesmaids wore green dresses. During the wedding, my nephew spoke about the meaning of the bow ties and the disease they represented. My wedding was one of the best days of my life, I felt great and I had the wedding of my dreams.
What has life been like since your wedding?
I have since begun having issues with my legs and my disease has now spread to my legs and arms. I've been forced to slow down. I had to mourn the loss of my career and success. But I work from home for my husband's law firm now and I'm finding my purpose despite CPEO and its progressing effects.
RESOURCES & LINKS MENTIONED
Bride Raises Mito Awareness
https://www.mitoaction.org/bride-raises-mito-awareness/
Luna
https://www.getluna.com/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 049
Living Rare - An Adult's Perspective
Fred Jacobowitz has been diagnosed with Carnitine Palmitoyltransferase Type II (CPT-II/CPT2) Deficiency, a type of fatty acid oxidation disorder. He shares his diagnosis experience, lessons learned and what his rare disorder journey has been like.
EPISODE HIGHLIGHTS
When did your CPT2 symptoms begin?
I had difficulty keeping up with other kids when I was young. In high school, I excelled in the sport of swimming, but after workouts I had difficulty climbing out of the pool. In college, I kept getting rhabdomyolysis, the breakdown of damaged muscle which results in the release of muscle cell contents into the blood, which can further lead to kidney failure. It wasn't until I was an adult that I was diagnosed with adult onset myopathic CPT2.
At what point did you realize your symptoms were serious and you needed to seek answers?
Years later after I was married and had kids, I started experiencing chest pain and was told I was having a heart attack after undergoing a stress test. My wife introduced me to a cardiologist who just started his own practice. He looked over my medical history and determined I didn't have a heart attack at all. I told him about my symptoms and he recalled a speaker he heard at a conference and said I had some sort of metabolic muscle disorder. He referred me to an endocrinologist, who was confident that I had CPT2 and could prove it through a series of tests. Not the symptoms I experienced from childhood, but the heart attack is what brought me to a diagnosis.
What primary symptoms do you experience with CP2?
People express symptoms differently at different times. For me, if I overdo it I get tired, I get muscle fatigue and lightheaded. I started taking Triheptanoin (C7), which helps to manage my symptoms in addition to diet and exercise. Before I started taking C7 I would get very sick and now I get sick and recover like a normal person would.
How did receiving a diagnosis impact your life?
I learned about what my diet should be like, what exercise should include and how to walk the tightrope between building and breaking muscle. My physician suggested I participate in a clinical trial, which was a turning point in my journey.
RESOURCES & LINKS MENTIONED
What can you do despite CPT Type II (CPT2) Facebook Group
https://www.facebook.com/groups/CptType2/about/
Ultragenyx
https://www.ultragenyx.com/
2022 International Metabolic Conference
https://www.mitoaction.org/internationalmetabolicconference/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
PARENTS AS RARE - EPISODE 048
Parenting & Living Life With Chronic Pain - Ross McCreery
Ross McCreery is a dad, husband, advocate, writer and speaker. In 2006, Ross was diagnosed with a rare disease called Complex Regional Pain Syndrome (CRPS). In 2016 he founded CRPS Awareness Day in Saskatchewan to educate the public and raise awareness for those living with the disease. Ross also serves as a board member for the SaskPain Foundation where he hopes to help improve and change the lives of those living with chronic pain. He also advocates and speaks to serve as a voice for those who suffer chronic pain, he's authored several published pieces, appeared on television programs and believes in the power of a strong community of rare disease advocates with diverse voices who can encourage change and progress for all.
EPISODE HIGHLIGHTS
Can you tell us a little bit about yourself and your rare disease diagnosis story?
I was successful in my career, I was married and life was going in the direction I wanted it to go. I had just came back from China after adopting my first daughter and had what should have been a simple surgery. The swelling and loss of mobility in my hand that resulted was the onset of my disease symptoms and Complex Regional Pain Syndrome (CRPS) diagnosis journey.
What was your experience like discussing your CRPS diagnosis with your children?
We say it how it is and believe in transparency. From the earliest age that they could understand, we had conversations with them about how things needed to be done differently. Having conversations with our kids and being honest and up front with them was a daily occurrence, especially as we adapted and changed.
How have your conversations evolved as they've grown older?
Conversations are simpler now because they understand better and have a background living with it for awhile. We don't have to explain as much, they're more understanding of the situation and can figure out a lot themselves. We still have conversations with them at times as things continue to happen or change.
What wisdom do you have to share with listeners?
We don't value our stories enough. Our stories are our power and it's the power of the story that touches people. I encourage people to share their story.
CONNECT WITH ROSS
Contact
https://painfullyoptomistic.com/contact-me
https://www.instagram.com/painfullyoptomistic/
https://twitter.com/Rossco006
https://www.facebook.com/Painfully-Optomistic-192150737539022/
RESOURCES MENTIONED
Painfully Optomistic Blog
ENERGY IN ACTION - EPISODE 047
The Strength of a Mom
Tonie DeLorenze is impacted by mitochondrial disease herself and also has three children with mitochondrial disease.
EPISODE HIGHLIGHTS
What has your journey been like with mitochondrial disease?
I was an athlete in high school, but always had issues with breathing and lung capacity. As I got older, more symptoms developed, all related to my endocrine system. I had twins in 1995, had another child in 1997 and another in 2000. In 2000, I had a heart attack, had to have my thyroid removed, developed PCOS and a lot of other endocrine-related issues began surfacing. I discovered that I had mitochondrial disease through testing performed on my children, who also have mitochondrial disease.
What is your advice for parents who feel they need to advocate for their children and push for a diagnosis?
I believe you know your child better than anyone. Do your research, ask questions and push for answers.
What's your advice for parents newly on the diagnosis journey?
Control your fear. It's normal for a parent or someone who doesn't feel right to be afraid of what it could be. I had no one to talk to or turn to for support, but if you have someone to support you, seek them out. If you don't, reach out to me. As difficult as it is, stay positive and stay strong. It doesn't help anyone if you're not in a headspace of positivity. Lastly, never ever compare your child to another child. As a caregiver, find a way to carve time out for yourself and squeeze in selfcare.
From a mother's perspective, what did you need from those around you that you didn't get when you were navigating your journey with young kids?
Just be there to talk and offer a sense of normalcy. I was so tired and would have loved to have time to sleep and shower. I went through a dark time and it didn't have to be that way. It was bad enough that my kids were sick, but with a little support from people who were in my life before my kids were born, it would have been life changing for me.
RESOURCES & LINKS MENTIONED
Peach: An Exceptional Teen's Inspiring Journey for Universal Acceptance
https://www.amazon.com/Peach-Exceptional-Inspiring-Universal-Acceptance/dp/1539367339/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1646425842&sr=1-1
Peach: Celebrating Life in the Shadow of Death
https://www.amazon.com/Peach-Celebrating-Life-Shadow-Death/dp/198750142X/ref=sr_1_1?qid=1646425904&refinements=p_27%3AJenevieve+%28Peach%29+Woods&s=books&sr=1-1&text=Jenevieve+%28Pe
PARENTS AS RARE - EPISODE 046
Family Coping, Communication, & Mental Health Resources - Dr. Jennifer Young, Postdoctoral Scholar, Biomedical Ethics - Stanford University
Dr. Jennifer Young is a trained marriage and family therapist who has focused her research on families with rare genetic conditions. Her goal is to improve family coping, communication, and access to mental health resources for the rare disease community, especially for the under-served.
EPISODE HIGHLIGHTS
Can you introduce yourself?
I'm a marriage and family therapist by training and I have a PhD in family science, the study of family relationships. Most of my work has been around families with rare genetic conditions. I've been working closely with the undiagnosed diseases network at Stanford and doing in-depth interviews with families. My goal is to build awareness about the challenges for individuals and families in their relationships and to build awareness for mental health providers so they can meet their unique needs.
How does your work impact your mental health?
One of the first lessons I learned is how to be present for clients, but to put that outcome in a box and move on. It's not always easy. Having a supervisor and solid group of colleagues to debrief and get feedback is helpful.
How does someone find resources if they need support?
A primary care provider will likely know someone they can refer. Insurance companies will also have covered providers available online or by calling. Psychology Today has has a therapist locator tool to perform a detailed search and refine results. What's most important is feeling connected to your therapist, so ask for a referral to another therapist if you need to.
For families going through genetic testing for various health conditions, how do you help people cope with a VUS outcome or lack of answers?
It's important to focus on what someone has control over, like managing symptoms and ensuring they're getting quality care for symptoms that can be managed. A lot of times, the benefit of whole genome sequencing or whole exome sequencing is more psychological or social, not clinical.
What advice do you have for parents going through diagnosis themselves?
The fear and emotion of parents often contributes to the weight of conversations with children. Kids are very resilient, but it's important to manage emotions so children don't feel the need to regulate a parent's emotions. Be in-touch with yourself and ensure you have the resources you need so you can have an open line of communication with your children.
CONNECT WITH JENNI
https://twitter.com/JenniYoungPhD
youngjl@stanford.edu
RESOURCES MENTIONED
Psychology Today Therapist Finder
https://www.psychologytoday.com/us
FOLLOW ADAM JOHNSON
ENERGY IN ACTION - EPISODE 045
Live Life, Dream Big, Be Positive
Stacy and Ari Goldberg share the story of their Mito Warrior. Rina lived an authentic be-positive life. She faced multiple medical challenges with resiliency and left a legacy of an award-winning film, The Magic Bracelet.
EPISODE HIGHLIGHTS
Can you tell us about Rina's mito journey?
Rina had medical difficulties from the time she was born. She experienced fevers, overheating, developmental delays, low muscle tone, difficulty walking and other symptoms. She was diagnosed with mitochondrial disease in 2004. Shortly after, she suffered a metabolic stroke and she was given a nasogastric (NG) tube and feeding tube. Rina's blood pressure and heart rate required monitoring and caused her to be hospitalized several times. A jejunostomy tube, also called a J-tube, was placed to help her get constant fluids. Just after that, she had a port inserted to have IV fluids running 24/7 so she could live at home. In 2009, Rina suddenly couldn't walk after an infection in her legs. Despite treatment, Rina never walked independently again. We began a downhill journey of serious crises. A few months later, Rina's night nurse wasn't able to control her breathing and she was admitted to the hospital. Her treatment included being on a ventilator, which later required a trach tube and constant use of the ventilator to breathe.
What is your advice for new parents on a diagnosis journey who want to advocate for their child?
Every doctor is not an expert on every medical issue, so if you feel like a doctor isn't acknowledging a concern, find another physician. When finding a doctor and building your medical team, follow your gut and look for those who are open to listening and who are parent and child driven.
Can you share about The Magic Bracelet?
Rina was very creative, and with the help of a family friend, she took an interest in coming up with a film concept to bring attention to mitochondrial disease. She wanted to spread awareness through a fun and witty film. Medical truth and authenticity was important to convey in the film, but despite mitochondrial disease not having a cure, the film doesn't have a sad ending. Rina went on hospice in September 2010 and she asked me to promise to take care of her film and get it to Hollywood. The Make a Film Foundation took Rina's film on as a project and in December 2012, The Magic Bracelet, was produced in Hollywood.
RESOURCES & LINKS MENTIONED
Rina's Magic Bracelet Movie Facebook Page
https://www.facebook.com/magicbraceletevent/
The Magic Bracelet Website
https://www.rinasmovie.com/
Make A Film Foundation
www.makeafilmfoundation.org
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
Facebook<
ENERGY IN ACTION - EPISODE 044
Removing Barriers in Ultra-Rare
Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes.
EPISODE HIGHLIGHTS
Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community?
My 6 year old daughter Daphne was diagnosed at a year old after a six month diagnosis journey. My daughter's disease has two names- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) and Combined oxidative phosphorylation deficiency 12 (COXPD12). Daphne is primarily affected by speech delay, hypotonia, and global delays in learning and performing everyday tasks.
Ashley, can you introduce yourself and tell us how you're connected to the mitochondrial disease community?
My daughter Aubrie is three and a half years old and she has a disease called leukoencephalopathy with ovarian failure (LKENP) from the AARS2 gene. She was diagnosed at 2 years old.
Can you share about Cure ARS?
It started as discussions around how we could raise money for research and how we could help our kids and other families. In order to fund a research project, we started the nonprofit. Our mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure.
Can you share details about the symposium coming up in February?
The Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium is a one day event on February 10, 2022 and will feature world-renowned doctors and researchers. The goal of the symposium is to bring worldwide collaboration between researchers and clinicians to build a stronger working relationship and put patient faces to the data and the impact they're making.
Does Cure ARS have a patient registry?
We have a registry through CoRDS at Sanford Health, which will be launching soon.
RESOURCES & LINKS MENTIONED
Daphne's Lamp
https://www.daphneslamp.com/
Cure ARS
https://www.curears.org/
Cure ARS on Facebook
https://www.facebook.com/curears
Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium
https://www.curears.org/symposium
ARS Gene Community
https://www.facebook.com/groups/ars.gene.community
PARENTS AS RARE - EPISODE 043
Cowden Syndrome & Male Mental Health - David Ross
David Ross is a rare disease leader in men’s mental health. He plans and hosts valuable international support calls focused on men's mental health in the rare disease community. David is also a dad with a rare disease called Cowden Syndrome.
EPISODE HIGHLIGHTS
How did finding out about your disease shape your relationship with your daughter?
I felt I wasn't supportive enough to my mother when she was facing Cowden Syndrome. When I was diagnosed with the same condition after she passed, while I couldn't go back and change how I supported my mother, I could support others. Looking back, I focused a lot on advocacy and my mother’s legacy. I've shifted my focus in the last year to my daughter and myself. My daughter needs more support and we need more time for us, and our relationship has become better because I've recognized and acted on that.
When did men's mental health become a focus of your advocacy?
Someone brought to my attention that a lot of men in the rare disease community didn't seek support or speak out about what they were going through. As I searched for my voice in the rare disease community, I decided to set up international group meetings for men who need a platform to share what they're going through and get mental health support.
What was your experience opening up about your feelings, thoughts and struggles for the first time?
After my mother passed away and in wanting to make a difference for myself and others, I felt strongly that I needed to speak out about what I was going through and how I was impacted. It has taken time to learn how to speak up, what to say and what not to say. While it was scary, connecting with others in the community continues to help me and inspires me to get my story out.
What is your advice for other parents with a rare disease?
Feel the feelings. There are so many feelings and emotions that come with chronic illness and rare disease, and you need to give yourself permission to feel all of them when they arise. Sometimes writing down what you're going through can help to express your feelings.
RESOURCES MENTIONED
ONCE UPON A GENE - Episode 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
https://effieparks.com/podcast/episode-114-noah-siedman
Rare Revolution Magazine, Advice From Rare Dads: Top Tips for Rare Parents
https://rare-revolution-wp-images.s3.eu-west-1.amazonaws.com/wp-content/uploads/2021/10/19100033/Top-Tips-from-RARE-Dads-for-RARE-Parents-Final.pdf
Rare Disease Male Support Group
ENERGY IN ACTION - EPISODE 042
Empowering Parents Nationwide
Marsha Quinn is the parent of two children who have Autism. As the Co Executive Director for Parent to Parent USA, she joins us to share the organization's mission and the resources they provide to parents of children with disabilities.
EPISODE HIGHLIGHTS
Can you tell us about Parent to Parent USA?
Parent to Parent USA was started about 50 years ago with a group of moms in Nebraska who wanted to provide parents of children with disabilities with peer to peer emotional support. Parent to Parent USA now has 36 statewide alliance members across the US and we're growing to all 50 states and territories. The mission of Parent to Parent USA is to ensure that all families have access to peer to peer emotional support. A family of an individual with any disability or special healthcare need can contact us for help and we will match them with a trained support parent. It's a free intervention that we find helps people get through life and get through their child's disability or diagnosis.
What does volunteer training consist of?
It's all research and evidence-based training. We train on self care, cultural competency or humility, active listening, grief and many other elements. Each of our alliance members have their own training. Part of the process is ensuring each person is put into a database and categorized so they can be matched based on varying parent needs or diseases.
How does Parent to Parent USA expand and develop into additional areas?
We've created strong and robust committees between the board and volunteers from the network, part of which is a membership committee. One of the membership committee's goals is to grow to all 50 states, to better engage with our existing members, and offer more value for memberships through training, engagement, and networking opportunities. As a committee, we're seeking other organizations in states we're not in that we can partner with, then we reach out to see if they're interested in adopting our program.
CONNECT WITH PARENT TO PARENT USA
Website
https://www.p2pusa.org/
memberinfo@p2pusa.org
https://www.facebook.com/p2pusa
https://www.instagram.com/p2pusa/
RESOURCES MENTIONED
Alliance Member Map
https://www.p2pusa.org/parents/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
ENERGY IN ACTION - EPISODE 041
EveryLife Foundation Newborn Screening
The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn screening process, a full panel containing 35 disease screens.
EPISODE HIGHLIGHTS
What is newborn screening?
Newborn screening detects conditions that, if left untreated, can cause disabilities, developmental delays, serious illness or even death. If diagnosed early, many of these disorders can be managed successfully. Newborns are screened for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to testing, newborn screening programs consist of educational and resource materials for parents and training for healthcare professionals.
How can the community get involved?
Anyone can get involved by reaching out and contacting their senators about Senate Bill 350 and the importance of this legislation for the community. Let them know that you support the Newborn Screening Saves Lives Reauthorization Act as it is currently written.
Why don't all 50 states conduct the same newborn screening?
The disorders that newborns are screened for is set at the state level and each state implements their screening program differently. We're working to pass RUSP Alignment Legislation so that as disorders are added to the RUSP, states will automatically add these disorders to their newborn screening panels. The newborn screening legislation aims to align states, implement a timeline for screening to begin, and ensure resources are available for states to fund newborn screening panels and any disorders added to it in the future.
How is a new diagnosis added to the Recommended Uniform Screening Panel (RUSP)?
This is done through the Federal Advisory Committee, Heritable Disorders in Newborns and Children, which is under the Health Resources and Services Administration (HERSA). The advisory committee looks at properly identifying newborns, properly treating newborns and the overall benefit.
How many newborns are identified annually through newborn screening as having one of the 35 diseases?
The current estimation is approximately 1 in 300 newborns, though some states are not testing for all 35 diseases on the federal RUSP.
CONNECT WITH EVERYLIFE
Website
https://everylifefoundation.org/
EveryLife Foundation for Rare Diseases on Facebook
https://www.facebook.com/EveryLifeOrg/
EveryLife Foundation @EveryLifeOrg on Twitter
https://twitter.com/EveryLifeOrg
ENERGY IN ACTION - EPISODE 040
Silver Linings with Sarah Kate
Sarah Kate Frey is a mitochondrial disease patient who is always looking on the bright side, seeking silver linings in the darkest experiences. She is the author of Alice Eloise’s Silver Linings: The Story of a Silly Service Dog and is in the process of writing a second book about her friend and service dog, a doodle named Alice Eloise.
EPISODE HIGHLIGHTS
How are you connected to the mito world?
Like a lot of patients, my path to a mitochondrial disease diagnosis was not a straight line. At about 12 years old, I came home from horseback riding camp really sick with a high fever and a staph infection in my throat that had me sick for months. I landed in the ER numerous times in a year for extreme dehydration and high inflammation markers. The following year in dance class, I sprained my ankle. Within the week, I received a Reflex Sympathetic Dystrophy (RSD) and Complex Regional Pain Syndrome (CRPS) diagnosis. Not long after, I had extreme GI symptoms and saw a gastric motility doctor who did gastric emptying studies and further testing. I was diagnosed with Gastroparesis and then later with Hemophagocytic lymphohistiocytosis (HLH). What led to a mitochondrial disease diagnosis was tying everything together.
Can you tell us about Alice Eloise and how you came to author children's books?
I love dogs and wondered how a service dog could help me. My sweet doodle, Alice Eloise, and I are a self-trained service dog team. She's my silver lining through being sick, so silver linings has become a mission for me. I decided to write a book about a girl and her dog, about silver linings and looking on the bright side. When Alice Eloise came along and stole my heart, it was time to tell our story. And that's what we're doing. The first book is written through the puppy eyes of Alice Eloise and her perspective of becoming a service dog. The biggest lessons from the story are no matter what you're going through, look for silver linings, never give up and seek the beauty in the world.
What will the second book be about?
It's about a trip to the zoo with Alice Eloise, which started out as a scene in the first book. We ended the first book after her service dog test, so I decided to add to the story with another book. The premise of this book is about being someone else's silver lining, and knowing that some of the best silver linings in life are the people around us and our interactions with one another.
RESOURCES MENTIONED
Alice Eloise’s Silver Linings: The Story of a Silly Service Dog
https://sarahkatessilverlinings.com/once-upon-a-silver-lining-store/
Sarah Kate's Silver Linings Blog
https://sarahkatessilverlinings.com/blog/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
PARENTS AS RARE - EPISODE 039
Chronically Simple & Simply Unbreakable - Kristy Dickinson
Kristy Dickinson is a wife and mother of three, navigating life with multiple rare diseases. She's the founder of Chronically Simple, a digital health app that empowers patients and allows them to take control over their healthcare. She writes a blog and also co-hosts a podcast called Simply Unbreakable.
EPISODE HIGHLIGHTS
Can you share a bit about yourself?
I am a rare disease patient with Ehlers-Danlos Syndrome (EDS), a genetic connective tissue disorder. I also have comorbidities that accompany EDS including Mast Cell Activation Syndrome (MCAS), Medullary Sponge Kidney (MSK), Ankylosing spondylitis (AS), and an esophageal disorder that is still being diagnosed. I have been married to my husband Simon for over 20 years and I'm a mother to three children who are 9, 12 and 14 years old.
What was your diagnosis journey like as it relates to your family?
My health deteriorated with each pregnancy. When I was going through it, the doctors didn't know what was wrong. When I was struggling without a diagnosis and then after I was first diagnosed, I had to adjust the narrative in my head around my hopes and dreams, what I thought my family would be like, how I would parent and show up as a wife. I went through a period of mourning and struggled with it.
How are you using your own childhood experience to support your kids through their experience?
My mom was an incredibly strong and stubborn woman and my dad often shares that we are very similar, which I take as a compliment. I think you have to be stubborn to live with chronic illness every day. My parents worked really hard to give my sister and I as normal a childhood as possible. I never wanted my kids to have fear of my prognosis or feel like their time with me is limited. So I fight, I work every day to be present with them and keep my focus and priorities where they should be.
How do you help your kids cope?
I'm very honest with them. I struggle to know how much information I should give them and how to have those conversations because I don't want them to worry. We have very honest conversations about how they feel. They also each have a therapist they can talk to as they want.
CONNECT WITH KRISTY
Twitter @simplykristyd
https://twitter.com/simplykristyd
Instagram @chronicallysimple
https://www.instagram.com/chronically_simple
Facebook @chronicallysimplelife
https://www.facebook.com/chronicallysimplelife/
RESOURCES MENTIONED
Chronically Simple Blog
https://www.chronicallysimple.com/blog
Chronically Simple Website
ENERGY IN ACTION - EPISODE 038
Patient Led Trials
Steve Smith is a rare disease advocate, father, and a fierce fighter for rare disease patients.
EPISODE HIGHLIGHTS
How did you become a rare disease advocate?
My advocacy started when my three year old was diagnosed with a rare disorder in 1990. My focus was on our family, but I also began looking to see what can be done medically and I was also pretty quickly introduced to the world of clinical research. I attended a conference where a doctor presented a breakthrough in genetic medicine. About ten years later, there was a clinical trial for a disease which is biochemically related to my son's disease. Through a decade of advocating, I realized all diseases are interrelated and of the regulatory hurdles to rare disease drug development.
What can families do to advocate for themselves and for their children?
Time is definitely of the essence when talking progressive diseases. There's a tug-of-war in the healthcare system, in the regulatory process and drug development, between safety and speed. As parents, we want speed. But things can be different than they were because we have modern science, advanced computing, more knowledge of the human genome, sophisticated collaboration. We can have safety and speed. Collaboration is important where families are increasingly part of the healthcare system. Newly diagnosed families should use their voice and collaborate.
How does the 21st Century Cures Act impact rare disease patients?
Rare disease advocates worked hard on the 21st Century Cures Act and it was a turning point in legislative change. What it did for rare disease drug development was allowed for an improvement of breakthrough therapy designation. It's based on progress, on what's really happening in the world. It also strengthens biomarker guidance, a way of having an interaction around a biomarker and proposed data before too many months pass.
Can you talk about newborn screening and how to support that effort?
Everybody can find details And you can do that on the EveryLife Foundation For Rare Disease website. They are one of the organizations for rare diseases that is advocating for newborn screening. When a baby is born, hospitals do a heel prick and check their blood for diseases, but what diseases are checked for is what's at issue. Newborns are not screened to see if they have many progressive diseases. To get a disease on the Recommended Uniform Screening Panel (RUSP) takes years. Then states decide whether they're going to test at their hospitals. EveryLife has a bootcamp for advocates available to anyone who wants to learn how to talk to their legislator about newborn screening.
RESOURCES MENTIONED
EveryLife Foundation
https://everylifefoundation.org/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
<
ENERGY IN ACTION - EPISODE 037
The Patient Teacher Program
Jake Athoe is a graduate of Boston University, where he earned a Bachelor of Arts in Biochemistry and Molecular Biology, with a minor in Public Health. During his time at BU, Jake’s interest in metabolism and genetics led him to a four-year research assignment in a lab focused on mutation’s in the energy production of carcinogenic cells. Jake’s graduate work to date has been at the Boston University Medical School, where he studied Genetic Counseling. This program included an intense two month internship working with the medical staff at Washington Children’s National Hospital on pediatric and metabolic disorders. Currently, Jake is advocating for patients with rare genetic metabolic disorders.
EPISODE HIGHLIGHTS
Can you share details about the patient-teacher registry program and how people can get involved?
We hope to raise awareness for people that don't have that voice and we want to raise that voice for anyone that doesn't have it. People can get involved by going to our registry page on the VMP Genetics website. Patients, parents, and anyone can be involved. We hope to also involve practitioners, nurse practitioners, nurses, students, genetic counselors and doctors.
What are some of the stories that you've been hearing from patients?
It feels like a lot of patients have not heard their stories told by anyone. And they end up in the emergency rooms with nurses and physicians who don't have their stories told, and that's what we want to change.
RESOURCES MENTIONED
VMP Genetics Website
https://www.vmpgenetics.com/
Patient Teacher Registry
https://www.vmpgenetics.com/edu-services/patient-teacher
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
PARENTS AS RARE - EPISODE 036
Parenting with VCP Disease - Nathan Peck
Nathan Peck is a husband, dad, VCP patient and the CEO of Cure VCP Disease. Through this organization, he is committed to bringing together patients, caregivers, researchers, pharmaceutical companies, other non-profits and investors to identify treatments and ultimately a cure for this rare, genetic disease.
EPISODE HIGHLIGHTS
What is VCP Disease?
VCP disease is caused by a mutation in a gene called Valosin Containing Protein (VCP). I grew up with VCP, my mom and aunt are deceased from it and I have two uncles still living with the disease. VCP is a Multisystem Proteinopathy (MSP1) which means it affects multiple systems in the body, Inclusion Body Myopathy, Paget's Disease of Bone, and / or Frontotemporal Dementia. VCP can also cause disorders such as Amyotrophic lateral sclerosis (ALS), Parkinsonism or Charcot-Marie-Tooth disease. There's not a full understanding of the disease yet, so our focus is on finding families affected. We started Cure VCP Disease to organize the patients and science and facilitate collaboration.
How has your family history changed the trajectory of your journey?
VCP has been the black curse of the family and we knew there was a chance of developing systems at some point. Once I started experiencing systems, I decided to engage and do what I could do to influence change. With the availability of information and accessibility of the internet and social media, it's easier to get involved and learn. There's not going to be a fix for me, but there can be for my kids.
As a dad, thinking back to your diagnosis, what do you remember most?
I remember trying to keep it from my kids because we assumed they weren't old enough to deal with it. We realized later that we needed to be more transparent about what was going on.
How have you adjusted the activities you do with your kids and how do you interact with them now with your limitations?
We play games and spend time as a family. I'm just going to progress forward and keep making memories with my kids. My goal is to do as much as I can while I can.
What would you say to a parent with a rare disease or chronic disease?
Only you know what you can do, but don't settle. Keep pushing and adjust where you have to. Find a balance and care for yourself so you can be present for your kids and those moments that matter.
RESOURCES MENTIONED
Permission to Feel by Marc Brackett Ph.D.
https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847
TravelScoot
https://www.travelscoot.com/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
ENERGY IN ACTION - EPISODE 035
The MitoSantas Program
We're in the Christmas spirit at MitoAction. Jeannie Freeman and Stephanie Tomlinson discuss the popular MitoSantas program. Tune in to learn more about how you can support the program, how to become an elf or a recipient.
EPISODE HIGHLIGHTS
What is the history of the MitoSantas program?
MitoSantas started in western New York in 2009 when a group of moms attending a support group meeting shared their struggles around Christmas time. People began offering to donate money and from then on, local families came together to support each other year after year to ensure mito kids had a great holiday. The program grew and eventually MitoAction got involved.
How many kids participate in MitoSantas?
The program is for kids affected by mitochondrial disease and siblings of those kids. Last year we had over one hundred kids.
Can families apply every year?
Families can apply annually. Each year we open an application asking questions about the child— favorite color, character, sports team, snacks, clothing sizes. The application asks the same questions for siblings.
How is the MitoSantas program funded?
We submit grant requests and obtain corporate sponsors. Since the program started in 2009, there has been a generous sponsor who chooses to stay anonymous and he accounts for a significant portion of the funding. We fundraise through different events that support the program and donations are also appreciated.
How do you become an elf?
Being an elf is an important part of the program. As a small staff, we can always use help to field requests, shop for gifts, wrap gifts and ensure gifts are delivered by Christmas. No matter where you live, there are elf duties you can do. Anyone who wants to volunteer can email info@mitoaction.org.
RESOURCES MENTIONED
MitoSantas Recipient Application
https://www.mitoaction.org/mito-santas/application/
Support MitoSantas Program
https://give.mitoaction.org/campaign/mitosantas/c240360
MitoSantas Program Page
https://www.mitoaction.org/mito-santas/
MitoSantas on Facebook
https://www.facebook.com/mitosantas
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.faceboo
ENERGY IN ACTION - EPISODE 034
Meet The Mito Girl
Daniela Gallo shares her journey of living with mitochondrial disease while balancing motherhood, working, spreading awareness and caring for herself.
EPISODE HIGHLIGHTS
Can you share your diagnosis?
I have Kearns Sayre Syndrome (KSS), which I was diagnosed with four years ago, at the age of 31. I started showing symptoms when I was 12 years old, in the form of a droopy eyelid. Doctors speculated that muscles just didn’t develop well. And then I had an eye infection, went to the hospital and the ophthalmologist asked me to follow his finger so he could check my eye movement. I was surprised to learn that I had no ocular movement. I saw another specialist that diagnosed me with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO).
Do you see local specialists or do you travel for care?
I'm lucky because I live in a city where we have a hospital linked to the university. There are specialists in the metabolic and genetics departments where I follow up. I am in touch with people from Italy and I know it’s not really straightforward there.
How does it work for you being a working parent with a rare disease in Switzerland?
It's not easy because I'm also a single mom. But I'm lucky and I know I am. My kids Dad and I have a really good relationship and share custody. Our kids stay one week with me and one week with him. This helps me to have the time to recover in the off week. When it comes to work, I work part time because full time is impossible. I think I have found a good balance. I think it takes a lot of planning, a lot of listening to your body, really recovering when you need it. If you need to laugh, laugh. If you need to cancel an appointment, cancel.
Where do you get the bravery and grit to be honest about being a working mom with a rare disease on social media?
It’s my outlet. I felt really lonely after my diagnosis. I was left alone, battling this disease. I came across Facebook groups that were life saving for me. They helped me understand more about the disease and reassured me of a lot of things. Having that supportive network was essential. One of the reasons why I started posting on social media was simply because I wanted to share with people what it was like living with mitochondrial disease. But I'm also a mom, I'm a woman, I work. There are so many other things besides the disease. I don't want people to feel alone, so I share what I go through to help others not to feel so lonely in this process.
RESOURCES MENTIONED
Daniela Gallo on Instagram @themitogirl
https://www.instagram.com/themitogirl/?hl=en
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
PARENTS AS RARE - EPISODE 033
Emma & Spencer - The Heart of Parents As Rare
As a dad with a rare disease, I often think about the ways my children have been impacted. My children, 11 year old Emma and 5 year old Spencer, share their thoughts and feelings on this inaugural episode.
EPISODE HIGHLIGHTS
What do you remember about my diagnosis?
I knew it was a muscle disease and that's all anyone really knew. I don't remember the day you told me specifically.
Do you recall the first time you came to me to talk about my rare disease?
It was when I was doing a school project on the human body and I chose muscles. I came to you for more information about the disease and how it affected muscles.
What is your advice for other kids who have a parent diagnosed with a rare disease or chronic illness?
When you're ready, learn about the condition so you can help your parents and tell other people about it. Knowing about the disease will help you understand limitations and what activities you can still do together.
What's the hardest thing for you since my diagnosis?
We can't always do the things we did together before, we have to find other things we can do and ensure time for you to rest. It's a different you, having to rest instead of going from one thing to the next like before.
Can you share how you used your school presentation to start Another Helping?
I started a passion project the next school year called Another Helping with a goal of helping people with or affected by mitochondrial disease. I raise money through programs with MitoAction to assist in education, advocacy and awareness initiatives. MitoSantas will begin in November where I'll be raising money to purchase Christmas presents for children with mitochondrial disease.
RESOURCES MENTIONED
MitoAction
https://www.mitoaction.org/
Permission To Feel, Marc Brackett Ph.D.
https://www.amazon.com/Permission-Feel-Unlocking-Emotions-Ourselves/dp/1250212847
Another Helping
https://www.mitoaction.org/join-the-cause/anotherhelping/
Another Helping on Twitter @Bake4Mito
https://twitter.com/bake4mito
Another Helping on Instagram @Bake4Mito
https://www.instagram.com/bake4mito/
FOLLOW ADAM JOHNSON
Twitter @RareDiseaseDad
https://twitter.com/rarediseasedad
ENERGY IN ACTION - EPISODE 032
RNE Annual Conference
Rare New England is a nonprofit in Massachusetts who serves the rare disease community in New England. Julie Gortz, Founder and Volunteer President of Rare New England, is sharing about the organization, how it started and about their upcoming conference on October 23rd.
EPISODE HIGHLIGHTS
What is your annual conference about?
While there are a lot of resources available to patients, they don't always know about them. We hold an annual conference each year in a New England state, but it will be virtual this year. The theme for the conference is resilience because the rare disease community is resilient, even still through the challenges of the pandemic. Attendance is free for patients and caregivers.
What is Rare New England's strategic plan?
We started as a support group, not a nonprofit and people came to meetings from states away. I asked for donations to help feed lunch to the attendees, which is difficult to collect without being a nonprofit. We didn't know the potential we could bring from the New England area though the programs we've added. We're still growing and hope to expand the programs we have to be more efficient for families to access.
Can you share about the career fair program?
We have monthly career fairs for medical students to share with them what's happening in the genetic world in hopes that they gain interest and perhaps go into genetics in medical school.
RESOURCES MENTIONED
RNE Annual Conference Registration
https://www.eventbrite.com/e/improving-health-care-experiences-in-the-rare-disease-community-tickets-155702984819
Annual Conference Speakers & Agenda
https://www.rarenewengland.org/2021
Rare New England
https://www.rarenewengland.org/
CONNECT WITH MITOACTION
Website
https://www.mitoaction.org/
https://www.facebook.com/mitoaction
https://twitter.com/mitoaction
https://www.instagram.com/mitoaction/
https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 031
Making Mito Wishes Come True - A Partnership with Give Kids The World Village
MitoAction and Give Kids The World have partnered to provide kids in the community an amazing experience. Amy from Give Kids the World joins me to share more about the organization and program offerings for wish families.
EPISODE HIGHLIGHTS
What is the history of Give Kids The World?
The village was founded by Henri Landwirth, who has an incredible story as a holocaust survivor. After coming to the United States he studied hospitality in college and later went on to own and operate the first Holiday Inn just outside of Disney. He learned of wish families coming to the area and would offer to let them stay at his hotel for free. After a little girl wasn't able to make her wish trip in time, Henri formed partnerships to help facilitate quicker fulfillment of wish trips. In 1986, Henri answered a need for Make-A-Wish and established Give Kids The World. Three years later, he opened Give Kids The World Village which has since grown to 166 villas, 89 acres and we've hosted over 176,000 families from all over the world. What started as a small vision to help wish families has grown and we're honored to continue Henri's legacy.
How do kids get a wish granted and what can they expect from Give Kids The World?
We work with over 220 wish granting partners around the world who identify wish families, determining that a child has a life-threatening or critical illness and that their wish involves central Florida. The wish granting organization works with us to set up accommodations at the village. In addition to the family villas, we serve all meals, we have two pools, a spa, a splash pad, entertainment programs, attractions and a gift fairy. It's not just a hotel stay, but also a week's worth of activities. Our theme park partners include Disney, Universal, Sea World, Legoland, Gatorland, Kennedy Space Center, Aquatica and several others. They provide a range of vacation options for families staying with us, which our guest experience team will arrange and plan prior to a family’s stay.
Can families come back to the Give Kids The World Village?
A wish trip is a once in a lifetime opportunity, but families with additional wish children can come back again. Otherwise, families are welcome to visit the village for day trips two times per calendar year as an alumni family. Often families come back and want to visit the Castle of Miracles, a really special place at the village. Every wish child gets a gold star when they arrive and they write their name or draw a picture on the star and give it to the star fairy who will hang it in the galaxies of the castle at night. They'll get a star passport telling them where to find their star, so they can always come back to visit and find their star.
RESOURCES MENTIONED
Give Kids The World
https://www.gktw.org/
Make-A-Wish
https://wish.org/
Dream Factory
https://www.dreamfactoryinc.org/
The Rainbow Connection
TRAILER - 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 parent with a rare disease can be paradoxical. We laugh and cry, we're vulnerable and scared, we're brave and afraid- all at the same time. Parents As Rare, a series brought to you by the Energy In Action podcast, is a community where parents who have a rare disease or chronic illness can connect, share, support and be supported.
CONNECT WITH MITO ACTION Website https://www.mitoaction.org/ Facebook https://www.facebook.com/mitoaction Twitter https://twitter.com/mitoaction Instagram https://www.instagram.com/mitoaction/ LinkedIn https://www.linkedin.com/company/mitoaction
ENERGY IN ACTION - EPISODE 029
AllStripes & Cyclerion - Community Collaboration to Push Clinical Trials Forward
Richard Elles, Director of Patient Advocacy & Industry Engagement with AllStripes and Chad Glasser, Director of Clinical Research with Cyclerion Therapeutics, join us to discuss a pivotal clinical trial that Cyclerion Therapeutics has and the collaboration we have with AllStripes to help move the research initiative forward.
EPISODE HIGHLIGHTS
Can you tell us about Cyclerion's MELAS Study?
Cyclerion Therapeutics has an ongoing clinical study in patients with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) that's evaluating the investigational drug 6463. The study is a 29 day study and looks at safety and tolerability primarily and also determining what 6463 does to the disease. Next steps are subsequent confirmatory studies to be conducted, further confirming safety and efficacy and to move closer to an eventual approval.
What is the importance of patient participation in clinical trials?
Drugs can't be approved and the safety and efficacy of drugs can't be evaluated without patient engagement. We have a responsibility to study drugs in a sufficient number of patients to fully understand effects and that's how approval is justified and moves through phases of development.
What would you like qualified patients to know about participating in the trial?
We know a lot about this molecule and we feel confident in the safety profile and efficacy. This study has been designed to be as easy and feasible as possible. Things like remote visits and travel reimbursement are offered to make it more convenient for patients to participate.
What does AllStripes do and how does that work compliment pharmaceutical work?
The mission of AllStripes is to unlock new treatments for people affected by rare disease and knowing the one that is diagnosed is not just the one affected. We've introduced a two-sided platform that allows patients to access all of their medical records in one place while also enabling the generation of de-identified data from the community to power new treatment research from home. We're seeking to empower patients to contribute with little effort and feel inspired to contribute to research while also having a place to advocate, share their stories and inspire others. We partner with companies like Cyclerion to gather data reported by healthcare facilities, hospital and other medical organizations and create a data set that is usable for clinical trial protocol writing, national history studies, comparative studies and other possibilities that widen the window for treatment.
How do you connect AllStripes patients with clinical trials based on their records and diagnosis?
It's important for us to provide patients with educational resources, but also opportunities to get involved with companies like Cyclerion who are actively seeking participants in clinical trials and can help to move toward treatment options available to patients. Our platform has an updated list of clinical trials with the ability to indicate interest to receive more information about patient involvement.
RESOURCES MENTIONED
Cyclerion Therapeutics
https://www.cyclerion.com/
Meet Kasey Woleben and Sophia Zilber from the Cure Mito Foundation!
The Cure SURF1 Foundation was founded in 2018 by a group of families determined to fight for our children’s lives. Each of us has a young child diagnosed with SURF1 Leigh syndrome. Each of us has been told by doctors that there is no treatment, no cure, and no hope. And each of us has refused to accept this as a final answer.
In 2021, after successfully blazing the trail for SURF1 gene therapy at UTSW we decided to expand our efforts and changed the name of our foundation from the Cure SURF1 Foundation to the Cure MITO Foundation. Our primary focus is advancing research towards a cure for Leigh syndrome and eventually for mitochondrial disease as a whole. A successful outcome will mean not only hope for our own children, but also life-saving treatments for future generations impacted by this disease.
Meet Another Helping founder and daughter of the "Dadvocate," Emma Johnson and learn how she combined 2 of her passions to help others who are affected by mitochondrial disease like her dad.
Meet MitoAction's CEO, Kira Mann and Care3's CEO, David Williams to learn about MitoAction Mobile, our HIPPA compliant, comprehensive care planning and tracking platform for patients, caregivers and healthcare professionals.
Join Energy in Action host, Stephanie Tomlinson as she interviews Emil Kakkis and Jessica Riviere from Ultragenyx Pharmaceutical.
On this podcast, Ultragenyx will share how the company entered into LC-FAOD research, its research efforts, and how LC-FAOD patient voices and community engagement are central to the planning, implementation, and advancement of Ultragenyx research and programs. Ultragenyx is proud to partner with MitoAction to provide the LC-FAOD community with information and updates through a series of discussions on MitoAction’s Energy in Action podcast and Monthly Expert Webinar Series.
This podcast episode is intended for U.S. members of the MitoAction community.
Listen it to meet MitoCanada's Chief Executive Officer Kate Murray and Chief Development Officer Catherine Mulvale.