33 episodes
1 of 20 Podcast Jonathan Cappiello
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- Health & Fitness
Jonathan Cappiello was diagnosed with a rare genetic disorder that only 20 people in the world have. The condition is called 3 hydroxyacyl coa synthase deficiency, which in short compromises his immune system and his body cannot process fats. Each week, he will discuss his lifestyle, his diet, and how he adapted to his condition. Additionally, he has a variety of guests to talk about their conditions. If you’re interested in genetics, rare disorders, medicine, and healthy living-- this is the podcast for you!
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Season 4, Episode 8: SPG4 - Vamsi Koduri
Vamsi Koduri has many hats. He is an author, advocate, and a father on a mission to create a better tomorrow.
His son Maurya was diagnosed with SPG4 Hereditary Spastic Paraplegia. Typically a hereditary disease, however in Maurya’s case, the mutations were “de novo”, meaning the gene randomly mutates during embryo development and is not inherited from a parent.
This diagnosis was devastating to Vamsi and his wife but they chose to follow their faith in positivity and pave the way for their son to create a better tomorrow. They established a foundation in Maurya’s name. The Maurya Koduri Foundation’s mission is to increase awareness and to fund research to develop a treatment for Maurya and others with de novo Hereditary Spastic Paraplegia SPG4.
Maurya is full of life despite his circumstances. He excels at the piano, eagerly constructs LEGO sets, adores math and science, enthusiastically immerses himself in video games, harbors a deep fascination for animals and plants, religiously tracks NBA/NFL games, enjoys watching and playing various sports, actively engages in wheelchair basketball, and swimming.
Despite the darkness they face, Vamsi and his family are a beacon of light. This episode is a reminder to choose faith and hope because there is always a chance. And for Vamsi, Maurya deserves a chance.
To find out more about Maurya's story go to: https://www.mauryakoduri.org/
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Season 4, Episode 7: Hunter Syndrome & Rare Disease Allyship - Kyle Underwood and Adam Haas
Meet Kyle Underwood -- a fierce advocate and loyal friend who navigates life with MPS II, also known as Hunter Syndrome, a rare genetic disorder. It is characterized by the abnormal accumulation of complex sugars in cells, impacting multiple bodily systems primarily affecting boys.
Kyle's resilience and strength shine through, teaching us invaluable lessons beyond any label.
In this incredible roundtable, join me, Kyle, and his best friend, Adam Haas, as they share their candid insights into the world of rare diseases, Kyle's journey, and the transformative power of allyship.
Together, Kyle and Adam are on a mission to raise awareness and support within the rare disease community. Their unwavering friendship is a powerful testament to the bonds of unconditional support and authenticity. Through their shared experiences, Kyle and Adam inspire us all with their genuine friendship and commitment to uplifting each other's true selves.
May 15 is MPS II Day, a dedicated occasion to raise awareness and support for individuals living with Hunter syndrome, highlighting their journeys and advocating for improved care and research.
Resources for MPS II / Hunter Syndrome:
Everylife Foundation for Rare Diseases
NORD - National Organization for Rare Diseases
Project Alive
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Season 4, Episode 6: Ehlers Danlos Syndrome & Eosinophilic Esophagitis - Katherine Greenstein
Katherine “Katie” Greenstein (Tiktok: @chronically.katie & Instagram: @katherine.greenstein ) is a friend of the podcast and a guest on this episode. Katie is much more than that; they are a fearless advocate for themselves and others in the rare, chronically ill, and disabled communities.
Katie’s diagnostic odyssey has been arduous and inspiring. They received a diagnosis of Eosinophilic Esophagitis before turning 6, and later in adulthood, were diagnosed with Ehlers-Danlos Syndrome. Our conversation is fruitful and impactful as we discuss our mutual struggles to find the correct diagnosis and the long-standing issue of food options in mainstream restaurants and grocery stores.
This conversation is eye-opening, thought-provoking, and motivating. It is a call to action to understand the human struggle in everyday life, the harrowing truth behind the medical system in our nation, and our mutual experiences with our conditions. I have attached the brilliant resources Katie mentioned in our episode. We can all learn a lesson from them.
Disability Visibility by Alice Wong
Content Creators: @philhatesgluten @crutches_and_spice
@chronicallyillandhot
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Season 4, Episode 5: Parkinson's Disease - Dr. George Ackerman
Dr. George Ackerman shares his story about starting "Together for Sharon," which he and his family initiated to keep his mother, Sharon Riff Ackerman's memory alive and to spread the message of Parkinson's Awareness and hope for a cure.
George shares his journey as a caregiver for his mother and how he used her battle as motivation to create a better future for those affected by Parkinson's Disease. We discuss the ups and downs of Parkinson's, and how as a community, we can be more mindful of preserving dignity and humanity while caring for our loved ones.
George has made it his life mission to pave the way for more legislation, research, and community involvement. It serves as a valuable lesson for us all to be grateful for our health and how we can make a difference despite the circumstances.
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Season 4, Episode 4: Hypophosphatasia - Meg Barker
Meg Barker, a teen advocate joins me on the podcast today.
We discuss Meg's journey into advocacy within the rare disease community. From a young age, Meg felt compelled to amplify voices in the rare disease space due to their mother's battle with Hypophosphatasia; a condition that affects the mineralization of bones and teeth.
Despite their youth, Meg has found their place at the advocacy table, tirelessly advocating for awareness and support in this often overlooked area of healthcare.
In our discussion, we delve into the significance of raising our voices, regardless of volume, and how small conversations can ignite meaningful change. Tune in to discover how you can utilize your voice to effect change in every room you enter.
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Season 4, Episode 3: PKU - Kevin Alexander
Kevin Alexander joins the podcast, a fellow advocate and podcaster in the rare disease space.
PKU (Phenylketonuria) is a rare genetic disorder that inhibits the body's ability to metabolize the amino acid phenylalanine, requiring strict dietary management to prevent cognitive impairment and other serious health complications.
Our paths crossed at Rare Disease Week in Washington D.C. back in 2023, and since then, we've discovered a multitude of shared interests. Both immersed in the world of media and storytelling, Kevin and I are passionate about amplifying the voices within our community. Despite our common ground, our dietary restrictions set us apart—Kevin manages PKU, limiting his protein intake, while I navigate a condition restricting fat consumption.
Yet, our differences only enrich our conversation as we delve into various topics within the rare disease community. From the significance of advocacy to the power of storytelling, we explore the highs and lows of our respective conditions. Join us as we bridge our unique perspectives, united in our shared mission.
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