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Episode 92: Andrew Longenecker - PBD

Andrew is the father of Diego, who was diagnosed with peroxisome biogenesis disorder (PBD), a rare and potentially devastating genetic condition affecting an organelle found in every cell of the body.

Andrew shares the emotional reality of receiving a diagnosis when doctors could not tell his family what the future would look like, and that there were no treatments available. But alongside the uncertainty came a determination to understand the disease and do something about it. What began with Andrew learning how to read scientific papers and reaching out to researchers eventually led him to leave his career and work full-time to build an ecosystem around peroxisome research.

The conversation goes beyond Diego's story. Andrew explains why the peroxisome has historically received far less attention and funding than other areas of biology, and why changing that requires more than scientific discovery.

Ultimately, this is a story about turning an incredibly difficult diagnosis into purpose, while never losing sight of the child and family at the heart of it.

Andrew chose the song Un Poco Loco by Anthony Gonzalez and Gael García Bernal.

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Sylvain Berthelot Sylvain Berthelot

Episode 86: Melissa Vaught - PURA Syndrome

Melissa it the mother of Taylor, who lives with Pura Syndrome, an ultra-rare neurodevelopmental condition that went undiagnosed for 23 years.

Melissa shares the emotional weight of living for decades without answers, the moment of finally receiving a diagnosis, and how uncertainty transformed into purpose. This conversation is a reminder that rare disease stories are not only about struggle — they are about resilience, discovery, community, and hope. Melissa speaks beautifully about seeing beyond limitations, recognising Taylor’s intelligence and individuality, and finding meaning through her work with the Pura Syndrome Foundation.

It is a moving episode about motherhood, purpose, and the extraordinary strength that grows from love.

The song that Melissa chose is Blessings by Laura Story.

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Sylvain Berthelot Sylvain Berthelot

Episode 70: Kelly Forester - Wet MD

Kelly speaks with openness and wisdom about living with a condition that is not life-threatening, but deeply life-altering – wet age-related macular degeneration (Wet MD). From the shock of her first diagnosis to the reality of ongoing eye injections, she offers a candid look into the emotional, physical, and practical challenges of losing central vision. She shares a down-to-earth approach to adapting to her new condition, reflecting on the balance between what we can and cannot control, the importance of medical research, and the need for more compassionate health insurance systems. Her story is not just about vision loss – it is about perspective and finding peace in the journey.

The song that Kelly selected is Time by Lauren Daigle and Aodhan King.

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Sylvain Berthelot Sylvain Berthelot

Episode 52: Chris Velona - Batten Disease CLN8

Chris shares the profound journey of raising his son, Sebastian, who has Batten disease CLN8. He reflects on the bittersweet experiences of witnessing Sebastian’s once-vibrant abilities erode under the weight of this rare, degenerative condition. Chris shares his constant search for new therapies that can help reduce the frequency of his son's seizures. We also talk about his fund-raising for clinical research and the lack of appetite from pharmaceutical companies to treat his son's rare condition.

The song that Chris chose is Tiny Dancer by Elton John.

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