Sylvain speaks with Gay Grossman about life with ADCY5, a rare genetic movement disorder, and the journey she and her daughter Lilly have travelled together. Gay shares the long and often lonely road to diagnosis, the physical realities of a condition that affects the body but not the mind, and the quiet resilience Lilly has shown since childhood. The conversation moves through years of misdiagnosis, advocacy in schools, sleepless nights, and relentless problem-solving, before arriving at a moment of transformation: a treatment discovered through community, research, and lived experience that has profoundly changed Lilly’s quality of life. Above all, this episode is a story about perseverance, parental advocacy, and the belief that understanding the root cause can change everything, not just for one family, but for many.

The piece of music that Gay chose is Canon by Johann Pachelbel.

Marguerite shares the story of her son Louis and their life with Prader-Willi syndrome (PWS), a complex rare disease. Marguerite speaks with honesty, warmth and clarity about the medical, emotional and practical realities of raising a child with a rare genetic condition, from Louis’s fragile start in neonatal intensive care to adulthood in a specialist supported living environment. She explores complex themes such as food security, anxiety, autism, and the invisible labour of caregiving, while challenging societal assumptions about success, independence and what a “good life” looks like. Marguerite is a strong advocate for the PWS community, and the importance of social care for children and families dealing with a rare condition. This episode is ultimately a powerful reminder that with understanding, routine, community and the right support, people with Prader-Willi syndrome can live happy, meaningful lives – and that listening to those with lived experience is essential.

The song that Louis chose is Say Something by Justin Timberlake featuring Chris Stapleton.

This is the story of Yiannis, nicknamed “Mr. Sunshine”, told by his mother Angela. Yiannis is a 5-year-old boy who lives with the ultra-rare IRF2BPL-related disorder, which has affected his development in many ways. Angela describes the profound ways in which this condition has reshaped their lives, and how hope is their drive to make a difference for Yiannis and other children affected by IRF2BPL.

Angela’s story is one of fierce advocacy and unconditional love. After Yiannis’ diagnosis, she and her husband founded Yellow for Yiannis, a foundation devoted to advancing research into the condition and supporting other families facing similar diagnoses. Angela balances the day-to-day joy of raising her son, with her fight to be heard by the scientific community to find a suitable treatment for Yannis.

Music, especially “Here Comes the Sun” by The Beatles, plays a central role in their lives. Angela naturally selected this song for this episode.