This episode is both about Carolina and her daughter Mariana’s journey with Pfeiffer Syndrome, and about how rare disease families can truly impact healthcare.

Carolina shares the long and emotionally exhausting path to diagnosis, the repeated hospitalizations and surgeries Mariana endured, and the emotional impact of raising a child with a visible rare disease.

What stands out throughout the conversation is Carolina’s extraordinary resilience and compassion. Rather than allowing fear and trauma to define their lives, she transformed her family’s experience into advocacy, education, and systemic change through the organizations she founded, including Born a Hero.

The episode explores difficult but important topics: medical gaslighting, delayed diagnosis, the emotional toll on caregivers, bullying, mental health, and the urgent need for patient-centred healthcare. Yet despite the challenges, the conversation is filled with hope, warmth, and humanity. Carolina repeatedly returns to the power of kindness, collaboration, community, and listening to patients and families.

It is ultimately a story about turning pain into purpose, and about how rare disease families often become the strongest advocates, educators, and changemakers.

The song that Carolina chose is The Truth by Megan Woods.

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.

This is the story of Yiannis, nicknamed “Mr. Sunshine”, told by his mother Angela. Yannis 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 Yiannis.

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