Alexa’s daughter, Charlotte, lives with limb-girdle muscular dystrophy 2C (LGMD2C), a rare genetic disorder leading to childhood-onset progressive muscle weakness. In this discussion, Alexa takes us on a journey from an unexpected diagnosis at just two years old, to finding hope through groundbreaking gene therapy.

What stands out is the way Alexa describes living with the condition not as a single moment of impact, but as something that unfolds over time—something she is “still reacting to almost 10 years later.” The conversation gently explores the realities of parenting a child with a rare disease: the constant planning, the invisible challenges, and the emotional complexity of watching your child grow up faster than they should have to.

Charlotte’s story is not only one of medical complexity, but also of resilience, empathy, and perspective. From advocating for herself at school to comforting a nervous nurse at just four years old, she embodies a maturity shaped by lived experience. The episode also highlights the power of community and science, particularly the life-changing impact of gene therapy and the families who push boundaries to make treatments accessible.

Above all, this episode is about hope: hope found in progress, in people, and in the extraordinary spirit of a young girl who feels “weightless” in the ocean; a place where her condition momentarily disappears.

The song that Alexa chose is Hallelujah by Jeff Buckley.

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.