Episode 83: Alexa Colella - Limb-Girdle Muscular Dystrophy 2C

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.