In this Rare on Air Stories bonus episode marking Rare Disease Day, we share the story of Sophia, who lives with a rare RARB gene mutation. Due to the unavailability of genetic testing, her diagnosis was delayed until age seven, following years of uncertainty about her cerebral palsy and vision impairments.

With the support of specialists, her family identified treatments that have helped improve her cognition and speech. Now in high school, Sophia’s journey has inspired A Cure for Sophia and Friends, a family-led initiative connecting others with RARB mutations and supporting research into this ultra-rare condition.

Visit rarediseaseday.org to share your story or get involved. Rare Disease Day is on 28 February 2025.