Teen's mystery illness diagnosed after a lifetime of symptoms: "It took 18 years to get an answer"
CBS News • • business
Key Points:
- Lucia Adarve, who struggled with multiple unexplained symptoms and numerous diagnoses since birth, was finally diagnosed at 18 with the rare Jordan syndrome, caused by a mutation in the PPP2R5D gene.
- After years of inconclusive medical visits, a neurologist at Cincinnati Children's Hospital referred Lucia to the Cleveland Clinic's Undiagnosed Disease Clinic, where whole genome sequencing identified her condition.
- Jordan syndrome is a neurodevelopmental disorder affecting movement, speech, and learning, often associated with seizures, autism, and ADHD, with fewer than 500 confirmed cases worldwide.
- Receiving a clear diagnosis allowed Lucia to access targeted treatments, reduce her seizures, and connect with support and advocacy groups, improving her quality of life and self-advocacy.
- Lucia is now pursuing a degree in criminal behavioral psychology and credits her mother's dedication and homeschooling efforts for helping her achieve relative independence despite her condition.