Cleveland Clinic Diagnoses Teen with Ultra-Rare Jordan Syndrome After 18-Year Search
Lucia Adarve, an 18-year-old, has been diagnosed with Jordan syndrome, a rare neurodevelopmental disorder, after years of medical uncertainty. Her mother, Lisa, had been seeking answers since Lucia's birth, as she exhibited symptoms like seizures, communication difficulties, and balance issues. Despite numerous diagnoses over the years, including epilepsy and ADHD, none fully explained her condition. The breakthrough came when Dr. Todd Arthur at Cincinnati Children's Hospital referred them to the Cleveland Clinic's Undiagnosed Disease Clinic. Utilizing whole genome sequencing, the clinic identified a mutation on Lucia's PPP2R5D gene, confirming the Jordan syndrome diagnosis. This condition affects development and can lead to movement and cognitive challenges. 
