After 18 Years, Teen Finally Diagnosed with Ultra-Rare Jordan Syndrome

Lucia Adarve spent her childhood battling developmental delays, frequent seizures, and a litany of labels such as fibromyalgia, ADHD and dyslexia, without any single explanation. After years of doctor visits that offered little relief, her mother Lisa secured an appointment with neurologist Todd Arthur at Cincinnati Children’s Hospital, who referred them to the Cleveland Clinic’s Undiagnosed Disease Clinic. There, genetic analysts performed whole-genome sequencing and discovered a pathogenic variant in the PPP2R5D gene, confirming Jordan syndrome, an ultra-rare neurodevelopmental disorder with fewer than 500 known cases.

Pediatric geneticist Wendy Chung described the disorder’s typical features, including macrocephaly, facial characteristics, movement and speech challenges, and potential later-life parkinsonism. The new diagnosis enabled a coordinated care plan that has already lowered Lucia’s seizure frequency and provided a roadmap for managing other symptoms. Lucia has joined support networks, resumed a more typical teenage life, and is pursuing a degree in criminal behavioral psychology, crediting her mother’s persistence for the outcome.