health
Teen's mystery illness diagnosed after a lifetime of symptoms: "It took 18 years to get an answer"
At 18, Lucia Adarve had been to more doctors than most people see in a lifetime. Things had been complicated for her since birth: She missed milestones, had seizures that led to collapses and concussions, and struggled with communication and schoolwork. She had a hard time balancing and reacted poorly to stimuli like loud noises or bright lights.
TL;DR
- Lucia Adarve experienced complex health issues from birth, including seizures, developmental delays, and sensory sensitivities, leading to numerous incorrect diagnoses.
- Her mother, Lisa, persistently sought answers, leading them to Dr. Todd Arthur and eventually Cleveland Clinic's Undiagnosed Disease Clinic.
- Specialized genetic testing identified a mutation in Lucia's PPP2R5D gene, diagnosing her with Jordan syndrome.
- Jordan syndrome is a rare neurodevelopmental disorder that can cause difficulties with movement, speech, seizures, and other issues.
- The diagnosis has provided a clear path forward, with improved seizure management, a multidisciplinary care plan, and connections to advocacy and support groups.