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Rare Syndrome Diagnosis Brings Relief

Rare Syndrome Diagnosis Brings Relief

Published 4 days, 11 hours ago
Description

Lucia Adarves 18-year medical odyssey culminated in a rare diagnosis: PPP2R5D-associated neurodevelopmental disorder, or Jordan syndrome. After a breakthrough at Cincinnati Childrens Hospital and the Cleveland Clinics Undiagnosed Disease Clinic, Lucia finally had a name for her condition, enabling targeted treatment and a path to advocacy.

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