How a Rare Diagnosis Impacts a Family

Jon and Shirley Dicks’ daughter Elle first started developing problems swallowing when she turned 10 months old. As her difficulty eating progressed, she stopped growing. Her parents grew frustrated by doctors dismissing her symptoms until a passing comment that she seemed to have a sensitivity to light allowed a specialist to diagnose her with the rare, lysosomal storage disorder cystinosis. We spoke to the Dicks about Elle’s diagnostic odyssey, how having a diagnosis changed care for her, and the challenges they have faced caring for a child with a rare condition.