From infancy, Evan exhibited visual impairments that puzzled his family and doctors. For 15 years, he lived without a definitive diagnosis, facing challenges in daily activities and uncertainty about his future. The turning point came when he was evaluated by the Undiagnosed Rare Disease Clinic at Indiana University School of Medicine. Through advanced genetic testing, Evan was diagnosed with achromatopsia, a rare genetic eye disorder. This diagnosis provided relief and opened doors to potential treatments, exemplifying the impact of specialized clinics dedicated to solving medical mysteries.
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