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Albert Einstein College of Medicine: The Gene Team Confronts Rare Disease
A New York couple’s nightmare journey through the healthcare system began when their baby was just a few months old. “Ben started missing his developmental milestones,” says his mom, Jessica Foglio. “He couldn’t chew, he couldn’t sit up, and then he was misdiagnosed with cerebral palsy.” Ben’s physicians ultimately figured out that he had an ultra-rare neurodevelopmental disorder known as Salla disease, stemming from a defect in a gene called SLC17A5. But the doctors had no idea how to treat him and seemed to have little interest in trying. Through a family friend, Jessica and her husband, Mike, found their way to Steven Walkley, D.V.M., Ph.D., then-director of Einstein’s Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC). Learn More |