ST. LOUIS — Emily Bejerano, who has worn glasses since before she can remember, was diagnosed at age 5 with insulin-dependent diabetes. Two years later, a doctor linked her vision troubles and diabetes symptoms to diagnose her with Wolfram syndrome, a rare genetic disease that affects only one in every 500,000 people worldwide.
“You see me here like I look perfectly healthy, but I can barely see your eyes or your hair or anything in general,” the 15-year-old Miami resident said while in St. Louis last week. “It’s always been a challenge.”
Bejerano was one of three dozen teenagers and children who attended a clinic held at Washington University to help researchers understand how Wolfram syndrome symptoms progress.
Currently there are no treatments to slow or stop the progression of Wolfram syndrome. Researchers at Washington University have spent the past decade advancing knowledge about the rare genetic disease.
“It’s so rare that they’re used to going to their doctors and having to explain Wolfram syndrome to them,” said Tamara Hershey, professor of psychiatry and radiology at Washington University School of Medicine in St. Louis. “Everyone here has seen more Wolfram patients than anyone else in the country. There’s a level of expertise here that they can actually consult our doctors and find out something that they didn’t know, instead of the reverse.”