Subscribe for 99¢

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.”

Wolfram syndrome is characterized by a suite of symptoms including insulin-dependent diabetes, vision and hearing loss, urinary tract problems, and neurological disorders that affect balance and coordination. Symptoms typically begin in early childhood and progress into adulthood. Because Wolfram syndrome affects the brain stem, which controls respiration and heart rate, “a lot of these symptoms can be life-threatening,” Hershey said.

The gene causing the condition was discovered in 1998 by the late M. Alan Permutt at Washington University, and the symptoms are well understood. But, according to Hershey, researchers don’t fully understand how the gene and symptoms are connected.

To develop knowledge of how symptoms unfold over time, researchers at the university started a clinic where children with Wolfram syndrome and their families travel to St. Louis and participate in a series of exams.

“When we first started in 2010, none of us had seen anyone with Wolfram syndrome,” including Permutt, who discovered the gene, said Hershey.

Now, Washington U. researchers have seen 44 patients from ages four 4 to 30. Some patients were only seen once, whereas others have attended the clinic for all nine years.

This year, 36 people with Wolfram syndrome and their families came to St. Louis for the two-week clinic, which ended July 17.

Each patient was tested for visual acuity, taste, smell, balance and gait. MRI scans, as well as psychiatric, neurological and endocrinology exams were also conducted.

While Bejerano said the tests are tiring, she added: “I think at the end it’s worth it. I know that this, for them, is really helpful.”

So far, the clinic has revealed immense variation in the symptoms that patients with Wolfram syndrome experience and the age of onset. Understanding this variation is critical for choosing interventions and designing clinical trials.

“If you didn’t have that information, you wouldn’t be able to do the clinical trial. They wouldn’t let you, because you don’t know what you’re measuring,” Hershey said.

In between the two weeks of exams, families heard from scientists studying Wolfram syndrome at a conference organized by the Snow Foundation, a St. Louis-based organization that supports research on Wolfram syndrome. After the research talks, patients and parents shared their experiences.

“I want to come here all the time because I get to know more about what I have,” said Bejerano. When she first came to the clinic in 2015, Bejerano said, “I was still pretty young and I didn’t know half of what I know now. Now I’m even more interested in it because I love medicine.”

Bejerano, who has taken medical classes and reads constantly, said she was particularly excited to ask researchers and physicians about Wolfram syndrome at the clinic this year.

Meeting researchers invested in understanding Wolfram syndrome and connecting with other families through the clinic “has given me the hope and support that I needed,” said Bejerano.

Editor's note: Wolfram syndrome affects one in every 500,000 people worldwide. A previous photo caption contained incorrect information about how many people are affected.

Morning Dispatch e-newsletter

* I understand and agree that registration on or use of this site constitutes agreement to its user agreement and privacy policy.