Last year, Stephanie Snow Gebel found out that her youngest daughter, 5-year-old Raquel, has an extremely rare genetic disorder that may one day rob her of her sight, her hearing and many years of her life.
“As a mother, my heart aches,” Gebel says. “It’s hard to breathe sometimes when I think of watching my child deteriorate before my eyes.”
Facing Raquel’s illness has been especially hard on Gebel because she lost her parents in recent years. Her mother, Merry Snow, died in 1998 at the age of 54. Her father, Jack Snow, fondly remembered by St. Louis fans as a star wide receiver for the Los Angeles Rams and later as a Rams’ broadcaster, died in 2006. He was 62 years old. Snow died just nine months after his granddaughter Raquel was born.
Raquel, who is known for her sweet disposition, recently discovered soccer and basketball. She also enjoys playing with Barbie dolls.
She knows she has Wolfram syndrome and understands that the disease causes her to mix up the colors pink and purple. “We’ve told her to let us know if her eyesight gets worse or if she can’t hear the birds chirping in our backyard,” says Gebel, who also has three other children ranging in age from 3 to 11.
The first sign of Wolfram syndrome is typically juvenile onset diabetes. In addition to causing hearing and vision loss, the disease ultimately affects the brain. Most patients are diagnosed when they are 4 or 5 years old; in a span of five to eight years, degeneration of their hearing, vision and brain begins. Sixty percent of patients affected by Wolfram syndrome die before reaching their 30th birthdays.
Washington University School of Medicine researchers who have studied Wolfram syndrome for the past two decades are determined to improve those odds. In 1998, M. Alan Permutt, MD, professor of medicine, and his colleagues discovered the Wolfram syndrome gene (WFS1). Today, scientists are advancing the understanding of the disease with the goal of identifying potential treatment options.
Last summer, Permutt and his staff hosted the first-ever international multidisciplinary clinic for patients with Wolfram syndrome. Although Permutt has studied the syndrome for years in the lab, because the disease is so rare, clinic participants were the first patients with Wolfram syndrome he had met in person.
Ten patients, ages 7 to 23, traveled with their families to Washington University Medical Center for two days of intensive assessment. Nearly a dozen School of Medicine faculty tested their blood, vision, balance and hearing and performed MRI scans; they also conducted neurological and psychological testing and provided genetic counseling. At the clinic, faculty discovered patients had varying degrees of dysfunction.
“In order to propose clinical trials for treatment options, we need to know more about the disease’s rate of progression,” explains Permutt, who also is professor of cell biology and physiology. “Our goal is to monitor these patients longitudinally.” To meet that objective, Permutt and his team closely follow patients with Wolfram syndrome through an international online registry developed and maintained at the School of Medicine that now includes 50 families.
Securing research funds for Wolfram syndrome has proven difficult. After Raquel was diagnosed, Stephanie Snow Gebel learned that Permutt was having trouble getting support for additional Wolfram clinics. She and her family decided to establish the Jack and J.T. Snow Fund at Washington University School of Medicine to raise money for research and to increase awareness about the disease.
The fund is named in honor of the late Jack Snow and Gebel’s brother, J.T. Snow, a former major league first baseman who now works as a TV and radio commentator and as an on-field instructor for the San Francisco Giants.
“When I heard about Raquel’s diagnosis, my first thoughts were ‘not again,’” says Snow. “We lost our mom and dad and now this. But we asked ourselves, ‘What can we do?’ and then decided to team up and raise money to find a way to help children with this devastating disease.”
Permutt says the money that the Snow family has raised will enable him and his colleagues to conduct additional clinics and further their research on a mouse model of Wolfram syndrome.
“They’ve done an unbelievable job in garnering community support, and the money the Jack and J.T. Snow Fund has raised is critical in continuing research on this syndrome,” says Permutt. “Stephanie also is beginning to educate other parents of children with Wolfram syndrome in how to raise money to help us find a treatment.”
A second Wolfram syndrome clinic was held in August; five new patients and nine patients who took part in last year’s clinic were scheduled to attend.
“For years, when parents would send me letters and e-mails asking if I could help their child, it was very difficult to tell them there was absolutely nothing I could do,” Permutt says. “Today, I feel very comfortable that we’re on the right track to developing drugs to benefit these patients. My grandest hope is that patients like Raquel can avoid the effects of this illness as they grow into adulthood.”