It’s a grim prognosis. Wolfram syndrome, a rare genetic disorder that strikes the young, presents as severe juvenile diabetes, and gradually causes loss of sight and hearing, often leading to death before the patient’s 30th birthday. Today, there is no cure.
But the Snow family and doctors at Washington University School of Medicine hope to change that—very soon. Eight-year-old Raquel, Stephanie Snow Gebel’s daughter and the granddaughter of the late Jack Snow—‘Voice of the Rams’—was diagnosed with the disease in 2010. As a toddler, Raquel began showing symptoms of diabetes: constant thirst and frequent urination. A year later, her vision began deteriorating and she was diagnosed with optic atrophy.
What happened next only can be explained as “the stars aligning,” Gebel says. By a stroke of luck, Raquel’s physicians—Drs. Lawrence Tychsen and Neil White at St. Louis Children's Hospital—were both on the board of the Wolfram syndrome research program at Washington University School of Medicine. Through their collaboration, they determined Raquel had the rare disease that leads to the death of brain and pancreatic cells, causing severe diabetes and progressive vision and hearing loss, as well as problems with balance and coordination—and even breathing.
Led by the late Dr. Alan Permutt, a team of Washington University School of Medicine researchers discovered the Wolfram syndrome gene in 2000. Today, the research into the syndrome continues at the university, with the expertise of Dr. Fumihiko Urano.
Urano was so moved by the passion of Permutt and Gebel to end the disease, he changed the trajectory of his medical career on the East Coast to take over the Wolfram Syndrome research program following Permutt’s death in 2012. Since then, Urano and his research team have found the cause of the syndrome and identified four potential FDA-approved drugs for treatment, as well as a new group of drugs that may stop the brain and pancreatic cell death caused by the disease. The group is currently completing clinical testing for the drug candidates before it can move on to clinical trials.
And the drugs have even further significance beyond implications for Wolfram syndrome that could revolutionize the diabetic world, Urano notes. “Drugs that are effective for Wolfram syndrome could be effective for other forms of diabetes.” But because it is such a rare disease, more awareness and funds to find its cure are needed, he says.
In response, The Snow Foundation will host its second annual Adult Easter Egg Hunt from 5:30 to 9:30 p.m. April 5 at Grant’s Farm. The adult-only party, which will feature St. Louis Rams coach Jeff Fisher and KMOV’s Steve Savard as emcee, gives attendees exclusive access to Grant’s Farm a week before its season opening to search for eggs that contain impressive prizes. Last year, the event raised $100,000, and Gebel is aiming for $150,000 this year.
That dollar amount is a significant number: The foundation began by financially supporting research for the syndrome and the clinical drug trials, which cost about $150,000 a year. And Gebel maintains that the expense of finding a cure will never stop her. “I am going to have to watch my kid deteriorate for $150,000?” she says. “Not on my watch.”
Gebel is a very impressive person, Urano notes. “Many parents in this situation get depressed. But instead of waiting for her daughter to develop all the manifestations of this disease, she stood up and tried to raise money for research to treat it.”
Gebel also asks others to step up and help. “If people will take a chance on this small disease, it’s another avenue to go through to help bigger diseases. Wolfram syndrome can open up all the doors for Type 1 and Type 2 diabetes.” And you'll be helping kids like Raquel, who is now a quiet, well-mannered 8-year-old third-grader at Babler Elementary School in Wildwood. "She is every person's dream child," Gebel says. "She believes God is using her to help all these other Wolfram Syndrome patients."
ON THE COVER: The Jack and J.T. Snow Scientific Research Foundation will host its second annual Adult Easter Egg Hunt from 5:30 to 9:30 p.m. April 5 at Grant’s Farm to raise research funds for Wolfram syndrome, a rare form of severe diabetes. Pictured on the cover: KMOV's Steve Savard and Raquel Gebel. For more information, call 614-787-2377 or visit thesnowfoundation.org.