Ladue News Nonprofit Spotlight
On March 7, 2014, the Snow Foundation was on the cover of the Ladue News as well as highlighted as one of the Non-Profit organizations being featured on their society page. They did a beautiful job capturing our story. Below is an excerpt from the article.
By Brittany Nay
Photo by Sarah Crowder
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.
Click on the link below to read the full article.