Wolfram syndrome (WS) is an autosomal recessive genetic disorder; the mother and the father must each pass one affected copy of the gene to the child. WS is considered an ultra-rare disease and afflicts about 1 in 200,000 to 500,000 people. Medical experts estimate between 15,000 and 30,000 patients worldwide have this disease, including 1,000-2,000 in the United States. Syndrome variants include WS1, WS2, and WFS1 related disorder. The gene has also been linked to more common forms of Type 2 diabetes.
WS is difficult to diagnose with progressive and pleiotropic symptoms occurring at a variable rate in each child. Between ages 5 and 16 (age 6 median) children with WS typically first develop insulin-dependent diabetes. Most go on to next develop primary optic atrophy and vision impairment, half will develop sensorineural hearing loss, and nearly as many will develop diabetes insipidus. Unlike common types of diabetes, these children often go on to develop blindness, deafness and other neurologic disturbances. WS can also lead to psychological and behavioral issues, loss of senses of smell and taste, problems with balance and coordination, muscle spasms and seizures, urinary and gastrointestinal problems, and irregular breathing, reflecting the tissue distribution of the WS gene.
There are currently no drug therapies or cures that exist for WS. Treatment focuses on symptom management. More than 60% of Wolfram patients die before age 40.
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss, and neurodegeneration.
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In fall of 2010, Raquel Gebel, the five-year-old daughter of Stephanie Gebel, was diagnosed with Wolfram syndrome. When Stephanie learned that there were no drug therapies or cures that exist to treat Wolfram syndrome, she knew she had to do something. So Stephanie started The Snow Foundation (TSF) to serve as a collective voice for Wolfram syndrome patients and to raise money to help find a cure.
The Snow Foundation plays a central role in supporting and coordinating international collaborative research efforts. TSF is focused on fueling knowledge, speeding better treatments and symptom management therapies, and driving enhancements in the health care delivery for Wolfram syndrome patients.
The Snow Foundation also encourages the entire Wolfram syndrome community to come together and share common life experiences, education and mutual aid. By providing these critical resources and support services, TSF enables Wolfram syndrome patients, their families and caregivers to powerfully advocate for what they need, when and how they need it.
Illness Without a Cure
There are currently no drug therapies or cures that exist for Wolfram syndrome. As a result, more than 60% of Wolfram patients die before age 40.
The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.