What is Wolfram Syndrome?

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 a rare genetic disease that historically has been thought to occur in approximately 1/200,000 to 1/500,000 people: more recent data suggests WS may be 10 times more common, with a spectrum of disease presentation. Syndrome variants include WS1, WS2, and WFS1-related disorder.

WS is often difficult to diagnose, with progressive symptoms occurring at a variable rate in each affected individual. Between the ages of 5 and 16 people with WS typically first develop insulin-dependent diabetes. Most go on to develop optic nerve atrophy and vision impairment. Nearly half will develop sensorineural hearing loss, and nearly as many will develop diabetes insipidus. Unlike common types of diabetes, people with WS often go on to develop blindness, deafness and other neurologic disturbances at a young age. 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.

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.

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Our Mission

The Snow Foundation is a collective voice for Wolfram syndrome patients, working towards a cure for Wolfram syndrome and the development of novel therapies for diabetes, vision loss, hearing loss, and neurodegeneration.

Our Story

In the fall of 2010, Raquel Gebel, the five-year-old daughter of Stephanie Snow Gebel, was diagnosed with Wolfram syndrome. When Stephanie learned that no drug therapies or cures existed for this disease, she knew she had to do something. So, Stephanie and her brother J.T. Snow, a former San Francisco Giants first baseman and six-time Gold Glove winner, started The Snow Foundation to serve as a collective voice for Wolfram syndrome patients and raise money to help find a cure.

The Snow Foundation is the largest independent supporter of Wolfram syndrome (WS) research in the world, playing a central role in advancing international collaborative WS research efforts. The Snow Foundation is leading a global movement of patients, families, doctors, and researchers who work together to improve the lives of everyone affected by Wolfram syndrome.

The Foundation has three strategic pillars guiding its impact:
1. Accelerate the research and development process for effective treatments for Wolfram syndrome and its various symptoms.

2. Connect people affected by Wolfram syndrome with the information and resources they need to decrease symptoms of WS, slow disease progression, and live healthier, fulfilling lives.

3. Mobilize the Wolfram syndrome community to generate resources to maximize the progress and impact of WS research.