Last week, in honor of Rare Disease Day, the Snow Foundation was interviewed by the St. Louis ABC affiliate, KDNL ABC 30. The story focused on Stephanie Gebel and her fight for a cure for Wolfram syndrome and to revolutionize the diabetic world. Here is the story featured on the Jamie Allman Show.
WHAT IS WOLFRAM SYNDROME
Wolfram Syndrome is an autosomal recessive genetic disorder in that the mother and the father each pass two copies of the gene down to the child. Wolfram Syndrome is considered a rare disease and afflicts about 1 in 500,000 people. There are around 30,000 patients in the world who have this disease.
In early childhood, kids with Wolfram Syndrome first develop insulin-dependent diabetes. Unlike common types of diabetes, these children go on to develop blindness, deafness and other neurologic disturbances. Wolfram Syndrome can also lead to loss of sense of smell, problems with balance and coordination, muscle spasms and seizures, urinary tract problems, and irregular breathing.
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 30.
WHY DO WE NEED RESEARCH?
It is crucial that we gain a complete understanding of the complexities of Wolfram Syndrome by performing rigorous research, which will serve as the platform to discover and clinically test successful treatment options. Researchers believe that finding a treatment and cure for Wolfram Syndrome may open doors for treating diabetes and other rare genetic diseases such as Parkinson’s and Alzheimer’s.
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ABOUT THE FOUNDATION
The Snow Foundation is a voice for rare disease, working towards a cure for Wolfram Syndrome and developing novel therapies for diabetes, vision loss, hearing loss and neurodegeneration.
Rare Diseases…Common Problems
In fall of 2010, Raquel Gebel, the five-year-old daughter of Stephanie Snow Gebel, was diagnosed with Wolfram Syndrome, a rare genetic disorder that is accompanied by a deadly form of diabetes. 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 and her brother J.T. Snow, former San Francisco Giants first baseman and six-time Gold Glove winner, started The Snow Foundation to increase awareness of Wolfram Syndrome and to raise money to help find a cure.
The Snow Foundation is the single largest supporter of Wolfram Syndrome research in the world playing a central role in supporting and coordinating international collaborative research efforts. The Snow Foundation also provides valuable insight, resources, and support to the patients and their families. This empowers them with the knowledge necessary to participate in their care and positively impact their future.
Mom on a Mission
by Stephanie Snow Gebel
In October of 2010, my five-year old daughter, Raquel, was diagnosed with Wolfram syndrome, a rare disease which initially presents as Type I Diabetes and ultimately progresses to vision, hearing and brain loss. The onset is typically at 4-5 years old with a 5-8 year span before hearing, vision and brain degeneration begins. Tragically, sixty percent of patients affected by Wolfram Syndrome die by their 30th birthday.
As a mother, my heart aches and it’s hard to watch Raquel deteriorate before my eyes. Looking at Raquel’s sweet smile you would never suspect that she has a rare disease and there is a battle going on inside her body. Raquel struggles with severe diabetes, bladder issues and unbearable headaches, apart from blindness and hearing loss. This disease is slowly stripping my child of her independence and her ability to enjoy life like most children her age. Without a cure, Raquel will die young. As a mother I will not stand silently by and watch my child suffer. Since Raquel’s diagnosis, I have always believed that God knows that I can make a difference, first for the outstanding team of doctors and researchers for the Snow Foundation and ultimately for everyone around the world who is affected by this disease.
The Snow Foundation has identified a new cellular mechanism responsible for diabetes, and neurodegeneration. The Snow Foundation team is very close to identifying potential treatment options. Our research will lead to new therapies and potentially a cure for diabetes and other neurological disorders such as Alzheimer and Parkinson’s. Please help contribute to our foundation and help save my daughter and others like her.