The Snow Foundation

Meet Gianna, a fearless 11 year old girl.  Born deaf and receiving cochlear implants at ages 1 and 2 years, she is no stranger to overcoming obstacles.  After failing her Kindergarten vision screening and what seemed like hundreds of doctor appointments, tests, and hours of research, we received results that left us devastated, but never without hope.  We were told Gianna had Wolframs Syndrome, a rare genetic neurodegenerative disorder that affects many of the body’s systems.  Wolfram Syndrome affects an estimated 1 in 500,000 people worldwide.  Key clinical finding are Type I diabetes, optic nerve atrophy (resulting in progressive vision loss), and hearing loss.  The average life expectancy is 30 years.  As a parent of a child with a rare disease, it is paralyzing to see any disease progression in your child, and know that, at this time, there is absolutely nothing that can be done to slow, stop or reverse the disease progression.  

Clinical research is being conducted at Washington University School of Medicine, led by Dr. Fumihiko Urano.  With the support of the nonprofit organization The Snow Foundation, Dr. Urano has been able to hold research clinics to improve clinical care, raise awareness, and work towards developing novel treatments for Wolfram patients.  Unfortunately, due to the rarity of Wolfram Syndrome, there is currently very little funding allocated for it.  Time is of the essence for both research and the treatment of this horrible disease.  

Carl and I are determined to give a much needed voice to Wolfram Syndrome in our community.  Our goal is to do what we can to help The Snow Foundation raise critically necessary funding to support the research that is needed to get a drug out for these children; a drug that will stop the progression of Wolfram Syndrome.
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