Hello, my name is Stephanie Shneydman. I am a senior at Watertown High School in Watertown, CT. As a senior requirement for a capstone project, I will be fundraising money in different ways for the National Tay-Sachs and Allied Diseases Association. One way I will be fundraising money will be at my last high school swim meet, which is on October 12 at 5 P.M. I will be selling water bottles for $2 each and all of these donations will go directly to NTSAD. Another way I will be fundraising for this association is through online. I will attach a link on social media and on NTSAD that will direct you to my own page where you are able to directly donate money (if you are unable to attend the swim meet) online.
A little bit more on the disease and how it relates to me… I had a brother, named Jason, who was born on August 18, 1995 and got diagnosed with Tay-Sachs disease on March 5, 1996. Tay-Sachs disease is a rare inherited disease in which fatty substances, called gangliosides, build up to toxic levels in the child's brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death. Symptoms include loss of motor skills, including turning over, crawling and sitting up. Other symptoms include exaggerated reactions when the baby hears loud noises, seizures, vision and hearing loss, "cherry-red" spots in the eyes, muscle weakness, and movement problems. It is most common in Ashkenazi Jews, which I am one. This disease is very rare, in fact, there are only fewer than 20,000 US cases per year. Although there is no cure for Tay-Sachs, there are ongoing investigations into the different types of genetic mutations in different populations which cause these diseases. This also provides data which can help with early and efficient identification of new patients. It could also provide future predictive measures of the severity of the disease and personalized treatment opportunities. A study is also underway in Canada to investigate the efficacy of an online educational model, which is being shown to individuals of Ashkenazi Jewish descent prior to carrier screening.
With creating a successful page, I hope to receive donations that will help provide more finance towards current ongoing research for finding a cure towards Tay-Sachs and other allied diseases. The money that will go towards NTSAD will also help all the families that have children that are currently diagnosed with fatal diseases.