It really has been only six months since I found out that my 26-year-old fraternal twin daughters, Katie and Allie, have Late Onset Tay-Sachs (LOTS). We have been very busy since then. We have raised over $158,000 for research, since there is very little taking place on this disease. We are in the process of determining where to best spend the money for the most positive outcome. It is one thing to track the progress of the disease, which is called bio marking, and it is another to have a clinical trial that includes a drug. I'm not the patient type of person -- been type A my whole life -- and I want answers and solutions now. Except, sadly, I know it doesn't work that way.
The foundation we are working with (NTSAD) is diligently searching for where to best spend the money. In the meantime, we continue to raise money through donations generated by social media, mostly friends and family. We have had several advertisements run in The New York Times, which have resulted in donations. The New York Times has also run stories online and in the Magazine about my children and their condition. All this helps to spread the word and get the message out. After all, most people still perceive this disease as one that is limited to the Jewish population, particularly people that are Ashkenazi Jews from Central and Eastern Europe. That is not the case for us. Neither one of us knows of any Jewish heritage. And the disease is now in the French Canadian, Cajun and Irish communities, to name a few. We have uncovered that most of my husband's family is from the Louisiana area and quite possibly Cajun, but still no connection in my heritage that we know of since I'm 100% Italian.
If you are interested in learning more, please visit the website http://www.ntsad.org/index.php/allie-katie-buryk-research-fund or if you would like a piece of jewelry that is beautiful and 20% of the proceeds goes to research, go to this website.
And spread the word, so unsuspecting parents like Bill and me aren't faced with the same devastating news we have had to deal with.
More:Late Onset Tay Sachs Rare Diseases Rare Disease Research Rare Disease Awareness Genetic Disorders
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