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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Xavier's Story

This page is dedicated to my son, Xavier, and my mission to raise awareness and funds for a disease that is robbing him of his future. 

This is Xavier. He has a very rare and degenerative genetic disease called Sandhoff disease. He is an incredible little man who just turned 7 years old in November.

Since we learned of his diagnosis, we have been making the best of it with the support of our family and friends. He is still attending Silver Creek Pre-school - a school that serves children with physical and developmental challenges. He has a wonderful time with his classmates, doing crafts, music and many other fun activities, which has been incredible for him and our whole family.

You can follow this story on his Facebook page: https://www.facebook.com/forXavierSilva?pnref=story

We are updating this page for a 2nd Hair Cutting Fundraising event. It’s been over 3 years….and I’m due for a shearing. This is inspired by Xavier having a haircut of his own this week….and well, let’s just say my wife isn’t particularly thrilled at being married to a Sasquatch. (Here is a video montage of the last event https://www.facebook.com/forXavierSilva/videos/679733048819782/)

This is inspired by Xavier having a haircut of his own this week….and well, let’s just say my wife isn’t particularly thrilled at being married to a Sasquatch.

  

Please donate if you can. Share this page with all of your friends and families.

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Be sure to leave Xavier a note in the comments section of the gift page or email me at This email address is being protected from spambots. You need JavaScript enabled to view it..

Watch this page and Xavier's Facebook page to stay in touch.

 

Thank you so much for your support and standing with us as we celebrate my son every day.

 

 

 

 

   

 

 

What is Sandhoff?

Sandhoff is a lysosomal storage disorder. It is caused by a mutation in the gene responsible for the vital enzymes called beta hexaminidase A and B. The role of these enzymes is to degrade a fatty substance or lipid called GM-2 ganglioside. In the absence of the enzymes, GM-2 accumulates abnormally in cells, especially in the nerve cells, or neurons, of the brain. This ongoing accumulation, or "storage", of GM-2 causes progressive damage and eventually death of the cells.

What about research?

Sandhoff Disease research is usually performed simultaneously with Tay-Sachs disease research. This is because these two diseases have a similar underlying biochemical mechanism.

Read more about the Research We Fund here.

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