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

Meet Nikko.

Meet Nikko.

He was born on May 14th, 2015.

Nikko's mom writes, "He is our firstborn son. Since day one I always knew as his mother that he was angelic and filled a room with so much love with just his presence. What I didn't know was Nikko would be diagnosed at 11 months with Tay-Sachs disease and our world would come crashing down around us...With love there is always a fight and always hope and that is how we get through each day..We fight and win and some days we lose but Nikko fights through it all and that is why he is my superhero my SuperNikko." 

#Nikkostrong #family#RareGENEius #GiveToday #Love

 

Meet Nikko.

What is Tay-Sachs?

Tay-Sachs disease is caused by the absence or significantly reduced level of a vital enzyme called beta-hexosaminidase. It is the Hexosaminidase A (HEXA) gene in the DNA that provides instructions for making this enzyme. Without the correct amount of the HexA enzyme, a fatty substance or lipid called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation, also called "substrate", causes progressive damage to the cells.

Infantile Tay-Sachs is typically the absence of the HexA enzyme. This differs from the Juvenile and Late Onset forms of Tay-Sachs when the mutations allow the HexA enzyme to function a little bit. Just a small increase in HexA activity is enough to delay the onset and slow the progression of symptoms.

What about research?

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

Read more about the Research We Fund here.

Read past NTSAD's Research Reviews here.

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