"Life off Earth is in two respects not at all unwordly: you can choose to focus on the surprises and pleasures, or the frustrations. And you can choose to appreciate the smallest scraps of experience, the everyday moments, or to value only the grandest, most stirring ones." - Chris Hadfield, An Astronaut's Guide to Life on Earth
The Payettes were able to attend the 2016 Family Conference, and felt that they greatly benefited from meeting and getting to know other families like them. In honor of their daughter Kit, they would like to give back and make it possible for other families to experience that as well.
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.