Team NTSAD
NTSAD supports families through our work to fund research, prepare them for navigating the complicated world of clinical trials, connect them to a broader community, and the invaluable resources they need as they care for themselves and their children.
Why We Ride
After grief and sorrow, the most prevalent feeling one has after having a child diagnosed with an incurable illness is a sense of helplessness—utter, complete, paralyzing, depressing helplessness. Watching your child sicken and die while you, the parent, stand by unable to intervene is a profound trauma. How to cope? Where can one be effective in the face of such overwhelming powerlessness? For us, the only answer was to attack the enemy, the disease. And one does that by making an all-out effort to find a cure. Finding a cure requires raising both awareness and money. ‘Riding for a Cure’ accomplishes both these goals in a grand way. Everyone seeing hundreds of riders in their bright jerseys on the streets of Philadelphia and in the suburbs will know what we are about and what we need to accomplish.
Diseases We Support
Canavan is a progressive neurological genetic disorder caused by the absence of a vital enzyme known as aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly. It is one of over 50 genetically inherited disorders known as Leukodystrophies Diseases.
GM1 Gangliosidosis is caused by the absence or significantly reduced level of a vital enzyme called beta-galactosidase (GLB1). Without GLB1, a fatty substance or lipid called GM1 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.
The Juvenile and Late Onset forms of GM1 occur when the mutations allow the GLB1 enzyme to function a little bit. Just a small increase in GLB1 activity is enough to delay the onset and slow the progression of symptoms.
Sandhoff disease is caused by the absence or significantly reduced level of two vital enzymes: Hexosaminidase A (HexA) Hexosaminidase B (HexB). Without HexA & HexB, 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.
The Juvenile and Late Onset forms of Sandhoff occur when the mutations allow the Hex A and Hex B enzymes to function a little bit. Just a small increase in HexA and HexB activity is enough to delay the onset and slow the progression of symptoms.
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.