Scientists are running many tests and experiments to try and find a cure for Tay Sachs Disease. It is likely that a cure will be found sometime in the future. Some experiments involve bone marrow transplants and gene therapy, while others have to do with molecular chaperones and stem cells. Molecular chaperones could increase enzyme activity and a dose of substrate inhibition each day could slow down the disease progression. Although these methods of possible treatment will not cure the disease, they help allow a parent to spend more time with their child.
Sunday, November 13, 2011
What is everyday life like? What is the quality of life?
Everyday life is hard when you have any form of Tay Sachs Disease. DJ, a little boy with Infantile Tay Sachs Disease, could not sit on his own when he was fifteen months old. After DJ played with his toys, he became exhausted and fatigued. When DJ was seventeen months old he couldn’t hold his head up anymore; his muscles were slowly becoming weaker. DJ would not read anymore because he was too weak to turn the pages of the book. When DJ was twenty months old, he experienced his first seizure; these seizures scared him, but did not cause him any pain. Near the end of his life, his ability to see was almost gone, but he could still hear. DJ died three days before his sixth birthday on March 9, 2003.
DJ is almost two years old in this picture. 
This picture was taken approximately one year before his death.
All images and information about DJ from: http://www.djhomepage.com/
How can the disease be treated?
Currently there is no treatment for Tay Sachs disease that has been effective. There are many studies occurring to try and find a way to help people with this disease.
What is the life expectancy of someone with the disease?
If a child has the classic or infantile form of Tay Sachs disease, he or she will develop severe symptoms around the age of one and die shortly afterwards. Rarely do children with this type of the disease live past the age of four. If a child has Juvenile Tay Sachs Disease, he or she usually develops symptoms between the ages of two and ten. These children normally die between the ages of five and fifteen. If an adult has Late Onset Tay Sachs Disease, he or she can develop symptoms from adolescence to their mid-thirties. This form of the disease is non-fatal and the patient will live until they die of natural causes.
Rosebush PI, MacQueen GM, Clarke JT, Callahan JW, Strasberg PM, Mazurek MF. (1995). "Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues". Journal of Clinical Psychiatry 56 (8): 347–53.
Saturday, November 12, 2011
What are the physical symptoms of the disease?
Physical symptoms of Tay Sachs Disease are seizures, paralysis, deafness, and loss of motor skills. Other symptoms may include decreased eye contact, decreased muscle tone, and slow growth.
How is the disease diagnosed?
Image from: http://en.wikipedia.org/wiki/File:Tay-sachsUMich.jpg
The doctor may also take other tests such as an enzyme examination to check hexosaminidase levels.
Subscribe to:
Posts (Atom)