Genetic Disorder: Tay-Sachs Disease
Uploaded by Sherodel on May 07, 2004
My name is Put your name.. and I am a carrier of Tay-Sachs Disease; my partner is also a carrier of this disease and our child is affected with Tay-Sachs Disease. Tay-Sachs Disease is a recessive genetic disorder which contains harmful quantities of fatty substances called Ganglioside GM2 which harms the nerve cells in the brain. This disease mostly affect infants. The only way for a baby to be affected with this disease is when both of the parents is a carrier of this disease. There is a good 25% chance that the child with have this disease. An affected baby appears normal at birth and the first couple of months, but when the child is six months old, it begins to get the symptoms and they will even get noticeable cherry-red spots in the back of their eyes.
When my child was six months old, I began to notice that he didn’t really move a whole lot, and that he had cherry-red spots on the back of his eyes. So I took him to the doctors and they told me that he has the disease called Tay-Sachs Disease. At first, I did not know what Tay-Sachs disease was until he told me a little bit about it and gave me a brochure on it. But, the part that upset me the most about this disease is that my partner and I were carriers of this disease and we gave it to him. After I learned more about this disease, I learned that there is no cure or treatment for this disease. The only thing that we could do was to make him as comfortable as possible.
When he was about 2 years old he started to go blind, deaf, unable to grasp objects, he was unaware of his surroundings, he stopped smiling, couldn’t swallow and he became paralyzed. He got so bad that we could not take care of him anymore. We had to take him to National Tay-Sachs and Allied Diseases Association in Massachusetts. That was the only organization that would even take him. I felted so bad taking him there; I felt like a horrible parent that could even take care of her own child; having other people taking care of my child for me. Everyday, I would go down to that place and watch my child sit in a wheelchair and stare out the window, not moving,...