Melissa L Kajeejit
Professor Tierney
ENC1102
5 February 2009
Tay - Sachs Disease To live life with a disease or not? Unfortunately we cannot make that decision in today’s society. Everyday a new life is brought into this world inheriting a genetic disorder that has minimal treatments. Tay – Sachs disease is among one of the hundreds disorders that affect communities and while it is more common in a certain part of the world it still could affect an individual that least expected it. Warren Tay (1843-1927) and Bernard Sachs (1858-1944) were the first to recognize symptoms of this genetic disorder. Tay, an ophthalmologist, examined retinal damage in an infant and noticed that she had “very little power holding her head up and moving her limbs.” Sachs, a neurologist, discovered several years later a similar case noting the damage “as it grew older, no signs of increasing mental vigor.” After treating multiple children Sachs came to a conclusion that all were of Jewish descent primarily affecting the Ashkenazi Jews. There are three levels of severity for this genetic disorder, each level being diagnosed early in life and resulting in death. “Infantile”, “Late Infantile”, and “Adult” are the three most common forms that one is diagnosed. (Abel 126-27) Tay – Sachs disease occurs when there is an absence or low levels of a vital enzyme called Hexosaminidase (Hex-A), which is needed to break down a fatty substance called GM² Ganglioside. When the fatty substance cannot break down it produces abnormally causing severe damage to the nerve cells of the brain. The process in which it develops could occur as early in a pregnancy but symptoms may not show until the child is several months old. Increased weakness, loss of motor skills, and being unable to focus are vital signs that a child is suffering from this disease. Most of the signs occur at an early age, however, as a child becomes older the symptoms rapidly increase resulting in pneumonia and death around ages three and four.
In order for a child to inherit Tay – Sachs disease both parents must be carriers of the defective gene (Hex-A). It is highly recommended for an adult to be tested for Hex-A, because there are currently no treatments or cures for Tay-Sachs. In a rare case, if an adult begins to show signs of Tay-Sachs they could be treated with medications for seizures, antidepressants, or antipsychotics (Abel 133). Since 2002 clinical trials have been in effect