Tay-Sachs Disease, No Cure, No Treatment. What Are The Options? Tay-Sachs disease (TSD) was first described in 1881 by English physician, Dr. Warren Tay and then more fully described in 1887 by American neurologist, Dr. Bernard Sachs. TSD is a regressive genetic disorder, in which symptoms usually develop within the first six months of life and usually ends fatally around four to five years of life. Steven Ainsworth says TSD is, “caused by the absence of a vital enzyme called hexosaminidase-A. Without this enzyme, a fatty substance called ganglioside builds up in the cells of the nervous system, causing them to stop working normally and eventually killing them.” (31). This basically stops development, including respiratory, motor, and several other functions. Tay-Sachs disease has plagued mankind for over a century, and with no treatment or cure discovered mankind is left with three main approaches to prevent and reduce the incidence of the disease. According to Hilary Vallance and Jason Ford, it was in 1970 that carrier testing was introduced for TSD by measuring the activity of hexosaminidase isoenzymes (476). This screening allowed individuals from high risk groups, like the Jewish community, to be identified as carriers. Vallance and Ford also said, “In North America since 1983, there have been 3 to 5 TSD-affected children born per year compared with approximately 60 new cases per year prior to screening.” (476). If these high risk couples that choose to try and have children they are left with two options, prenatal diagnosis or preimplantation diagnosis. For couples who choose to go with a preimplantation diagnosis, this is done by in vitro fertilization, where the embryo can be tested for the gene defect prior to implantation. The healthy embryos are taken and placed in the mother’s womb, while the unhealthy embryos are discarded. This process can be viewed by some to be genetic selection and unnatural, so it is said to be the more controversial method. In prenatal diagnosis couples have two choices. They could go with chorionic villus sampling (CVS), which is the most common form of prenatal diagnosis, and is usually performed between ten and fourteen weeks of gestation. The second option is amniocentesis, which can be performed around fifteen weeks. Couples must keep in mind that both of these prenatal procedures have a low risk of miscarriage. If the fetus has inherited the defective gene copy from both parents, the couple can then choose to abort the fetus or come to terms with having a child with TSD. Even though currently there is no known cure or treatment for TSD, there is some promising experimenting taking place. One such experiment is the replacement of the nonfunctional enzyme, similar to insulin for diabetics. Yet, in past studies the enzyme itself was thought to be too large to pass through the blood-brain barrier. So even though there have been no successful cures or treatments found yet, with every failed attempt researchers come closer to success. Until that success is reached keep in mind that with genetic screening, according to Michael M. Kaback’s report in the European Journal of Pediatrics, “In the United States and Canada, the incidence of TSD in the Jewish population has been reduced by more than 90%.” (S193). With knowledge and awareness mankind can make real differences.
Works Cited
Ainsworth, Steve. “Tay-Sachs Disease: A Triumph from Disaster.” Practice Nurse 41.3 (2011): 31-32. Academic Search Premier. 21 Aug. 2012.
Kaback, Michael M. “Population-Based Genetic Screening for Reproductive Counseling: The Tay-Sachs Disease Model.” European Journal of Pediatrics Supplement 159.S3 (2000): S192-S195. Academic Search Premier. 21 Aug. 2012.
Vallance, Hilary and Jason Ford. “Carrier Testing for Autosomal-Recessive Disorders.” Critical Reviews in Clinical Laboratory Sciences 40.4 (2003): 473-497. Academic Search Premier. 22 Aug. 2012.