Tay-Sachs Disease, No Cure, No Treatment. What Are the Options?

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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…...

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