Tay-Sachs Disease
A rare and fatal disease, Tay-Sachs is characterized as one of the devastating neurodegenerative disease. Children afflicted with Tay-Sachs “lose motor skills and mental functions” eventually becoming “blind, deaf, mentally retarded, paralyzed...Tay-Sachs children usually die by age five” (“Tay-Sachs Disease”). A diagnosis of infantile Tay-Sachs is akin to a death sentence; the only form of care would be comfort for death. Tay-Sachs is passed on genetically from parent to child and, as it is an autosomal recessive disorder, “When both parents are carriers, there is a 1 in 4 (25%) chance, with every pregnancy, of having a child with Tay-Sachs disease...a 2 in 4 (50%) chance...of having a child who is a Tay-Sachs carrier” (Tay-Sachs Disease).
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Concerning genetic testing in general, a study found that among those who were confirmed to have the Tay-Sachs recessive gene, “about half of the carriers expressed a sense of shocked surprise… having been found to have some imperfection” (Childs). A lack of understanding or a false misconception about the idea of “carrier” status results in discomfort and an unwillingness to be tested; preferring a state of blissful ignorance. Since Tay-Sachs is an autosomal recessive disorder, being a carrier does not mean one has an “imperfection” or one has the potential to develop the disease but that they have the potential to pass on the disease to their children. They also do not express symptoms of the disease-- a common misbelief. And, even despite being a carrier, it does not mean that one’s child would ultimately be a Tay-Sachs child or even a carrier; “if only one parent is a carrier, there is no chance the child will have Tay-Sachs...a 2 in 4 (50%) chance that the child will be a carrier” (“Tay-Sachs Disease”). A diagnosis is not a condemning statement, but makes the prospective parents aware of the “potential” harm that might befall the child, if both happen to be carriers. In addition, Rosner states that “if the purpose of Tay-Sachs screening is to provide eligible clients with genetic counseling about reproductive and mating options, few would argue against screening” (Rosner).The common stigma that genetic screening may be used outside of medical usage breeds the misconception that genetic testing is wholistically bad and may be used to harm the individual. However, Rosner argues, that genetic screening is inherently not bad, but the way we use it. However, on the topic of the latter method, prenatal screening is riddled with controversy, specifically with the ability to pick the reproductive route. Since
Concerning genetic testing in general, a study found that among those who were confirmed to have the Tay-Sachs recessive gene, “about half of the carriers expressed a sense of shocked surprise… having been found to have some imperfection” (Childs). A lack of understanding or a false misconception about the idea of “carrier” status results in discomfort and an unwillingness to be tested; preferring a state of blissful ignorance. Since Tay-Sachs is an autosomal recessive disorder, being a carrier does not mean one has an “imperfection” or one has the potential to develop the disease but that they have the potential to pass on the disease to their children. They also do not express symptoms of the disease-- a common misbelief. And, even despite being a carrier, it does not mean that one’s child would ultimately be a Tay-Sachs child or even a carrier; “if only one parent is a carrier, there is no chance the child will have Tay-Sachs...a 2 in 4 (50%) chance that the child will be a carrier” (“Tay-Sachs Disease”). A diagnosis is not a condemning statement, but makes the prospective parents aware of the “potential” harm that might befall the child, if both happen to be carriers. In addition, Rosner states that “if the purpose of Tay-Sachs screening is to provide eligible clients with genetic counseling about reproductive and mating options, few would argue against screening” (Rosner).The common stigma that genetic screening may be used outside of medical usage breeds the misconception that genetic testing is wholistically bad and may be used to harm the individual. However, Rosner argues, that genetic screening is inherently not bad, but the way we use it. However, on the topic of the latter method, prenatal screening is riddled with controversy, specifically with the ability to pick the reproductive route. Since