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). While this disease is overshadowed by other “popular” genetic diseases with a larger amount of cases, such as Parkinson’s and Alzheimer’s, by being overlooked in favor of other diseases, Tay Sachs cases occur, many of which could have been easily avoided through certain, simple medical precautions and practices.
Major advances and improvements to healthcare and preventative care allows future occurrences of Tay-Sachs disease to be prevented with prenatal and preconception screening and education of prospective parents but current programs are not sufficient enough to completely prevent the disease; all prospective parents should be educated and encouraged to undergo the screening process, in addition t screening and prevention programs should be expanded due to the ability to prevent the disease and the decreased cost as compared to end of life care.
Preventative care, as the name implies, allows for the avoidance of potential cases and lowers the morbidity, or occurrence, of Tay-Sachs in a given population. As stated by Norita Hussein, the ability to predict the occurrence of the disease in their children by screening, allows the couple “to make fully informed reproductive choices” for the future of their family, whether it be In-Vitro Fertilization or adoption (Hussein). Through the help of preconception and prenatal programs and procedures that allow them to be tested for their carrier status, the couple are made cognizant of the chances they have to bear an affected child.
This knowledge does not prevent the occurrence of or directly remedy Tay-Sachs disease directly, it prevents random cases of Tay-Sachs that otherwise would have occurred had the parents not known their risk. Unnecessary suffering is avoided, on part of the child who was just born and the parents who would have to bear; couples who otherwise would have to live with this affliction are unscathed and have a chance to live a normal life.
Examining past a single family unit, a scientific study took place in Australia, observing the large Jewish population, who are historically known to have a high occurrence of this disease than the general population. Through efforts to screen and counsel those who tested to be carriers for the disease, there were less Tay-Sachs children born than calculated and predicted based on the model of the sample of Jewish people tested (Lew). In spite of a high occurrence of Tay-Sachs in the Jewish population, thorough testing and preconception tests allow these incidences to be avoided before the child is even conceived as a thought.
In addition to the decreases in incidences, the cost of screening is significantly less than the harsh economical and psychological burden of care. In one case of Tay-Sachs, Benjy, a two year old child afflicted with the disease, and his parents rely on Aetna, a health care company, to pay for “$1 million for treatments” that only stabilized his condition and slowed the degeneration (Ramirez). Very few people, including those who are not parents, could pay such a sum without aid.
This economic burden affects the family profoundly, something that could have been easily avoided with “a simple blood test” in addition to a normal medical “check up” (“Tay-Sachs Disease”). The cost of testing is also decreasing, due to advances and improvements to the efficiency and efficacy of the testing, making it more comfortable to undergo testing (Lew). Due to the trend of the decrease in cost, testing may be more economically feasible to perform on a larger portion of the population.
Also, with the improvements of the Tay Sachs disease procedure as well as the decrease in cost entices couples to be tested that would have opted out of undergoing testing for discomfort or “unnecessary” cost. There also exists psychological taxes with a positive diagnosis of Tay-Sachs in a child; Norita Hussein states that “the need for medical care, as well as, psychological intervention to offer behavioral and emotional support imposes a potentially high economic… burden” (Hussein).
With the current medical practices and technologies, there is no cure, just inevitable death for the child. The affliction would render those affected blind, deaf, crippled, slowly depriving them of senses. Any caring parent would be devastated and powerless; they are unable to stop the progression of the disease but are only able to desperately slow the affliction and prolong what fleeting life they still have. Avoiding this heartache altogether with preemptive measures would be less traumatizing to the couples.
Despite all of the benefits of preconception and prenatal screening, certain misconceptions and stigmatisms, as well as ethical morals, surround genetic testing. 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 prenatal screening is the screening of the possibly “defective” embryo, the expecting parents are given multiple reproductive choices through genetic counseling, one of which is to abort the child. This method is vehemently opposed by some on the basis of humane and equal chance at life. However, as one mother states “I didn’t feel it was right for me or for my child…
And if she had been born with serious deformities and only suffered during her short life, I couldn’t bear to live with that” (“Choice Between Late-term Abortion”). Abortion robs the fetus a chance to live but takes away suffering and agony from both the child and parent. The child is not born to die, rather, it is saved with compassion from a painful death. A course of action to alleviate these concerns, misunderstandings of preconception and prenatal testing, as well as, the morbidity of the disease would be to expand testing and screening programs and promote education for these functions.
Currently, there are programs already in place, primarily integrated into communities that have a history with Tay-Sachs. This narrow inclusion of the program raises a few issues in modern day society: However, these screening methods are insufficient for the modern era, as current Tay Sachs disease carrier screening to individuals of Ashkenazi Jewish… or Cajun descent… [however] this demonstrates the limitations of self-reported ethnicity and the potential occurrence of genetic disease in ethnic groups other than those that are ‘high risk’…
With an increasing population diversity and clinical utilization of pan-ethnic screening, optimal screening protocols are needed for [Tay-Sachs disease]. (Mehta) This transition is also mentioned by Shivani Nazareth, who states that the “nebulous social construct of race and ethnicity” are the “pitfalls” of the conventional screening method (Nazareth). Prenatal screening, traditionally, was recommended and done for people of ethnic background that were historically linked to the disease, such as the Ashkenazi and the Cajun.
However racial becomes blurred as people become more accepting of trans-ethnic marriages and arrangements. This results in occurrences of Tay-Sachs outside the expected population, some of which can be avoided through the establishment of a “pan-ethnic” screening program. However, such a program may be deemed unnecessary and economically unfeasible by some to create and uphold. On the same token, the treatment and toil for the child is equally as taxing (Beaudet). Also, the sad task of caring for the helpless child is fruitless and unrewarding with the current medical technology as the baby is already diagnosed for death.
In addition to the expansion of screening programs for Tay-Sachs to other ethnic groups outside those who traditionally have been attributed to the disease, education is key to preconception and prenatal screening; without knowledge of the procedure and the meaning of the results, efforts to promote screening would be met with a large amount of antagonism or would amount to nothing. As stated by Barton Childs in his analysis of the current system, “Preventative medicines cannot be effective in the face of public ignorances…some are made anxious, steps should be taken to reduce the unease rather than not provide the service” (Childs).
As previously stated, any misconceptions and beliefs surround genetic screening. Many would be unsettled at the idea that they were being analyzed at the genetic level, searching for a fundamental flaw in the letters of DNA that define you. It is important that public awareness and education is used to assuage such fears and encourage people to undergo the process. Education also is the direct prevention of Tay-Sachs disease: “Community education, appreciation of autosomal recessive inheritance and genetic carrier screening… re likely factors in finding fewer than expected Jewish Babies with [Tay-Sachs disease]” (Lew).
Screening and testing plays a role in the deterrence of the disease’s spread but it does not inherently prevent the disease. Without knowledge of these disorders and the application of it, screening and testing for Tay-Sachs alone does little in the prevention of the disease. As scientist and doctors are researching the cure for Tay-Sachs disease, currently there is little the human population can do to stop the disease other than end of life care.
It may not become front page news such as cancer or Alzheimer’s, and it does not affect nearly as many people, but it still is a lethal disease to infants. However, with current medical technology, we can prevent the manifestation of this disease, even in groups of people where there are a larger amount of carriers. While there still exist fear and vehement opposition to general screening and education for the Tay-Sachs disease, it is a necessary service because of its effects on lowering the incidence of the disease and the decreased monetary and emotional taxes as compared to traditional care.
