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Free Example of Tay-Sachs Disease Essay

The Trosack family bears both good and bad news on their discovery that they are expecting a baby after two years of trying to conceive. The good news is that Rita is pregnant with Peter’s child and after a visit to the prenatal clinic, she comes with bad news. A Chorionic Villus Sampling test reveals that the fetus is afflicted with Tay-Sachs disease.

According to the National Institute of Neurological Disorders and Stroke (2011), Tay-Sachs disease is a fatal progressive genetic disorder caused by the absence or insufficiency of hexosaminidase A (HEXA) enzyme that leads to abnormal accumulation of GM2 ganglioside lipids in nerve cells, especially in the brain. This accumulation leads to gradual destruction of the affected cells. The disease is known to afflict the general population but ‘a higher prevalence has been found to occur among people of eastern European (Ashkenazi) of Jewish origin, Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana. The Cure Tay-Sachs Foundation (2013) identifies three forms of Tay-Sachs disease, depending on the period of onset and nature of the symptoms: Infantile or Classic, Juvenile and Late Onset or Chronic Tay-Sachs.

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Composition of the Interdisciplinary Team

Pediatric geneticist: a pediatric geneticist is a pediatrician trained in medical genetics and understands congenital disorders in children. The doctor can identify the etiology and natural progression of hereditary conditions in children. This member shall be invaluable in providing expert opinion on how Tay-Sachs disease is acquired, inherited and how it can be avoided. This information is important to the couple in case they may want to have other children in future.

Neurologist: Tay-Sachs disease affects the nervous system, especially brain with serious deleterious effects to the afflicted. The team will need the services of a neurologist in determining the extent to which the nervous system will be affected by the disease, and offer expert opinion to the couple on the risks of carrying the fetus to term and effects on the baby when born. With the insights of a neurologist, the couple will be able to make informed choices on what to do about their condition.

Family counselor: Any couple faced with devastating news of a fatal congenital anomaly in the family needs a great deal of emotional, psychological and mental support. Such sad news result in denial, emotional stress, feelings of failure and may even lead to substance abuse. Therefore, a counselor comes in handy to offer emotional and psychological support, and at the same time provide guidance on the way forward.

Obstetrician: The obstetrician is an important member of the team because this is a specialist in pregnancy and all that pertains to it. Rita is a special case and hence needs close observation of the obstetrician and expert opinion on the risks pertaining to carrying the baby to term. The obstetrician should be in the position of providing the alternative cause of action and overseeing the pregnancy through the trimesters and always on the lookout for any sign of complications.

The Teaching Plan

Genetic Diagnosis

It is important for Rita and Peter to understand how their unborn child got to be afflicted with Tay-Sachs disease from the hereditary point of view. To determine this, both parents need to be tested for hexosaminidase A activity, results of which will show whether they are careers or not. According to Kaback & Desnick (2011), the determination of affected individuals is by demonstration of absence of HEXA enzymatic activity in serum, white blood cells or other tissues. To determine the gene causing hexosaminidase A deficiency, targeted mutation analysis needs to be carried out on the couple. As Kaback & Desnick (2011) argue, the most mutations consist of:

Three null alleles (p.Tyr427llefsX5, c. 1421+1G>C, and c. 1073+G>A), a homozygous state associated with TSD.

The p.Gly269Ser allele usually linked with chronic form of Tay-Sachs disease.

Two pseudo deficiency alleles (p.Arg247Trp and p.Arg249Trp) which bear no neurologic symptoms but linked with diminished degradation of the synthetic substrate when determining HEXA      enzymatic activity.

Therefore, in determining mutations particular genes will point to the carrier state of the couple with Tay-Sachs disease.


In case the couple decides to carry the pregnancy to term, it is pertinent that they understand the stark odds they face in terms of the baby’s survival. Being a genetic disease Tay-Sachs disease has no treatment at all. As such, treatment for this condition is largely palliative and is aimed at ensuring that the afflicted person gets adequate nutrition, managing opportunistic infections, keeping the patient well hydrated and controlling seizures. The use of antiepileptic drugs has proven beneficial in managing the seizures in children. For adults the antidepressant therapy is useful, although it is just temporary. Other methods under consideration for treatment of this condition include enzyme replacement therapy and Gene therapy.


According to the National Institute of Neurological Disorders and Stroke (2011), Tay-Sachs disease has very poor prognosis with afflicted children surviving until their 5th birthday. As such, this condition is fatal and any couple who are carriers should be privy to this fact in order to make informed choices concerning childbearing.

Support group and appropriate referrals

Due to the high mortality rate associated with Tay-Sachs disease, the Trosacks need all the support they can get, especially that Rita is pregnant with an afflicted fetus. Several organizations are dedicated to researching on Tay-Sachs disease and can be the sources of invaluable information on the condition. They include: National Tay-Sachs & Allied Disease Association, National Institute of Neurological Disorders and Stroke, National Organization for Rare Disorders, March of Dimes Birth Defects Foundation and the Mayo Clinic.

Pregnancy information

For the Trosacks, it is advisable that they seek genetic counseling before trying to conceive again. But as is the case, Rita is pregnant and thus has to undergo chorionic villus sampling to determine the health status of the fetus. A visit to a specialty clinic should be paid in order to evaluate progression of the pregnancy and monitor for any complications.

Ethical implications regarding availability of personal genetic information

Personal decisions

The availability of personal genetic information can allow the couples to make wise decisions when they decide to start a family. The inheritance of hexosaminidase A deficiency occurs in autosomal recessive manner, when both parents are carriers. That is, each child has a 25% chance of being affected, 50% chance of being asymptomatic carrier and 25% of being free of Tay-Sachs disease. Therefore, couples can opt for in-vitro fertilization in which healthy ovum and sperm are determined before implantation. This will drastically reduce the chances of inheriting Tay-Sachs disease.


Abortion is highly emotive issue, especially when is tied to religious beliefs. However, there have been arguments as to whether science augments or contradicts religion and especially the creation theory. Be it as it may, any couple has to understand the fatal nature of Tay-Sachs disease and its poor prognosis. To subject a child to a short and miserable life, especially where his/her chances of survival are almost negligible, beyond the child’s 5th birthday, is cruel and selfish of the parents. If it is proven that the fetus is afflicted with the condition, then the early termination of pregnancy should be a choice to seriously consider.

Genetic testing

It is prudent for people to practice good health seeking behavior despite their health conditions. Scientific breakthroughs in the areas of genetic determination of health predisposition to congenital disease can be of great importance. People should undergo genetic profiling in order to determine whether they are at risk or not. This can enhance keeping genetic diseases at bay.

Reflections of the Trosacks Case

The Trosacks are an unfortunate couple and fate seems to conspire against them. After trying to conceive for two years, they finally conceived but then their unborn child has been diagnosed with a fatal genetic disorder. The denial of Peter and Ritas’ self-blame for working hard which results in affecting the baby is understandable. However, one cannot help but castigate their ignorance of the true cause of the fetus condition. Given that this is a couple living in the 21st century and having access to the latest information pertaining to health issues, they seem not to look at the issue with the clarity it deserves. Refusing to accept the results combined with their lack of presence of mind to consider abortion as an alternative, is just but wishing away the problem they face. Their personal beliefs and religious inclinations skew their objective thinking and if they decide to carry the pregnancy to term, then the aftermath of raising a child with Tay-Sachs disease shall be their wake up call.

However, Tay-Sachs disease occurs in three forms, as observed above. If they are lucky, that it is the form that manifests in the late adulthood, and their decision not to abort the fetus will be their lucky mojo. Though being the non practicing Catholics, their decision to keep the baby is out of their religious and personal reasons, which to say the least is remarkable. The couple needs every support they will get in raising the child; after all, they have tried for two years to conceive. As to whether abortion is legalized or not, professional opinion from a qualified doctor as to the consequences of their decision needs to be given a serious thought and the child’s wellbeing after birth must be part of this decision making process.

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