Tay-sachs disease - Case Study Example

TAY-SACHS DISEASE Tay-Sachs Disease: A Case Study and A Reflection Word count 250 (5 pages) A. An Analysis of theCase Study I. Three Interdisciplinary Team Members to Be Present at the Initial Visit a. Why Each Team Member Was Chosen There should be at least four different people present at the initial visit of the Trosacks. There should be present: a nurse, a medical doctor, a geneticist, and a chaplain. Each person would play a significant role in helping to advise the couple as to what their options are. The nurse would probably provide information about the pregnancy; the geneticist would provide information about the disorder; the doctor would probably give a formal diagnosis and give the Trosacks a chance to ask any questions, and inquire about their various choices or options that they would have regarding the pregnancy; and the chaplain would be available if they needed to discuss any spiritual or religious matters about how aborting the pregancy might make them feel afterwards. b. Type of Information from Each Member The type of information that the Trosacks would get from each member would definitely be markedly different. For example, the nurse would probably be available in a capacity that was strictly in order to help Mrs. Trosack learn more about her pregnancy and the practical issues that might arise with the responsibilities she were to accept the challenge to be a mother to a Tay-Sachs child. In terms of the geneticist, the geneticist would be able to logically explain why their unborn child has Tay-Sachs, not to mention how he or she would genetically break down the facts in order to help explain to the couple about how the recessive gene on the paternal side needs to be available for both parents to be carriers. The doctor would probably talk about the main effects of the illness on the child and what kind of treatment would be needed. The chaplain would be available for moral support. 2. Teaching Plan For the Trosacks’ Initial a. Genetic Diagnosis The diagnosis of Tay-Sachs is, fortunately, one clear-cut fact. According to NINDS Tay-Sachs Disease Information Page (2011), “Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. [Given these circumstances, usually] there is a 25 percent chance…that [their] child will be affected with Tay-Sachs…” (pgh. 2). b. Treatment The treatment of Tay-Sachs is probably going to be aggressive in nature. In addition to being put on anticonvulsants, the child would also have to be on drugs that would slow dementia, as well as a drug that would slow muscle deterioration. The child would probably have to take several medications simultaneously to treat his or her various medical conditions associated with Tay-Sachs. The Prognosis of Tay-Sachs The child may have several problems, including becoming blind, deaf, and ultimately unable to swallow. In addition, several other problems that could occur include dementia and paralysis, and also epilepsy. Muscle deterioration would also occur. So, the parents would have to take into consideration that their child would probably be mentally and physically disabled, and most likely would die by the tender age of four years old. c. Support Groups/Referrals Support groups might be recommended to the Trosacks, especially particular small groups that are facing challenges with taking a pregnancy to full-term when the mother knows that she is carrying a child that has a genetic disorder. In addition, the Trosacks might be referred to counselors who specialize in helping copules. The geneticist probably knows people in the medical community who specialize in counseling people on these sorts of topics. Obviously, this is a very difficult time for the Trosacks upon having learned this information, so the best thing that can be done now is to make an informed choice as to whether they should proceed with the pregnancy—a difficult choice to make indeed, but it must be decided before the pregnancy proceeds further. This is because, later on down the line, it’s going to be more difficult to abort the fetus the further along the mother is in the pregnancy. d. Pregnancy Information In order to make an informed decision about this pregnancy, the nurse will want to ensure that he or she does everything in order to give this couple the support that they need at this difficult time. Of course, at any point, it is difficult to hear that one’s child is sick. But, in the case of Tay-Sachs disease, knowing that one’s child will suffer much must be a horrible realization for the parents. At that point, it is really the decision of the couple in order to continue with the pregnancy or not, based upon what information the nurse, the doctor, the geneticist, and the chaplain provide to them at the point at which they come for their initial visit. II. Ethical Implications in Revealing Personal Genetic Information a. There are several implications in revealing personal genetic information, one of which that has been duly noted in the literature is the discrimination that people suffer when other people find out that an individual suffers from some sort of genetic disorder. It has been proven that people have been discriminated against in terms o falso receiving health insurance due to the fact that they are sick. Revealing personal genetic information can not only put one individual at risk, but also other relatives of the same person—because insurance companies might begin to automatically make associations or judgments of others based upon who they are related to and so forth. What is troubling is that much of this discrimination by insurance companies is entirely legal, many times. Insurance companies don’t have to insure anyone they don’t want to, and, as a result, it makes sense for doctors, nurses, and all medical professionals involved in the consultation with the Trosacks to keep all their medical information completely confidential. After all, if the Trosacks can’t count on these people to be professional and keep their conversations confidential, they should find another team. That is why, when couples are interviewing their potential doctor or obstetrician-gynecologist, they should make sure that they are completely comfortable with their choice of doctor in terms of making sure that their doctor(s) is/are completely professional—and that they feel their doctor(s) will keep all aspects of their consultations confidential. This has the most premier importance. B. Reflection Piece 1. Thoughts and Feelings About the Trosacks’ Choice Obviously, the fact that their child will be born with a disease that will eventually leave the child deaf, blind, and unable to swallow would be difficult for any couple to manage. However, they must make the decision whether they feel like they can either: a) live with the fact that their child has disabilities; or b) terminate their child’s life early for its own sake. 2. How to Handle the Couples’ Decision, Regardless Whatever choice the Trosacks make is the right choice for them as a family. However they decide, their choice will not be wrong. 3. One Ethical and One Legal Consideration in Continuing the Pregnancy Ethically speaking, it seems very morally questionable to allow a child to live when one knows the quality of life will not be very good. According to Friesen (1997), “Prenatal testing is probably the most controversial type of diagnosis because of the abortion issue. When do we draw the line on abnormalities? Is it ethical for parents to abort a child because the child will have Tay-Sachs disease…?” (pghs. 11-12). Legally speaking, it is possible for the mother to abort the child based upon fetal abnormality. According to Trupin (2012), “[Babies with] fetal anomalies when pregnancy outcome is likely to be birth of a child with significant mental or physical defects…are…considered [for elective abortion]…the suggested causes of fetal anomalies being [genetic from 20-25% of the time]. Current management…centers around prompt diagnosis and uterine evacuation, particularly in the second trimester” (pghs. 47-49). REFERENCES Friesen, T. (1997). The genetic testing controversy. Available: . NINDS (National Institute of Neurological Disorders and Stroke) Tay-Sachs disease information page. (2011). Available: . Trupin, S.R. (2012). Elective abortion. Available: . Read More