Multidisciplinary Approach on Genetic Diseases: Tay-Sachs Disease - Case Study Example

Multidisciplinary Approach on Genetic Diseases: Tay-Sachs Disease I. Nature of Tay-Sachs Disease Tay-Sach Disease is a condition in which the neurons progressively degenerate. Fatty substances abnormally accumulate in neurons. Motor and sensory functions are thus affected by this disease. Its familial nature is demonstrated by the fact that this condition is common among the Eastern European Ashkenazi Jews (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). A. Etiology Genetic Mutations and Enzyme Defects Development of Tay-Sachs Disease is attributed to mutations on the HEXA gene, which codes for β-hexosaminidase A, the enzyme that breaks down GM2 ganglioside, which is normally degraded during the early brain development. Accumulation of this fatty substance causes the distention and eventual destruction of neurons (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). Pattern of Inheritance The pattern of inheritance of Tay-Sachs disease is autosomal recessive, in which case the individual should have both recessive alleles to manifest the symptoms of the disease. Moreover, because it is autosomal, the disease does not differentiate between sexes. An individual with Tay-Sachs disease is conceived if both parents are carriers (heterozygous) of the gene. It must be noted that homozygous recessive parents are not possible because individuals with Tay-Sachs disease, as elaborately discussed in the next section, are unable to do motor functions as basic as walking and swallowing. Carrier parents thus have a 25% chance of having a child with Tay-Sachs disease per conception. In addition, they have 50% chance of conceiving carriers, and 25% chance of having a child that do not have a recessive allele. Detection of symptomatic and supposedly homozygous recessive individuals may be determined in prenatal tests or by assaying β-hexosaminidase A activity. In the case of Rita and Peter, their family medical history presents a strong evidence of autosomal diseases in both families. Rita has a history of one uncle dying at an early age, and Peter had an uncle and an aunt who died at a young age. Although these past cases were undiagnosed, they were all probably Tay-Sachs disease. B. Symptomatology There are many forms of this disease, depending on what age the symptoms manifest. The signs and symptoms of the infantile form become initially apparent during infancy, specifically at age 3 to 6 months, wherein there is marked weakening of the muscles and protracted development by the inability to turn over, sit or crawl after an apparent normal development. In addition, they have an increased startle reaction to loud noises, which is one of the primitive reflexes of humans. As the disease progresses, other neural degenerative signs including seizures, intellectual disabilities and paralysis begin to manifest. As well, the sensorium is also affected. Individuals with Tay-Sachs disease become blind, deaf, and unable to swallow. These patients are prone to respiratory infection because they are unable to clear their throats of the accumulating bacteria-filled mucus. Babies with this form of the disease live only until their early childhood, 4 years at best. (http://www.nlm.nih.gov/medlineplus/taysachsdisease.html, 2011). Other forms, which become apparent at childhood, adolescence or adulthood, are milder compared to the infantile form. In these cases, the individual presents with muscle weakness, ataxia, speech problems, and progressively deteriorating intellectual capacity (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). II. Misconceptions The reactions of Rita and Peter were common among those receiving news about the poor prognosis of a family member’s health condition. Rita, wallowed with guilt, blames herself even if the disease is inherited. Peter, on the other hand, is in denial of his child’s condition. It is thus vital for the nurse-in-charge to empathize with the couple. Moreover, it is important to provide adequate information about the disease, so that these misconceptions can be easily corrected. Misconception usually occurs because of lack of information or misinformation about the disease. It is the role of healthcare providers, such as nurses, to correct whatever misconception the patient or his/her family may have. III. Management At present, there is still no treatment for Tay-Sachs disease. However, medical management may be given to control the symptoms associated with the disease. For example, anti-convulsants such as Magnesium Sulfate can be given to control seizures (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). In addition, relief of discomfort may be done. For example, certain techniques may be done to keep the airway open and clear of mucus. Also, regular feeding and hydration should still be provided through a feeding tube (http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm, 2007). Physical therapy may also be performed on the patient to delay shortening of muscles and joint stiffness because of the immobility (http://www.mayoclinic.org/tay-sachs-disease/treatment.html, 2011). IV. Role of Nurses A. Providing Information It is important that the abovementioned etiology of the disease be explained to them so that Rita will be relieved of the guilt. As well, to aid in their decision-making, the couple should also be informed of the things to expect, the symptomatology and prognosis, as well as the possible management they can do to alleviate the condition of their child. The capability of the couple to provide extra attention to the child, whether financial or otherwise, will weigh significantly on their decision of whether to keep the fetus to term or not (American Academy of Dermatology Ethics Committee, 2006). B. Maintaining Patient’s Autonomy Despite Rita and Peter’s condition is a clinical case, the relationship between a healthcare provider and his/her patient states that the all matter pertaining to the health of the patient should be kept private in between the HCP and the patient. If there are things that in the opinion of the HCP need to be disclosed to other people such as the patient’s family, it is only in the discretion of the patient to whom and when he or she will reveal details about his/her health condition (American Academy of Dermatology Ethics Committee, 2006). V. Principles Applicable to the Situation In deciding on the fate of fetuses with congenital abnormalities, whether it should be continued to term or be terminated at once, ethical and legal considerations are applied in most cases. Usually, the ethical principles of the members of the legislation affect the laws that are enacted regarding the abortion of fetuses with congenital anomaly. A. The Right to Live To choose whether to proceed with the pregnancy or to terminate life even before birth is indeed a pressing ethical issue. One of the principles applicable on this case is the right to life of the unborn child. Does knowing about its abnormal condition, or maybe even its unviability, give the parents a right to end their child’s life? The legal approach on whether the pregnancy is terminated is based upon the legal definition of the fetus. If the fetus lacks a legal and independent status, such that it is considered lifeless and as a mere equal to any of the mother’s organs, then no human rights should be accorded to it. In this case, its termination can be legally chosen by the mother herself. On the other hand, in which life is considered to begin even before delivery, the fetus is accorded with human rights, more importantly the right to life. B. Risks and Benefits In addition, the principle of balancing risks and benefits comes into play. If they choose to push through with the pregnancy, are they financially ready to take care of an infant with special needs? Is it right for them to spend so much on the baby that is going to die anyway? Aside from the finances, concern over Rita’s safety should be taken into consideration. Is it right to subject Rita to the further pains and discomfort of pregnancy and labor just to give birth to the baby who will deteriorate anyway? In United States, the law provides mothers, with the right to undergo abortion especially when the pregnancy threatens their health. The law further states that mothers in such cases can undergo abortion at any time during pregnancy (http://www.arcc-cdac.ca/postionpapers/54-US-Canada-Abortion-Law-Policy.pdf, 2006). No matter what the healthcare providers’ opinions are with regards to whether or not the baby should be kept, it is still the decision of Rita, as well as of Peter, whether to keep the baby or not. By virtue of autonomy, Rita has the right to decide for her health as well as her child. The only role of the healthcare provider is to provide information to the couple about their child’s condition. The United States provide women the right to abort fetuses only if they are still in first trimester. This may be based upon the consensus of life starting only after all the organs have formed. Understandably, a part of their population who believes that life starts immediately after fertilization is against this law. Indeed, legal and ethical conflicts will continue to occur unless the beginning of life in fetuses has been clearly established (http://www.arcc-cdac.ca/postionpapers/54-US-Canada-Abortion-Law-Policy.pdf). Disagreement on ethical and legal principles that guide or prevent abortion is clearly seen in comparing countries that fail to agree on their laws toward abortion. Unlike in the Americans, the Canadians’ strong hold on gender equality rights allows Canadian women to undergo abortion, anytime during the pregnancy, without any criminal liability (http://www.arcc-cdac.ca/postionpapers/54-US-Canada-Abortion-Law-Policy.pdf, 2006). Despite the lack of law criminalizing abortion, the rate of this procedure is remarkably low in Canada (http://www.arcc-cdac.ca/postionpapers/54-US-Canada-Abortion-Law-Policy.pdf, 2006). Thus, final decisions regarding the abortion of fetuses with congenital abnormalities is still dependent on the mother who will carry the baby to term, together with the husband who will also carry the financial and emotional constraints of raising a child with special needs. References Abortion Rights Coalition of Canada (2006). Abortion Law and Policy: Comparisons Between the U. S. and Canada. Retrieved from http://www.arcc-cdac.ca/postionpapers/54-US-Canada-Abortion-Law-Policy.pdf. American Academy of Dermatology (2006). Ethics in Medical Practice: With Special Reference to Dermatology. Retrieved from http://www.aad.org/Forms/Policies/Uploads/AR/COE%20Ethics%20in%20Medical%20Practice%20Booklet.pdf (2011). Tay-Sachs Disease. Retrieved from http://www.mayoclinic.org/tay-sachs-disease/treatment.html. (7 July 2011). Tay-Sachs Disease. Retrieved from http://www.nlm.nih.gov/medlineplus/taysachsdisease.html. (14 February 2007). NINDS Tay-Sachs Disease Information Page. Retrieved from http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm. Read More