The Unborn Child's Genetic Disorder - Essay Example

?Running Head: GENETIC DISORDER Helping the Helping the Trosachs face Tay-Sachs in their Unborn Child Helping the Trosachs face Tay-Sachs in their Unborn Child Introduction The news of pregnancy is usually a happy and wondrous time, especially for a couple who has been waiting a very long time for pregnancy to occur. For the Trosacks, however, the diagnosis of Tay-Sachs in their unborn child most likely means a painful life for the child with death coming in a very short time. As their Catholic heritage means that abortion is not an option, they are now faced with dealing with the pain and suffering of their child who will enter the world disadvantaged and live within it for only a short time. The parents are currently in confusion and denial. As a nurse handling the coordination of their plans for handling the care of this yet unborn child, it will be important to give clear advice and instructions in order to facilitate the best possible outcomes in a very difficult prognosis. The Interdisciplinary Team Because of the complexity of the situation with the Trosacks, it is important that an interdisciplinary team be constructed to fulfill all the needs that they will have as they progress through the pregnancy, and then into dealing with the issues that their infant will present. Ideally, a therapist who has special knowledge of special needs children and the issues their parents face would be the most beneficial. Starting before the child is born will help them to emotionally prepare for the circumstance of their child having Tay-Sachs. Establishing the relationship with the therapist will begin their journey and in addition the services of a priest who is in touch with the family during the course of their child’s life may provide a source of comfort as they proceed through the experience. According to Desnicck and Kaback (2001), parents of children with Tay-Sachs experience the death of their child three times. The first time is when the condition is diagnosed as they begin to realize that death will come in short time to their child. The second time when they come to a realization that the nursing needs of their child is beyond their capacity. And the third time when the child succumbs to death. Care for the Trosachs will need to be interconnected through mental health and community support, in addition to the medical interdisciplinary team. A well designed interdisciplinary team will help the Trosacks to manage the care of their child. The medical personnel that will be vital for the wellbeing of the mother and child are as follows: a nutritionist, a family physician, a pediatrician, a medical geneticist, and a visiting nurse. The nutritionist will be vital in creating an eating plan that minimizes the need for the enzyme, creating an extension of life through the best possible food intake that can provide for the body to function at the best possible level. A medical geneticist will be the clinician who initially confirms the diagnosis of the Tay-Sachs disease. The medical geneticist will assist in providing methods of managing the illness, who will measure the hexosaminidase activity which occurs in the white blood cells and in the plasma (Orshan, 2008). While there is no cure or real treatment for the condition, there are several care management methods that can help to alleviate some of the symptoms of the disease (Ricci & Kyle, 2009). The medical geneticist will work with the pediatrician in creating substantive care for the infant into early toddler age during the time before the child may need to be put into a full-time care facility. A visiting nurse will help to ensure that a continuation of the care that is needed is attending, monitoring the child’s progress, and making recommendations to the parents and the team in order to coordinate care. A key part of the team will be the family physician that will be charged with caring for the parents, making sure that they are managed for stress induced symptoms, depression if needed, and with his or her knowledge of the family situation, making sure the parents are kept in good health through regular intervention. The nurse will also make observations and recommendations from her meetings with the parents on their management of their own physical condition in relationship to the stress of managing the care of their child. Teaching Plan Mrs. Trosack’s pregnancy should progress with the attention of her obstetrician on a normal course as the disease will not affect her pregnancy. Proper nutrition is important and good prenatal care is essential. There is a wide variety of knowledge that can be provided to the Trosacks so that they can manage their future with the best possible advantages that are available to them in relationship with what is known about Tay-Sachs and communities that service those who are affected by the disease. The only real weapon that the Trosacks have in managing the course of their life is information. Tay-Sachs The first thing that will be important for the Trosachs to have in their arsenal is written literature that will serve to remind them of the specific details of the illness. Websites, printed material, and the medical information from the doctor should be put into a package for the parents so that they have a reference file to help them grasp the nature of the illness while having resources to answer questions and find communities. This file will serve as the cornerstone of the teaching plan for the Trosachs as it is often the case that people will forget their interactions because of the stress and shock of trying to discuss such a terrible diagnosis. The first piece of information that will be vital for the Trosachs is a clear definition of the disease and how it will affect their child. Tay-Sachs is an “incurable, autosomal recessive metabolic disease” that creates a deficiency of the B-hexosaminidase enzyme (Orshan, 2008, p. 119). What occurs as a result of this deficiency is that the enzyme that normally breaks down the fatty substance GM2-ganglioside is largely absent, leaving a toxic build-up of the substance. As a result, there is a progressive break-down of mental and motor functions (Orshan, 2008). Initial symptoms that will appear in that first stage of about 4-6 months will be that the child is easily startled, will seem to be unaware of their surroundings, and will have vision difficulties due to weak eye muscles. By the age of two, their child will likely begin to lose physical skills such as crawling, walking, and sitting, with mental capacity diminishing. Seizures will likely begin to be a part of their medical condition at this stage. The child will continue to degenerate as he or she becomes blind, paralyzed, and eventually non-responsive to the world around them (Fraser, 2008). While this information is difficult to absorb for parents who love and would want to protect their child from any pain and suffering, knowing what to expect is vital in the early stages of this experience. In addition to the information that is given about the prognosis, in order to alleviate the speculation that the parents are making about the causes of the illness it is important for them to understand how the illness is transmitted. Tay-Sachs requires two carriers of the genetic illness to mate in order for a child to be born with the illness. The carriers have no illness or symptoms that are recognizable, although they can be tested to see if they are carriers through genetic testing. In certain ethnographies these tests are common because of the frequency of the condition being present. These ethnicities include Eastern European Ashkenazi Jewish people, French Canadians from Southern Quebec, and Southern Louisiana Cajuns (Desnick & Kaback, 2001). That the two Trosacks are both carriers of the illness will bring up a series of questions and self blame for the couple. Therapy from a well informed therapist and support from the family priest will help to provide a structure through which to survive the experience. The medical information that the Trosacks need to be made aware of from their history is that it is likely that the children who died early on both sides of the family likely passed from Tay-Sachs and that they are both responsible for carrying the disease and that they had no way to know that to be the case as they do not either one of them come from an ethnic heritage that is typically at risk. While the disease was recognized in the late 19th century, testing for the gene was not found until the late 20th century (Desnick & Kaback, 2001). Their grandparents would not have been able to do much about the deaths of their children and the diagnosis of the illness may not have been possible due to limited medical resources. Treatment It needs to be made clear to the Trosacks that there is no known treatment or cure for the illness that their child is facing. This is not good news and managing the way in which that news is absorbed will be defining for how the Trosacks approach the experience (Reynolds & Janzen, 2007). One of the problems that will arise from the disease is a decreased ability to swallow. Knowing what foods are good and which ones are negative to the symptoms of the disease will be the first avenue of defense against the effects of the illness. In addition, knowing how to properly keep the child hydrate will be knowledge that will increase the general health of the child. The eventuality that will likely occur is that the child will need a feeding tube (Desnick & Kaback, 2001). Issues from the disease must be individually addressed for managing symptoms. Medications will be determined in order to address the issue of seizures. There may come a time in which breathing assistance is needed, so the parents must be prepared for that moment and listen carefully to their care management team in order to recognize as the health of their child turns. As mentioned, assisted feeding may be necessary as swallowing becomes difficult. Physical therapy may be necessary, and an added member to the interdisciplinary team to facilitate that need, as the nerves and muscles begin to be affected by the disease will likely provide for a need for intervention (Wellness.com, 2012). Some of the hope that can be cautiously given to the Trosacks is by outlining some of the methods of treatment that are being investigated currently in relationship to Trosacks. While there is still investigation into enzyme replacement therapy, the delivery system is still under investigation and this avenue has yet to be established as a viable form of therapy. Substrate Reduction Therapy (SRT) is aimed at reducing the amount of GM2 gangliosides. There is a drug currently in trials that might help to reduce the GM2 gangliosides, which will provide for slowing down of the progression of symptoms. The drug is miglustat which will is put under the brand name of Zavesca and should be watched for approval. Experimental reproduction of the HEXA gene is also under investigation for its use (Wellness.com, 2012). Recommended Organizations One of the first organizations that would be recommended to the Trosacks is the National Tay-Sachs & Allied Diseases organization which is located at the website http://www.ntsad.org/. The March of Dimes also has support for parents of children with Tay-Sachs. The Genetic Alliance and the National Organization of Rare Disorders (NORD) can also provide guidance for the Trosacks. While they are not Jewish, the Chicago Center for Jewish Genetic Disorders can help to find groups for parents of children with Tay-Sachs. Ethical Considerations for Genetic Information The right to privacy comes in conflict with the hope of eliminating different genetic illnesses from human experience. One of the efforts within the Jewish community to eliminate Tay-Sachs is to genetically test all members to that matches made between those who are carriers are reduced (Frasier, 2008). Although this is voluntary, the idea of reporting genetic carriers of different disorders might seem prudent so that people can form relationships based on being informed. This would mean, however, that the information could also be used to discriminate against those who carry undesirable potentials within their genetic design. Companies could use public information in order to hire those with the least number of potentials for having problems that could cost the company in insurance and time lost through illness. Disclosure of genetic information on a public level has its advantages, but also has a high potential of being abused by non-medical entities. Another reason not to publicize genetic information is that it can create classes of people through which general discrimination can occur. Through the knowledge of having or not having certain genetic markers, classifications that are as arbitrary as race could emerge through which advantaged classes and disadvantages classes could be created. A whole new world of discrimination could emerge through which division and social stratification could be the result (Rehmann-Sutter, C., & Mu?ller, H., 2009). The possibility of severe social consequences could come to pass should genetic information about individuals become public knowledge. Designer children could also be the result of genetic information that is made public. Part of the mating process could be informed through the emergence of a system of public files for genetic information. Mating could be regulated, managed, and publically defined through a system that tries to support the birth of only perfectly healthy children. As much as it sounds like an advantage, it would also strip the ability for free choice as the knowledge of genetic information will redefine the idea of a good mate. Conclusion The Trosacks are in for a trying and difficult experience. Proper information on the disease will help them to handle what will come from the disease as it affects their child. The teaching plan will include information on the disease, the reality of how it occurred in their child, and how to develop a plan that will show recognition of what can be expected. Through the use of organizations that focus on Tay-Sachs, the couple can begin to work on accepting the eventualities while keeping apprised of the latest information. Although the diagnosis is frightening and begins an experience that will be difficult, the transition can be supported through good information and medical team support. References Desnick, R. J. & Kaback, M. M. (2001). Tay-Sachs disease. San Diego, CA: Academic Press. Fraser, V. J. (2008). Diseases and disorders. Tarrytown, N.Y: Marshall Cavendish. National Tay-Sachs &Allied Diseases. (2012) Retrieved from http://www.ntsad.org/ Orshan, S. A. (2008). Maternity, newborn, and women's health nursing: Comprehensive care across the lifespan. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. Rehmann-Sutter, C., & Mu?ller, H. (2009). Disclosure dilemmas: Ethics of genetic prognosis after the 'right to know/not to know' debate. Farnham, England: Ashgate Pub. Reynolds, C. & Janzen, E. (eds). (2007). Encyclopedia of special education: 3. New York: Wiley. Ricci, S. S., & Kyle, T. (2009). Maternity and pediatric nursing. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. Wellness.com (2012). Retrieved from http://www.wellness.com/reference/conditions/tay-sachs- disease/prevention-and-treatment Read More