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The purpose of this essay is to integrate genetic information in the Trosack case to ensure that the patients can deal with the genetic basis of the disease in their child. The appropriate members who can be included in an interdisciplinary team to gain more information on Trosack’s case include Dr. Zimmerly, Rita Trosack’s physician, Rita’s father, and Peter’s father. Dr. Zimmerly is suitable for the interdisciplinary team as he has the relevant knowledge and expertise to deal with advanced cases of maternity.
He is also well informed on Rita Trosack’s case as he organized for her chorionic villus sampling (CVS) test which would determine whether the baby has a genetic disorder. Dr. Zimmerly is also a suitable candidate for the interdisciplinary committee as he has prescribed prenatal vitamins for Rita which she is taking to manage her pregnancy until her due date.
The physician has also provided Rita and Peter with nutritional information and exercise which she can do during her pregnancy. He has also informed a couple of the basic warning signs that might signal any health problems to both of them. Rita’s father will be a suitable candidate for the study because his parents had two sons one of whom died at an early age of unknown causes. Rita’s father will be able to provide important historical information based on what his parents told him of his brother’s death. The circumstances surrounding the death will be important in determining whether the boy died of genetic circumstances or other causes.
Peter’s father will also be a suitable candidate for information as his parents had three children including him; two of whom (a boy and a girl) died of unknown causes. These unknown causal factors might be assessed by the team to determine whether they are genetically caused or there are other contributory factors to their deaths. These three people will be important in providing genetic information to determine whether Rita and Peter Trosack have the Tay-Sachs gene.
The type of information that will be collected from the three individuals will include family histories and evidence of whether the family has an autosomal gene that causes Tay-Sachs, medical information that exists on the deaths of the three children, whether Rita and Peter are Tay-Sachs carriers and how long the disease takes to materialize in the body of the carrier.
Once the people who will be involved in the interdisciplinary team for Trosack’s case have been identified and the relevant information has been collected from the three candidates, the next stage will involve a genetic diagnosis of the disease in both parents of the child. Tay-Sachs is a recessive genetic disorder that causes a relentless deterioration in the mental and physical ability of the sufferer. The disease is caused by a mutation in a single gene carried by the parents which are caused by large amounts of gangliosides that accumulate within the nerve cells of the body. These gangliosides eventually lead to the death of these cells causing cognitive, motor, and speech difficulties in the child as their mental and physical abilities continue to deteriorate as the disease progresses (Moe & Benke, 2005).
The genetics aspect of the disease has established that Tay-Sachs is a genetic disorder caused by a recessive autosomal gene where parents who have the disease-causing gene increase the chances of having a child with Tay-Sachs. Autosomal genes exist in every human being and any mutations that exist in this gene are passed on to the child. To determine whether parents are carrying a mutation in the autosomal gene, the Mendelian ratio is used to determine whether there is a 25% chance of the child suffering from Tay-Sachs. In the genetic diagnosis of the disease, physicians normally use an ophthalmoscope to detect the presence of macula which is a common symptom of the disease (Moe & Benke, 2005).
The macula is characterized by a red spot in the retinal area of the eye which occurs because of the accumulation of gangliosides in the sufferer’s brain. The red spot is the only normal part of the retina that can be observed by ophthalmologists to determine whether a child suffers from Tay-Sachs. Other techniques that can be used in the genetic diagnosis of the disease include microscopic analysis of the body’s neural network and molecular diagnostic techniques that analyze autosomal genes in the carrier’s body (Neudorfer et al, 2005).
Therefore, to evaluate the disease in the case of the Trosack’s, a complete physical examination of both Rita and Peter will need to be conducted through the Mendelian Ratio after which a detailed history of symptoms and hereditary disorders will be gained from any information provided by Rita’s father and Peter’s father. Another technique that can be used to determine whether the Trosack’s are carriers of the Tay-Sachs gene includes conducting a blood test which will measure the amount of hexosaminidase A (Hex A) activity in their blood (Moe & Benke, 2005).
The medical treatment of Tay-Sachs is usually directed towards supporting and comforting patients suffering from the disease as there is no cure. The goal of Tay-Sachs medication is to make patients as comfortable as possible as they progress through the various stages of the disease. One type of treatment that can be used to treat the disorder in young children involves providing respiratory therapy which is meant to deal with the accumulation of mucus in the child’s lungs. Chest physiotherapy (CPT) is usually used to reduce the amount of mucus in the lungs making it easy for people suffering from the disorder to breathe.
During the progressive stages of the disease, eating or swallowing becomes a major problem for most children who suffer from respiratory problems. To assist in the swallowing of food, feeding devices such as nasogastric tubes and percutaneous esophagi tubes are used to place food directly in the abdomen of the affected child. Another treatment option that can be used to treat children with Tay-Sachs includes the use of medications that control pain, seizures, and muscle spasms in Tay-Sachs patients (Walker, 2009).
The most common technique of dealing with Tay-Sachs is the prevention of the disease which is only possible by conducting screening or prognosis. The types of screening that are usually done to determine whether the parents of the child are carriers of Tay-Sachs include carrier testing and prenatal testing. Carrier testing is usually performed on couples from high-risk populations who are aware of the existence of a genetic disease or disorder from either their ancestors or their living relatives (Walker, 2009). In the case of Rita and Peter carrier testing is a suitable option given that they have limited information of whether their parents or ancestors have the Tay-Sachs gene.
Prenatal screening tests are most suitable for couples who have information on their family history and the genetic mutations that might exist in the family which might eventually lead to Tay-Sachs. This form of screening is usually performed when both parents cannot be ruled out for being carriers of Tay-Sachs genes. Some cases of prenatal testing usually find either of the parents becoming aware of their status which enables the physician to rule out the possible carriers of the disease. The most commonly used methods in the prenatal screening of the disorder are the enzyme assay techniques which detect the level of activities in the HEX A (hexosaminidase) enzyme within the body as well as conducting a chorionic villus sampling (CVS) procedure (Walker, 2009).
When prenatal screening is conducted with genetic testing, the possibility of determining whether the child has Tay-Sachs is usually high. Parents are faced with the choice of terminating the pregnancy (abortion) or giving birth to a child that will suffer from Tay-Sachs (Jameson, 1998). This decision is complicated further as there is no cure or treatment for the disease. The only assistance that children suffering from the disorder can be able to receive is medication and therapy that will ease the symptoms of the disease. Support groups begin to play an important part in helping Tay-Sachs parents deal with the effects of the disease on their children.
For Rita and Peter Trosack’s case, a support group that includes parents who have children suffering from Tay-Sachs would be important in helping them to deal with the feelings of denial, guilt, and anger especially now that they have decided to proceed with the pregnancy because of their religious and personal convictions. Support groups for Tay-Sachs will provide much-needed support to the two parents so that they can be able to accept the situation and also know how to deal with their child once he/she is born.
Parents with children suffering from Tay-Sachs are the best placed to provide guidance and support on how to manage the symptoms of the disease. Rita and Peter should therefore join a support group to enable them to prepare for the birth of their child. The pregnancy information that Dr. Zimmerly should provide the Trosack’s with includes the management of the pregnancy during the remaining months, what to expect during the pregnancy, how to prepare for the birth of their child, what nutritional foods Rita needs to eat as well as medication to manage the health of the child as well as birthing techniques that will minimize any further deterioration of the child’s health.
The ethical implications that exist on genetic information to determine whether the child suffers from Tay-Sachs include the risk of terminating the pregnancy, the risk of carrying the pregnancy to term, and the risk of terminating or carrying the pregnancy without sufficient genetic information.
The first ethical implication of terminating the pregnancy is usually based on the amount of genetic information that has been presented to the parents with regards to whether they are carriers of the disease or not. While terminating the pregnancy might seem to be the easiest option, it is usually difficult for most parents and individuals who value life no matter how small it is. The ethical implication in such a case, therefore, becomes availing genetic information that will more than likely increase the risk of terminating the pregnancy (Jameson, 1998).
The second ethical implication bears a lot of psychological, emotional, and financial burden to the parents once they decide to carry the pregnancy to term. Managing the symptoms of the disease will prove to be an uphill task for both parents given that the disease immobilizes the child and causes them to have seizures which affect their cognitive abilities. Raising a child with psychological impairments might prove to be psychologically damaging to the parents especially during the advanced stages of the disease. The ethical implication of availing genetic information in such a situation influences the decision of parents who do not want to terminate the pregnancy.
In the third option, insufficiency of genetic information might affect the outcome of parents who have decided to either raise or abort their child. In some cases, if one parent is a carrier, they might decide to terminate the pregnancy regardless of whether the other parent is a couple or not. This might prove to be a harmful decision when conclusive tests reveal that the child does not have the disorder. The availability of genetic information, therefore, has ethical an implication on whether the parents of the child will go through or terminate the pregnancy. Genetic information forms the framework for Tay-Sachs and pregnancy information which will be vital in making the overall decision with regards to the pregnancy (Jameson, 1998).
Rita and Peter have both decided to keep the baby as they have strong religious and personal beliefs which have made it difficult for them to consider abortion as an option. Their decision means that they will carry the pregnancy to term after which they will manage the symptoms of the disease as it continues to progress to the more advanced stages until the child eventually succumbs to the illness. Rita and Peter’s decision to raise the child will be psychologically traumatizing to them as they will get to raise the child for the first three to four years of their life. Their decision is mostly based on the emotional need to raise a child given that they have been trying to conceive for two years.
While the easier option would be to abort or terminate the pregnancy, the overall need to bring life into the world as well as their personal and religious beliefs has formed the overall basis of Trosack’s decision. Despite the limited amount of time the couple will have their child given that the disease kills infants during their early childhood, they will at least have given the child a lease of life no matter how limited it is. Medical practitioners and physicians see the option of termination to be an easier outcome because there is no cure for the disease. The overall decision however lies with the parents of the affected child.
As the case manager for the Trosack’s as well as a high-risk obstetric nurse, the most practical solution would be to terminate the pregnancy as the health of the child will gradually deteriorate with the progressive destruction of the central nervous system leading to cognitive, mental, and physical problems. The impact of the disorder on the child might cause them to suffer from paralysis, blindness, and a lack of motor abilities making it difficult for the child to move. With such options and the lack of a cure, the most viable alternative becomes to discontinue the pregnancy. While screening programs such as the CVS have reduced the incidence of the disease, termination of the pregnancy has been identified as the most suitable solution (Tulchinsky & Varavikova, 2009).
In considering Rita and Peter’s decision to keep the pregnancy, the case manager has to place the couple’s interests first before any medical knowledge that they might have on how to manage the disease. This will require exercising beneficence where the health and welfare of the Trosacks will be taken into consideration by the doctors and physicians concerned with their case. The case manager, therefore, has to advocate for the couple’s decision to Dr. Zimmerly and other physicians involved in Trosack’s case to make them understand that the couple intends to carry the pregnancy to term as well as raise the child. However, Rita and Peter’s decision will be plagued with both ethical and legal considerations where ethically they will raise a child that has a disorder that lacks any curative therapy (Jameson, 1998).
The ethical considerations for such a decision will affect the couple where they will be unable to reduce the pain and suffering of their child which can only be achieved by reducing the incidence of the disorder and terminating the pregnancy. The legal considerations that will arise as a result of their decision will mostly increase their liability to health risks once more screening tests are performed during the pregnancy. Such tests might further exacerbate the health of the child as well as that of the mother as they await the due date. Legal considerations will therefore arise when offering screening without any established methods of counseling, education, and communication which might inappropriately influence the moral decision of the parents (Jameson, 1998).
References
Jameson, J.L., (1998). Principles of molecular medicine. New Jersey: Humana Press.
Moe, P.G., & Benke, T.A., (2005). Neurologic and muscular disorders: current pediatric diagnosis and treatment. New York: McGraw Hill.
Neudorfer, O., Pastores, G.M., Zeng, B.J., Gianutsos, J., Zaroff, C.M., & Kolodny, E.H., (2005). Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genetics in Medicine, 7(2), 119-123.
Tulchinsky, T.H., & Varavikova, E., (2009). The new public health. Massachusetts: Elsevier Academic Press.
Walker, J., (2007). Tay-Sachs disease. New York: The Rosen Publishing Group.
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