Genetic Case Study: Tay Sachs Disease

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INTRODUCTION

Peter and Rita are expecting a baby who unfortunately had been diagnosed with Tay Sachs Disease. Knowing that the disease is incurable and would lead to a definite death, the couple opts not to consider abortion due to legal, personal and spiritual purposes. A medical team is then formulated to oversee the cause of the disease since Peter and Rita are in disbelief of how their baby acquired the disease. A plan to educate Peter’s and Rita’s families is formulated to help them understand the causes, diagnosis, management, and the pregnancy of Rita with the baby suffering from the condition.

ANALYSIS OF THE CASE STUDY

Interdisciplinary team

To undertake the task of finding how the Trosack’s baby acquired Tay Sachs, an interdisciplinary team to facilitate the finding is created. The team includes a gynecologist, an obstetrician, endocrinologist and a pediatrician. A number of underlying reasons in the choosing of the team’s members is in place. The reasons for the choosing of each and every member of the interdisciplinary team are explained below:

Gynecologist: The choosing of a gynecologist results from the fact that the study deals with a case of a pregnant woman. Besides the pregnancy women need gynecologist to determine their health and make note of nay unpleasant changes. For the case of Rita the gynecologist would be responsible for detailing all the changes that would be associated with the pregnancy. Also to add to that he/she will be responsible for forming a chart will be tracking the physical changes to the body of Rita as well as recording the changes that would be brought about by the pregnancy both inside and around the reproductive system.

Obstetrician: management of pregnancy, labor and birth of a child are done by the obstetrician (Walker, 2007). The interdisciplinary team requires obstetrician to provide the services and keep the tracts of the pregnancy as the study on the Trosack’s still continues. In case of complications on the pregnancy, either as a result of the already diagnosed case of the baby or from any other causes such as fatigue stress and prenatal complications the obstetrician would be responsible for keeping the team on the alert and in aid of suggesting the most appropriate course of action.

Endocrinologist: Hormones are widely classified; the case of Trosack’s is associated in this by the fact that Tay Sach’s Disease develops as a result hexosaminidase A activity (Walker 2007). Production of hormones responsible for fighting the advances of the Tay Sachs Disease would be examined by the endocrinologist thus providing the group with a detailed profiling of the hormonal changes with concerns to the baby.

Pediatrician: Management of the Tay Sachs Disease for a baby from the day of birth to early adulthood requires the attention of a pediatrician. The choice of a pediatrician to be included in the team would be to provide a health plan for the baby once born observing the precautionary measures that would be associated with managing the disease.

Information Expected From Each of the Interdisciplinary Team Members

Information about the health status of the mother that may show presence of viral infections, abnormalities of discharges if any, and any bacteria activity of Rita’s reproductive system would be expected in a detailed format from the Gynecologist.

As much the disease and the threat of pregnancy complications are concerned, an Obstetrician would be expected to provide the information regarding the development of the fetus and providing a chart that would be reporting on the progress of the pregnancy. Some of the detailed that would be the most important would be weekly and monthly physical development of the baby and a flow chart on weight changes to the mother.

Also playing an extended role of a physician, Endocrinologist would be expected to give detailed information on the progress of hormone production for both the baby and the mother. The baby as we know, production of enzymes needed in the blood stream will be declining with age as the baby grows. The Endocrinologist would be expected to give the information regarding the decline progress and the necessary course of action in managing the trend.

Pediatrician would be expected to give a logical detailed information on how the baby would cared for once he/she is born. The management of the disease and the physical changes that would be following should be addressed in his/her information. The information would be like a manual on how to treat the baby once he/she is born.

TEACHING PLAN

Genetic Diagnosis

Diagnosis of genes and determining if a child is a career involves information from both parents on whether they could be carriers of the Tay Sachs Disease. This is done by a blood test is carried out to determine the presence of hexosaminidase A activity. If this turns out positively, a thorough physical examination is undertaken alongside a detailed family history of hereditary disorders connected with Tay Sachs Disease.

For the unborn and in the distinguishing of whether family members are carriers, a blood test is performed to determine hexosaminidase A activity. This can be performed for both the baby and the biological parents to assess if the baby is infected and if the parents are carriers of the disease. A blood sample could be used in the determination of genetic mutations in DNA testing that may be responsible for hexosaminidase A deficiency.

On this case, it has been found that both of you, Trosacks are positive carriers of Tay Sachs Disease and given the circumstances the expected baby is infected with the disease. Based on probability, a child whose parents are carries of Tay Sachs Disease is only 75% free from contracting the infection; 25% are chances that a baby would be born with Tay Sachs upon which in this case it happened to be positive for the your case.

Treatment

Enzyme replacement therapy

Like insulin injections used to add insulin to the blood stream, enzymes can be injected in the body as a measure to treat Tay Sachs Disease by replacing the missing enzymes (Hoffee, 2004: pp. 115). Due to the large size of the enzymes, being injected into the blood stream has seen this option of treatment unsuccessful in that the enzymes are unable to travel through the blood stream and into the brain. It has been tried by researchers to instill the enzymes into cerebrospinal fluid, which is responsible to cleaning the brain. Neuron could not take up the large enzyme effectively thus rendering the treatment ineffective.

Gene therapy

Theoretically, if all the defective genes can be replaced entirely throughout the brain, Tay Sachs Disease would be cured. As a technique to treat genetic diseases, use of viral vector to introduce new genetic material into cells as been considered an option but generally the technology to either of the above has not been realized yet.

Hematopoietic stem cell therapy (HSCT) is gene therapy form that uses the non-differentiated cells to put them in specialized functions. The stem cell technique has been effective with other diseases like the Krabb%u0117 Disease but hasn’t shown effective results on Tay Sachs. (Potter, 2003: 102)

Substrate reduction therapy

The brain catabolism of GM2 gangliosides can be increased by the use of alternative enzymes to boost RDA (Residual Degradative activity) for the prevention of accumulating substrate. It is demonstrated in experiments that by the use of sialidase enzyme, bypassing genetic defects can be achieved successfully and GM2 gangliosides would be metabolized to be negligible.

PROGNOSIS AS IT APPLIES TO TAY-SACHS

Almost all cases of Tay Sachs that has been diagnosed before birth have the highest probability that from the day of birth the longest a child would live would be about four (4) years. This however is according to the most common cases; some may take shorter or longer than that to reach the time of their death concerning the lack or presence of other ailments. Blindness has been associated with Tay Sachs as a dire condition in the progressive advancement of the disease. Before the time of death, four years from birth, it is most like that the child would develop difficult in swallowing, physical impairment and mental deadlock.

SUPPORT GROUPS AND APPROPRIATE REFERRALS

It would be advisable for you Trosacks to consult the professional help of The University of Tennessee Medical Center. This medical centre is recommended because of their service of treatment to all people inspite of their race, color, religion, disability or age. Others that can be sought include support groups that include Carrying to Term, National Organization for Rare Disorders, Genetic Alliance and Cystic Fibrosis Foundation.

PREGNANCY INFORMATION

It’s July 19th, 2008 which calculates to three (3) months of the pregnancy. Besides the diagnosis of the Tay Sachs on the baby, everything else is in good shape, the growth of the baby is considered normal. The estimated date of delivery calculated from the time of the last menstrual period is supposed to be 27th January 2009. As for the mother as of today, weight and other factors that may affect pregnancies like smoking and drinking do not appear to be present so the pregnancy is preferably perfect as of now

Ethical Implications Regarding the Availability of Personal Genetic Information

Fear of starting families: it is not in all cases that there would be a carrier between every couple that is planning to have children. However, the availability of personal genetic information on a case that results to positive gene carrier of a certain disease, the involved parties would be incapable to deciding effectively if they would risk trying to have babies. Like in the case of Tay Sachs, it is known that the chance of a baby acquiring an infection is 25% and 50% becoming a carrier (Hoffee, 2004: pp. 115). The remaining percentage goes that there is a probability that a baby will neither be a carrier nor infected. The information of this nature to aspiring parents can be of negative ethical implication I that they may decide to separate in order to be with other people who do not carry the genes. If that is not the case, a couple may make up its mind in doing away with the option of ever having babies.

Luck experimentation: A couple whose genetic information is available and depicting that they both are carriers of the genes that may result into a certain disease, may result to a trial and error experimentation that could be ethically wrong and legally unacceptable. Take an example where the couple has discovered that the baby they are expecting is infected with the disease, let’s take Tay Sachs for instance, they may result to aborting the baby to try again within the probability range of 75% of getting uninfected baby. If the experiment and their randomness do not bear fruits for the second trial, will abortion and risking the life of the woman during the abortions be the only activity to go by? The implication of genetic information would be ethically affecting the morals of the couple, their families, and the society as a whole for spiritual, legal and logical factors would be violated.

Low self esteem: Women have the motherly instincts that drive their passion to having babies or at least being able to care for a baby. With genetic information especially the one that outlines presence of genes of a certain disease, it can impact the woman negatively in that it would drive the self esteem of the person low. This in return could lead to decisions that would affect their lives negatively. Some of these decisions would be to never have children for fear that they may develop complications in their lives.

Healthy living: Presence and lack of disease causing genes for a couple would be a helping factor in that when making decisions of settling down to form a family with bearing of babies an element of the efforts; information that outline the genetic status of each party would be of positive implication both ethically and in aiding to make the decisions. (Andrews, 1994). A couple that has the genetic information indicating they are free of any disease causing genes would eliminate the fear that they may be taking chances by planning to have a baby. On the other hand, a couple that is already aware of that they are carrier of certain genes would make decisions that will not put any life at risk.

REFLECTION PAPER

Allow Natural Death (AND) is the ultimate decision that the Trosack’s chose. It is difficult to imagine the repercussion of their decision regarding the life of the baby once it is born. As much as the Trosack’s are tied down by their beliefs, choosing to bring a child into the world to watch as it deteriorates and dies is not quite a wise decision. On the other hand if they had chosen to abort the baby, besides the considerations and number of options, it would have been wrong to a certain class of thought. The conscious minds of the Trosack’s would not live with the facts and the act they would have committed.

For the case at hand, my personal thought on the issue is that, the Trosack’s are held within a dilemma situation. To end the life of the baby they mostly had been waiting for or to get along with the pregnancy and let the baby die naturally. The fact that they decided to keep the pregnancy, is a show of humanity, since they are not responsible of giving life to the baby, they do not have the authority to take away its life. 'Everybody has a right to live', that is what the law says in most states. With this in mind despite the nature of circumstances, one would avoid breaking the law by taking roles they have no control of.

My feelings for the Trosack’s decision are mostly concerning the baby. The Trosack’s granted the baby the right to live till delivery; the baby is diagnosed with Tay Sachs Disease which happens to have no cure. The pain the baby will go through from the day he/she is delivered to the day he/she dies (up to 4years), would be great. Every day at the Trosack’s home would another day of tears, as they watch their kid loosing physical ability, mental ability, going blind, unable to swallow food and lastly dying in their arms. It's said that if you witness immense suffering on an animal, you should relief it from the pain (Potter, 2003). In a case of human being, how does this apply? For Trosack’s to live through with this, they would need psychological preparation to be able to pull through the difficulties. (Potter, 2003: 102)

ADVOCATING FOR THE TROSACK’S DECISION

Given the circumstances that the Trosacks have been through trying and retrying their luck in having a baby, this is the only chance that they have seen since they started the course. I do support and advocate for their decision given that the choices are limited to only two; aborting and keeping the baby. With faith everything is possible and the thought of abortion despite the implication it has to the society is also prohibited in the state of Chicago. The Trosack’s have all the rights to be happy and protect their religious beliefs in this case.

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