What Genetic Is

When people die of unknown diseases, people often do not have the time to take post mortem.  As a result, they lack the information of what killed the person. In this case, they fail to know whether the disease is genetic or not. For instance, in the case Trosack family, there are many untold stories about their health. Therefore, in this essay, the health issue of Trosack family is analyzed deeply with in relation to their knowledge about genetics and the Tay - Sachs disease.


Trosack family, Rita and the husband Peter, have been trying to get a baby for some time, but recently Rita became pregnant. As a result, Rita is attending prenatal clinics for the safety of her and the baby. The doctor has conducted some test, and he or she has found out that the fetus is being affected by Tay - Sachs disease. Tay-sach disease is a rare hereditary disease that progressively destroys the nerve cells of the brain and the spinal cord (Schapira & Byrne, 2007). This is an extremely rear disease. Therefore, they require the best updated information from a qualified medical personnel in their initial visit.

The first person to provide this information is a neurologist. Neurologists are medical specialists who investigate, diagnose and treat patients with neurological disorders. Neurological disorders are those disorders that affect the nervous system. For this reason, the neurologist is the best person for providing this information because he or she has vast knowledge of nerves. Since Tay - Sachs affects the nerves; the neurologist will be able to provide informative and professional information about the disease (Schapira & Byrne, 2007). Additionally, the neurologist has done a thorough research about the disease thus he or she will be able to offer possible treatments to the disease if there are any.

The information expected from the neurologist is the cause of Tay - Sachs disease. The neurologist will be able to give medical information of how the disease affects the fetus. He or she will be able to show clearly how the disease is transferred hereditary from the parents to the child. Secondly, the neurologist will provide information of how to maintain the disease since the cure is yet to be discovered (Schapira & Byrne, 2007). Since the disease is rear and every time an infant or a fetus is affected it mutates in different forms, the neurologist will be expected to provide information based on the research the condition or the form of the disease of the fetus.

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The other medical professional expected to provide the information is the therapist. There are different types of therapists, but in this case, Trosack family will need a therapist who will help them with information about health, that is, a health therapist (Schapira & Byrne, 2007). This is because the Trosack family needs to know how to take care of their unborn child. Therefore, the health therapist will provide information about exercises to be taken to help the nerves and the spinal code. Additionally, he or she will provide the information as to why the exercises are helpful.

The last medical personality expected to provide this information is a psychiatrist. A psychiatrist is a physician who specializes in the diagnosis, prevention and treatment of mental disorders and other related disorders. The psychiatrist will be needed in this case because Rita and Peter might suffer a mental or a traumatic break down or shock due to disbelief. Therefore, the psychiatrist will provide information of how Rita and Peter can cope with the situation without suffering. He or she should be able to tell the family that they are not discriminated there are other people who have the same predicament (Schapira & Byrne, 2007). This information will be of extreme importance to the family.

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According to the case of the Trosack family, they do not have the relevant knowledge about Tay - Sachs disease because both of them are in the financial sector. Additionally, both of them are in denial that there families could have caused the disease. This shows that they do not have any knowledge of Tay - Sachs disease. Therefore, they need to be taught everything about genetics diagnosis and Tay - Sachs. For this reason, a teaching plan should be prepared to educate Rita and Peter. Below is the teaching plan for the Trosack family.

Genetic diagnosis is the process of determining whether a child is suffering or vulnerable to various diseases that are inherited from their parents. For this to happen, tests have to be done on the child. These tests can be defined as genetic testing. Because of the evolution of technology, genetic testing is also done on embryos or fetus. This testing is called prenatal testing. Therefore, in the case of Trosack family, prenatal testing was done on the fetus and a genetic diagnosis was issued by the doctor. After diagnosis, the child was found to be infected with Tay - Sachs. For this reason, genetic diagnosis is the prescribing of whether a child or fetus is suffering or vulnerable to hereditary or genetic diseases.

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Treatment of Tay - Sachs disease can be extremely tricky because there is no cure for the disease. Since the disease is not curable, the only treatment given to the patient is to suppress the symptoms (Mayo clinic, 2011). The first form of treatment is medication. There are different medications for the disease including seizure medications. The other form of treatment is the respiratory care. This is where the child is fed with tubes because Tay - Sachs disease tends to affect the lungs. The other form of treatment for patients is physical therapy. This is for the purposes of helping the joints to be flexible so that the child can have loner time for movement since Tay - Sachs affects the joints. Lastly, the parents are expected to be positive and support their child by showing him or her tender love and care. This motivates the child and improves the health of the child (Mayo clinic, 2011).

Prognosis of Tay - Sachs disease is tricky. Tay - Sachs disease is extremely fatal, and children diagnosed with Tay - Sachs do not exceed the age of five before they die. As it is known Tay - Sachs disease does not have a cure. In this case, if an infant is infected most probably he or she will not survive the ordeal. Therefore, parents are advised to watch out for the symptom because it might be their last (National Institute of Neurological Disorders and Stroke, 2011).

Support groups can be described as those groups formed for the purposes of people to air out their problems and release all the fears they have about a certain problem. There might be a support group for Victims of Tay - Sachs disease where parents whose children are infected with Tay - Sachs meet regularly. Most parents are usually in denial and disbelief that they are the cause of Tay - Sachs disease. For instance, in the case of Trosack family, Rita and Peter need to visit a support group since they are in denial. In this group, they would be shown that there are other parents who have the same problem. Therefore, they would be able to accept what is happening to them.

Referrals are done when diagnosis of a patient is done. For example, when a patient visits a hospital the doctor usually performs different test to establish the disease. After diagnosing the disease, the doctor may refer the patient into another hospital because they have the expertise to treat the patient more than he or she does. Therefore, in the case of Trosack family, the doctor referred them to a specialist who can offer better treatment for them than he or she can.

Lastly, pregnancy information is all the information that relates to the pregnancy. In this case, when a woman becomes pregnant, she attends prenatal clinic so that she can have all the information pertaining to the pregnancy. In the case of Trosack family, Rita was being provided with pregnancy information.

However, there are ethical issues relating to personal genetic information. The first ethical issue is privacy. Many people do not like genetic test to be done on them. This is because they would like to keep some of the information private. It may make or break a family depending on the results of the tests (American Nurses Association, 2011). Therefore, people prefer privacy when genetic testing is done.

The issue is that the genetic information may have a certain effect on the person. For instance, after genetic testing is done it may reveal a lot of unknown information to the patient. This can lead to a person having a break down thus it can affect the person more than becoming advantageous. In this case, the nurses should be extremely cautious so that they do not affect the patient's personal life (American Nurses Association, 2011).

Another ethical issue is that personal genetic information is an invasion to personal privacy. This is because the information obtained from genetic testing is private and it is not meant to for all eyes without the patient consent. However, when one is being employed some companies require a person to go for medical testing. If they decide to conduct genetic testing, they are invading the personal life of the patient. This can eventually affect a person if the genetic information is revealed to the public (American Nurses Association, 2011).

Another ethical issue that can arise is discrimination. The information obtain from the genetic test might lead to discrimination. For instance, if a person has a certain disease or is vulnerable to a certain disease, people might tend to sideline them. In this case, he or she has been discriminated. This shows that there is ethical implication of genetic information. Therefore, this information should be handled with care (American Nurses Association, 2011).

Trosack family decided not to abort the pregnancy because it goes against their religious values. I feel that people should follow their religious values because it is wrong to kill. Additionally, I feel that the Trosack family should be given a chance to have a baby because they have tried to get a child. Therefore, I think they should go with what their hurts tell them to do.

The Trosack family is right to stick by their decision because abortion is against human rights. Additionally, abortion is against God or Christian values because it is killing of human life. Therefore, the Trosack family had made the most ethical decision of continue with the baby. However, I do not believe is medically right because the baby will suffer for the rest of his or her life before dying.

According to the religious values, the Trosack family made ethical decisions to continue with the pregnancy. This is because it is unethical for people to abort for the fact their unborn child is sick. This shows that people are escaping are trying to escape responsibilities and the reality of the situation. Therefore, the Trosack family made an ethical decision to continue with the pregnancy than aborting it.

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Legally, the Trosack made the most ethical decision. This is because abortion is illegal thus it is against the law. It is only legal if the life of the mother is in danger. In the case of the Trosack family, life of Rita was not in danger at all. Therefore, according to the legal implications the Trosack family made the correct decision to continue with the pregnancy.


Genetic testing is essential for the purposes of evaluating whether the child or the fetus is suffering or vulnerable of a hereditary disease. For instance, in the case of Trosack family it was extremely helpful because they are already aware of what to expect from their unborn child. However, extremely caution should be taken due to legal and ethical implication arising from the genetic information because it can affect the family. Lastly, people should have all the information they need before making choices.



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