Tay-Sach’s Disease Essay Example for Free

Tay-Sach’s Disease Essay The purpose of this paper is to discuss the hereditary genetic disease Tay-Sach’s, discovered during a pregnancy. The discussion will focus on developing an interdisciplinary team and care plan for the expectant parents based on their wishes. This paper will also cover any ethical and/or legal dilemmas that may arise as well as identify counseling needs of those involved. In addition, there will be a personal reflection about high risk pregnancy, abortion, and the decision made by the expectant parents. This study involves a married couple who after two years of trying to conceive a child became pregnant. The expectant Mother Rita Trosack is 43 years old and her husband Peter is 46. They are both Caucasian and have mediocre knowledge of their family history. Due to advanced maternal age, chorionic villus sampling was performed and it was determined that the baby is affected with Tay-Sach’s disease. Criteria Interdisciplinary Team, Rationales and Expectations Due to positive finding of the fetus being afflicted with Tay-Sach’s disease, this pregnancy is now considered to be high risk. This will require a more specialized interdisciplinary team to follow her intensely throughout her pregnancy as well as the baby after he/she is born. First and foremost the patient(s) are always going to be a part of the interdisciplinary team. Making them a part of the team helps them to be more comfortable with the situation as a whole. It also makes them feel as though they have some sort of control throughout this ordeal. It will be the patient(s) responsibility to voice their concerns and wishes. The first healthcare member of the team is the RN. The RN will be the advocate for the family. It will be his/her responsibility to build a trusting relationship and rapport with the family in order to build their confidence and make sure that their wishes are being adhered to. In this particular case the RN will need to be able to recognize her own feelings in regards to the issues that surround Tay-Sach’s disease and know how to set them aside so that he/she can properly advocate. The RN will need to assess the situation, background, culture, and beliefs to get a good sense of who the family is. It will be the RNs duty to try and answer any questions the family may have and direct the family to the necessary resources that they may require. Another member of the team will be the perinatologist. This is a physician who specializes in high risk pregnancy and births. There will also be a neonatologist, this is the physician who specializes in newborns that are premature and/or have birth defects. This member of the team will be involved in the care of the fetus throughout the pregnancy as well as at the birth and will follow the baby until care is transferred over to a pediatrician. The pediatrician will provide the necessary care and treatment for the infant and into his/her childhood, basically throughout life. A genetics counselor will be brought in to speak with the family about Tay-Sach’s disease. The counselor will be able to assess the parent’s knowledge base of genetics, explain the disease and how it is caused, discuss any concerns they have, and explain the possible outcomes of future pregnancies. A social worker will also be involved to provide the family with any other resources they may need such as support groups, counseling and/or legal help (Ainsworth, 2011). Teaching Plan The RN would need to initially call the patient and set up an appointment for them to come in and speak with the physician. The physician would be the one that would explain to the family exactly what Tay-Sach’s is. The physician would explain to the expectant parents that Tay-Sach’s is an inherited disorder that is caused by a genetic mutation that both parents carry. What happens is the body is missing an important enzyme and without it, there is a buildup of a fatty substance within the cells of the nervous system, mainly the brain, ultimately resulting in permanent malfunction. Signs and symptoms of the disease do not begin to surface until the child is around six months of age and it begins with gradual dysfunction of the motor skills. As the nervous system further degrades the symptoms become worse and the child loses sight, hearing, and mental functionality. Unfortunately there is no treatment for Tay-Sach’s except comfort measures and the life expectancy for a child with infantile Tay-Sach’s disease is typically four to five years (Ainsworth, 2011). The physician would need to emphasize that maternal age or lifestyle does not have any part in the cause of this diagnosis. The physician would then need to explain the options available at this time which are carrying the child to term or terminating the pregnancy via therapeutic abortion (Tay-sachs. org). Depending on the parent’s decision, should they choose to carry the child, they can also choose to care for the infant or place it for adoption. After the physician has spoken with the family, the RN would need to be there for the family, not only to listen, but again to answer any questions they may have. Mr. and Mrs. Trosack have decided to carry their infant to full term and care for their child due to their religious beliefs. At this time the RN would be responsible to clarify and document the parents’ wishes. The RN would be responsible for coordinating appointments with the specialists that will be involved in the care and communicating this with the family. The RN will then give the family the educational information to the parents to take home with them and the web address to the online support group for Tay-Sach’s. While finding this type of information out is unsettling, it will be the RNs job to make sure and give the parents ways to cope. The RN can teach them about relaxation techniques such as guided imagery, music therapy, or breathing patterns that can be done in situations when they are feeling anxious about the impending birth. The RN will educate the parents on maintaining a healthy diet and continuing regular activity and exercise as the physician recommends. The RN will explain to the expectant parents that since the pregnancy is considered high risk based on maternal age and the diagnosis of Tay-Sach’s there will be more frequent visits to the perinatologist than one would typically expect and there may be more ultrasounds performed to assess the baby. With any pregnancy the RN would want to educate the parents about signs of labor and when to seek medical attention in case of an emergency. The parents would need to know things that are not normal during pregnancy such as burning upon urination, vaginal bleeding, fluid gushing from the vagina, severe swelling, vision changes, loss of consciousness, or a severe headache. Education about abstinence from smoking and consumption of alcohol is also a necessity, regardless. Another oint of discussion eventually will be the birth, the RN would need to let the parents know that with a high risk pregnancy, home births are not recommended (mayoclinic. com). Ethical Implications of Genetic Testing Some would argue the genetic testing, especially during pregnancy gives someone the right to play â€Å"God†. In an article written by Dr. Rob DeSalle he discusses how we are now able to detect certain genetic disorders that parents can pass to their children such as Tay-Sach’s or Phenylketonuria. According to his article he wonders if this will give people a free pass to design their babies. Dr. DeSalle also speaks about â€Å"superhumans† in his article and the fact that with advancing technology we could create a race without defects (amnh. ecolleg. com). Chorionic villus sampling is typically done at 10-12 weeks gestation. An ethical concern surrounding the timeframe of this testing is that it often causes the parents to make the decision of a therapeutic abortion in a pregnancy that may have spontaneously aborted on its own. Although this theory is not 100 percent, it still could prevent the family from going through such a disheartening experience (Himes, 1999). Another dilemma families are faced with is the risk versus benefit. Chorionic villus sampling does not come with our risks. This type of test involved inserting a catheter either through the abdomen or transvaginally into the placenta and collecting a sample. Doing so has been known to cause a spontaneous abortion or even cause reduced limbs. The test, while important, could potentially do more harm than good. Ethical and Legal Dilemmas Whose right is it to bring a dying child into the world? Some believe that everything happens for a reason and others believe doing so is a form of inhumanity. This could surely affect the parents decision, especially if they felt that carrying the child to term and bringing it into the world would cause it suffering. What if the test is wrong? It is known that chorionic villus sampling is not as effective of a test as an amniocentesis, therefore with this knowledge the parents may wish to wait until further testing can be done, however by that time, the choice of therapeutic abortion is no longer an option (Himes, 1999). As far as legalities are concerned, discrimination would possibly be an issue. The parents insurance may not want to provide the necessary coverage for their child because the diagnosis was made in utero and they could have â€Å"prevented† it. The child is also going to require around the clock care, will either of the parents be let go from their positions for needing to take so much time off of work? These are two issues that also may affect the parent’s decision. It was determined that they both work very extended hours and this child will definitely have an effect on that. Patient Advocacy Advocating for the Trosack’s means standing up for them so that their decision and wishes are adhered to and making sure they are heard by the interdisciplinary team. The RN would also be their voice of reason when trying to explain their decision to other family members that they may bring in to learn more about the situation. Regardless of the RNs personal feelings it is his/her duty to make the parents feel confident in their decision and know that they are making the right decision for themselves. Personal Reflection As far as my own personal opinion, I am completely against abortion unless it is medically necessary or a woman has been raped or molested and does not want the baby that was conceived as a result. I do believe that the parents have the right to do whatever they feel is best for their family. In the case of the Trosack’s, I fully support their decision to carry their child.