Gnt1 Tay Sach's

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Tay-Sach’s Disease Case Study
Stephanie deDianous, RN
Western Governors University

Tay-Sach’s Case Study
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. Background

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...
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