Gnt1 Tay Sach's
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
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
References: American Museum of Natural History. (n.d). Seminars on science; genetics, genomics, genethics. molecular biology. Retrieved on September 24th, 2012 from http://amnh.ecollege.com/ec/crs/default.learn?CourseID=4572911&CPURL=amnh.ecollege.com&Survey=1&47=13217312&ClientNodeID=910503&coursenav=0&bhcp=1 Ainsworth, S. (2011). Tay-Sachs disease -- a triumph from disaster. Practice Nurse, 41(3), 31-32. Himes, P. (1999). Early pregnancy prenatal diagnostic testing: risks associated with chorionic villus sampling and early amniocentesis and screening options. Journal Of Perinatal & Neonatal Nursing, 13(2), 1-13. Mayo Clinic. (2012). High risk pregnancy; know what to expect. Retrieved on October 2nd, 2012 from http://www.mayoclinic.com/health/high-risk-pregnancy/MY01923/NSECTIONGROUP=2 Top of Form