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
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 point of discussion eventually will be the birth, the RN would need to let the parents know that with a high risk