TAY-SACHS

Genetics Case Study

Abstract

The paper presents a case study and analysis from the perspective of a nurse who is responsible for determining how to best meet the needs of Rita for care upon the initial visit. The paper commences with an overview of the case followed by the identification and justification of the appropriate members for the interdisciplinary team. Moreover, a teaching plan for Trosacks' initial visit is also presented along with the ethical implications regarding the availability of personal genetic information. The paper is concluded with a personal reflection on the case under review.

Genetics Case Study

Overview of the Case

The case is about the life of a married couple; Rita and Peter, and the complications faced by Rita during her pregnancy. Rita is a 43 year old Caucasian woman, and has been married for six years to her husband, Peter, a 46-year-old Caucasian man. They live in Chicago and are successful in their professional life. Although they were highly blessed in all aspects of life, but the greatest blessing of nature was missing. However, after about two years of trying to conceive a child, Rita started experiencing some strange symptoms and feeling of illness. The pregnancy test came to be positive, thereby missing the empty place of a child in their life. The couple was very exhilarated and tried their best to avoid any complications.

Rita stopped drinking wine with dinner. The physician also gave her basic information about nutrition and exercise, education regarding the normal and warning symptoms of pregnancy. Since Rita is of normal weight for her height and has always been in good health, she is very happy about her pregnancy.

Rita attended her first prenatal visit with Dr. Zimmerly. The doctor recommended her to undertake the chorionic villus sampling to screen for fetal genetic defects. Both of them were positive that this test is just a precautionary measure and the results would be negative. However, the result of the CVS indicated that the fetus is afflicted with Tay-Sachs disease. The couple was given a referral to a high-risk perinatal clinic by the physician.

Task A

Members for the Interdisciplinary Team

Meeting or counseling session cannot be effective and productive unless proper information is gathered and analyzed before the session. It is imperative to identify the right sources of information and proceed accordingly. In the case under review, the medical history of Rita and Peter, their families and their life style is crucial from the nurse point of view. This information can be obtained from different people including the parents of Rita, Father of Peter, Dr. Zimmerly, the doctor who treated the deceased child of Rita's paternal grandparents and the medical practitioner who was involved in the treatment of the deceased children of Peter's paternal grandparents. At this point, it is very important to know the unknown cause of death of the mentioned people at an early age.

The Parents of Rita can provide critical information about the family history. Information regarding family's genes, Rita's childhood, or the reason for the deceased ...