TAY SACHS CASE STUDY

Genetic Disease Diagnoses, Screening, and Treatment;

Advocacy and Decision Making in Genetics

Suleira Castro

Western Governors University

Trosack's Case

Case

One of the most exciting times in the life of a couple can be sometimes the birth of a long anticipated infant. For some couples, the most devastating and heart wrenching experiences are the birth of an infant afflicted with a genetic disorder. The very similar is the case of an urban couple Peter and Rita Trosack who are expecting the birth of their first child. Rita Trosack, a 43 year old female, went for an initial visit after becoming pregnant for the first time and she was referred to take high precautionary actions under the high-risk pregnancy clinic. The Chorionic Villus Sampling(CVS) test was conducted, as Rita aged 43. This test diagnosed that fetus is afflicted with the Tay-Sachs disease. Brain development is effected as a neurological disorder by the Tay-Sachs disease. The development of infants that are born with this disease is initially normal but later on apparent changes in the physical and mental abilities of such infants arise. The infants who are developed with the Tay-Sachs disease, due to deterioration in their mental and physical abilities, might lose their battle for life. The infants having Tay-Sachs disease have a life span of hardly 4 years.

In order to insure a successful outcome, nursing case manager is incumbent to provide information to the Trosack's to take a decision for not terminating their high risk pregnancy. This task will require numerous disciplines. An interdisciplinary team needs to be formed by a Nurse case manager in order to gain some enlightenment and information for the Trosack's initial visit.

Formation of Interdisciplinary team

Primary care nurse, Gynecology physician, obstetrician, genetic counsellor and social worker comprise an interdisciplinary team for Trosack's initial visit. It is highly helpful to have a member who would have experienced the case of the same genetic disease. As such team members are highly useful, as they carry the information to relate the disease with this case. In order to improve prenatal diagnosis, the use of new genetic techniques is controlled by the physician. The physician is also responsible to evaluate progress in treatment; to provide medical engagement of the patient; and to prescribe useful and mandatory tests and medications.

The obstetrician, which is indeed an obvious choice for comprising the team, plays the role as a leader of the team. The obstetrician is responsible to provide effective methods of treatment measures for Tay-Sachs disease. Different therapeutic approaches have been applied to investigate the best methods for treating this disease. The obstetrician is responsible to conduct clinical trials. Rita's health and fetal well being was discussed by the obstetrician.

Genetic counseling information is provided by the genetic counselors. They are also responsible to provide support to the families. Families are being taught by genetic counselors on the genetic issues. Genetic issues might include chance of recurrence, inheritance pattern, available testing and reproductive options. Genetic counselors are those health care professionals who are ...