Genetics and Tay-sachs Essay

Submitted By caitlingalligan
Words: 1771
Pages: 8

TAY-SACHS DISEASE 1
Today’s nursing care and knowledge base is light years away from where it all began. Nursing has developed along with the healthcare system as a whole to now be on the brink of science and genetic technologies. We will focus on nursing care and genetics throughout this case study. It is imperative as a nurse to stay abreast of new trends and knowledge regarding genetics as it may affect our practices, and possibly go against our own beliefs. This can create an avalanche of problems for some as these ethical issues arise. As professionals we need to be able to overcome our own beliefs and values to provide every patient with evidence and education to make the decision that is best for them. The case study we will be researching is that of the Trosack family. Rita and Peter Trosack are 43 and 46 years old respectively. They have been married for six years and are expecting their first child after a challenging two years of trying to conceive. Their excitement is halted abruptly after the recommended chorionic villus sampling indicates Tay-Sachs disease is present in the fetus. Their lives have forever changed and as a nurse we play a vital role in helping them through this time. For their initial visit it is important to have the appropriate interdisciplinary team ready to help this family through their challenging future. Appropriate members that should be included in this team are the perinatologist, a genetic counselor, a registered nurse, a social worker, psychologist and even the Trosack’s extended family. The perinatologist’s role is that of prenatal screening, and management of high-risk pregnancies with direct correlation with the obstetrician. These physicians specialize in maternal-fetal care of higher risked individuals which Rita would be considered. Working closely with testing and confirming diagnosis will help the Trosack’s understand the reality of this life changing news. Being able to identify and explain genetic factors and to help them from placing blame on themselves or one another. This individual would also be the person to explain life expectancy, symptoms and outcome for a fetus
TAY-SACHS DISEASE 2 diagnosed with Tay-Sachs. The perinatologist will work side by side with the genetic counselor to again help the Trosack’s understand the nature of Tay-Sachs. The genetic counselor will also help alleviate the blame game as to what went wrong with the pregnancy. Genetic counselors are able to be patient advocates and a reference for physicians at the same time. They play a vital role in diagnosing, educating and evaluating future risks of inheriting the same disorder. Other appropriate interdisciplinary team members include a registered nurse and a social worker. The registered nurse would be the go to person and the liaison between all other entities. The RN would be able to organize and schedule meetings with doctors, be a resource for questions and a comforting face for the family during these difficult times. Earning a patients trust, showing empathy and providing necessary support or simply listening to the Trosack’s concerns may be all they need at times. The social worker of the team would be a valuable resource in finding local or national support groups. They would be able to help direct them towards financial and emotional assistance as well. The social worker would directly work with the Trosack’s extended family to ensure their immediate support group has the tools and knowledge to help through the levels of grief through acceptance. Lastly, the psychologist in the interdisciplinary team would be of great value to help guide the Trosack’s through the emotional stages on their journey to acceptance. This person would assist with feelings of denial, blame, bargaining, depression…