Tay-Sachs Disease Teaching Plan

Teaching Plan for the Torack Family

Plan for the Trosack's Family

As the nursing case manager for maternal parent 43-year-old Rita and the 46-year-old paternal parent Patrick Trosack, I have been appointed to advise these parents about the results of their Chorionic villus samping (CVS) administered through Dr. Zimmerly Gynecology & Associates on 7 July 2008 signified that the Trosack fetus was positive for Tay-Sachs disease, counseling of genetic birth defects. A more in depth evaluation of both the mother and father at the Genetic Counseling Medical Center should be discussed for the parents to find out more about their background, genetic make-up, and the risks of passing the disease to their children. Further diagnosis is an optional service we can provide and requires test results from both the mother and father in order to provide detailed results. Our team recommends the family immediately request to complete a physical evaluations, background questionnaire of the family and their health and ethnicity, as well as a special eye exam and blood work for further diagnosis and DNA results of the main reasons of the inheritance and genetic make-up of both families (Ainsworth, 2011).

In reference to the findings from the CVS, there is no sign of the enzyme HEX -- A which is required in human cells and when absent it causes a fatty-like matter to start gathering irregularly within the cells that develop and affect the human nervous system and brain. The uncommon genetic defect is a result of an alteration in the fetus chromosomes number 15 which must be present in both the mother and father that is then passed on to the unborn child. The normal chromosome number 15 has one copy of both a recessive and normal gene, and when it is not it is unfortunately the result of a slow but fatal process (U.S. National Library, 2008). A more in depth evaluation of both the mother and father at the Genetic Counseling Medical Center should be discussed for the parents to find out more about their background, genetic make-up, and the risks of passing the disease to their children. Further diagnosis is an optional service we can provide and will consist from both the mother and father a complete physical evaluations, background questionnaire of the family and their health and ethnicity, as well as a special eye exam and blood work for further diagnosis and DNA results of the main reasons for the malfunction of the gene (Ainsworth, 2011).

The genetic counseling team highly recommends that, in addition, the Trosack family seek genetic from our facility following the examination to discuss the best options for their family. Since there is currently no cure for this unfortunate disease the goal of our facility is to help parents that want to plan or who are expecting a baby to understand the risks and to feel as stress free and receptive as possible considering the circumstances that life brings unexpectedly. Our office is equipped with innovative equipment and a staff that has specialized in these fields to give patients and children the best care. We also have mental health services offered and highly suggested as part of our mission to families including the Trosacks that consist of doctors who specialize in family and child counseling including: in and outpatient assisted living care and equipment and staff, medications, physical therapy, and a referral program.