Tay-Sachs Disease

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Tay-Sachs Disease
Melissa Baldwin
Western Governors

Tay - Sachs Disease
Tay-Sachs disease is a genetic disorder in which, an auto-recessive gene is passed down to the child by both parents. It progressively destroys nerve cells in the brain and spinal cord. The gene is responsible for producing an enzyme that will cause the breakdown of lipids. The defective gene is unable to produce the enzyme; therefore, there is an accumulation of lipids. When there is too much lipids stored in the body, it is harmful to the body’s cells. Ganglisides (a form of lipids) buildup in the brain and ultimately kill the brain cells, which results in an impaired function. There are 3 types of Tay-Sachs: infantile, juvenile and adulthood. The latter two are less severe. Tay-Sachs in an infant will begin to slowly stop progression of the child’s movements. For example, rolling, crawling and sitting. As the disease progresses, the infant most likely will experience blindness, seizures and paralysis (Tay - Sachs Disease, Oct. 2012).

In the case study that was provided, Mr. and Mrs. Trosack have conceived a child. Mrs. Trosack had a genetic screening performed at her first prenatal visit. This was performed due to her maternal age. One of tests came back positive for Tay-Sachs disease. After hearing this devastating news, she and her husband have agreed to meet with an interdisciplinary team to discuss her plan of care. During her visit with the team, a teaching plan will be presented to the both of them and the ethical implications that will rise. The Trosacks have already decided that abortion is not an option. Interdisciplinary Team

An interdisciplinary team has been brought together to discuss the matter of Tay-Sachs disease with Mr. and Mrs. Trosack. This team is comprised of 5 key team members. Although, there will be plenty of healthcare professionals involved in Mrs. Trosack and the infant’s care, these key members will cover the basics needed.

The first member of this team is the perinatalogist. This is a high risk obstetrician. He will be managing the care of the pregnancy. Mrs. Trosack can plan on having a non-stress test performed with each visit after 24 weeks of pregnancy. This test will determine if the fetus is under any amounts of stress without the added stress of uterine contractions. The perinatalogist will also perform monthly ultrasounds to ensure growth and development of the fetus. This test will determine any abnormal physical features or growth patterns. The ultrasound will also diagnose placenta growth abnormalities, along with inadequate amounts of amniotic fluid. The perinatalogist will discuss the pregnancy expectations and signs and symptoms of problems that may occur with the Trosacks. He will be able to answer their questions that pertain to a high risk pregnancy.

The second key team member is the genetic counselor. This genetic counselor will be present due to the fact that this is a genetic abnormality. This counselor will need to obtain a medical history, as well as, a family history of the both Mr. and Mrs. Trosack. The counselor will be able to provide an explanation of how Tay-Sach disease is inherited, recommend specific tests and be able to discuss the genetic test results that was already given and how Tay-Sach is diagnosed. The counselor will also provide a prognosis. Tay-Sach Disease does not have a good outcome. The disease usually will cause death in early childhood. The genetic counselor will also provide supportive counseling to the couple.

The third key member of the interdisciplinary team is a social worker. The social worker will be able to assist with financial resources and support groups. The social worker will be able to provide information on local support groups, as well as, national support groups and resources. The social worker will also act, as an insurance case manager; and work with the insurance company on preauthorizing procedures. She will also be able to...
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