Genetic Disease Diagnosis, Screening, Treatment, And Advocacy
This case study involves a couple who are expecting a child. Testing has been conducted identifying the unborn child having the condition of Tay-Sachs disease. The nurse in this scenario will identify interdisciplinary team members and create a teaching plan to educate the couple about this disease. This work in writing will discuss three ethical implications regarding the availability of personal genetic information and will reflect on thoughts and feelings about the couple's choice and discuss how one would advocate for the couple's decision. Finally, this study will discuss how ethical and legal considerations affect the couple's decision about continuing the pregnancy.
Interdisciplinary Team Members
Interdisciplinary team members for effective treatment of the child in this case study will include naturally, the obstetrician, a maternal-fetal medicine specialist, a geneticist, and pediatric subspecialists including cardiologists and physical therapists. The maternal-fetal medicine specialist can provide information about the accuracy of the diagnosis of Tay-Sachs Disease to the parents in this case study. The geneticist can also provide needed information on why the baby has this disorder and to explain to the parents that they are not to blame for the baby having this disorder. The physical therapist can provide information about the care and treatment of the baby following its birth and the other pediatric subspecialist also can provide information about the care and treatment regimen of the baby after its birth.
Teaching Plan
General Information
Tay-Sachs disease is a rare disorder that is inherited. This disorder progressively destroys nerve cells or neurons in the brain and spinal cord. The infant with Tay-Sachs disease will generally appear to be normal until the age of three to six months at which time the child's development slows down and the muscles that are used for movement show signs of weakening. The child will lose their motor skills including those of turning over, sitting and crawling. These children are also very sensitive to loud noises and develop an exaggerated startle to them. Progression of this disease results in seizures and losses to the ability to see and hear as well as intellectual disability and paralysis. Children born with this disorder generally do not live past early childhood. (Genetics Home Reference, 2012, paraphrased)
The genetic mutations causing this disease are more common among those of eastern and central Europe and specifically among those with Jewish heritage. Tay-Sachs disease is caused by mutations in the HEXA gene which makes provision of instructions for the forming of an enzyme called beta-hexosminidase A. Beta-hexosaminidase A plays a primary role in the brain and spinal cord. This enzyme is reported to be located in lysosomes stated to be "structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside." ((Genetics Home Reference, 2012, p.1) The activity of beta-hexosaminidase A is disrupted by the HEXA gene and this serves to prevent the enzyme from breaking down GM2 ganglioside. Resulting is an accumulation of this substance at levels that are toxic especially in the brain neurons and the spinal cord. The buildup of the GM2 ganglioside causes progressive damage and the neurons are destroyed thus the development of the symptoms of Tay-Sachs disease. (Genetics Home Reference, 2012, paraphrased)
Tay-Sachs disease results in both parents pass the defective gene to the child. When both parents are carrier of this disease the child has a 25% chance of developing this disease. There are three classifications of Tay-Sachs including: (1) infantile; (2) juvenile; and (3) adult. Most people develop Tay-Sachs while in their infancy. (Genetics Home Reference, 2012, paraphrased)
Prognosis
The disease usually appears when the child is between three and six months of age. The disease worsens quickly and the child rarely lives longer than four or five years of age.
Treatment
The only treatment available for Tay-Sachs is treatment of the symptoms of this disease. It is reported that "Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube." (National Institute of Neurological Disorders and Stroke,...
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