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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.
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)
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.
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, 2013, p.1) According to the NHS website, treatment of this disease involves:
(1) Preventing problems with the lungs and airways
(2) relieving any feeding or swallowing problems (dysphagia); and (3) using medication to help control or relieve symptoms such as fits and muscle stiffness. (NHS, 2013, p.1)
Support Groups and Referrals
Support groups and referrals identified for the parents in this case study include the following:
(1) National Tay-Sachs & Allied Diseases Association -- This group is a peer support group for families of children with Tay-Sachs. This group provides emotional support and assist through a crisis as well as sharing resources and ideas and providing practical suggestions on caring for children with Tay-Sachs.
(2) MD Junction Tay-Sachs Support Group -- Located online at: http://www.mdjunction.com/tay-sachs-disease
(3) National Tay-Sachs & Allied Diseases: This is a support group located online at: http://www.ntsad.org/
Couples who are at-risk can choose from two prenatal diagnostic procedures which are available including:
(1) amniocentesis; and (2) chorionic villus sampling. (NTSAD Peer Support Group, 2013, p.1)
The options when the fetus is affected by Tay-Sachs include termination of the pregnancy through a therapeutic abortion. (NTSAD Peer Support Group, 2013, paraphrased)
Ethical Implications Regarding Availability of Personal Genetic Information
Chorionic villus sampling (CVS) is a newer technique which can identify the presence of Tay-Sachs disease in the fetus. The cell sample is obtained by withdrawing a small amount of the developing placenta CVS is reported to offer the couple more privacy in their decision-making and to result in a safer termination to pregnancy if a therapeutic abortion is chosen. It is reported that genomic medicine, while delivering a powerful method to "tailor health care at the individual level by using patient's genomic information" results in new questions about ethics and privacy of this information. (Lea, 2008, p.1)
The privacy issues include consideration of who will have access to genetic information and how conflicts will be resolved when some family members desire to be tested for genetic disorders and other family members do not want to be tested. As well, there are questions about the impact of genetic information and how this information may affect members of minority populations. (Leah, 2008, p.1)
Legal considerations are related to intellectual property uses in relation to accessing and using genetic information and the impacts of genomics on "concepts of race, ethnicity, kinship and individual and group identity." (Lea, 2008, p.1) The nurse should ensure that there is informed decision making regarding the consent given to ensure that individuals understand the "nature, risks and benefits of the procedure." (Lea, 2008, p.1) The ANA Code of Ethics defines privacy as involving the "right of the individual to control their own body, actions, and personal information. Confidentiality refers to the nurse's obligation to protect, and not to disclose, personal information provided in confidence to another." (Lea, 2008, p.1)
The Trosacks have chosen not to abort the pregnancy due to their religious beliefs about abortion. While this is understandable, the Trosacks have chosen to bring a child into the world that will most assuredly live no longer than five years of age. However, with the rapid advances in health care, there is the possibility that some cure could potentially be found for Tay-Sachs disease although it is certain that this is highly unlikely.
The financial, emotional and mental burden that the birth of this child will take on this family is great indeed and the nurse should be certain that the parents understand this disease and its progression so that they are as prepared as they possibly can be for the birth, care and ultimately the death of this unborn child.…[continue]
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Their heritage is important because certain ethnic groups are more likely to be carriers of Tay-Sachs. "The incidence of Tay-Sachs is particularly high among people of Eastern European and Ashkenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase a activity." (NINDS, 2011). Because the Trosacks have a fetus with Tay-Sachs, it is not necessary to test their blood
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