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WHERE THE BUCK STOPS
This will consist of a physician, a geneticist, an ethicist, a lawyer or legal practitioner, and a health care provider. The physician or pediatrician will make the diagnosis (of Tay-Sachs), the geneticist, as a specialist, will provide more specific information on genetic diseases, particularly Tay-Sachs, as to causes and risks, prevention, diagnosis and treatment. The physician and geneticist can together form a plan of care for the nurse's implementation. The ethicist will provide information on the accepted moral values of correct human conduct, behavior and decisions involved in dealing with Tay-Sachs disease. The lawyer or legal practitioner will inform the parties on current laws and court decisions covering or affecting the management of these genetic disorders. And the nurse who will carry out the detailed instructions of the geneticist and the physician and incorporate the guidelines provided by the lawyer into these instructions.
The physician will be asked state the diagnosis of the disease, its cause or causes, stage, treatment and prognosis. He will connect and explain the disease and the patient's family history. He will give prescribe appropriate medicines and medications to alleviate symptoms. The ethicist will explain the moral principles involved in the decision a couple or person makes in dealing with the disease. A strict ethicist frowns at the double-effect condition of morality. Birth defects do not justify abortion, which is murder. The geneticist provides information on the specifics of Tay-Sachs disease, its development, consequences and prognosis. The lawyer or legal practitioner informs the team about the current laws and court decisions covering actions, which violate medical ethics, such as abortion. And the nurse implements the directives of all four professionals in detail, maintains a record of the patient's condition and acts as communication link in the team.
Tay-Sachs disease is a fatal genetic disease of the nervous system, which passes through families (NINDS, 2011; Sheth, 2011). It is characterized by the inadequate activity of an enzyme, beta-hexosaminidase A, which is required to catalyze fatty substances, specifically ganglioside GM2. Ganglioside GM2 builds up in the nerve cells and causes mental and physical disabilities. An infant with this disease appears to develop normally for the first few months. But he soon becomes blind, deaf and cannot swallow. His muscles atrophy and paralysis develops. Other symptoms likely to develop are dementia, seizures and abnormal sensitiveness to noise. In his early 20s or 30s, his gait becomes unsteady and deep red spots develop in his eyes. The condition is particularly high among Eastern European and Askhenazi Jewish people. Studies say that 1 out of 27 of them carries the mutated gene (NINDS, Sheth).
A simple and relatively inexpensive blood test that measures beta-hexosaminidase A activity can detect the presence of this disease (NINDS, 2011; Sheth, 2011). Both parents must be carriers of the mutated gene in order to pass it on their offspring. There is a 25% chance of spread with each pregnancy. Prenatal diagnosis can be obtained. If only one parent has the gene, the child becomes only a carrier. He will not be sick but will likely pass on the gene to his own children. Tay-Sachs disease is classified into infantile, juvenile, and adult, according to the symptoms and the time of the first appearance of these symptoms. Most cases are infantile because nerve damage begins right in the womb. Symptoms first appear between 3 and 6 months after birth. The afflicted child usually dies at age 4 or 5. The adult form of the disease is rare (NINDS, Sheth).
When the disease is suspected, the physician performs a physical examination and notes the family history (NINDS, 2011; Sheth, 2011). He may also perform an enzyme analysis of hexosaminidase levels in the blood or body tissue or an eye examination for the red spots on the macula. At present, there is yet no treatment, only ways of making the patient more comfortable. Anti-convulsants are used for seizures. Techniques to keep the airway open and a feeding tube are also used. Spasticity, seizures and loss of all voluntary movements are likely in the first 3 to 10 months. The prognosis or prediction is for the symptoms to get worse with time and death at age 4 or 5 from recurring infection. The disease cannot be prevented in a child already afflicted with it. Genetic testing can be performed for suspected couples in at-risk populations before they start a family. The amniotic fluid may also be tested to make a diagnosis in the womb (NINDS, Sheth).
There are national and local support groups that help ease the stress of this illness, such as the National Tay Sachs and Allied Diseases Association, Inc. (Sheth, 2011). Research continues in the laboratories at the NIH. Grants to medical institutions also support additional research on this disease throughout the country (NINDS, 2011).
Genetic Information and Pregnancy Education
One first practical task by health care professionals is to determine the best way to provide genetic services (Jenkins, 2001). But genetic testing can only predict Tay Sachs disease, not prevent or treat it. It can only inform the couple of a predisposition before symptoms arise. The goal is to influence them to adopt a lifestyle and preventive measures of care. Suggestions about these preventive measures are unfortunately resisted by the majority of couples. Promoting the health of the would-be offspring and the would-be mother entails an investment on their part and society's in recognizing the value of preventing the pregnancy in the interest of all concerned. Education is a paramount measure. If the couple decides to pursue the pregnancy, they should be check out on insurance coverage and service providers. But they should be instructed on the inadequacy of current technology, therapeutics and surveillance, which are presently limited in terms of quality control and technology (Jenkins). Hence, pregnancy cannot be health if the child is diagnosed with Tay Sachs.
The three ethical and legal issues where physicians find themselves most often entangled are recognizing when prenatal testing is prudent to perform; determining the possibility of a genetically transferred illness in a patient's family history; and knowing if the diagnosis entails a risk to present or future offspring (Lagay, 2000).
The practice of medicine is guided by six ethical principles, five of which specifically pertain to genetic disorders, such as Tay-Sachs (CEJA, 1991). These five are beneficence, patient autonomy, justice and fairness, non-maleficence, and confidentiality. The sixth is dignity. Beneficence requires the promotion of health and the welfare of the patient; the prevention, removal, or reduction of harm or pain from him when no treatment exists; or the prevention of the birth of children with the disease. If the carrier couple persists in the continuation of the pregnancy despite the knowledge, the physician is bound by duty to help them prepare for the birth of a defective offspring. Patient autonomy gives patients the chance to informed consent to genetic testing and medical treatment before they are performed. Preconception screening grounds patient autonomy in making the choice. Justice or fairness requires the fair distribution of benefits and burdens of medical technology. It dictates that access to genetic screening be uniform across all socio-economic classes. Non-maleficence requires the physician to avoid or minimize confusion and fear by choosing the most effective methods of explaining risks and genetic information. And confidentiality obliges the physician to keep patient information private to the greatest degree possible. That information is highly confidential. When revealed to third parties, it can disrupt social relations, employment status, or insurability, or adversely affect the patient's moral or religious beliefs or values (CEJA).
The patient's right to confidentiality of his medical and health information is highly valued in the medical institution (CEJA, 1991). It strictly requires informed consent for disclosure with exceptions only in extraordinary cases. This principle extends to the disclosure of results of carrier screening for genetic disorders, such as Tay-Sachs disease. Employers and insurers are among those who will be interested in the information for their use in reaching business decisions. But narrow interests for gain will not outweigh the physician's sworn duty to protect the patient's right to confidentiality. The President's Commission for the Study of Ethical Problems in Medicine requires explicit informed consent from third parties to avoid potential misuse and resulting social or economic damage. Agencies must also use specific consent forms instead of the blanket form to avoid unnecessary disclosures and for greater control over access (CEJA).
The patient may encounter problems with close relatives who are screened and found positive for the disease (CEJA, 1991). The discovery of carrier status from testing may limit or prevent ham on relatives who can be identified. The prevention of harm can outweigh the patient's right to confidentiality but not too much in the case of carriers. Carriers do not cause or spread a disease or disorder as does a communicable disease. Furthermore, the likelihood of a couple's being carriers and procreating a defective child is still somewhat small.…[continue]
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