Tay-Sachs is a fatal genetic disorder that is related to storage of genetic lipids in quantities that are harmful leading to the tissues and nerve cells in the brain. This paper is a teaching plan on Tay-Sachs disease. It also includes information on legal and ethical considerations in the consideration of continuing pregnancy after diagnosis of this condition.
Tay-Sachs Teaching Plan
Desired patient outcomes
The patient to understand the genetic nature of Tay-Sachs disease.
Patient to understand the treatment options for Tay-Sachs disease.
Patient to understand the prognosis of Tay-Sachs.
Patient to know about support groups available and appropriate referrals.
Patient to understand information about Tay-Sachs in pregnancy.
Educational content
Genetic nature of Tay-Sachs
Tay-Sachs is a fatal genetic disorder that is related to storage of genetic lipids in quantities that are harmful leading to the tissues and nerve cells in the brain. The lipid involved is ganglioside GM2. Tay-Sachs is caused by insufficient action of beta-hexosaminidase A enzyme which is a catalyst for the biodegradation of acidic fatty materials, gangliosides. As the brain develops, gangliosides are generated and biodegrade rapidly in the early ages of life. It is extremely rare. However, it leads to death of infants with this disorder at an early age Melillo & Leisman, 2010.
Mutations that occur in the HEXA gene are responsible for causing Tay-Sachs disease. The HEXA gene gives instructions for production of the beta-hexosaminidase A enzyme. This mutation disrupts the production and activity of the enzyme leading to the signs and symptoms of Tay-Sachs disease Melillo & Leisman, 2010()
Treatment options
There is no treatment that has been invented for the disease itself. However, the management of the symptoms is possible to make the patient feel more comfortable.
Prognosis
Children who have the disease usually have symptoms which get worse as they continue to age. Death usually comes by the time they are 4 to 5 years old.
Infants with the disorder usually appear to be normal till about the age of 3-6 months after which they become blind, dumb, deaf, and are unable to swallow. Muscle atrophy and paralysis also sets in followed by other neurological symptoms such as seizures, dementia and a startle reflex to the slightest noise. The disease eventually leads to death of the infant at about the age of 4 years.
Support groups and referrals
There are several support groups and organizations that help those with Tay-Sachs disease in their family line. One is the National Tay-Sachs and Allied Diseases Association. There is also March of Dimes, Genetic Alliance and National Organization for Rare Disorders (NORD). These organizations help to educate the public at large about Tay-Sachs and also do genetic testing which helps to detect is partners are at-risk of this condition. They also help to do counseling of those at risk of this disease.
Tay-Sachs in pregnancy
The National Tay-Sachs and Allied Diseases Association gives a recommendation that anyone who suspects they could be at risk of this condition should have a blood test done to ascertain if they are truly at risk. This also helps to prevent Tay-Sachs from developing in pregnancy as a result of diagnosis before conception.
Evaluation
1. The patient will respond to questions on the topic of Tay-Sachs disease.
2. Patient will need to state at least one support group or organization that they can get assistance.
3. Patient will respond to questions on what needs to be done to know whether they are at risk of Tay-Sachs.
Ethical implications regarding the availability of personal genetic information
The ethical implications of application of personal genetic information are a serious concern for healthcare professionals. They need to make sure that their actions are ethical and that even though they have the potential to improve the well-being of the individual and the society at large, they are in tandem with the ethical guidelines in the practice. The first ethical implication is that of informed consent. The health care professional must make sure that they overcome the challenge of offering generic services in order to sufficiently prepare the individuals who are at risk of Tay-Sachs to make decisions based on information that they have. There needs to be educational preparation such as that which is embodied in this teaching plan. The health care provider needs to give assurance to the patient on the privacy and confidentiality of the genetic information that is given to them as well as that there won't be any more stigmatization or discrimination as a result of this genetic information.
The second ethical issue is on policy implications. Genetic discoveries usually come with implication on the educational, medical practice and legislative policies. Genetic technology presents new tools which have the potential of being applied throughout the human continuum. Since the genotype of genetic diseases influences the response of the individual to lifestyle, environmental and physical influences which results in the predisposition for behavioral and biological problems. Therefore genetic discoveries bring about situations that need policies in place to prevent negative consequences of the genetics.
The third ethical implication is that of the impact on the person and the family. Genetic discoveries can create huge disruptions in families. Therefore health care providers need to prepare individuals and families as well on the impact of their knowledge of the genetic information and thus create guidelines to assist the individual and families at large to see the usefulness of genetic testing.
How ethical and legal considerations affect the couple's decision about continuing the pregnancy
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