Tay-Sachs Teaching Plan Desired Patient Outcomes the Essay

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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.

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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….....

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