Custom Hutchinson-Gilford Progeria Syndrome essay paper sample

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Hutchinson-Gilford Progeria Syndrome

Dr. Jonathan Hutchinson discovered the Hutchinson-Gilford Progeria syndrome in 1886. It was named by Dr. Hastings Gilford in 1897 (Progeria Research Foundation, 2010). It is a potentially fatal genetic condition affecting children. Among its characteristics are premature ageing, growth failure, heart disease and stroke (Hennekam, 2006). As the disease has no cure, the patient requires a lot of treatment and care. The paper explores the role of nurses in taking care of patients with the disease. It also describes the patient and family education necessary to manage the syndrome.

Progeria patients are usually at high risks of getting heart attacks and strokes, which are the greatest causes of the syndrome related deaths (Gosai et. al., 2010). In such instances, the role of the nurses is to handle emergency cases. They should perform cardiology tests and administer the patient with the necessary medications such as anticoagulants drugs (PRF, 2010).

Usually, children suffering from Hutchinson-Gilford Progeria Syndrome are born with normal weight. However, during the first year of their lives, they lose weight significantly. The nurses, therefore, have to ensure the patient strives to increase his weight. They should act as the patient’s nutritionist (Gosai et.al., 2010). Foods such as shellfish, sugar, caffeine, chocolate, nuts and cheese are known to trigger the frequent headaches experienced by patients. The nurse should guarantee that the patient avoids such foods (PRF, 2010).

Also, children living with the Progeria syndrome tend to have smaller and weaker bone structures compared to their counterparts (Hennekam, 2006). In such context, the nurse’s role would be providing routine physical rehabilitation for the child. Exercises such as hydrotherapy, and those involving strengthening and stretching of the bones are usually effective (Hennekam, 2006).

The nurse can also act as the family’s therapist. Families with children having the syndrome become eventually affected emotionally and financially. The nurse is to offer counseling services to both the patient and family members. Another function a nurse can perform is to educate those suffering from the disease on measures they can take to manage the condition, especially during the times when the nurse is absent. The education can include lessons on emergency situations and appropriate nutrition and should cover numerous questions ranging from the diagnosis to the management of the syndrome. The family can also learn to identify events that could trigger cases of heart attacks or strokees in the patients (Gosai et. al., 2010). They should also receive education on nutrition and lifestyle changes necessary to be undertaken. Nurses, doctors and other qualified professionals with knowledge of Progeria syndrome are to offer such education.

Part of the education should include genetic counseling. It will provide the patient and his family with critical information about the syndrome. For example, it is necessary for them to know that an independent dominant mutation is responsible for causing the syndrome, therefore, does not affect other family members (PRF, 2010). However, once a mother has given birth to a child suffering from the disease, there is a 2 to 3 percent chance of giving birth to another child with the same disease (PRF, 2010). It is attributed to mosaicism causing genetic mutation for Progeria in a small percentage of mother’s cells. Such a woman should go for prenatal testing.

In conclusion, with the lack of a cure for the syndrome, its effects can be devastating to the patients and their family. Thankfully, with nurses performing their roles and educating those affected by the disease on the management of such a difficult condition, the implications can be minimized. Hopefully, with the advent of advanced medical technology, scientists will find a cure.

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