Angelman Syndrome: A Genetic Disease Essay

1163 words - 5 pages

A genetic disease is a disease that can be heritable or inheritable, and one of them is known as Angelman Syndrome. Also referred to as AS, it can change a person, both physically and mentally. Angelman Syndrome, just like any other genetic disease, has symptoms, or characteristics of the carrier. It has effects on the daily life of the carrier, and can be treated, but not cured. AS also has a certain prognosis, or outcome.
Angelman Syndrome, similar to other genetic diseases, has many symptoms. Symptoms are mental or physical characteristics that determine that a person has a genetic disease or any disease in general. In Angelman Syndrome, one common symptom is that of speech impairment (Roggenback). Another symptom that is usually present is late development, which is when the body takes more time than it is supposed to in order to form an appearance (Roggenback). People with AS may have periodic seizures, as well as Microcephaly, which is when a person has a smaller head than normal (“Angelman Syndrome.” National). They are prone to having balance disorders, which causes unstable and jerky movements (Roggenback). Along with these shaky movements, patients with Angelman Syndrome have hand –flapping movements (“Angelman Syndrome.” The Encyclopedia). The balance disorder is a possible reason for their walking problems.
Although there are many severe symptoms of Angelman Syndrome, there is a few that seem to be more laid back and do not affect the diagnosed patient as much. According to Genetics Home Reference, “Children with Angelman Syndrome typically have a happy, exitable demeanor with frequent smiling, laughter, and hand –flapping movements” (“Angelman Syndrome.” Genetics). Therefore, people with Angelman Syndrome do not always have life –threatening symptoms. As an example, their appearance is seen as having pale skin and light –colored hair (“Angelman Syndrome.” Genetics). They are not usually known to talk, yet may have laughing fits. They are always in a happy and a positive mood, despite their genetic disease and what they have to go through because of it.
Due to their genetic change in them, a person with Angelman Syndrome has a different life from a person who does not have a genetic disease. A person with AS has a daily life that may include having people help them with daily routines, such as putting on clothes, eating, and/or brushing their teeth. These helpers can either be a member of the patient’s family or could be a nurse who comes in the morning to help them and the family. The AS patient’s day moves on by taking many different medications, possibly at different times of the day depending on how frequent they must take it. If they go to school, the patient might have a customized schedule for school in order to reach their learning needs. A person with Angelman Syndrome might have to leave early to go to a certain therapy or a doctor’s appointment regarding other physical illnesses, such as obesity or scoliosis, which kids...

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