Huntington's Disease Essay

3443 words - 14 pages

Huntington's Disease

A shadow of love
doesn't have arms to embrace you,
to make you feel wanted and secure.
It only blocks out
the warmth of what could be.
-Jean Miller, a woman whose daughter Kelly died of Huntington's Disease

A woman stares pensively out her bedroom window. Today is her twenty-seventh birthday. Most people have the whole rest of their lives to look forward to when staring out the window at this age, but not Sylvia. She isn't sure. Ten years ago her mother was diagnosed with Huntington's Disease, a late-onset genetic disorder, and Sylvia was forced to watch her mother deteriorate to the point where she could no longer take care of herself. Sylvia and her brother had to put their mother in a home. Now Sylvia faces a lot of decisions and dilemmas. She has recently married. Now, she and her husband are trying to decide whether or not to have children, and the local hospital just hired her as a physician's assistant. But how long does she have until she begins to deteriorate like her mother? Or maybe she is the lucky one; maybe she didn't inherit this gene from her mother. There are many uncertainties in her future right now. There is one way to erase these uncertainties, and that is predictive testing for Huntington's disease. But is this the right choice for her?

Huntington's Disease is an autosomal dominant degenerative disorder of the central nervous system. This means that if either parent has the disease there is at least a fifty percent chance that the offspring will develop the disease. There is complete penetrance, so all who have the disease will develop symptoms. It is a late-onset genetic disorder in which symptoms begin to appear in the late thirties or early forties. There are some cases however of juvenile or geriatric Huntington's Disease. There is currently no cure, so to those who develop the disease, it is lethal.

The most characteristic feature, and the symptom which is used to first diagnosis Huntington's, is chorea. Chorea can be characterized by a series of tics affecting the face and limbs. In more advanced Huntington's the chorea turns into athetosis or dystonia in which the affected person experiences a "writhing quality" (Furtado 7). There are other characteristics of this deadly disease too in which the patient slowly loses control of all involuntary movements. Eye movement abnormalities are sometimes excessive blinking or gazing. There are psychological and sexual changes as well as cognitive dysfunction and a decline of memory. Patients usually become irritable, impulsive, and highly suspicious of others. They also experience depression, become anti-social, and develop delusional thinking. There is a high suicide rate among those with Huntington's, but there is a discrepancy about whether it is because of the depression, or because the disease is emotionally painful and lethal without any hope of recovery. As far as sexual activity is concerned, people either become...

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