Genetic testing in Huntington's Disease

By KShipley on March 7, 2010 3:24 PM | 0 Comments

In 1872, American physician George Huntington described a disease that can be traced back to the Middle Ages, when it was referred to as chorea.  Chorea is a term that describes the uncontrollable movements that are seen in individuals who are affected by the disease.  This disease was found to be hereditary and progressive.  Today this disease is called Huntington's disease (HD).  Currently more than 15,000 Americans are living with HD, with at least another 150,000 others who have a 50% chance of developing the disease.  This disease is passed from generation to generation, destroying families who have to watch their loved ones lose the ability to feel, think, and move (National Institutes of Health, 2009).

As stated above HD is a progressive disease that causes the loss of control over movement, behavioral changes, and memory loss over time.  The onset of HD is generally slow and insidious making it hard to distinguish when an individual transitions from being a risk for HD to having HD (Maio, 1992).  On average symptoms of HD begin around 40 years of age (Meiser & Dunn, 2000), although the disease has been seen in children as young as 2, and adults as old as 70 (Quaid et al., 2008).  After the onset, individuals with HD generally live for 10-15 years.  Currently there is no way to cure the disease or to slow the progression of the disease (Meiser & Dunn, 2000).  Patients suffering from HD commonly die from infection (such as pneumonia), injuries related to a fall, or other complications from HD (National Institutes of Health, 2009).

While there is no cure for the disease, there is a genetic test to determine if one will develop the disease with nearly 100% accuracy.  The decision to take the test is completely up to the individual.  Those who have the test tend to report that the uncertainty of being at-risk was more stressful than knowing that they did or did not have the genetic precursor to the disease.  Those who do not have the test report that they are trying to preserve hope and conceal their risk from others.
HD is a debilitating disease that after the onset one needs almost constant care.  Those who have the test are exhibiting there need for autonomy.  They need to be able to make decisions for themselves without the environment controlling those decisions.  They want to be able to decided how to live their life's, how to prepare for the disease, whether or not to reproduce, etc.
Those who choose not to be tested also seem to be trying to satisfy their need for autonomy, although in a different way.  These individuals want to be able to live their life's without knowing exactly what will happen to them in 10 years.  They want to make decisions without having a disease influence them.

I would want to know, but I understand the other side of the argument as well.  Which side would you be on?

To learn more about HD go to the National Institute of Health's website

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