Donka-Shay: Huntington’s Disease

Donka-Shay: Huntington’s Disease

Jessica Marie

My sophomore year, I was placed into the class of the most talked about teacher at John Hersey High School: Mr. Shay. Now, Mr. Shay taught health class. He was an Irish man who was retiring that year, so basically, he could do anything he wanted short of blowing up the school and the administration could not touch him. Mr. Shay was known for his prostitute’s bag, wonderful stories, the word “bouffed” which he created and shall remain undefined for good reasons, and telling his students that bread with peanut butter dipped in Ben and Jerry’s ice cream was better than sex. Among his wild tales of trapeze fornication, we as students realized just why he had so little inhibitions when he told us that he was one of four children…and that two of his siblings had Huntington’s disease and that he and his brother did not. According to Genes and Disease by the National Center for Biotechnology, 30,000 Americans have Huntington’s disease and around 150,000 are at risk of inheriting the disease from carrying parents. Huntington's disease is passed down through genetics (Wrong Diagnosis, 2007). The debilitating disease is caused by an expanded CAG repeat. It is a neurodegenerative disorder denoted by the slow and agonizing development of involuntary muscle movements that can affect the individual’s feet, hands, and face. Along with cognitive deterioration, dementia is also a more unfortunate consequence in which the neurologic problems include chorea (which is uncontrolled, awkward motions) and athetosis. Dementia is mostly associated with baffling disorientation and lack in memory control (Walker, 2007).

In a monozygotic twin study on Huntington’s disease, two patients were closely watched for a duration of thirty months monitored by motor and behavior scales. Patient 1 showed uncontrolled awkward movements (chorea) and elevated anxiety levels at the age of forty years old. Then, at the age of forty-two, Patient 2 displayed “persecution paranoia” and motor impairments. There were not any distinct differences noted using observations in motor scoring except for slightly minor changes. However, in regards to the cognitive and behavior scales, Patient 1 displayed a profound worsening fluctuation when juxtaposed with Patient 2. The study’s case supports the notion that motor symptoms in Huntington’s disease are extremely dependent on the trinucleotide expansion. A trinucleotide is a repeat in the genetic code (i.e CCG as opposed to CAG). But, the fluctuations in mental status of the study’s Patient 1 and Patient 2 suggests that in regards to Huntington’s disease, other mysterious “environmental factors” are still vital in the “phenotypic expression” (Garamendi, 2007).

In another study, researchers took an inside glance at how Huntington’s disease affects young people (YP) and their family life. A sample of thirty-three young people that ranged from 9 to 28 years of age were questioned. The study utilized exhausting interviews to find out about (1) insight of their own safety; (2) future care for the affected(3) defensive and problems that pose a threat and (4) the affect of Huntington’s disease in regards to relations with close family members and the rest of the population. The study found that those who were introduced to Huntington’s disease at a younger age were more likely to cope better with the concept and worried less (Keenan, 2007).

The treatment of Huntington’s disease is primarily focused on relieving the symptoms such as reducing chorea and behavioral instability. However, there is some evidence to support the idea that Huntington’s disease decreases of BDNF (Brain-derived neurotrophic factor), so there is the suggestion that increasing the levels of BDNF could have some possibly of curing treating the disease. Preventative measures can also be taken to stop the wide growth of Huntington’s disease by adopting children if one is a carrier instead of reproducing and passing on the crippling disease to future generations (Cattaneo, 2005).

Mr. Shay finished out his last year at John Hersey High School. Out of all the teachers I have had though my entire high school experience, he stands out as one that taught me the most to appreciate life. Mr. Shay told us of the major decision it was to decide if he wanted to get tested for Huntington’s disease when he was 15 and find out if in his later years a disease was going to take hold of him and would ultimately lead to his death. He was a high schooler when he was faced with a decision that was far more greater than choosing a college or a prom date. While some teachers stick to the text, Mr. Shay taught us a lesson that was not memorized dates and silly equations to parabolas…he taught us that we are so lucky to be alive and healthy. He decided because he was still a carrier of Huntington’s disease not to reproduce but to adopt children. His small step is the small steps that all Huntington’s disease carriers should take because it is so easy to prevent the spread of this debilitating disease.

Work Cited

Cattaneo, E., Liber, D., Ramos, C., Rigamonti, D., Tarditi, A., Tartari, M., Zuccato, C. (2005). Progressive loss of BDNF in a mouse model of Huntington’s disease and rescue by BDNF delivery. Pharmocological Research, 52. Retrieved February 12, 2007, from http://prox1.harper.cc.il.us:2052/ehost/delivery?vid=8&hid=105&si...

Garamendi, I., Gomez-Esteban, Lezcano, Perez, T., Tijero, B., Velasco, Zarranz. (2007). Monozygotic Twins Suffering from Huntington’s Disease Show Different Cognitive and Behavioural Symptoms . European Neurology, 57. Retrieved February 19, 2007, from http://prox1.harper.cc.il.us:2052/ehost/detail?vid=4&hid=118&sid=99a9fd8a-5ba8-445b-9d4a-70ccd21465d8%40sessionmgr10

Keenan, F. K., McKee, L., Miedzybrodzka, Z., Simpson, S.A., Van Teijlingen, E. (2007). Young People’s experiences of growing up in a family affected by Huntington’s disease. Clinical Genetics, 71. Retrieved February 19, 2007 from http://prox1.harper.cc.il.us:2052/ehost/detail?vid=10&hid=101&sid=c69759df-2f68-4396-bc01-a141355eec3b%40sessionmgr103

Walker, F. (2007). Huntington’s disease. Lancet, 369. Retrieved February 18, 2007, from http://prox1.harper.cc.il.us:2052/ehost/detail?vid=11&hid=101&sid=c69759df-2f68-4396-bc01-a141355eec3b%40sessionmgr103

Wrong Diagnosis (2007). Genes and Disease by the National Center for Biotechnology. Retrieved February 18, 2007 from http://www.wrongdiagnosis.com/h/huntingtons_disease/stats.htm