Juvenile Huntington’s Disease

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While adult Huntington’s disease focuses mainly on movement problems, the childhood version involves other psychological issues that result in behavioral problems as well. The neurological bases of the disease stem from either degenerative areas of the brain or improper development. According to Jack Oliver & Kenneth Dewhurst (1969), the child develops normally and then “becomes clumsy, ataxic, dysarthric, and mentally backward” (455). While hereditary transfer of the disease is found in adults, many adolescent cases go unnoticed. Often times, these cases go on without being properly diagnosed. Only a small portion of all Huntingon’s disease cases are attributed to early on set with children (NiH, 2011). This disease also has profound effects on the life of the child. For instance, stiff limbs and seizures were common in tow out of three children under thirteen years of age diagnosed with the disease (Oliver & Dewhurst, 1969). This affects the child’s further development as well as their early social interactions. Generally, children tend to be immature and pay little attention to normal rules of society (relative to other children of that age). This surely impedes normal socialization and cognitive development. 

While Huntington’s disease is most widely found within adulthood between the ages of thirty and forty, children as early as three year old show symptoms. The disease begins to become noticeable depending on how severe it is. For example, if the genetic mutation is extremely serious, then the symptoms begin to emerge at a younger age. However, most individuals with moderate mutation of the gene can live to be seventy or eighty years old without any active symptoms.

Since the genetic cause is a mutation called the “CAG repeat expansion,” the defect is based on how serious the genetic encoding error was. For example, within the fourth chromosome, there is a string of DNA called CAG that repeats ten to thirty five times for normal people (Huntington Society of Canada, 2000). However, with children with Huntington’s Disease, there are fifty to sixty (or more) repeats in the genetic code and thus the symptoms show up relatively early (HSC, 2000). This disease is mainly spread through genetics. The child of a victim usually has a 50% chance of acquiring it as well (NiH, 2011). Since it is not clearly understood what the CAG gene is supposed to do normally, it is difficult to pinpoint exactly (if any) behaviors antagonize it. 

While there is no cure for the disease, there are a variety of methods to help the patient alleviate the symptoms and live a normal life. Since much of our behavior is controlled by dopamine levels in the brain, “dopamine blockers may help reduce abnormal behaviors and movements” (NiH, 2011). Unfortunately, as the disease progresses and gets worse, the patient will eventually need to be held under twenty four hour supervision. Finally, most patients commit suicide after suffering from depression because the disease is highly degenerative (NiH, 2011). Therefore, since there is no cure or effective treatment, those suffering with the juvenile version of Huntington’s disease must rely on close family for support and closure. 

For support, treatment and information, the Huntington Society of Canada is a major institution located on 151 Frederick Street, Suite 400, Kitchener, Ontario N2H 2M2. Their phone number is 1-800-998-7398. Another location in the United States is the Huntington’s Disease Society of America, which is located on 505 Eight Avenue, Suite 902, New York, NY 10018. Their phone number is 1-800-345-HDSA (4372).

My humble opinion regarding this condition is that it is difficult for the families in terms of coping. Since parents know that their children will die within fifteen years, it must be a very emotionally overwhelming experience. Also, since the patient gets worse without hope of reversal, it is also sad. If my child had this defect, I would be extremely discouraged to know that I will most likely outlive my child. I would probably suffer from depression and seek out psychological help for possible depression. Surely, if my child had this disease, it would change my lifestyle because I would be focused on being a caregiver. Since they would need constant supervision and such, I would make sacrifices with my job and social life until my child died. Moreover, I would have to raise money because the cost of medical expenses would be very high. All in all, my lifestyle would have to be selfless and focus on my child solely.

References

Huntington Society of Canada. (2000, January 1). Juvenile Huntington Disease: A Resource for Families, Health Professionals and Caregivers. Juvenile Huntington's. Retrieved September 17, 2011, from http://www.hdac.org/caregiving/pdf/juvenilehd.pdf

National Institute of Health. (2011, April 11). Huntington's Disease - PubMed Health. Retrieved September 16, 2011, from www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001775/

Oliver, J., & Dewhurst, K. (1969). Childhood and adolescent forms of Huntington's disease. Journal of Neurology, Neurosurgery and Psychiatry, 32(1), 455-459.