Huntington Genetic Counselling

Introduction

Huntington's disease is a rare disease that is hereditary. It is a neurodegenerative disease and is characterized by chorea, emotional disorder, and dementia. The disease was described first in 1872. Huntington's disease or condition is an autosomal dominant trait. This means that an offspring of a carrier, regardless of sex and taking the assumption the other parent is a non carrier, has a 50% chance of getting Huntington's disease (Aubeeluck 2005). The first symptoms of this disease usually shows when the patient is at the age of 25 to 50, though the age of 35 to 45 is the most common time the disease manifests itself. The common signs of the condition include fiddling, jerky movement, mood swings, addictions, irritability and difficult in walking and sitting. The rate of development of the disease is different in individuals with some being able to continue their daily careers and others just retire. The disease usually leads to death after 15 to 20 years after it begins. Death is caused mainly by complications of the disease and not the disease (Evers-Kieboom et al. 2002). The deaths are usually from injuries and suicide. The disease has no cure and what is left is only alleviating the signs and not stopping development of the disease. The patients are under homecare because there are no residential care facilities owing to the uniqueness needs of the patients and the substantial financial burden on the health system. There are, however, support groups meetings that the patients can attend and administering of antidepressants that can help the patient handle the emotional turmoil (Brouwer-DudokdeWit, et al 2002). The disease is known to cause a lot of stain on relationships in the family and if not handled well may be a cause of marriage and family breakups.

This paper will discuss a case where HW, a 54 year old, is referred by his GP for genetic counseling. His medical history shows that his family has a history of Huntington disease (HD). Referral noted that the younger of his two brothers had just been diagnosed with HD at age 49. HW is currently married and has a 7-year-old son, AW, from this relationship as well as a 28-year-old daughter, CW, from his first marriage. CW is 15 weeks pregnant with her first child. HW's mother had died from the condition as had five of her siblings (2 sisters 3 brothers) and her 3 other siblings appeared to be unaffected. HW has 2 first cousins (both males) clinically diagnosed with the condition and one of them has a son showing clinical signs at age 32. When first contacted, HW indicated that he did not see the need for 'counseling' as he was 'mentally tough' and preferred to get on with the test to end the uncertainty. He seemed uncomfortable discussing the family history and his personal experience of HD in his relatives. When advised that he should consider bringing his partner, a family member or trusted friend to the first appointment as a support person he indicated with anger that he did not need that and would attend on his own, if he bothered to turn up. It will further consider and outline the process required for diagnosis of HD, discuss scenario-specific genetic counseling preparation for case management and follow-up, identify and discuss at least one ethical issue, potential barrier to communication or challenging aspect (for the counselor) that might arise from the case. Finally, the paper will consider and discuss the potential challenging psychosocial aspects of the case.

Consider and outline the process required to diagnose Huntington disease

Various methods can be used to diagnose Huntington disease. The most common is differential diagnosis, which entails looking at the family history. In this case, it is straightforward in patients who have symptoms of Huntington disease and their families have a history of the disease. This however is not always the case as a number of cases reported, about 8 %, are patients who have no family history of the disease. It can also sometimes be impossible to differentiate the disease from others like dentatorubropallidoluysian and other phenotypically similar familial diseases. Other methods applied include imaging which are employed in moderate to severe forms of this disease. In this case, MRI and CT show a substantial loss of striatal volume and an increase in the size of lateral ventricles' frontal horns. Clinical genetics is also used in detection and diagnosis of Huntington disease (Decruyenaere et al 2004). The gene for HD is known to be located at the short arm of chromosome 4 and is linked with an extended trinucleotide repeat. At this site normal allele contain CAG repeats, but in cases where the repeats reach 41 or more the disease is considered fully penetrant. In cases of incomplete penetrance, there are 36-40 repeats. When there are 35 or less then they are not linked to this disease. Research has shown that though there is a high amount of interest among people at risk of this disease less than 5% of these persons will pursue genetic testing. The people who do it do it, do based on making decisions on career and family. Predictive testing has many risks and people who lack information about the disease may make drastic decisions and may result to committing suicide (Creighton et al 2003). In the case of HW, whose family has a history of Huntington disease care and further test to ascertain presence of the disease should be taken using the above methods.

Discuss scenario-specific genetic counseling preparation for case management and follow-up

According to The National Society of Genetic Counselors, genetic counseling is the process outlined for genetic counselors to help people to understand and acclimatize to the physiological, medicinal and the implication on the family by the genetic disease. Genetic counselors should be compassionate and skilled educators able to explain the condition to a patient in a language that the patient can understand (Aubeeluck 2005). In the case of HW, his young child and an older daughter who is 15 weeks pregnant they need a lot of counseling. A counselor assigned to his case should have adequate preparation because it has been noted he is unwilling and is scared about the disease. This is seen when he gets angry after being advised to have a friend or family member during the coming session. He is also uncomfortable discussing his family's history and claims to be mentally tough.

The counselor should also prepare on how to explain to HW the importance of telling and advising his daughter who is 15 weeks pregnant to visit the clinic. As in any other type of genetic counseling, the counselor should prepare on explaining to HW how interpretation of a family's medical