Huntington’s Disease and 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 show 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 difficulty 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 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 unique 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 administer 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 strain 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 counselling. 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 (two sisters, three brothers) and her three other siblings appeared to be unaffected. HW has two 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 ‘counselling’ 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 the diagnosis of HD, discuss scenario-specific genetic counselling preparation for case management and follow-up, identify and discuss at least one ethical issue, a potential barrier to communication or challenging aspect (for the counsellor) 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 the 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. However, this 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 is 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 the 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 contains 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 base 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 in 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 the presence of the disease should be taken using the above methods.

Scenario-specific genetic counselling preparation for case management and follow-up

According to The National Society of Genetic Counselors, genetic counselling is the process outlined for genetic counsellors to help people to understand and acclimatize to the physiological, medicinal and the implication on the family by the genetic disease. Genetic counsellors 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 counselling. A counsellor 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 counsellor 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 counselling, the counsellor should prepare on explaining to HW how construal of a family’s medical account has the potential of reviewing possibilities of the disease and or reappearance in the family. He or she should prepare on educating HW about testing, management, how to prevent the disease and teach him about the research and resources about the disease. He or she should also prepare on advising and helping HW make conversant alternatives and ways of acclimatizing to the situation or risk.

He should also put in mind to prepare on a follow-up and support strategy for HW, which includes making house calls and availing himself when HW asks for assistance.

The best available (recently published) clinical review references

According to the Michigan state website, genetic counsellors teach, advice and offer support to families whose member(s) suffer from genetic disorders. The work of genetic counsellors includes identification of affected families, scrutiny of the family’s history and formulating course of action to be taken. The counsellors are an integral part of health care professionals. The genetic counsellors should conduct pre-counselling preparations by reading literature on the same condition and pertinent medical records. They should collect the family’s medical history to lay a basis for their assessment of chances of a patient developing the condition i.e. genetic risk assessment. They should discuss with the patient and their families the chances of developing genetic conditions, and this should be based on the family’s medical history.

Education of the families on the symptoms, risks, testing options, prevention, management, and current research status of research on the condition should be availed to the families. They should help in coordinating genetic testing when required and, finally, they should advocate for informed decision-making and assist families in coping with the condition or risk. Documentation in medical records should be done on the condition. A follow-up on the patient should be formulated, and seminars to educate health care professionals, patients, and students should be done (State of Michigan website 2011).

Ethical issues affecting counsellors

One ethical issue that arises from the case of HW is whether to have his daughter, who is 15 weeks pregnant to undergo a test for Huntington’s disease. This is bearing the implication the disease would have on her and her unborn child. In addition, there is no known cure that can be administered for the disease and diagnosis would not be of medical benefit to the unborn child. Another ethical issue, in this case, is that of his seven-year-old child who has not yet been tested for this disease and is still a minor.

Not to test

In most cases, about 95% of Huntington’s disease does not manifest itself until adulthood. Societies that specialize in Human Genetics strongly advocate against minors being tested for incurable diseases such as Huntington’s disease and those diseases that only affect a person when they are in adulthood. They make these recommendations on two principles. The first argument is the affected person should be given a chance to make this decision of being tested when they are older, emotionally and intellectually able to handle its implications. Second, the confidentiality of the child’s disease or condition is broken when it is told to their parents without their consent (child).

This places the case of HW son who is a minor at crossroads. Some societies, though, argue that sometimes it is right to take prenatal diagnosis. For example, a society in Australia argues, “prenatal diagnosis should be available for women who have a high-risk fetus with a DNA identifiable condition” and that “the action to be taken on the basis of the abnormal result is a decision for the couple concerned based on the information given with full counselling support.” (Human Genetics Society of Australasia 2005).

If a test is done on a fetus for Huntington disease, it is no different from doing the test of a minor, if the results of the test do not lead to termination of the pregnancy. In this case, the parents will have knowledge of the child’s condition, and this deprives off the child the chance of making a choice whether to take the test or not. Decisions on whether to administer prenatal tests in the case of HW’s daughter, therefore, must be based on the questions of who is viewed to have the greater right, the rights of the child to make the decision when they are older or is the parent’s right more important than those of the child, irrespective of the condition being tested. Outcomes of these testing might harm the parents as seen in cases that have been reported where parents have experienced anxiety that lead to depression upon learning their child is gene-positive for Huntington’s disease. The parents also get worried about how and when to tell their children of the results (Decruyenaere et al. 2005).

To test

HW’s daughter should have tests for Huntington. This is on the bases that it would put things into perspective, and if the tests turn to be negative, it will spare her the agony of worrying about her unborn child health perspective. This would also spare her child the same agony when he grows up. Uncertainty about her child health prospects would place her under a lot of anxiety and frustrations. Additionally, the information about her child’s health would assist her in making future decisions about having other children.

The claims that termination of pregnancy is the only reason that would make a person undertake this test is ill fetched because there is no proof that those who seek this test do go on to terminate their pregnancy (Helder et al. 2002). It is also criminal for a clinician to withhold or refuse to test a patient unless the patient agrees to some prior agreement (Forrest et al. 2003).

The potential challenging psychosocial aspects of Huntington disease on the case

Various psychosocial adversities would affect HW and his family. This can be looked at in two dimensions. One, the psychosocial impact of Huntington disease on HW, and second the psychosocial impact of the disease on the family. HW is scared and tries to hide it by claiming he is mentally tough to face the test alone. He seems stressed and easily agitated when he has an outburst clearly stating he would attend the session alone if he ever bothered to attend.

With this kind of stress, it is not clear what HW is capable of doing including committing suicide, which is common among people suffering from this disease. His refusal to talk about the family history of the disease shows a person who is in denial about the possibility of having the disease and is not ready to face the tests. The other psychosocial impact would be on the family. The first victims of this would be his seven-year-old son and 15-week pregnant daughter. The possibilities of HW having Huntington’s disease place a lot of uncertainty about the health prospects of the unborn child and that of his son.

CW, the daughter, would be under a great amount of stress not knowing whether she suffers from the disease and at the same time the fetus. Huntington disease and any other chronic genetic disorder have been known to disorient families, and this can be pinned down in various ways. One is the emotional system change the family undergoes through a lot of emotional turmoil during the testing period and after the test if results are positive. Many families lack skills in dealing with these emotional challenges and may strain family relations. Second is segregation of the self, which disrupts the family system and causes people to hide the results of the tests from family members. Another is the psychosocial impact that comes because of financial burdens caused by the disease. The disease has no cure, and this places the family under a lot of burden taking care of the patients (Dawson et al. 2004).

According to Bowen theory, also referred to as Family Systems, theory (FST), a family is one dynamic emotional unit. In this family, any changes in one member affect the behaviour and feelings of the rest. The theory claims that members of a family are interdependent on each other and thus a need to study them as a unit and not as individuals. In doing so, a family is taken as a separate system with unique characteristics distinct from those of family members who make up the family (Hamilton et al. 2005). From this theory, a number of family facets are indicators of psychosocial effects that may be anticipated from the preface of HD in the family. There are four postulates in this theory, which are the differentiation of self, emotional cutoff, emotional systems of the family and lastly projection process of the family.

Segregation of self

Introduction of HD in the family unit forces individual members to take certain approach changes and thus reply in ways that match to his or her level of segregation or discrimination relative to the other family members. An affected person chooses the members of the family to disclose the results. Preparation during pre-test helps the affected person make a choice on the level of differentiation they would like to keep with their relatives or family. In a view to protecting the family from distressing information as well as painful, individuals choose different methods or entirely refuse to inform them (Richards & Williams 2004).

Emotional System

Presence of HD in a family causes major changes in family relations. This may include changes in family structure, physical and personality change of the affected individual and probable death of the affected member. This adversely affects the family emotionally and strains the basic relationship that exists in family members. The opinions of the affected persons who are seen as a useless addition to the close relatives feeling embarrassed, miserable and are vulnerable to social segregation. The theory asserts that feelings are basic intuitions that lead to the survival of a person and society members. This, in turn, understands the nuclear family expressive system as a structural scaffold a family assembles and adjusts to ensure its performance even in varying conditions (Wertz 2001).

Family Projection procedure

This process is connected closely to the emotional system as it is often characterized by marital argument and dysfunction in either of the couples. The concept refers to an interrelation prototype where parent’s nervousness and doubts are transferred to their offspring’s when they cannot admit the insinuations of the disease. When a parent places these troubles to their children, they are able to cope with the anxiety between them, thereby assisting to sustain functioning. This, however, does not expunge the dilemma but transmits the predicament to the susceptible relatives who are the offspring. The involved parents’ problems impact the offspring’s strongly, and this places the children at danger of low self-esteem. This thus requires proper parenting practices to create secure bonds with the children (Richards 2004).

Expressive Cutoff

This is a phrase normally used to depict psychological impediments that make a person sightless to psychologically indicted difficulties, and this is usually in efforts to work on issues in affiliation that are yet to be decided that come from someone’s history. When the disease begins to show, it is usually seen as distressing and burdensome by a family member and can result in depression and a sense of helplessness. Denunciation of the existence of the syndrome in carriers hides the fact that their family unit members are prepared mentally, and that they require time to understand and adapt to the circumstances (Van der Meer et al. 2006).

References

Aubeeluck, A. (2005) Caring for the Carers: Quality of Life in Huntington’s Disease. British journal of nursing 14.8: 452-4.

Brouwer-DudokdeWit, C., et al. (2002) A Hereditary Disorder in the Family and the Family Life Cycle: Huntington Disease as a Paradigm. Family Process 41.4: 677-692.

Creighton, S., Almqvist, E., MacGregor, E., et al. (2003) Predictive, Pre-Natal and Diagnostic Genetic Testing for Huntington’s Disease: The Experience in Canada from 1987 to 2000. Clinical Genetics 63: 462-475.

Dawson, S., et al. (2004) Living with Huntington’s Disease: Need for Supportive Care. Nursing & Health Sciences 6.2: 123-30.

Decruyenaere, M., et al. (2004) Predictive Testing for Huntington’s Disease: Relationship with Partners After Testing. Clinical Genetics 65: 24-31.

Decruyenaere, M., et al. (2005) Partners of Mutation-Carriers for Huntington’s Disease: Forgotten Persons? European journal of human genetics 13.9: 1077-85.

Evers-Kieboom, G., et al. (2002) Predictive DNA-Testing for Huntington’s Disease and Reproductive Decision Making: A European Collaborative Study. European journal of human genetics 10.3: 167-76.

Forrest, K., Simpson, S., and Wilson, B.J., et al. (2003) To Tell or Not to Tell: Barriers and Facilitators in Family Communication about Genetic Risk. Clinical Genetics 64: 317-326.

Hamilton, R., Bowers, B., and Williams, J. (2005) Disclosing Genetic Test Results to Family Members. Journal of Nursing Scholarship 37.1: 18-24.

Helder, D. Kaptein, A., and Van Kempen, G. (2002) Living with Huntington’s Disease: Illness Perceptions, Coping Mechanisms, and Spouses’ Quality of Life. International Journal of Behavioral Medicine 9.1: 37-52.

Human Genetics Society of Australasia (2005). Predictive testing in children and adolescents. Web.

Richards, F. (2004) Couples Experiences of Predictive Testing and Living with the Risk or Reality of Huntington Disease: A Qualitative Study. American Journal of Medical Genetics 126A: 170-182.

Richards, F. and Williams, K. (2004) Impact on Couple Relationships of Predictive Testing for Huntington Disease: A Longitudinal Study. American Journal of Medical Genetics 126A: 161-169.

State of Michigan website. (2011) Guidance to genetic Counseling. Web.

Van der Meer, L., et al. (2006) Attachment in Families with Huntington’s Disease. A Paradigm in Clinical Genetics. Patient education and counseling 63.1-2: 246-54.

Wertz, D. C. (2001) The Family Covenant and Genetic Testing: No Consensus Worldwide. The American Journal of Bioethics 1.3:14-15.