Helping persons at risk for Huntington disease

People at risk for Huntington' disease vary in their abilities to deal with the burden of uncertainty, depending on their personal attributes and their personal experience with the illness in a relative. A few consult physicians for reassurance, but most avoid doctors until they become ill, and even then many resist medical attention, claiming against all evidence that they are perfectly well. Relatively few persons at risk decide to have genetic testing to see whether they have the Huntington' disease gene, but persons who choose testing usually handle the results well, regardless of the test outcome. (2:P They are often people who like to plan for the future; for them uncertainty is worse than bad news. Testing should always be preceded by genetic counselling that includes a discussion of the person' motivations. These usually include childbearing, educational and job decisions, or providing the information to their young adult offspring. Many individuals who come for testing have not seriously considered the possibility that they will have a bad outcome test, so that role playing about various outcome scenarios is important. Occasionally, persons request testing who have recently been told about Huntington' disease in their families or who are depressed or under unusual stress for other reasons. Such persons should be encouraged to delay testing until their situation becomes more settled. Finally, some people who request testing already have symptoms of Huntington' disease, yet do not wish to have a diagnosis. Considerable care is required to decide how best to support individuals in this situation, and family members or other close friends of the person should be consulted. (22>

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