Abstract
BackgroundSince Huntington's Disease (HD) is a familial disease with an average onset in the mid-thirties, one might expect that spousal carers are concerned with providing care for off-spring who may turn out to be affected.MethodsThis study involved ten face-to-face interviews with carers of spouses affected by HD in Northeast Scotland. Carers were recruited through two channels: a genetic clinic and the Scottish Huntington's Association (SHA). Interviews were conducted in carers' own homes. A thematic analysis of the transcripts was conducted.ResultsAlthough carers did worry about their children, they did not envisage being involved in their care. Many avoided talking about the disease, both within and outwith their family; this may have greatly reduced the level of support provided by family members. Conversely, avoidance was often accompanied by symptom-spotting. For example, several people had given up driving, before they were incapable of doing so. The explanation appears to be that they avoided getting into situations in which HD may express itself.Support meetings seem to be valued amongst patients with other serious diseases and their carers, however, although all participants had had contact with the SHA, only one regularly attended meetings. It was felt that seeing others with HD provided a constant reminder of the possible effect of HD on the wider family, which seemed to outweigh the benefit of attending. Overall, the analysis highlighted 'avoidance' as a key theme.ConclusionMany denied symptoms of HD in their spouses, pre-diagnosis. All had pretended at some point that it was not happening, through ignoring early signs and 'obvious' symptoms. Some partners had refused to go to the doctor until it was no longer possible to deny symptoms. Formal health and social care seemed to play a very small role compared to informal care arrangements.
Highlights
Since Huntington's Disease (HD) is a familial disease with an average onset in the mid-thirties, one might expect that spousal carers are concerned with providing care for off-spring who may turn out to be affected
All had pretended at some point that it was not happening, through ignoring early signs and 'obvious' symptoms
Some partners had refused to go to the doctor until it was no longer possible to deny symptoms
Summary
Since Huntington's Disease (HD) is a familial disease with an average onset in the mid-thirties, one might expect that spousal carers are concerned with providing care for off-spring who may turn out to be affected. Huntington's Disease (HD) is a terminal inherited progressive neurodegenerative disorder of the central nervous system, characterised by a variety of symptoms that affect the patient's physical and mental health. The only possible method for presymptomatic HD testing was by linked DNA markers This was a complex procedure that would not always give a conclusive result, and needed blood samples from multiple family members. The isolation of the single specific mutation meant testing became possible, with a reliability of >99%, without the need for co-operation of relatives. This has been of profound importance to HD family members, allowing a simple and accurate molecular test to determine their HD status. This has been of profound importance to HD family members, allowing a simple and accurate molecular test to determine their HD status. [2]
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