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7 Sep 16

Living with Huntington’s Disease

Case Study 2
A Negative Result


Case Study 1 | Case Study 2 | Case Study 3 | Case Study 4

K was married with one child when she learned that her mother had Huntington's disease. As in other families, her mother became bitter and angry and her behaviour caused all sorts of ructions in the family, who used to cover up for what she was doing. K went to see her GP within weeks of finding out about the predictive test. The doctor didn’t explain to her how Huntington’s really worked and told her she didn’t need to be tested unless she was planning to have more children, so she waited over a year before requesting the test.

She finally demanded to be tested because another health professional told her that her depression and other problems were a result of her mother having Huntington’s. She was annoyed at having all her problems attributed to Huntington’s and wanted to know whether this as a realistic assumption. She also wanted to make decisions about her career and have the knowledge for her child.

She discussed taking the test with her husband and child as well as with some other family members. For years she knew there was something terribly wrong with her mother and kept asking her father to take her mother to a doctor. She was not sure whether her mother had been tested but no one in the family wanted to talk about it. She actually heard about her mother’s condition from a family friend.

K found it hard to get reliable information about Huntington's disease. Health professionals she talked to had heard about the disease but didn’t know enough to help. She eventually found a doctor who put her in touch with the right people who arranged a visit to the geneticist. The visit was supportive and helpful. While some of the information she was given was confusing, she finally knew why her mother’s behaviour changed as she was growing up. She became angry at the family for not dealing with the problem sooner and scared at her own situation. The longer the process took, the more convinced she became that she must have the disease. There were some doubts as to whether and when she would be tested which added to her confusion.

At first other family members did not want to know about the test or to give K support. She felt alone and scared with her only comfort coming from the fact that she was taking the test for the family’s benefit. Her husband accompanied her when she got her results - he wanted to know whether she was going to become a problem later in life and if he would end up looking after her. The long wait for results was a trial. As K said: The not knowing and having to put my life on hold for so long was so annoying. I wanted it over and done with, the sooner the better. The wait was hell! There’s got to be a faster way. I lost months and months of my life in limbo, even in bed, days when I thought, ‘Yes, I’ve got it.’ After reading the book I could relate to a lot of things. In fact, the result was negative.

K received good support through the Huntington's Disease Association before during and after the test. K commented: Dorothy was the only one who called me a few months later. I’d told her I would only call her if I did have the gene. She’d been so good and spent so much time with me. I didn’t want to take up time that might be needed by someone who had a positive result.

 Once she had her result, K reflected on the predictive testing process:

Having a process with a lot of professional help is good as long as everyone knows what’s going on with each department. Insecurity only adds to the stress of coping in between appointments. It would be nice to have a drop in centre to help you go through the waiting if you have to wait. It’s too hard to hold down a job while you’re going through the process. I never used the three counsellor sessions offered by the Huntington's Disease Association. I figured I’d save them for after the results if they were positive. I didn’t want to waste them. I now look back and wish I’d used them during the testing process.


Case Study 1 | Case Study 2 | Case Study 3 | Case Study 4

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Appreciation and thanks must go to Judy Lyon for compiling the wealth of information available
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