Abstract
Huntington's disease (HD) is probably familiar to most of the readers of this journal, in part because of the many ethical issues confronting people from HD-affected families. The relatively late onset of symptoms means that generations of a family can exist before younger family members realize that they are at a 50% risk of inheriting the disease from an affected parent.
Predictive testing is available, but the decision to be tested must be taken against the background of little immediate hope of effective treatment or cure. Young people from affected families have to decide whether to take the test and thereby revise their status from ‘at risk’ to either ‘positive’ or ‘negative’. If positive, they will be unable to avoid the subsequent shift from ‘pre-symptomatic’ to ‘symptomatic’. They will have a real sense of what that means for them, having observed their parents' and maybe grandparents' experience. For those who choose not to be tested, as well as those who test positive, reproductive choices become challenging and complex and this is only once the issues around establishing a long-term relationship have been addressed. For those who test negative, there is still the pain and responsibility of observing the decline of an affected parent, and possibly the need to support an affected sibling.
It was with some trepidation that I attended the annual weekend conference of the Huntington's Disease Association's Young Persons' Group, and it was a complete surprise to come away feeling energized and full of hope for what many of the young people present could, and would, achieve. Nothing was easy that weekend – the science was challenging but well communicated by a dedicated and enthusiastic young researcher; the discussion about having children was punctuated by quiet sobs, but was also interrupted at one point by a text message announcing the birth of a baby born as the result of preimplantation genetic diagnosis. Young men and women unaccustomed to public speaking managed to keep their audience with them as they spoke of the challenges they had already faced, and the way they saw their futures unfolding. Some partners and friends quietly accompanied those they had come to support; others spoke of their own fears or of what they were doing to try and fight this disease. One young wife spent her birthday participating as a control in a particularly demanding clinical trial; another young man had clearly read every bit of information available on the disease that might or might not define the future of his marriage.
It sometimes feels as if illness narratives too easily rely on the idea of journeys and communities, but over that weekend it did feel as if I was welcomed in by a community of young people brought together by the uncertain journey that most of them faced. It also became apparent that building upon the sense of community was important to them, and a very positive focus for their energies. One young woman described the need for a time in each day when she reflected upon the condition and the effect it could have on her life. Others felt forced, for the most part, to conceal and avoid it in their everyday lives, and described the relief of being with people who understood and with whom they could be open. Clearly, there was no one way of dealing with being part of the HD community, but the sense of fundamental shared experience was a powerful bond between a group of people who otherwise came from very varied backgrounds.
The Huntington's Disease Association has joined with other organizations worldwide to help fund HD Buzz (
It is always a challenge to find hope in a situation that entails suffering and ultimately death, yet I came away feeling much more hopeful as a result of observing the courage, resilience and application of a group of young people who have more reason than most to complain about the journey they have been set upon. Science will need to find the answers to relieving the symptoms of HD and hopefully curing the disease, but these young people will find their own way of living with it until then. I hope that they can raise the money they need to ensure that their community can grow unrestrained by geography or language. Please visit