Huntington’s disease is a rare and complex hereditary neurological condition. The symptoms of Huntington’s include problems with movement, cognition, and mood or behaviour but vary from person to person. The majority of people present with movement disorders, but certainly not all people present that way, and unfortunately there is often a challenge for healthcare practitioners in recognising Huntington’s.
Many family doctors will never encounter the disease, or come across it just once in their career and, therefore, in cases where there is no known family history, the onset of symptoms can unfortunately be missed.
Huntington’s is a traditionally neglected neurological condition, somewhat left behind in the race for public awareness. We are fortunate that public awareness of Parkinson’s and motor neurone disease has grown considerably in recent years, but we have yet to reach that point with Huntington’s. We do know that the families affected yearn for public awareness and understanding, which they often feel would make them feel less isolated in the midst of this uniquely psychological burdensome disease.
Supporting families with Huntington’s
When working with Huntington’s families, we encounter different issues at different stages of the disease, and different issues affecting different family members. In order to support a family with Huntington’s, it is important to have some understanding of the huge and devastating impact it can have on a family system.
For most people, when Huntington’s arrives it brings shockwaves. Even if they have an awareness of it within the family, it is still a shock to test positive for the gene, whether they do it, “just to know for sure” or because they are experiencing symptoms.
For people with children, whether they are still young or grown adults, their thoughts usually immediately divert to their status and their 50:50 chance of inheriting the gene. People who haven’t had children tend to immediately start to consider whether starting a family is the right thing to do or not. People who are single worry about disclosing their status to a prospective partner. Disclosing a family history of Huntington’s disease has implications for accessing mortgages, insurance and possibly employment prospects. All of these questions and dilemmas are extremely challenging and distressing.
The impact on family members
Most families that are living with Huntington’s take on family caring responsibilities. Of course, we know how taxing caring can be with any health condition, but it is worth remembering that for many family carers in Huntington’s disease they find themselves in a multi-generational caring situation. They may care for a spouse, and simultaneously have a parent or parent in-law ill with Huntington’s too, or they may be recently bereaved. Sometimes, a family carer may lose a spouse and then have to face the prospect of starting the caring journey again for a loved one. This is an extraordinarily high burden.
We are just beginning to research caregiver burden in Huntington’s. It is clear that there is an enormous physical burden, the challenge of caring for somebody with physical manifestation of the disease. Cleaning, supervising, checking that there is no injury, or choking, or accidents are common daily tasks. However, although that can be all consuming, the emotional side of caring can be equally if not more demanding. Often carers give up their whole life, certainly their career, often their friends and social contact to care for their loved one. It can be difficult to endure the emotional burden of changes in personality, cognition and mental health.
Carers also have to be good "managers" and advocates. The nature of Huntington's means that the primary carer needs to work with other services, always following up on physio, psychology, speech and language therapy, dietetic services, etc. Because in Ireland we have no dedicated services for Huntington's patients this challenge is exhausting and a constant pressure.
It is worth noting that the family impact is not limited to the primary carer. For the “witnesses”, often the grown or growing children of people who are symptomatic, it can feel very threatening to watch a loved one through what may be in the future for you. This is something that we don’t see in many other neurological conditions, despite their similarities they don’t have that sense of a future rehearsal for the generations in waiting.
New research
We are currently working on a significant Huntington’s neuropsychology project which will hopefully give us many more insights into managing this unique condition. Our goal is to understand the family system, and how the unique challenges they face affect their ability to interact with their broader environment and to empower families to get the support they need.
We are examining the specifics of how the disease develops, and looking in detail at how the symptoms affect people and how the family interacts.
It's a lengthy project and we are committed to working with the Huntington's Disease Association in Ireland to bring this to fruition. The long-term picture in Huntington's is exciting. There are many research prospects, in which the community is very invested. A disease-modifying treatment is surely a future option. We have a determined new generation coming through, more interconnected with social media, and perhaps more determined to bring conversations into the open.
I would hope that the healthcare community can respond. It can be very hard for professionals to understand the complexities of life with Huntington's when they may only encounter one family within their career, but I would urge my colleagues to spend time looking at the advocacy world and admiring the courage of this community. The Family Matters campaign that is a shared platform for the four charities across the United Kingdom and Ireland is inspiring, and informative.
– Dr Niall Pender is head of department of psychology and principal clinical neuropsychologist at Beaumont Hospital Dublin since 2003. He is associate professor in neuropsychology at Trinity College Dublin and honorary clinical associate professor at the Royal College of Surgeons in Ireland.