Huntington’s disease (HD) is a disorder of the brain, a neurodegenerative disease, which is caused by brain cells gradually dying. HD has a genetic cause, which means if you have the gene for the disease there is a 50% chance that you might pass it on to your children. There is a genetic test available for people who think that they might be at risk of developing HD. This is called a predictive test, because although it can tell you that you have the gene for HD, it won’t be able to tell you exactly how quickly or severe the symptoms will develop or when precisely you will get the disease.
HD is most commonly thought of as a disease that affects how people move, and people with HD do have problems with movement which affect their everyday lives. Movement problems often start gradually, perhaps with a shaky hand, a stumble or a fall and they then get progressively worse over time, causing uncontrolled shaking and jerking movements which affect the whole body, leading to significant physical disability and often the need for a wheelchair. If somebody has problems with their movement, as in HD, it is often very obvious, because you can clearly see their movement problems.
It is increasingly being recognised that before movement problems occur, people with HD can experience significant mental health problems, including; depression, irritability and apathy. You might think that if someone is diagnosed with a neurodegenerative disease, which decreases their life expectancy and has the potential to affect their children, then they may become depressed, irritable and anxious and to a certain extent this is true. Suicidal ideation and attempts are higher among people who have a family history of or have been diagnosed with HD. Although some people report that when they are given a diagnosis, they can feel a sense of closure that they now know what they have and can put a name to their condition.
Nevertheless, mental health problems in HD are a key problem, and although the importance of these is increasingly being recognised, more can be done to increase the awareness of mental health problems in HD.
A significant stigma is associated with HD, therefore increasing awareness of the condition is key to greater understanding and acceptance of the disease. Public engagement in open days, seminars and lectures is one way of increasing awareness, knowledge and therefore understanding.
However, because the disease has a stigma associated with it, and because events such as this often remind people of their condition, it can be hard to get patients and family members to engage. I strongly believe that we have a greater responsibility, to reach out further and make information available in easily accessible and innovative ways. The website HDBuzz does a great job of summarising HD research news in plain language and there are various organisations and individuals who use social media channels to promote HD research in easily accessible ways.
Communicating with HD patients, families and carers is key and tremendously important in scientific research. We are researching a condition that has a huge impact on families and having their input into research that will affect them is fundamental in design, developing and implementing the research that we conduct.
Dr.Emma Yhnell is the lead applicant on a post-doctoral research grant from the Jacque and Gloria Gossweiler Foundation. Her PhD research project was funded via a three-year Medical Research Council (MRC) Studentship