We talked to Cath Stanley, the CEO of the Huntington’s Disease Association. The charity offers support to those affected by Huntington’s, as well as carers and healthcare professionals, to ensure patients get the best care available.

FLG: What is Huntington’s disease and What Are the Symptoms?

CS: Huntington’s disease is a rare genetic disorder. It is not something you can catch; it is inherited. Every child conceived naturally to a parent who carries the Huntington’s gene has a 50% chance of inheriting it. A genetic test can find out if you have the faulty gene. You can live with the faulty gene for years without symptoms, but if you do have it, at some stage you will develop symptoms. Doctors cannot tell you when this will be.

Huntington’s progresses slowly over fifteen years and causes a gradual deterioration in health. It affects people’s cognitive abilities including their thinking processes, emotional ability and mental health. The disease also makes people physically disabled. This starts with involuntary movements in the early stages of the disease, these are called chorea or choreic movements, but as it progresses people eventually become bed bound unable and to speak or swallow.

Although there is, as yet, no cure, patients can learn to manage symptoms more effectively to improve their quality of life.

FLG: What Support Does the Huntington’s Disease Association Offer to People with the Disease and Their Carers?

CS: The Huntington’s Disease Association (HDA) has a very comprehensive website with lots of information and resources about the disease. Patients can use the website to get support and learn how to manage their illness. We also provide information leaflets and guides to families and professionals, along with a team of specialist Huntington’s advisors who work within the community supporting families. As Huntington’s is quite a rare illness we do a lot of education and training for healthcare professionals, to enable them to better understand the illness and help them in their jobs.

Our training and education programmes are important because most healthcare professionals that come into contact with a person with Huntington’s disease will have never cared for or supported anyone with the illness before. Therefore, we provide comprehensive training for healthcare professionals, which is key to ensuring people have good quality care.

 FLG: How Did you Get Involved with the HDA?

CS: I was a nurse working for Marie Curie in a Liverpool Hospice. Marie Curie is an organisation that provides care and support to people with terminal illnesses, particularly cancer. At the hospital we had two young people with Juvenile onset Huntington’s disease, who by the time they came to us were in their early twenties. It really hit me that if I was discharging a young person with cancer into the community then they had lots of resources available to them. But for these two young people there were only limited resources available, which didn’t feel fair. So when the opportunity came up with the Huntington’s Disease Association I applied and here I am!

FLG: What are the Most Important Research Breakthroughs Happening in Huntington’s Disease right Now?

CS: There are lots of exciting research trials looking at reducing the levels of the faulty protein that damages neurons in the brain and causes Huntington’s. A recent trial with a new experimental drug, called antisense nucleotides, showed promising results. The aim of Huntington’s treatments would be to delay the onset of symptoms or stop the onset of symptoms altogether. We are a long way from that but that’s the exciting research that’s happening now.

FLG: What Should People Consider Before Deciding to Get Tested for Huntington’s Disease?

CS: Having the genetic test for Huntington’s is very much an individual’s choice. The person who is at risk for Huntington’s should make that choice and not be pressured into it by anyone else. People usually have to be 18 before they can undertake a predictive test and they have a series of counselling sessions before the test is carried out. There are lots of people at risk of Huntington’s who choose not to have the test because they feel it doesn’t give them anything and they’d rather live with the uncertainty than know either way. The person really needs to be sure that they want to have the test and that they can deal with the results of the test whatever the consequences are. It’s also important that they’ve got good support mechanisms in place.

FLG: How Does the HDA Work with Patients and Carers to Inform the Work of the Organisation?

CS: We have a patient participant involvement group that view any of the work that we are doing. This includes our patient resources.  This means we can carry out the work that is most relevant to people affected by Huntington’s.

HD voice are a group of people who are either at risk of Huntington’s, have Huntington’s or are carers. We use them as a sounding board for any projects that we might want to undertake. This could include guidance on producing new patient resources or deciding if we want to be involved in new research projects. For anything that we do, it will always be the patient community that we turn to and get back their feedback from.

FLG: Why is it so Important to Listen to the Patient Community?

CS: Fundamentally they’re the people who are living with the illness and understand the day to day challenge of having Huntington’s disease themselves or having it in the family. Therefore, it’s important that we are listening to what they are saying and react to it.

FLG: What is Next for the Huntington’s Disease Association?

CS: An exciting project, that we are in the process of running a pilot on, is setting up an accredited nursing home scheme. One of the things families say to us is that it is very difficult to find an appropriate placement for people with Huntington’s because of the complexity and rarity of the illness.  We’ve been running a pilot scheme with two particular nursing home providers. We are working with them to set certain standards for the care of someone with Huntington’s that care providers have to meet in order for us to register them as being a specialist in Huntington’s nursing home. It’s really exciting and although we are not at the point of launching it yet, I think potentially this could be a huge benefit for families.

Right now I think that it’s a time of uncertainty, but in a positive way. At the moment our focus is supporting individuals and families who are at risk of or have Huntington’s. However, if any research trials do prove to be successful and lead to an effective treatment for Huntington’s then our emphasis would change. We would work to ensure that that the people who are eligible to receive the treatment know about it and have access to it. We would also campaign to make sure the treatment is made available and cost is not a barrier. Our emphasis as an organisation therefore depends on what happens in the research world.

If you or someone you know is affected by Huntington’s, please visit the Huntington’s Disease Association website to access support. If you wish to support the Huntington’s Disease Association through volunteering, fundraising, awareness or donation visit here.