Huntington’s Disease (HD) has been around for years but the stigma surrounding it means that sufferers and their families are less inclined to speak openly about this incurable illness.
In the nineteenth century, people with chorea were mistakenly believed to have been possessed by the devil, owing to the involuntary muscle jerks and twitches characteristic of HD.
A reluctance to talk about the subject lingers to date, prompting the campaign ‘Hidden No More’, as well as inciting Pope Francis to speak out on the matter in a TED Talk earlier this year.
When the HD gene was discovered in 1993 there was great excitement for potential cures around the corner. However, none have been found to date and it is believed that a discomfort in speaking openly on the matter is part of the cause.
Huntington’s Disease Association of Ireland (HDAI) has criticised the lack of prevalence studies or clinical trials in Ireland explaining that, although Dr Niall Pender has set up an Enroll-HD study at Beaumont Hospital, there are currently insufficient resources and capacity. They believe that a dedicated clinic or specialist service is necessary to tend to the estimated 750 people with HD, and over 3000 at risk, in the Republic of Ireland.
For Enroll to work, patients and family members participate but anonymity is a big concern among HD families. Dr Pender, Principal Clinical Neuropsychologist and Head of Department in Beaumont Hospital, alluded to the difficulties that insurance can pose on HD research, stating that people are not inclined to go public about having HD in their family as it could cause their health insurance to skyrocket.
He went on to outline how the issue is something of a vicious circle, as those who would benefit from trials are difficult to engage and the less numbers they have, the less likely it is that funding will be given to studies into HD.
Families also face complications when applying for medical cards because people with HD are not automatically eligible but must undergo an initial means test.
The HDAI informed IMN: “Some have to go through an appeal process and a lot of unnecessary hassle to prove the ‘burden of the illness’. Even when HD patients get a medical card it only lasts two to three years and has to be inexplicably applied for again with the onus on family carers to provide updated medical and financial information. The disease is progressive and incurable currently so patients are realistically not going to get better.
“Patients who don’t have family caregivers to apply on their behalf, some even isolate themselves from family as a result of behaviour and personality changes, are unlikely to have the cognitive skills and perseverance to go through the application process”.
Dr Niall Pender explained that part of the lack of awareness of HD is due to its rarity. “There is low funding for neurological conditions in Ireland in general but for HD, it’s even worse. Less people have it so it’s not going to draw that same level of attention, although it is similar to Motor Neurone Disease which you hear about much more frequently.
“Another factor is that patients aren’t particularly strong advocates, it is not always a well understood condition, the mental health problems that can occur even led patients to be diagnosed with chronic psychiatric disorders, a diagnosis which I suppose can carry with it a certain stigma. Also, its affect on a patient’s movement leads to a twitching and writhing that can make someone with HD appear drunk. This embarrassment element feeds a reluctance to talk about the condition.
“That’s why it was a big deal to get a big public figure, such as Pope Francis, to speak out about HD. It’s a very serious problem in South America and, while you don’t see discrimination to the same extent in Ireland, you still don’t exactly see people running marathons in the name of Huntington’s”.
Dr Pender praised the global efforts to improve treatments for HD, saying that it was important to share data internationally because the condition is so rare. “There is huge international co-operation. We have Enroll in Beaumont but more involvement is necessary to create strong longitudinal data”.
“I would say that Ireland is falling behind in terms of care, we have the expertise but unfortunately not the funding. What we need is a national motor disability centre to develop research, patients have been proven to perform better in such places dedicated to specific care.
“There is no support, no national centre and very few services available for people with HD. The HDAI are doing their utmost but at the end of the day, they are a very small organisation”.
The HDAI acknowledged the work in Bloomfield Hospital, Rathfarnham, where a specialist residential multi–disciplinary service for people with HD who can no longer live independently is offered.
They commented: “Unfortunately many people can’t get funding to avail of this specialist service and have no option but inappropriate nursing homes, where they have little or no access to physio or speech and language therapists, to dieticians or to peers of a similar age”.