Dr. Niall Pender:

I thank the committee for inviting me to talk today about the provision of services for Huntington's disease. I have submitted a written document which is a bit long and from which I will provide the committee with highlights. As a neuropsychologist, I have worked directly with Huntington's disease patients for over 17 years from pre-symptomatic stages through their disease progression. I have sat with them at the late stage and end of life. It is impossible to overstate the devastating nature of this condition for patients and their unaffected families and friends.

The committee heard a little bit from Ms Patricia Towey a moment ago, but I would like to begin by restating a brief overview to set the context as to what Huntington's is. It is an inherited, progressive and incurable brain disease and it is due to an extended mutation in a gene inherited from an affected parent. Each child of an affected parent has a 50-50 chance of getting this disease. If one gets the gene, one will have the disease. While the specific features about the onset and speed of progression vary with the size of the genetic mutation that is inherited, most people develop symptoms in their 40s. Many will have had subtle difficulties prior to that stage. The disease progresses very steadily over approximately 20 years and in the last few years of life most patients will require 24-hour care. Unfortunately, most patients have witnessed their parents, aunts, uncles, cousins and siblings with the disease and in many cases will witness the horror themselves of seeing their own children diagnosed with it. Many, however, will not live to see their children symptomatic of the disease. Unaffected spouses and siblings bear the brunt of the burden of care with many spouses caring for their in-laws, their own spouses and, unfortunately, their own children. The burden is unsustainable and in many cases there are no support or community services for patients.

Huntington's disease is rare, but its prevalence is higher than motor neuron disease, with which members will be familiar from the recent ice bucket challenges. Patients live longer and have a greater burden of care as they live. Multiple family members are affected across several generations. Approximately 700 people are diagnosed in Ireland currently with Huntington's disease while hundreds more suffer its effects. HD is a devastating disease. It robs the individual of almost all aspects of the self and of dignity. Patients present with a triad of a movement disorder, psychiatric difficulties and cognitive impairment leading to dementia. The movement disorder results in uncontrollable muscle jerks and spasms in almost all muscle groups making it impossible for patients to continue to walk unaided, sit comfortably without injury or even to eat and function independently. Many suffer multiple choking episodes and death is due to aspiration pneumonia.

The psychiatric and cognitive difficulties limit education and occupation early in the disease and result in the need for frequent periods of care and support although little is available in Ireland. Patients suffer depression with high rates of suicide, psychosis and complex patterns of cognitive impairment which limit their capacity for independent living and place them at risk of homelessness. The disease results in significant weight loss, speech difficulties and reduced mobility. The rate of decline of the triad of symptoms varies within and between patients and, as such, the needs of patients differ at different points in time as the disease progresses. Mental capacity is affected due to the psychiatric and cognitive symptoms, which in turn affect the person's ability to make decisions on complex issues, increasing vulnerability.

For many, there is a hopelessness around Huntington's disease, but these patients bear their illness with such dignity that it is humbling. For many, the illness carries a stigma, and few HD patients will talk about their illness or campaign for funding. One rarely sees events or fundraising for HD and, as such, the HD community has no voice. We must ensure that we care for and help the most vulnerable people in our community in a dignified and appropriate manner. The standard of care in HD anywhere must be flexible; a responsive multidisciplinary team that can meet the needs of patients from diagnosis through the various manifestations of their illness. Such a team should provide care and support for unaffected family members and also have a basis of research.

There is no cure for Huntington's disease. The management of the disease requires the responsive treatment of symptoms as they arise. Patients require experienced and expert multidisciplinary team members. I worked with such a team in London and the benefits for patients and their families were immeasurable. Patients were treated in a timely manner by a fully accessible team and they built relationships with team members over many years before the need for hospitalisation and palliative care arose. Research is essential to understand the nature and course of this illness and there are a number of international trials underway. It has been very difficult recently for Irish patients to engage in these due in part to the lack of any centralised clinic and funding for the early stages of projects. In Beaumont Hospital, we have just signed up to the Enroll-HD project which is a new international observational trial that will accelerate development of therapies for HD. This should provide a great opportunity for patients.

We have no dedicated multidisciplinary team in Ireland and limited access to specialist knowledge. We have limited access to long-term care beds with expert knowledge. The model of care in the national ALS clinic in Beaumont run by Professor Hardiman is an excellent one which has greatly benefitted motor neuron patients who attend in terms of life expectancy, disease progression and quality of life. It stimulated a national register and long-scale longitudinal research. We have a limited clinic in Beaumont Hospital but it is falling far short of the needs of patients. It is provided out of existing resources and we have no separate funding for it. As a group, we would like to propose a model involving three centres based in Dublin, Cork and Galway, staffed by full multidisciplinary team members with ease of access from primary and secondary services. Patients require access to specialist late stage and palliative care and we envisage this all being undertaken in collaboration with the Huntington's Disease Association of Ireland. It would enable patients and their families to have quick access to facilities.

In summary, we need to provide services as a matter of urgency. Patients are struggling desperately and scrabbling for all the care they can get. It is not available in Ireland currently. We must meet the needs of patients at various stages of the disease and provide respite beds for their families and themselves. We need a dedicated late stage facility for the appropriate and dignified palliative care of these vulnerable patients.