Ms Patricia Towey:

I thank the committee for the invitation to appear before it to discuss Huntington's Disease. Huntington's Disease is a genetic neurodegenerative life-limiting condition that leads to progressive physical, cognitive and emotional symptoms. Each child of a parent with the HD gene has a 50% chance of inheriting the condition. It usually presents between the ages of 30 and 50 years and can cause serious psycho-social consequences for affected families. It can impact inter-personal relationships, parenting, family planning, employment, future health and well being, and access to insurance and mortgages.

Juvenile Huntington's disease may occur in 10% of cases, with onset before 20 years of age. A Huntington's Disease Association of Ireland member and family carer described HD as, "A combination of Alzheimer’s disease and motor neuron disease with the added horror of transmitting the disease to your children".

There are often complicated dynamics within HD families. Emotions such as anger, resentment and guilt are often seen along with a high level of care, commitment and resilience. For a significant period of the person’s life, family members are the main care givers. I will read some case studies to display the scenario of Huntington's disease among families.

Anna is 67 years old. She was a carer to her husband for ten years before he needed full-time nursing home care in 2007. She is his next of kin and regularly visits and cares for him in his nursing home. Her two twin adult children who in their thirties are now also symptomatic. One has moved back to the family home and is currently being cared for by Anna. The other has been in a psychiatric hospital for almost two years. An acute psychiatric hospital is an inappropriate environment long term but funding for suitable long-term care at Bloomfield Hospital has been refused. Other long-term care facilities have so far refused to accept this patient due to her complex symptoms.

Tony is 68 years old. His mood and personality began to change in his early fifties. He and his family spent seven difficult years not knowing what was causing these changes until he was eventually diagnosed with HD. Four of his five children went through the predictive testing process and all four tested positive for the HD gene. His four children will therefore develop HD unless a suitable treatment is available in time. He has a fifth child and six grandchildren with a 50% risk of developing HD. That is the uniqueness of Huntingdon's disease. It goes through families and generations of families.

There are a number of gaps in existing services. The major issue is an urgent need for prevalence studies in Ireland so that services may be planned in an accurate manner. People have difficulty getting medical cards. HD symptoms including apathy and lack of initiation can prevent some HD patients from filling out application forms. Genetic services is an area of concern. We are concerned that the change in designation of the National Centre for Medical Genetics will have an impact on adult genetic testing and on regional services in Cork, Galway and Limerick.

Turning to mental health services, general adult psychiatry teams are often ill-equipped to provide specialist services to those impacted by HD. Specialist education and clinical mental health support programs are needed for medical and allied health professionals. Bloomfield Health Services have developed multidisciplinary experience and expertise in caring for those with HD and they provide a range of necessary mental health services.

With regard to neurology and neuro-rehabilitation services, currently the majority of people with HD do not receive timely referrals to rehabilitation therapists. Often referrals come too late when function has already significantly deteriorated and the complexities of neuro-psychiatric and cognitive symptoms have alienated people from their loved ones.

With regard to care services, ideally people with HD will remain in their own home for as long as possible. However, this is dependent on comprehensive home care supports, respite care, community rehabilitation, specialist mental health services and palliative care support.