Presentation to the Oireachtas Joint Committee on Health and Children
Ms. Patricia Towey, Information and Services Coordinator,
Huntington’s Disease Association of Ireland
15 January 2015
Thank you for inviting HDAI here today to discuss issues of concern for the HD community.
Huntington’s Disease (HD) is a life-limiting genetic neurodegenerative condition that leads
to progressive physical, cognitive and emotional symptoms
Physical / Motor
Cognitive
Psychiatric
Impaired speech
Poor judgement
Depression
Weight loss
Loss of Initiative, apathy and Anxiety
mental flexibility
Involuntary movements
Loss of organisation skills
Difficulty swallowing
Changes in empathy and Panic disorder
understanding
Continence issues
Concentration problems
Compulsions
Psychosis (rarer)
Each child of a parent with the HD gene has a 50% chance of inheriting the condition.
HD usually presents between the age of 30 – 50 years. It can cause serious psycho-social
consequences for affected families. It can impact: inter-personal relationships, parenting,
family planning, employment, financial resources, future health and wellbeing, increased
suicidal ideation, caring for a loved one and genetic discrimination. People with HD may also
be prone to addiction, debt problems and homelessness.
Juvenile HD may occur in 10% of cases, with onset before 20 years of age.
A HDAI 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 caregivers.
Anna is 67 years old. She was a carer to her husband for 10 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 (in their 30’s) 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 2 years. An acute psychiatric hospital is a stressful
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 7 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 6 grandchildren
with a 50% risk of developing HD.
Gaps in Existing Services
There is an urgent need for prevalence studies in Ireland so that services may be planned in
an accurate manner.
Access to Medical Cards - symptoms including apathy and lack of initiation can prevent
some HD patients from access to a medical card or appropriate benefits
Genetic Services – Predictive testing for those at risk, is currently provided free of charge on
a national basis. HDAI are concerned that the recent 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
Mental Health services - General Adult Psychiatry teams are often ill equipped to provide
specialist services to individuals with HD, their caregivers and family members. 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 requiring assessment/short-term/long-term mental health services,
nursing home and palliative care and accept nationwide referrals
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, has alienated people from their loved ones.
Care Services
Ideally people with HD will remain in their own home for as long as possible. This is
dependent on comprehensive home care supports, respite care, community rehabilitation
and specialist mental health services.
There is a dearth of suitable long term care facilities for people with HD under 65 years.
Many nursing homes find it difficult to cope with the complex needs of HD patients.
Currently Bloomfield offer the only specialised service for those with HD requiring long term
MDT. The Fair Deal scheme does not cover high dependency care and is punitive for
families where the spouse/partner is in employment. Disability or Mental Health funding is
very difficult to access.
Huntington’s Disease Association of Ireland
Huntington’s Disease Association of Ireland (HDAI) is a national voluntary organisation,
dependent on statutory funding, providing information, support and advocacy to those
diagnosed with Huntington’s Disease (HD), those at risk, their families and their health and
social care teams. Ongoing concerns about maintaining funding streams contribute to
additional stress and uncertainty for those in the already under resourced service.
Information and support reduces isolation and stress for the patient, their carers and family
members at risk. Peer support encourages people to share coping strategies and practical
information on care. Tackling discrimination will increase awareness, reduce stigma and
empower people to utilise health services to manage their condition, to take an active part
in research and ultimately achieve improved health outcomes for themselves and the HD
community.
HD multidisciplinary clinics and services
Currently developing services include:
1) Beaumont hospital Psychology Clinic
2) Galway University Hospital Neurology service
3) Bloomfield Hospital MDT Mental Health assessment services and long term care
The above services are restricted in scope and practice due to funding and resource
limitations. HDAI and the above services are all calling for the further establishment and/ or
development of 3 HD Specialist regional Clinics at Dublin, Cork and Galway.
Specialist Clinics should provide:
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Comprehensive assessments for people with HD
Increased expertise among professionals
A reference point for community care practitioners working with HD patients
Co-ordinated care and transition between necessary services
Involvement of family members and carers
Support for research activity
Scotland, with a similar population to Ireland have 7 dedicated HD Clinics, 9 HD Specialist
centres and the Scottish HD Association has a staff complement of 30. In comparison, HDAI
has 1.5 Whole Time Equivalents.
Research
Research efforts are just beginning here and must be supported and encouraged. Ireland is
lagging behind most European countries who have European Huntington’s Disease Network
(EHDN) study sites in existence for many years. Up to 1200 individuals with HD will be
enrolled in clinical trials in 2015 across Europe, but individuals in Ireland will not have
access. It is vital to establish study sites here so that Irish people can participate in
international studies and future clinical trials. The first gene silencing clinical trial for people
with HD will commence in 2015. The lead investigator is Prof Sarah Tabrizi, University
College London.
Enroll-HD is a global multi-centre longitudinal observational study of Huntington’s disease.
The goal of Enroll-HD is to facilitate the development of a potential research registry and,
hence, potential clinical trials for HD.
Dr Pender is working with the European HD Network to establish a site in Beaumont
Hospital. As in other European countries several sites should be developed. Sufficient
resources are required to provide HD family members who wish to register for Enroll-HD
with necessary emotional and psychological support.
Recommendations:
Immediate Needs
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Secure the financial future of HDAI in its role as the national resource centre for
people impacted by HD
Establish and or further development of services in existing sites: Dublin
(Beaumont, Bloomfield), Galway and Cork
Clarify funding streams to enhance urgently needed access to appropriate
individualised care
Long-term Needs
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Develop and clarify evidenced based clinical pathways across regions in an equitable
transparent manner
Secure the long term funding for the individual with HD, to ensure access to all
necessary services during their lifetime including palliative services
Support Research - Ensure people in Ireland can participate in international HD
research developments
Support a sustainable accessible national genetic services
Thank you
Patricia Towey
Information and Services Coordinator
Huntington’s Disease Association of Ireland
Carmichael Centre, North Brunswick Street, Dublin 7
Tel: (01) 872 1303,
www.huntingtons.ie