Oireachtas Joint and Select Committees
Thursday, 15 January 2015
Joint Oireachtas Committee on Health and Children
Coping with Challenges of Huntington's Disease: Discussion
I remind members, witnesses and those in the public gallery to please ensure their mobile telephones are switched off for the duration of the meeting as they interfere with the broadcasting equipment.
Witnesses are protected by privilege in respect of their evidence to the committee. If witnesses are directed by the committee to cease giving evidence on a particular matter and they continue to do so, they are entitled thereafter only to a qualified privilege in respect of their evidence. Witnesses are directed that only evidence connected with the subject matter of the proceedings is to be given and they are asked to respect the parliamentary practice to the effect that, where possible, they should not criticise or make charges against any person or entity by name or in such a way as to make him, her or it identifiable. Members are reminded of the long-standing parliamentary practice to the effect that they should not comment on, criticise or make charges against any person outside the House or an official either by name or in such a way as to make him or her identifiable.
I welcome Ms Patricia Towey, information and services co-ordinator, and Ms Anne Lennon Bird, honorary president, Huntington's Disease Association of Ireland; Dr. Niall Pender, principal clinical neuropsychologist, head of department, Beaumont Hospital, and Dr. Jennifer Hoblyn, clinical director, Bloomfield Health Services.
Apologies have been received from Dr. Tim Counihan, consultant neurologist, University College Hospital Galway, who, because of the inclement weather, could not travel from Galway this morning. I think that was a wise decision.
I invite Ms Patricia Towey to make her opening statement which will be followed by a presentation from Dr. Niall Pender. I remind Ms Towey she has about seven minutes in which to make her presentation.
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.
Ms Patricia Towey:
Some services are developing for Huntington's Disease in Ireland and we are calling for those to be supported. These services include Beaumont Hospital's psychology clinic, Galway University Hospital's neurology service and Bloomfield Hospital's multidisciplinary team, mental health assessment service and long-term care. These are fledgling services for Huntingdon's disease. Our recommendations include sustained funding for the Huntington's Disease Association of Ireland, which is the sole provider of information and support on a national basis to those impacted by Huntington's Disease; establishing and developing services in existing sites in Dublin such as Beaumont and Bloomfield hospitals, Galway and Cork; clarifying funding streams to enhance urgently needed access to appropriate individualised care; developing evidence-based clinical pathways across regions in an equitable and transparent manner; securing long-term funding for individuals with HD to ensure access to all necessary services during their lifetime; supporting research and ensuring people in Ireland can participate in international HD research developments; and supporting a sustainable and accessible national genetic service.
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.
I joint the Vice Chairman in welcoming the panel this morning. We have a number of sessions here today, but the written and oral submissions Ms Towey and Dr. Pender have made have had a huge impact, certainly on me personally and, I have no doubt, on my colleagues on the committee. It does not take a great deal of analysis for us to realise just how devastating this diagnosis must be. All four panel witnesses by their respective contributions have made that abundantly clear.
There can be no question as to the need for the committee to reflect this directly to the Minister, the Department and the HSE. This is a diagnosis that could present in anyone's life. I note that Dr. Pender indicated that approximately 700 families are affected. Of course, with a 50% chance presenting, that could expand exponentially. There is no question about that. How many people are directly affected? How many people does that translate into? Forgive me for having returned a little late from the vote, but I did not hear the earlier part of Dr. Pender's presentation. Is it the case that the diagnosis is reflective of particular points in the development of life and age groupings? The manifestation of the symptoms is in later life, I understand, but Dr. Pender can correct me if I am wrong. The diagnosis can be made even though the symptoms have not yet presented. I do not want to cause any upset, but are there clusters in certain parts of the country and areas where the disease is more prevalent? If so, are there obvious explanations for this?
In relation to the work of the Huntington's Disease Association of Ireland, or HDAI, the health canvas is huge as we have noted already today. I can only imagine that the role of the HDAI is crucial in supporting these families and individuals.
I am concerned about the difficulties the HDAI may have in carrying out its work. Can Ms Towey tell me what is currently provided by State subvention and support? The association is the national resource centre for people impacted by Huntington's disease. Does it translate into a physical structure? Is there outreach work? Do people work in a centre? Can people go to a building or structure? I want to hear about a more expanded profile of the HDAI.
There are existing sites in Dublin, Cork and Galway and the association has proposed that these are developed in terms of multidisciplinary provision and supports. Can the delegation list areas that should be prioritised? Should neurology and psychology services be prioritised? Please give us a sense of the association's priorities. I appreciate that these things are required. I want the critical deficiencies at this moment in time identified and prioritised.
Does the HDAI have a corresponding organisation north of the Border? If so, what is the extent of its engagement with same? There are clinics or existing sites which offer support in Dublin, Galway and Cork. In terms of the rest of the island, is there a similar facility in Belfast? Is there more than one such facility? I am unaware of that detail. Is there any level of interaction, co-operation or supports that could be enhanced through greater co-operation between North and South? This committee will travel, in a short number of weeks, to meet its counterparts in the Northern Ireland Executive. That is why I want to learn what further impact we could make, not only here in this institution but to share it with elected colleagues, of all opinions, north of the Border.
I shall leave it at that. I sincerely thank the witnesses who came before us this morning to discuss Huntington's disease.
I thank the witnesses for their presentations and for the submissions they made in advance of the presentations. I know a family friend who has Huntington's disease. The case studies provided touched on the point raised by Dr. Pender, the fact that one rarely hears about fund-raising or awareness raising outside of the circles where Huntington's disease is present. Therefore, it is important we hear more about the illness because it will give us a greater insight. The case studies are based on real people but we still must hear them. The evidence provided is equally important.
I wish to ask questions on three areas. My first question is on the Huntington's Disease Association of Ireland. I note, from the submission, that the association is comprised of 1.5 full-time staff or whole-time equivalents. Any of us who have read these professional presentations and heard the evidence provided will be surprised by the number of staff. In terms of the number of families who seek support and the importance to raise awareness, where does the association currently get its funding from? Some funding comes from the Department of the Environment, Community and Local Government through the scheme to support national voluntary organisations. I apologise for the fact that the Department keeps changing the name of the scheme, which is an important one for community and voluntary organisations. The funding the association received through the scheme was cut last year and had to be re-instated for a two-year period. Equally, here we have talked about section 38 and section 39 organisations. When we hear the amount of funding provided we will all be shocked that there is not more State funding being spent considering the important work that is done by the organisation. It would be good for us to hear the amount. All too often we hear about large amounts of funding being spent. Unfortunately, the association has nowhere near enough funding and that is an issue we must raise.
When I read the submissions I tried to work out what recommendations the committee should make. During the short break earlier I conducted a small poll on the people in the Visitors Gallery. My understanding is that we should concentrate and co-ordinate our services into, as was suggested to me, Bloomfield Health Services or a multidisciplinary service. I asked people in the Visitors Gallery the question and now I shall ask the witnesses the same question. Normally, we hear how important it is to access services locally. I understand, which I want confirmed, that people are willing to travel if they knew a multidisciplinary team and supports were available. Therefore, we should recommend that the State invests in these types of services. I want to be sure about the matter. If the committee agrees on points we need to know when we will be supported. I do not have a constituency but my colleagues do and support is an issue that can arise.
Is a genetic unit planned for the new children's hospital? Have the witnesses been involved in scoping or a needs assessment? I assume the new children's hospital will include such a unit but perhaps I am wrong. It is an important issue. This committee visited the site of the national children's hospital and we plan to continue to engage in discussions about the hospital. What recommendations should the committee make about the children's hospital and specifically about a genetics unit?
I thank the witnesses for coming here to deal with this issue. Both presentations referred to a need to develop a facility in Cork. Has a consultation or discussion taken place? There are three hospitals in Cork city. Has a suitable unit been identified to deal with this matter on a long-term basis? Is a new unit just a proposal and no discussion has taken place? Can the proposal be advanced? How can we advance the matter?
I wish to mention research. I note that Dr. Pender mentioned that Beaumont Hospital has signed up to the Enroll-HD research programme. How can this committee ensure we benefit from such research? How can we ensure Ireland becomes involved in the research? If Ireland is involved in research then we can benefit from the results in the long term. What deficiencies prevent us from getting involved in research? How can we resolve the matter?
Access to medical cards is of major importance to families. What recommendation can this committee make that will assist families who need medical assistance? A diagnosis of Huntington's disease does not go away because a person has it for life. Therefore, it is very important that people have unlimited access to services and a medical card can give assistance in this regard. What can this committee do to help the situation? We are talking about 700 people which is a big number in real terms but not in the context of the overall cost of over 1.9 million medical cards. The committee could make a recommendation. I ask the witnesses to let us know how we can assist them in dealing with the issue.
I apologise for not being here for the beginning of the presentation.
My queries relates to the 700 people that were mentioned. Senator Colm Burke has already asked a question on research and what the committee can do to pursue the matter.
I have only met one person with the disease. She was a very young girl and it was difficult to see the type of life she had. The Senator and I, along with many members here, will fondly remember our two colleagues, Deputy Nicky McFadden and Councillor Mary Harty.
Mary was a councillor and Nicky a Member of Dáil Éireann, and motor neuron disease had an enormous effect on their lives and that of their families. I have only met one person with Huntington's disease, whose whole life fell apart in a very short space of time.
The witnesses have said that there is no dedicated team to deal with this, and I would like to know why that is the case. Is it because of a lack of funding or a lack of expertise on the part of medical personnel? Obviously people are being treated, not by a dedicated team, but through the mainstream health services. It seems that they are only getting the crumbs from the table.
I have no other questions. I agree with what Senator Burke said about the importance of research both here and abroad. If any comfort is to be given to people with Huntington's disease, it will come through research.
I welcome the witnesses and thank them for their presentations and submissions to this committee. I read through the submissions last night but it is important that we hear the real-life stories, because this is about real people in real situations.
A number of issues struck me, the first being the fact that when the disease is diagnosed in a family, it has an enormous knock-on effect down through the generations. It can affect families into the future in the context of securing mortgages and work and can change a family's whole lifestyle. I note that most of those who are diagnosed with the disease are cared for at home by family members. However, when it reaches a point at which the person needs to move into full-time care, there seems to be a real difficulty. In one of the stories, the wife of a sufferer was given a list of 40 nursing homes but only four of those could actually take a person with his particular care needs. That does not leave people with a whole pile of options.
I also noted the point made in one of the presentations today that patients in Ireland can be admitted to psychiatric hospitals due to being refused by other long-term care facilities. What are the reasons for that, other than a shortage of funding? Are the staff in psychiatric hospitals trained to provide for the other specific care needs of people with this disease?
Reference was made to clinical trials and the fact that 1,200 people are going to Europe to take part. We do not have anyone from Ireland going, nor do we have any special care units here. Is there any particular reason why Irish patients cannot participate in the trials? The witnesses made comparisons with Scotland, which has a similar population size. The Scots have seven dedicated HD clinics and nine HD specialist centres. The Scottish Huntington's Disease Association has a staff complement of 30, in comparison with 1.5 here. Is it the case that there are thousands of families in Scotland with Huntington's disease? Why are we so far behind?
Please accept my apologies for not being present at the beginning of the presentation. This is an extraordinarily cruel disease. The word "cruelty" repeatedly springs to mind. It is as if nature conspired to make something about as bad as it can be. One can only imagine the horror of most people on understanding that they have the disease and on seeing their future, both in terms of the genetic consequences and the actual physical decline. Being pessimistic about it, there is no huge optimism that in the short term there will be a great treatment for the disease. Hopefully there will be. I live in the world of research and one hopes that things will improve. We should support research and make sure it is available to our patients. We may or may not get a pay-off from doing research, but we could get a pay-off tomorrow from fixing the social supports for these people. About 90% of what can be palliated, theoretically, could be palliated if we had the will to do so. We are not waiting for anybody to discover something. All we basically need is to have enough support facilities for people who are in a phase of their illness which can be managed at home with augmented support, to give some degree of relief to their incredibly hard-pressed family members.
I ask that the witnesses quantify something for me, and I apologise if they have already done so during the course of their presentation. How many dedicated inpatient bed equivalent units do we need for people who are in the final stages of the disease, when it becomes very difficult for people, with the best will in the world, to look after a severely disabled, advanced HD patient at home? What would we need? How many beds would we need? I also ask the witnesses to give us a broad outline of a person's life expectancy after he or she becomes totally disabled and entirely dependent. What is the average length of the phase during which a person is exhibiting symptoms but can still maintain a fairly high degree of self-care? That would be very useful information to have. I have a suspicion that there are two very simple numbers here, one of which is how many beds or inpatient units we need and the other of which is how many extra carers we need so that people can get some respite during the phase of their lives when they are being cared for at home. I suspect that what is needed is not incredibly expensive. I can tell the committee one thing we could do tomorrow which would help, and I have raised this before. We can say that all those people with Huntington's disease will automatically get a medical card. I cannot understand why that is not the case now. I do not care how rich or how well-off these people are. Given the level of support they need, they should not have to worry about getting or losing a medical card. It is a very uncommon disease and such a measure would not impose a huge economic burden on society.
I thank the witnesses for the great work they are doing. I hope we will see advances in the treatment of this disease, but we must consider the worst-case scenario - maybe we will not. Finally, I have one more tougher question. Is there much prenatal testing being done in Ireland? Do we have adequate support services for people who may wish to explore the route of prenatal testing, with all of its implications?
I welcome the witnesses and thank them for their presentations and the documentation they submitted to us prior to this meeting. I am sorry that I could not be present for Dr. Pender's presentation this morning. Huntington's disease is obviously an incredibly difficult illness. Ms Towey made reference to a prevalence study, and I would like to know the current status of that study. Has it been completed or is it in progress? What is the timeframe for that? Ms Towey also mentioned funding for individual HD patients to access services. What types of service is she referring to? What types of service would typically be necessary for HD patients? Reference was also made to a national genetic service, and I ask the witnesses to expand a little on that.
My apologies for being absent for part of this meeting. We have not mastered the art of bilocation here yet. I have a number of questions and observations to make. I have received a number of e-mails from people with Huntington's disease and their family members. They are concerned about a number of issues. As Professor Crown has said, we must look at the worst-case scenario but also deal with where we are currently in terms of many of those with Huntington's disease. Speech and language therapy, physical and occupational therapy, neuropsychology and social work services are the key areas about which Huntington's disease patients and their families are concerned. Family members need supports. The patients themselves obviously need support, but their families also need a broad support base around them as well. Where are we in the context of developing individual care plans or pathways? Such plans are commonly espoused for people with rare diseases. Clinical care plans need to be put in place, particularly in the context of a lack of nursing homes that are capable of dealing with a person who has Huntington's disease. How far down that road are we at present?
People with Huntington's disease, motor neuron disease and many other neurological diseases cannot get medical cards until they are in the very final stages of a very debilitating illness. Clearly, we have to look at that. Reference was made to the fact that it places a very small burden on the State but a huge burden on a family. We must tip the balance in favour of the individuals and families concerned with these particular illnesses and diseases.
Reference has been made to genetic testing. Senator Crown mentioned how cruel the disease is. It is bad enough to have to deal with one's own illness, but there is also the issue of knowing it could be passed on to the next generation. Is genetic testing automatically provided to a family where there is a diagnosis of Huntington's disease? Is there a cost implication or is it always provided by the State? In the context of international research, it is often the case with rarer diseases that we will never have the capacity to do enough research here on our own. We do not have a large enough pool of people, enough clinical expertise or sufficient research facilities. How far down the road are we in terms of linking in internationally? We will meet the Commissioner next week, and I note this is an area where the European Union should play a greater role in driving medical research to ensure there is a link among researchers around Europe. Where are we in those terms?
For the organisation supporting people with Huntington's disease and their families, respite and social care are very important. If nothing else, today's session should suggest the importance of supporting family in terms of their immediate needs, including respite and medical cards.
Dr. Jennifer Hoblyn:
We do not have any national studies on prevalence yet. We have a study from the North - we were asked about links with the North - where Professor Morrison did the only one. We are extrapolating by saying there are 750 people and at least 2,000 at risk. We do not know yet, but we have to start somewhere. We are slowly beginning with our fledgling service to reach out to the community. Ms Towey is aware of at least 700 people, perhaps 450 of whom are active on her casebook. Together, we need to come up with a solution for developing a network and a database, and we can have people access services from there or tie into research. That is very important.
We were asked about clusters. There are definitely pedigrees. As Professor Crown knows, we have a great deal of inflammatory bowel disease and many other diseases in terms of which Ireland is unique, according to population studies. With Huntington's, we do not know yet. We hear of pedigrees and of areas of the country, but we are getting referrals from all over the country at the moment. We have been working very closely with the team up North, where a new neurologist started in April who has an interest in Huntington's disease and who moved from the Mater here. The team in the North has two clinical nurse specialists and we at Bloomfield are training one clinical nurse specialist in Huntington's disease. These are sorely needed to reach out into the community to support and work in conjunction with HDAI to get a sense of the network, where we are and what we can develop together.
Ms Patricia Towey:
A question was asked about linkages with the North. The Huntington's Disease Association in Northern Ireland has two people employed and two specialist nurses. There are some linkages. We had a joint youth group and a youth camp. It is very important to link people in at an early stage, as Dr. Pender noted. Having people connected through youth activities can keep them linked into a service and perhaps eliminate some fear for the future. Dr. Pender mentioned clinics he worked with where families were supported for years, and that is what needs to happen in Ireland, as people are often in denial due to the cognitive aspects of the condition and do not seek the services they need. They can alienate themselves from family members and it is important that they are linked in as soon as possible.
Northern Ireland had some funding to develop youth services and to look at needs in that regard. To compare, however, Scotland has three youth workers in place and the Scottish association has many specialist clinics. I do not necessarily think that there are clusters as such, but there is a remote part of Scotland where there is a higher prevalence of Huntington's disease. There is anecdotal suggestion, as Professor Morrison has mentioned, that people might have moved there from Donegal. A great deal of research on Huntington's came about initially because of clusters in Venezuela, and the gene was found on foot of that.
Ms Patricia Towey:
The Huntington's Disease Association of Ireland receives HSE funding. We received €68,000 in 2014, but our funding has been reduced by 15% since 2008, making it very difficult to plan services. We have a part-time family support officer and she tries to facilitate support groups in Cork, Limerick, the west of Ireland and Dublin. She provides one-to-one support for people and in particular seeks to meet people when there is a diagnosis in a family or where a person is going through the predictive testing process.
Diagnostic testing is where symptoms have already emerged, but people can choose to find out whether they have the gene. They will develop the condition if they have it. The figures suggest that one fifth of people end up getting a predictive test result, while some pull out because they realise they do not want to know. Until there is modifying treatment in place, some people feel it is a difficult burden to bear. There are instances of amazing people internationally who have the HD gene involving themselves in research. They are great advocates.
There was a question on collaboration, and I note that there is a great deal of collaboration internationally between family members and researchers and clinicians. That is what we need to see happen in Ireland. It needs to be supported in particular. The European Huntington's Disease Network and the Cure Huntington's Disease Initiative in the USA have done amazing work. An advantage in the HD community is that researchers know who is likely to get the condition, which means there is a possibility of looking for biomarkers that may develop in advance of the appearance of symptoms. If a treatment emerges, people could access it earlier than would be the case with other neurological conditions.
Dr. Jennifer Hoblyn:
In terms of collaboration, it will be fantastic now that we have an Enroll-HD site, if not two or three, here. We have also started to get some Irish members involved in the working groups. We are on the nurse-psychiatry group, the physiotherapy group and the cognitive psychology group. Slowly, as we get out there and meet our colleagues, including at the meeting in Paris in a few weeks' time, we hope to build networks and to get them to visit us. We have been visiting all around the place, but we had one young fellow visit us last year who was cycling across Europe as part of his effort to raise funds. It was amazing to see. We are just beginning.
Dr. Niall Pender:
There is a will. Most of the work with Huntington's disease patients in Ireland is done currently by way of goodwill among the people involved, including the clinicians. I still cannot understand how the Huntington's Disease Association does it on a day-and-a-half basis, as it is there for every patient we recommend to it. It is always there for people. Most of the services we provide in Beaumont are done through the goodwill of staff out of existing resources. People stay on late and come in early.
It is impossible to meet families affected by Huntington's disease and not be moved and want to help, but that only gets one so far. We need posts and people employed to provide the service. We need funding to set up a clinic where patients can see a dietician, a speech therapist and a physiotherapist who can look at their needs and monitor them as their disease stage changes. It will change at different rates. Sometimes a patient will need a psychiatric service, while at other times he or she will have movement issues, physical issues or dementia. In terms of the staging process, there will be many years when the patient will be well, depending on when he or she gets the gene tested. It is an astonishing burden to have to bear when, for example, one gets the genetic test in one's early 20s and is then waiting.
That in itself needs support for people who have to watch every twitch, fall and stumble, waiting for the disease to become apparent. After a test, a person may have five or ten years with emerging symptoms and maybe have another five years of care needs as their condition deteriorates. The life expectancy in care depends on the quality of the care. At the moment we do not have it. It is primitive and we need funding in this area.
We do not have a service in Cork. We suggest the best care model would be three clinics across the country, a model based on those in other jurisdictions. We are scrambling to get like-minded clinicians and others together while we get funding for posts and long-term care.
Dr. Jennifer Hoblyn:
I cannot tell the committee how many I have on my waiting list. Bloomfield is a fledgling service but I have a large number of referrals of people sitting in acute psychiatric hospitals across the country for two years. The number of misplaced young people in nursing homes is tragic. We need specialist services from multidisciplinary teams which understand what is going on. We need to educate by creating a training post in the College of Psychiatry and making it part of the SR, senior registrar, rotation. We are working with Crumlin hospital and its genetic counsellors are working with us. We need to have an integrated approach. From the time of diagnosis, we need to target cognitive, psychiatric, mood and anxiety treatments before anyone has any other symptomatology so they are aware of what is available. We need the whole spectrum all the way through to palliative care. It is very difficult to find anyone with expertise in the area of speech and language.
Ms Patricia Towey:
It was mentioned in the submission that people receive care when it is too late and their function has already deteriorated. A basic matter for Huntington’s’ disease sufferers is that they maintain their body weight as it can improve function. However, due to apathy and lack of initiation, many people are not capable of even managing that. That is why it is essential to get timely support and to have specialist clinics that can provide a reference point for other caregivers in the community, as well as providing a clinical care pathway so people can get the treatment they need when they need it. The long-term burden for family carers is extensive over generations. They also need specific support.
Dr. Niall Pender:
To put it in context, ten years ago the UK’s NHS, National Health Service, produced data on Huntington’s disease that showed 80% of consultations for the disease required a hospital admission, 48% of which were emergency. Ireland is probably much higher than that I suspect because by the time a person with Huntington’s gets to reach a specialist, the situation has already broken down and they will need to be admitted for an exceptionally long time. In Beaumont Hospital we have a number of people with Huntington’s disease waiting for placements for an extensive period of time. They do not need to be in an acute hospital but in a care environment. It is holding up the system all the way down and is not the right place for a person with a progressive neurodegenerative disease.
Ms Patricia Towey:
We received calls from two family members this week about not being able to get respite care in the Dublin area. Some of the beds in respite care facilities are being closed down or being made available for emergency releases due to back-ups in hospitals. That has a direct influence on people getting respite care in the community.
Dr. Jennifer Hoblyn:
The biggest problem is there is no direct funding stream for us coming from disability services or long-stay or acute psychiatric services. There is no taking patients from acute medical beds where they have been languishing for months on end. With what is going on in our hospitals now, it would be much better if there were a central co-ordination of services for people with Huntington’s disease rather than their families having to fight for funding and so forth. It would be better to start the work earlier, get people with Huntington’s into care services and connected before they need long-term care.
Is there a rough sense of how many patients there are in the entirely dependent stage of their management and where institutional care would be a reasonable option for them if home care were not available? Society should make the commitment to ensure someone was not asked to look after a family member without State support. Many of the carers in question may have other dependants at home too. What do we need to do to reduce this burden?
Where are we at with prenatal testing for Huntington’s disease?
Dr. Pender indicated there is no service for Huntington’s disease sufferers in Cork. Is there a service in Galway? What services exist in Dublin apart from Beaumont and Bloomfield? I take it there is no building for the association either.
Ms Patricia Towey:
Yes, we do have a national office at the Carmichael Centre for Voluntary Groups which is a shared-service facility. Our family support officer tries to do outreach work in the greater Dublin area. There is a drop-in centre for people if they want to call to the office for information. We provide regional counselling and an annual respite weekend which is a good opportunity for family members to meet each other in a more informal environment to share coping strategies. We provide counselling for people diagnosed with the disease or going through testing for it. This is sourced through accredited psychotherapists.
Dr. Niall Pender:
There are no formal structured services. We have great clinicians doing work in their general clinics. Patients will turn up to neurology and psychiatry clinics to be seen with other patients. We do not, however, have a specialist dedicated Huntington’s disease clinic like we would have for motor neurone disease. Beaumont Hospital has put together a cognitive behavioural clinic to manage the behavioural cognitive piece with colleagues in psychiatry and neurology. Huntington’s patients need a more focused, dedicated team-based approach with clinicians who can develop expertise in treating it, however. There is a will and enthusiasm to set up such teams but there is no structure in place to facilitate that.
Dr. Jennifer Hoblyn:
Bloomfield has opened a small long-stay unit which has ten patients. I have a long list of other patients that I am assessing. I have also started a 16-week multidisciplinary assessment programme where we take people from around the country to work together with the families to see what are the best supports we can provide locally. However, there is no infrastructure there for the community occupational therapists, SALT, speech and language therapy, neurology and so forth to work closely together.
Dr. Jennifer Hoblyn:
Yes, and 70% of people with family history of frontal lobe dementia will get tested and get results. There is a huge stigma attached to Huntington's disease. If one applies for insurance or a mortgage, one is asked whether one or any member of one's family has Huntington's disease, Parkinson's disease or multiple sclerosis, MS. As there is a huge stigma, people do not wish to come forward.
I thank the witnesses for their attendance and for facilitating such an informative discussion. I note rare disease day is coming up at the end of February. The joint committee spoke about it at one of its earlier meetings and we hope to hold a meeting to mark that day on 26 February. However, given the fact that Huntingdon's disease is a rare disease, has very little support and has no dedicated service, the joint committee may make some recommendations to the Minister on foot of this presentation. We may present it to him, in consideration of rare disease day in February, to give it some status and to mark it out.
I also suggest the joint committee should write formally to the medical card centre to the effect that when someone is identified as having Huntington's disease, it should not be a long drawn-out process, as it is not a disease that goes away.
I thank the Senator. I thank the witnesses for their time and will forward to them a copy of the correspondence the joint committee will send to the Minister on their behalf.
We will suspend the meeting shortly to facilitate the Minister and the other speakers to come in for the third part of the meeting.