Oireachtas Joint and Select Committees

Thursday, 27 February 2014

Joint Oireachtas Committee on Health and Children

Rare Diseases Day: Discussion

9:30 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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We are in public session. I remind members, witnesses and those in the Gallery of the need to switch off their mobile phones completely. This is because they interfere with the broadcasting and recording of proceedings. It is unfair to members of staff and those watching at home to be obliged to listen to interference on sound.

I congratulate the European Parliament on the vote which took place there yesterday in respect of the tobacco products directive. The Parliament has made a very significant decision, which builds on the work this committee has done and which reflects the decision taken by the Minister for Health during his Presidency of the European Council of Health Ministers. I compliment both the European Parliament and the Minister on the decision taken yesterday. I also thank the members of this committee for the work they did during our hearings on the tobacco industry and in respect of the plain packaging of tobacco products.

As members are aware, tomorrow is both the last day of February and Rare Diseases Day. As part of the initiative taken by this committee on behalf of all Irish citizens, and as originally proposed by Deputy Ó Caoláin, we have held a number of rare diseases information and awareness sessions as part of our work programme. We are very happy to continue that process at this meeting. Members will receive an in-depth briefing on the issues which arise in Ireland in the context of various rare diseases from groups which deal with them. I am aware that the groups represented at this meeting held a significant briefing session in the Mansion House yesterday and that a public awareness day will take place tomorrow in Belfast. It is appropriate that the committee is both facilitating and hosting this meeting as part of its work programme. I take this opportunity to welcome our guests, Ms Anne Lawlor, information and development officer with the Genetic and Rare Disorders Organisation, Dr. Seán Ennis, direct of UCD's Academic Centre on Rare Diseases, Professor Eileen Treacy, Ms Lorraine Dempsey, Mr. Declan McPhillips and Mr. Philip Watt. I also welcome the host of interested individuals who are present in the Gallery.

I take this opportunity to note that I have received apologies from Deputies Eamonn Maloney, Robert Dowds, Regina Doherty, Mary Mitchell O'Connor and Catherine Byrne and Senators Imelda Henry and Marc MacSharry.

I remind witnesses that they are protected by absolute privilege in respect of the evidence they give to the committee. If, however, they are directed by the committee to cease giving evidence in respect of a particular matter and continue to do so, they will be entitled thereafter only to qualified privilege in respect of their evidence.

They are directed that only evidence connected with the subject matter of these proceedings is to be given and are asked to respect the parliamentary practice to the effect that, where possible, they should not criticise or make charges against a person or persons or an 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 a person or persons outside the Houses or an official by name or in such a way as to make him or her identifiable.

I now call on Ms Lawlor to make her opening remarks.

9:35 am

Ms Anne Lawlor:

On behalf of the Genetic and Rare Disorders Organisation, the national alliance for people affected by rare diseases in Ireland, I thank the committee for giving us the opportunity to make a presentation to it on the occasion of International Rare Diseases Day 2014. My name is Anne Lawlor and I am the only employee of the Genetic and Rare Disorders Organisation. I work 15 hours a week to facilitate queries and provide signposts to organisations and individuals that can assist the many callers with existing rare conditions or those who are newly diagnosed and who do not know where to turn. I am also a patient representative. I am the parent of a young woman who is affected by a rare condition, 22q11 deletion syndrome. This is a chromosomal deletion syndrome and I helped to co-found the support group relating to it some seven years ago. At that time, there was no information or support available to me. I hope to provide the committee with a background on the issue of rare diseases, particularly in the context of the impact of such diseases on families and the work that has been done in the past couple of years to improve the situation.

A rare disease is defined by the EU as a condition that affects fewer than five in 10,000 people or 0.05% of the population. Although precise data on rare disease prevalence have not been collected in Ireland, the Department of Health recognises that between 6% and 8% of the population could be affected by a rare condition. This is based on estimates by the European Union Committee of Experts on Rare Diseases, EUCERD. Approximately 80% of rare diseases are genetic in origin and most are life threatening or associated with significant disability, including intellectual disability. Between 50% and 75% of rare conditions affect children and it is estimated that 30% of these children die before the age of five. It is accepted that there may be a higher prevalence of rare diseases in Ireland due to our history of being a small island nation with a greater degree of genetic interaction. Taking a percentile of 6% to 8% into account, alongside the figures from the 2011 census, as many as 350,000 citizens of Ireland could be affected by a rare condition during their lifetimes. This would represent by far the largest patient constituency in the country. However, rare diseases are largely ignored and misunderstood. According to the European database on rare diseases, Orphanet, approximately five new conditions are described each week. This is due, in part, to new technology which can identify rare conditions.

With up to 8,000 rare diseases described, the impact is wide and varied. Some people are affected by conditions which are life limiting and for which there is no treatment. Others are diagnosed as infants with a condition that they will grow up with but not out of. Children and young adults are diagnosed with conditions that are complex in nature and associated with physical, sensory, intellectual, social, emotional and genetic consequences. Some of them also develop mental health problems. When a person is diagnosed with a rare condition, the impact on the entire family is enormous. A diagnosis often goes beyond the immediate symptoms experienced by the person affected and can have effects on the family unit. This is particularly true in the case of rare diseases due to the high genetic risk of the condition. In many cases a diagnosis leads to the development of financial and psychological issues. Many rare diseases require multidisciplinary approaches involving a range of services at each stage of the affected person's life.

Due to their complexity, rare conditions can be difficult to manage and those affected can encounter enormous difficulties in finding adequate treatment. People with rare conditions are often unable to participate in work or education or else their ability to do so is quite limited. Learning disabilities can add to their difficulties with education. For a significant proportion whose condition does not affect their ability to participate, however, it is the lack of support which excludes them from education and employment opportunities. This is a critical issue for members of Genetic and Rare Disorders Organisation. It is also acknowledged that many restrictions and difficulties are encountered with regard to the provision of many types of insurance - including life, motor and medical insurance - as well as problems in acquiring mortgages for people with genetic and rare diseases.

Although there has been some progress with better communication between patient groups and specialists in the medical field, it remains the case that those who have received an accurate diagnosis are considered fortunate. Patients and families affected by rare diseases can wait years for a correct diagnosis and the number who have received an incorrect diagnosis before the final one is made is too high. Delays in diagnosis have serious implications for both life expectancy and quality of life and are leading to inefficient use of already overstretched resources. In 2011 a survey by the Genetic and Rare Disorders Organisation showed that 13.3% of people waited over ten years for a diagnosis and that 37.2% received an incorrect initial diagnosis. Any delay in diagnosis or misdiagnosis can result in multiple and unnecessary appointments with doctors and consultants, incorrect treatments and diagnostic tests and, of course, significant distress. Diagnostic experiences for patients vary greatly and there are many questions concerning equity of access and fair treatment, depending on where one lives in the country. The lack of awareness of rare conditions among health care professionals, including family GPs, is of concern to the Genetic and Rare Disorders Organisation's members, who have highlighted the fact that in the case of paediatrics the parents are the experts who inform the health care professionals. The delay for a genetic test at the National Centre for Medical Genetics is in excess of 15 months and samples continue to be sent abroad, costing the Government in the region of €1.5 million per annum.

When we previously presented to the committee in February 2012, our main concern was the lack of a central point of information for patients or medical professionals in the field of rare diseases. We demonstrated that in certain areas where patient groups exist, information flows and awareness is greater. However, thousands of patients have no group to represent them or inform the medical professionals on their conditions. They feel lost and marginalised and are becoming increasingly desperate. The Genetic and Rare Disorders Organisation is represented on the national steering committee at the Department of Health. The latter is working with stakeholders on the development of a national plan. The issue of a national office for rare diseases has emerged as a key recommendation. This was also one of the key needs to come out of the consultation process on the development of a national plan at a meeting of stakeholders on 11 June 2012 and the associated online consultation that followed. It is proposed that the rare diseases office would assist with and support epidemiological research and population studies in rare disorders with partners - principal among which would be the Health Research Board, HRB, the Medical Research Charities Group, MRCG, the Department of Health, Institute of Public Health, etc. - and over time consolidate access to all known rare disease registries and incorporate the relevant information into the Orphanet portal.

One of the goals of the office would be to support local implementation of best practice, as the patient feedback from European project for rare diseases national plans development, EUROPLAN, and other public consultation indicates that Irish patients seek quality care as near to home as possible. It is hoped to provide early access to information and referral to ensure that patients will not be obliged to wait longer than necessary to be given a means to manage their mostly life-limiting and debilitating conditions. In addition, population screening and advances in therapies for rare diseases will emphasise the need for agreed care plans and pathways, which provide life-long care and which will require a governance model through a rare diseases clinical directorate. The national centre for metabolic disorders at Temple Street Children’s Hospital and the national centre for medical genetics at Our Lady's Children's Hospital, Crumlin, are seen as centres for expertise in rare disorders. However, both remain severely under-resourced. Due to significant resource deficits at the national centre for medical genetics, no new clinicians are being trained. This will result in an even greater shortage of trained professionals in this discipline in the next ten years. In order to prioritise rare diseases as a whole in the Irish health system and address the current information deficit among health care professionals when it comes to such diseases, networks for provision of equity and safe care to all those affected by rare conditions should be developed.

This provision should be either from a recognised national centre of expertise or by linkage through the patient’s health care provider to recognised European reference networks. The importance of the transition from paediatric to adult care cannot be overemphasised and needs to be managed seamlessly, as this is a highly sensitive time where families need additional support. The implementation of a patient-centred approach to accessing services according to individual patient needs with emphasis on continuity of care for the lifetime of the individual is vital. This can be best achieved through the development of a clinically led national centre for rare diseases.

Appropriate and timely access to medicines and treatments is vital to patients. Genetic and Rare Orders Organisation, GRDO, members have reported difficulties in obtaining appropriate treatments and medicines, and many do not believe that they have access to the best medical care for their condition. Trying to obtain medicines can be distressing for many patients and families. With no licensed treatment available for many conditions, patients are informed of off-label or unlicensed medicine and must inform their doctors. Significant inconsistencies in access to medicines, including orphan drugs, are experienced throughout the country. GRDO hopes this important issue will be addressed in the upcoming national plan for rare diseases.

As patients and their carers of people with rare disorders, we appeal to this committee to recognise that the area of rare diseases is complex and collaboration between all stakeholders is key to moving the process forward. We are therefore working with the national steering committee at the Department of Health on the development of a national plan for rare disease and are now working with the clinical lead for rare disease, Professor Eileen Treacy, on the national clinical programme for rare disease working group. The area of rare disease is one where the benefit of multi-stakeholder engagement has shown great benefit and enables progress. We thank all of those who have worked with us for 26 years to bring the voice of those living with rare diseases to the ears of those who can help us make sensible changes to improve the lives of so many in this country.

Since the early 1990s, GRDO volunteers have worked with patient organisations within the EU on advocacy to develop national plans and strategies to provide better care for patients affected by this condition in the health systems. Countries like France, Denmark, Sweden, Spain, Bulgaria and Romania have all developed national plans that have shown benefit to patient outcomes and also shown savings. Our learning from other member states have provided us with examples of best practice, and as a small country, this should be done more easily than in those with decentralised systems.

In 2009 the EU recommended that all member states have a national plan in place by 2013 and the Government has signed up to this. We are working with the Department of Health, the HSE, the Institute of Public Health, the Health Research Board and other patient groups, including the Irish Platform for Patient’s Organisations, Science and Industry and the Medical Research Charities Group on the development of a national plan which will go for public consultation in April of this year. We are assured that a national plan will be published later this spring and look forward to the announcement of a date of publication. We very much welcome the appointment of Professor Eileen Treacy as clinical lead for rare disease and the development of a working group to develop a clinical care programme.

We as patients are still awaiting a national office or a point where we can ensure that access to the best information is provided to all those who seek it - not only the patients and their carers and families but researchers, clinicians, social workers and policy makers. This is an absolute necessity, with the benefit of such an office obvious to us and all stakeholders, and we hope it will be obvious to the committee. This office will not cost a significant sum of money considering what it is costing every day to have patients referred to several departments, adding to the general cost of health care and creating distress, frustration and further isolation. To put it bluntly, for us it is a "no brainer", so we implore the committee to support us in this, as it is the cornerstone of support for us.

9:45 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I thank Ms Lawlor for her excellent presentation. I welcome Dr. Seán Ennis, the director of UCD's Academic Centre on Rare Diseases.

Dr. Seán Ennis:

I am the director of the recently established UCD Academic Centre on Rare Diseases, ACoRD. I thank the committee for the opportunity to appear before it, and it is an honour for me as a scientist and the interdisciplinary group I represent. I commend the interest shown by the committee in rare diseases.

My message is simple. It is that research into the genetic causes of rare diseases works. What we can achieve in studying a single rare disease today was considered a lifetime achievement only three to five years ago, and this is mainly due to the revolution in genomics and genetic technology and the ability to be able to apply this to any rare disease. Our focus is on rare genetic diseases, particularly those affecting the Irish and Irish Traveller population. We have tried to identify a mutation causing the disease - a spelling mistake in the DNA - and we try to develop diagnostic tests, which are passed to our partners, the National Centre for Medical Genetics, to validate and implement these tests. Once we implicate a gene, we try to build a picture of what is going on, and this knowledge can have an impact on patient management and improve health care for the patient. Our ultimate aim is to investigate conditions which may be amenable to drug targeting or gene therapy. Currently, patient symptoms are treated rather than the cause of a rare disease, with limited treatment options available. Rare diseases take a disproportionate amount of the current health budget.

In my submission I have highlighted three success stories to illustrate the potential power for rare disease research. The story of children born with no eyes was our first major breakthrough using current technology, and we identified the "spelling mistake", as it was, in a gene involved in transporting vitamin A into cells at the right time for the support of eye development. The second story is one concerning a pigmentation infection disorder, and this was originally thought to be three separate syndromes. The "spelling mistake" affected two different genes. The third story - the LARS story - concerned what was thought to be an error in what we call the battery packs of body cells but it turned out to be a life-threatening infantile liver failure disease.

What is the impact of these findings? We have developed diagnostic genetic tests and next month will see the formal introduction by the National Centre for Medical Genetics of those tests, with the conditions added to the testing panel. With regard to impact on patient management, accurate carrier testing and genetic counselling can be offered to individuals, and there is a psychological benefit for patients just having a diagnosis. A simple DNA test now avoids hazardous and invasive procedures in children. Earlier diagnosis allows earlier treatment and it often delays onset of a condition, reducing time to diagnosis. In some instances we can personalise treatment and heighten awareness. This type of work allows new insights into the mechanism of disease and the potential for new targets or therapeutics. It also adds important diagnostic criteria, often with the rare disease informing a broader issue. Like putting a man on the moon or sending a rocket to Mars, we are working with colleagues around the world and we have a set an aim to drive the field. We wish to put in place by 2020 a genetic test for all the known 7,000 rare diseases, and to develop therapies for 200 of these diseases.

I recommend that the committee consider this approach highly effective and will be of increasing importance in the coming years, with national expertise existing in this arena and making a contribution to Ireland's rare disease burden. I urge the committee to be brave in long-term planning and consider the widespread implementation of genomics in rare disease and personalised medicine. I also highlight the importance of basic biomedical research.

Not all scientific advancement can be measured in purely economic terms. I ask members to consider that basic biomedical research should be considered equal to enterprise-focused research. I wish to highlight the importance of patient bio-banks. DNA bio-banks and collections should be a routine feature of clinical care for all newborns. These collections should be made available using the proper constraints to the research community, not just in respect of rare diseases but common ones also.

In regard to the National Centre for Medical Genetics, I note that we will not have world-class health service without a well-resourced, truly national genetic diagnostic service.

9:55 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I welcome Professor Eileen Treacy, consultant in metabolic diseases, National Centre for Inherited Metabolic Disorders, Childrens' University and Mater University Hospitals, National Clinical Lead and National Clinical Programme for Rare Diseases, HSE.

Professor Eileen Treacy:

Good morning. I thank Deputy Buttimer and the joint committee for the opportunity to speak today. Members have heard that rare diseases are life-threatening or chronically debilitating diseases affecting up to 300,000 Irish people during their lives. Although a high proportion of these conditions present in childhood, many present for the first time in adulthood. Across Europe, it is recognised that accurate and timely diagnosis and access to treatment for individuals with rare diseases are severely hampered by their lack of recognition and visibility in health care systems. This leads to poor co-ordination and communication with limited and fragmented clinical and research resources and often a lack of national specific clinical expertise for the condition. After the devastating news of the diagnosis of many of these severely debilitating, life-changing conditions is provided to those affected and their families, the normal response is to seek a cure. Fortunately, major advances in genetic technology and emerging therapies mean that many conditions, previously considered to be untreatable, now have major therapeutic approaches.
In Ireland, challenging times of significantly reduced health care spending and reduced HSE employment numbers mean that marginalised and vulnerable people suffer most unless significant protective mechanisms are put in place. The document Future Health: A Strategic Framework for Reform of the Health Service 2012-2015 explicitly outlines the Government's commitment to faster access to hospital care, improved quality and safety for all Irish patients and better treatment of chronic illness. According to Fineberg, a US expert writing in 2012, a successful health system is effective, safe, timely, patient-centered, equitable and efficient. Treatment is applied without discrimination to all individuals and families. The system must also be fair to the health professionals and institutions delivering care. A sustainable health system must also be affordable and adaptable to changing health care needs, new diseases and new treatments. Members will be aware of a 2009 European Council Recommendation calling for action in this area. This will be elaborated in our emerging national plan and has been described in my written submission.
I now wish to focus on a number of key items in the patient journey. These are equality of access to services, care, treatment and support for all rare disease patients in Ireland, whether children or adults; identification and establishment of centres of expertise for multidisciplinary care; and improving the co-ordination and integration of services whether provided in Ireland or in collaboration with neighbouring European centres. We are pleased to report that the HSE commenced a national clinical programme for rare diseases in December 2013. The working group held its first meeting earlier this week. The programme aims to provide clinical expertise for those affected with rare diseases to be provided through a network of national centres of expertise or, for very rare disorders, in collaboration with European designated centres. Timely access to appropriate diagnosis and care should result in decreased mortality, morbidity and disability, improve quality of life and be cost-effective.
In Ireland, the development of national clinical programmes has demonstrated that successful implementation and transformation can occur with improved efficiencies. This was evident in the success of the national cancer control programme and recent developments in the care of patients with cystic fibrosis. A further example is the National Centre for Hereditary Coagulation Disorders which provides multidisciplinary care for children and adults with hereditary coagulation disorders. Its quality is governed by the National Hemophilia Council. It is anticipated that staffing and sustainability issues for the principal national centres diagnosing and treating large cohorts of patients will require attention. Resources are required to provide safe, timely access to diagnosis, multidisciplinary care and treatment for rare disease groupings of high volume, which are provided locally, or requiring very expert specialised care such as such as at the National Centre for Medical Genetics and the National Centre for Inherited Metabolic Disorders.
The joint committee has heard that approximately 80% of rare diseases are genetic in origin, which means that effective genetic services have a vital role to play in diagnosis and prevention. The Council of Europe Convention on Human Rights and Biomedicine recommends that appropriate, timely genetic counselling is provided for individuals undergoing predictive genetic tests. Early genetic diagnosis, screening and early treatment is highly cost effective. The establishment of a national clinical programme for rare diseases represents a major step forward in the management of rare diseases in line with EU recommendations. We can now move quickly to benefit from the available EU collaboration.
The ongoing consultation process with all stakeholders and the emerging national plan calls for the establishment of a central national rare diseases office linked to the national clinical programme to provide up to date information on new treatments and management options for all Irish patients affected with rare diseases. The office is proposed to act as a national point of reference for enquiries relating to services, diagnostics and clinical trials. It would be linked to established databases, particularly the European information portal, Orphanet. For this function, support by the representative member state is one of the key outcome indicators for rare diseases, national plans and strategies. It is evident that such a model of care would improve the patient experience, facilitate safe quality care, expedite diagnosis, provide the correct treatment, improve communication and education and prove to be cost efficient. The economic benefit to the State of the establishment of a central rare diseases office will stem from the streamlining of access to diagnosis for patients and appropriate quality treatments with increased efficiencies.
The recommendations and strategies to meet European recommendations will cover appropriate governance of centres of expertise and the national rare diseases office; establishment of the required financial and sustainability models; and allocation of human and physical resources and the organisation and management of service delivery. Recommendations will be forthcoming in the rare disease national plan. We are well on the journey with the commencement of the clinical programme.

If we are to engage with and meet the upcoming EU timeframes and our obligations, it is essential a robust central governance model is prioritised, supported and implemented for the National Centre for Medical Genetics and the National Centre for Inherited Metabolic Disorders. This should include the provision and management of centralised, protected and ring-fenced budgets and so-called money follows the patient initiatives for adult and paediatric patients. As my colleagues have mentioned, support for the development of a functional and comprehensive national rare diseases office that accommodates an information helpline and access to the European Orphanet portal database should be prioritised. I thank the members of the joint committee.

10:05 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I call Ms Lorraine Dempsey, who is the chairperson of the Special Needs Parents Association. She is very welcome.

Ms Lorraine Dempsey:

I thank the Chairman and the members of the joint committee for inviting me to speak on behalf of the Special Needs Parents Association, which is a parent-led voluntary organisation with charitable status. It was established by parents from all over Ireland to represent the views of the parents of people with special needs and disabilities, regardless of their age or diagnosis. Our main objective is to support all parents of people with special needs and disabilities by providing information and peer support. In keeping with this objective, we strongly advocate an ethos of collaboration with other representative organisations and support groups in this field. We thank the committee for inviting us to address it today, alongside the other organisations that are represented here.
Children and adults with rare disorders do not necessarily have a disability as defined in the Disability Act 2005. In some cases, their main interaction with the health system is almost exclusively at hospital-based tertiary care level, led out by specialist clinical teams. The members of the Special Needs Parents Association have children with rare diseases who fall into the category of having a disability or a special educational need. They are the area of our focus in this submission. Regardless of when parents initially learn their child is not developing as expected - he or she may present with complex medical needs or be diagnosed pre-natally or immediately post-natally - the pathway to be followed can differ dramatically. Depending on the nature of the condition, the pathway can be relatively well laid-out or can be highly complex. In the case of patients with rare diseases, establishing a precise diagnosis and initiating a treatment are typically not straightforward. Additional expertise is often required, but it is not necessarily readily available in Ireland.
I propose to speak about five areas that have been identified by our members - the parents of children with rare diseases - as being problematic, namely, information, genetic testing and counselling, disability services, paediatric home care and special educational supports. Quite often, especially in cases of extremely rare disorders, the available and possibly useful information for parents whose children have rare diseases is not easily accessible or readily signposted. This is a source of frustration for parents who inadvertently end up embarking on their own Internet searches. This should be done with extreme caution, as it can cause undue distress to parents who are not readily predisposed to reading medical journals and research papers which, for example, may refer to a particular chromosome. We dealt with the case of a parent who googled a genetic anomaly that had been identified through testing and came upon an Italian research paper that referenced the chromosome in relation to the development of breast cancer. Although this had absolutely nothing to do with the genetic condition the child had been diagnosed with, the parent lived with the fear that the child was facing a gruesome prognosis until we provided a more relevant source of information and support, albeit based in the United States.
Several valuable websites provide information and family profiles of children with genetic and rare disorders, or, in the case of SWAN UK, children who have syndromes without names. Some parents have expressed disappointment and frustration about being handed a leaflet by a genetic counsellor directing them to an organisation like Unique and having to source all information by themselves thereafter. I do not doubt the intention is not to cause further distress to families, but that is the outcome. The genetic teams are concerned with having the time and resources to be in a position to provide an information pack to those who receive a diagnosis. The section of our presentation dealing with genetic testing and counselling makes it clear that the time lag between diagnosis and genetic counselling inadvertently leads to families having to fend for themselves and depend on their own capacity to source information and analyse its relevance. I will read some quotes from parents throughout this presentation. One parent told us that a neurologist "gave us the diagnosis but knew nothing about the syndrome and said the genetics centre [would] go through it with us". This parent received a letter saying "they will see us in 14 months" and was "literally left to google to find out everything myself". Our association has developed a page on its website dedicated to rare disorders, which lists useful websites where parents can begin their searches. As a voluntary organisation, we do not have the specific resources required to assist every parent in need of very specific and often technically presented medical information. Therefore, we refer parents to other bodies, such as the Genetic and Rare Disorders Organisation.
An investigation that was published by RehabCare in 2008 looked at the social support needs of families on the island of Ireland that have children with rare disorders. It found that "specialist health professionals involved in this research agreed that the information they have on rare disorders can often be in an unsuitable format for parents and that support is needed to help them translate information and compile it for families". The submission I have furnished to the joint committee provides various statistics on medical professionals at tertiary and primary levels, in terms of the information they knew and the deficits thereafter. The RehabCare investigation stated:

All of the family participants in this research had either used the internet to access information on the relevant rare disorder or had a friend who got them information from the internet; 60.3 per cent of the GPs who cited where they sourced their information on rare disorders stated that the internet was their primary tool. This research has reported on the strengths as well as the risks of internet usage in searching for information on rare disorders.
This further endorses our call for the establishment of a national rare diseases office.
All that we can offer to the parents of children without a diagnosis is peer support to prevent the isolation experienced by many parents who have no specific group to which to belong. We are aware that non-governmental organisations involved with rare diseases have a significant role in the dissemination of information and the provision of public support. In the cases of many rare diseases, these organisations are led by parents or patients on a voluntary basis with the primary function of providing information and peer support. They do not necessarily fit the criteria for many of the funding schemes that are available. While they serve a valuable function by providing information and support, they are precluded from applying for funding unless they embark on particular projects, which typically require them to provide matching funding. This is not a possibility for many of the smaller groups that represent individual rare syndromes. Such groups are typically run by parents who dedicate their time to addressing the needs of their own children and supporting the needs of other families. We would welcome a funding scheme of minor grants specifically for the purposes of supporting small voluntary organisations and groups involved in the provision of peer support and information.
I will move on to speaking about genetic testing and counselling. From a practical perspective, waiting times for genetic testing and subsequent genetic counselling have been particularly problematic for families who have to work within the current system, in which diagnosis is essential if educational and therapeutic supports are to be obtained. We must also consider the psychological impact of waiting for answers over lengthy periods, which can sometimes be measured in years rather than months. This could be alleviated by increasing the staffing resources in genetic centres. We have been contacted by a parent who has told us that the waiting list for the geneticist in Crumlin was nearly two years. This person's daughter was referred in October 2012 and again in June 2013 and is still waiting. The parents have been told they will be waiting a year to see the genetic counsellor to discuss the diagnosis if they are prepared to travel to Dublin. Alternatively, they will have to wait over a year and half to see the genetic counsellor in the local hospital.
I would like to comment on disability services. If a child requires a referral for interventions from primary care and disability services, the pathway can be fraught with difficulties depending on the area in which they live and the child's clinical diagnosis. It would not be unusual for consultants to have to write more than one letter to these services impressing on them the need for patients to receive therapeutic interventions to maximise their potential and minimise the adverse effects of inaction. I will quote from another parent:
I have a 4yr old with 3p syndrome. She has a lot of issues [including] low muscle tone, moderate hearing, wears glasses, developmentally delayed, not toilet trained. She has a few words so far so communicating to anyone outside the home is very tough for her. She's never been assessed by an Occupational Therapist, gets minimal speech therapy even though Temple Street sent letters stating she needs a lot of therapy as she has sensory issues especially regarding food. I'm at my wits end due to lack of therapy for her and she's pushed round from pillar to post as no one has heard of her syndrome. She's such a pleasant child [and] my heart is broken [that] she cannot communicate.

The difficulty from the perspective of primary care teams and disability services is one of capacity. The overwhelming response from the services surveyed was that they did not have sufficient staff resources to respond to the number of referrals and to meet the range of complex needs of children and their families. The current moratorium and removal of the exemption of clinical staff also impacts severely on the services and supports that can be provided, and this applies to the other relevant levels of services such as primary care and specialist services. This was discussed last year in the paper on team composition and progressing children's disability services. While a further 80 new therapeutic posts have been sanctioned by the HSE this month, professional deficits in the composition of fully staffed multidisciplinary disability network teams and primary care teams will undoubtedly lead to a continuation of lengthy waiting lists and gaps in therapeutic interventions, despite having rolled out an ambitious and the largest national health reform for the delivery of services for children with a disability, which will progress disability services for children and young persons. We are calling for a breakdown of figures of the professional gaps and exact deficit in the number of posts required to fully staff the new disability network teams being established in each HSE area and at primary care level. Without a further plan to provide additional resources, this programme of reform will only address the issues of equity of access to services based on need but will be unable to provide an adequate level of services which could be deemed to be a success.
The Jack and Jill Children's Foundation has been the most vocal organisation in lobbying for more budgetary resources to be allocated to the area of paediatric home care. Not every child falls under the criteria to receive nursing support from the Jack and Jill Children's Foundation, and these children often find themselves in limbo in our paediatric hospitals for longer than 12 months awaiting funding for home care packages. There are very poor budgetary provisions for home care for children who have rare disorders but also for children with disabilities who are under the age of 18. In some areas it has been reported that there is no specific budget. Families will continue to struggle practically, psychologically, socially and financially. If this is coupled with the isolation that many parents of children with rare diseases experience regularly, parents will battle with mental health difficulties, marital breakdown and often a dependency on social welfare supports while living well below a level of subsistence as carers. There is no alternative for them unless the Government gives priority to supporting our families to allow them a better quality of life and options to continue with employment to support their families financially in the long term. It is fiscally counter-productive to lose a taxpayer because he or she has no alternative but to stay at home to care for his or her child when home care is cited as the only reason. It is fiscally counter-productive to have a child receiving more expensive hospital care when the development of less costly community-based care would save the Exchequer long term.
One of the areas not immediately considered as a special educational support is nursing care This is not an area within the committee's remit but it is an allied support. Traditionally, nursing care in schools was confined to special schools where the patron was a disability service provider and the post of school nurse was funded through the allocated HSE budget for the service. Some consideration needs to be given to establishing a school nursing scheme funded through the Department of Education and Skills or possibly the Department of Health to cater for the high medical needs of children presenting in mainstream education owing to the promotion of the Government policy of inclusion and also in special schools where there is an ad hocprovision of nursing posts. There is no reason other than funding that would prevent a child requiring tracheotomy care, tube feeding, oxygen therapy, with seizure activity and administration of regular medications, from attending mainstream education. Teachers and special needs assistants cannot be held professionally accountable or responsible for the complex medical needs of children who may not be a right fit academically for a placement in a special school. Also to be considered is the demand on spaces in special schools, particularly in the Dublin area, which do not have adequate placements available to cater for the increasing numbers of children with complex medical needs.
With the push towards inclusion, we should not accept that some children are left at home because they cannot be catered for. In Donegal, the HSE decision in 2012 and 2013 to implement a planned staged closure of two special preschools under the banner of inclusion came with an acknowledgement that 5% of children attending would not be able to avail of the ECCE scheme in mainstream preschools as their medical needs would be deemed too complex to cater for without nursing support. All these children come under the category of rare disorders. The option for that 5% of children is to stay at home in the formative years while their peers avail of what all children are supposedly entitled to. A policy of inclusion must be adequately resourced if all children are to be given equal opportunities.
The issue of allocation of teaching supports is being addressed by the Department of Education and Skills and the National Council for Special Education which is expected to complete the proposals for a new model of teaching allocations over the next few months. The premise of the new model is that special teaching supports will be allocated on the basis of educational need rather than the current model of allocations based on category of disability. This is of particular relevance to children who have syndromes without names, are awaiting diagnosis or whose diagnosis and needs are complex yet do not fall into the relevant categories for the allocation of resource hours. The SNPA has been involved in the consultation process for the development of a new model and has attended subsequent meetings with the NCSE. As we are a cross-disability organisation, we have been the only voice for the many parents who have no other representative organisation due to the rarity of their children's conditions, and we wholly endorse a model of teaching allocations based on a child's needs and not what box is ticked on an administrative form.
Governments are in a position to make improvements in general areas such as quality and accessibility of health care, the promotion of research, and the screening for and, in certain cases, the prevention of rare diseases. The Government has it within its gift to ensure all aspects of the strategy are implemented to vastly improve the outcomes both clinically and holistically. Only those living with a rare disease have the direct experience of how it has affected them and their families The strategy on rare diseases is significant but only an element in the overall system of supporting children, adults and their families dealing with rare diseases in Ireland. The SNPA is dedicated to collaborating with other agencies and organisations in the promotion of the implementation of the Irish strategy on rare diseases.

10:15 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I welcome Mr. Declan McPhillips, the chairperson of the Rett Syndrome Association of Ireland and CDKL 5 Association of Ireland.

Mr. Declan McPhillips:

I am chairperson of the Rett Syndrome Association of Ireland and of the CDKL 5 Association of Ireland. My daughter, Shauna, is profoundly disabled by Rett syndrome. I thank the committee for extending the invitation to us to make a presentation at this meeting. I thank Deputy Caoimhghín Ó Caoláin in particular who nominated us to attend. Deputy Ó Caoláin attended our conference and experienced at first hand the difficulties faced by these families. I thank everyone from both Houses of the Oireachtas and from the Northern Ireland Assembly who took part in the Mourne Mountains charity walk last year, the proceeds of which were very kindly donated to the Rett Syndrome Association of Ireland.
The association is a voluntary organisation with nine committee members, all parents of children with Rett syndrome and CDKL 5. It a rare neurological disorder primarily affecting girls and is caused by a random mutation of a gene on the X chromosome. The incidence is one in every 10,000 female births, approximately three per year. In most cases the girls appear normal at birth and continue to develop until a devastating regression takes place, usually between 12 and 18 months, leaving the girls with a multiple range of profound physical and intellectual disabilities. Most are unable to walk, talk or use their hands, resulting in total dependency for all their needs, day and night, for all their lives. Epilepsy, scoliosis, breathing irregularities and tube feeding are also common features of the condition. There are a total of 21 symptoms. CDKL 5 is a very similar condition with similar symptoms and is often referred to as atypical Rett syndrome. There are three cases of CDKL 5 in Ireland and 74 cases of Rett syndrome in our organisation.
The first major breakthrough came in 1999 when the gene responsible for the condition was discovered. This led to the creation of Rett mice models in laboratories around the world. In 2007, the scientific and medical world was rocked when Rett syndrome became the first neurological disorder to be reversed or cured in mice in a laboratory. This has given great hope not only to families affected by Rett syndrome but also to those affected by other neurological disorders, including autism.
The search for a cure in humans continues and many trials are taking place around the world in efforts to identify existing drugs, in the Children's Hospital in Boston and in Italy, which may relieve some of the many symptoms of the condition. That is why continuous funding for research into rare diseases is critical as a breakthrough can often have knock-on effects for other mainstream conditions.
We carried out a survey of families which included just over half the number of families in the organisation.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I ask Mr. McPhillips to speak slowly as this information is not contained in the briefing document supplied to the committee members.

10:25 am

Mr. Declan McPhillips:

I am sorry. Some 34% of the families are living in south Dublin, Kildare, Wicklow and the midlands, 20% are living in north Dublin, Cavan, Monaghan, Louth and Meath, 17% are living in the south, 14% are living in the west and 14% are living in Northern Ireland. Some 55% of girls with Rett syndrome are under the age of 12 years. The oldest woman with the condition who I know of in Ireland is 46 years of age and lives in Longford. I met her at the conference last October. Some 66% of the women in question have or had scoliosis. The waiting time for surgery has ranged between four months and three years. Some of the women have curvatures of 85% and some 89% and 71% suffer from severe constipation and reflux, respectively.

Some 59% of parents get less than three to five hours' sleep on a normal night. Some 63% have received injuries relating to the care of their daughters and 87% have reported that family income for their daughters' care has been reduced by the previous two budgets. Some 66% of families are the affected children's primary carers, but only 54% receive respite care and 17% of the girls do not receive any physiotherapy at all. As 83% of them have medical cards, it means that 17% of girls with this condition have none.

Of the parents, 94% report stress in their relationships because of caring for their children and 61% have experienced depression over their daughters' disabilities. Some 47% report difficulties in waiting for surgeries. Long waiting lists are the most usual problems. In Northern Ireland, the longest that most families must wait for appointments is eight weeks.

Other items referred to by families include inadequate access to medical services, medical service staff not being knowledgeable of Rett syndrome, difficulty in accessing the necessary equipment, cutbacks to transport and being unable to afford alterations to cars.

As a parent, I know what it is like...

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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Take your time.

Mr. Declan McPhillips:

I am sorry, Chairman.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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You are okay. If you want to take a break, we can come back to you after the questions and answers session.

Mr. Declan McPhillips:

I know what it is like to put a two year old child to bed who says, "Good night", and that is the last time she ever speaks. That is all, Chairman.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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Thank you Mr. McPhillips. We will now move on to our final witness, Mr. Philip Watt, chairperson of the rare diseases task force and the Medical Research Charities Group, MRCG, and CEO of Cystic Fibrosis Ireland. He is welcome.

Mr. Philip Watt:

Mr. McPhillips has probably said in more words and emotion than I might say. I will focus on two key areas. The first will give a brief description of the approach that we have adopted towards promoting the issues and challenges of rare diseases. The second will outline some of the reasons we need an effective national plan on rare diseases.

The rare diseases task force brings together three networks, including the Genetic and Rare Disorders Organisation, GRDO. I acknowledge the presence of its chairperson, Ms Avril Daly. The other networks are the Irish Platform for Patient Organisations, Science and Industry, IPPOSI - I acknowledge the presence of my colleague, Ms Eibhlin Mulroe - and the MRCG. We bring together a wide range of patient groups that are concerned with rare diseases, which I have listed in our submission for the benefit of committee members.

Mr. McPhillips has set out why we need an effective plan. I will highlight two further conditions that would benefit from an effective national plan on rare diseases. Emma is 28 years old and has epidermolysis bullosa, EB, which means her skin is fragile, delicate and easily damaged. Like most rare diseases, it is a genetic condition and affects approximately 300 people in Ireland. If someone with EB knocks or rubs his or her skin, it causes the skin to blister and come off. Emma requires high doses of pain relief, including morphine. However, she states: "I never let it get me down. Research into better treatments and cures for EB is happening worldwide. It is important to have an organisation [DEBRA Ireland is the name of that patient organisation] that fights on your behalf".

I will provide another brief example. Ciara is in her mid-20s and has Huntington's disease, which is an inherited neurological disorder. Each child of an affected adult has a 50:50 chance of inheriting the disorder. There are more than 500 sufferers in Ireland. It begins with involuntary movements and balance problems, progressively impacts on organisation and perception skills and can involve mood and personality changes. The impact is not just on health, including mental health, but on employment and relationships. Ciara states: "It sent a shockwave through my family as we found out we are all at risk. We knew so little about the disease".

There are significant problems with the health system as it relates to rare diseases. We have heard eloquent testimony from everyone present. There are lengthy delays in diagnosis or, in some cases, there are misdiagnoses, thus delaying treatment or seeing the wrong treatment provided. Parents and patients have difficulty in accessing accurate information and support. When a parent is told that his or her child may have a particular disease, naturally the parent's first action is to try to Google it. Often, this creates much fear, misinformation and concern. We need a national office from which accurate information can be provided and that parents know to contact directly.

In terms of cystic fibrosis, the greatest improvement has been the development of specialised centres with multidisciplinary teams. However, major gaps and weaknesses exist in the treatment of people with rare diseases. We have heard of some today.

Additional challenges are posed by rare diseases. Frequently, research into the development of new therapies and drugs carries a very high cost. Development itself costs a great deal, but there is also less return on that investment for the pharmaceutical companies. There is a considerable risk in investing large sums of money without knowing whether a particular therapy will be successful. There is a lack of understanding among the media and the general public as to why drugs for rare diseases - orphan drugs, as they are called - are more expensive. More information needs to be provided to ensure that people understand why this is the case.

There is also insufficient funding of basic health research in Ireland. There is a slight concern that we are moving more towards applied research, that is, research that simply informs services. We need to continue investing in basic research and finding cures. I say this carefully because, in some cases, cures or near-to-cures are being found for some rare diseases. This is a great beacon of hope - with further investment in basic research, more cures or at least the alleviation of the conditions of those with rare diseases will come about.

What is frequently glossed over or misunderstood is the need for greater support and recognition for patient groups. While I am involved in Cystic Fibrosis Ireland, which is relatively well resourced, many patient groups are basically composed of two, three or four people, for example, parents, who are doing all of the work on a voluntary basis. They need support. The GRDO is the organisation that provides that support, although it has few resources to do so.

As part of the national plan we need to ensure that there is effective support for patient groups and those who support patient groups.

We need an effective national plan for rare diseases. The key part of the process is the national office. I pay tribute to John Devlin, the deputy chief medical officer, who has been most inclusive in the development of the rare diseases plan. We look forward to the implementation of the plan and the appointment of Professor Eileen Tracey to oversee the national clinical programme. We need effective access to diagnoses, specialised centres, specialised support for registries and databases and a one-stop-shop for information and advice. Moreover, we need to ensure that drugs and new therapies for rare diseases are not discriminated against purely on the basis of cost. There is a need for greater transnational co-operation between Ireland, North and South, and between Ireland and the United Kingdom in terms of the treatment of diseases.

10:35 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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Thank you and I thank all of you for your presentations. In particular, I thank Mr. McPhillips for his testimony this morning. I remind members that a photograph will be taken at the end of the meeting with our guests. Senator Burke will be attending the conference tomorrow in Belfast. I am unsure whether Deputy Ó Caoláin will attend but Senator Burke is going.

Photo of Billy KelleherBilly Kelleher (Cork North Central, Fianna Fail)
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I welcome the witnesses and thank them for their presentations. There are several issues which have to be discussed and teased out on a broader basis. One relates to the support for individual families and the difficulties they face on a daily basis in dealing with rare diseases. Another issue is how to fund and put in place a proper system whereby we can have collaborative research and transnational co-operation in terms of diagnostics and treatments.

It is fair to say that since we are discussing rare diseases the topic does not have the same impact as others. This is because many small groups have amalgamated to make a large group, which is disparate by its nature. It can be insular and isolated in terms of people dealing with these issues.

Do we have the capacity in this country to carry out and support research and then move into diagnostics and treatment? Do we have the capacity to deal with all of the various rare diseases in the country or do we need to accept that we need to be collaborative in our approach with Northern Ireland, the United Kingdom and Europe? Should we accept that and try to put in place structures that will make it seamless, efficient and humane for the people who will need to be diagnosed and who will need to access treatment? Although we would like to see services available in Ireland, is it always feasible, possible, practical and affordable? Unfortunately, at the end of the day everything must be addressed around that consideration. I am keen to hear some thoughts on that.

Reference has been made to basic research. For years we criticised researchers, including those in universities and research institutes throughout the country because they were not moving to a spin-out system whereby research is put into a commercial venture at some stage. Perhaps we have gone to the extreme in this area whereby we are now forcing people to agree that research must be commercialised as quickly as possible for financial gain. Is basic research being undermined in our universities and research institutes throughout the country and further afield, including Europe? Is research primarily focused on commercial outcomes as opposed to the basic research principle? I am keen to hear some thoughts on that, especially from Dr. Seán Ennis.

We speak a good deal about primary care and this is how we intend to deliver care in the future in this country. The funding we are providing for primary care certainly does not match up with the statements of intent. How do we expect general practitioners to have a basic knowledge of up to 8,000 rare diseases? How can we expect primary care teams to have a basic knowledge? How do we expect primary care teams to be able to identify where patients should go for diagnostics? Do we have sufficient consultants? Have we the capability or the number of consultants on this island to be able to assist our primary care teams and GPs, who are at the coalface day in, day out in terms of dealing with rare diseases?

We have all heard anecdotal evidence and personal statements from individuals whose family members have been affected by rare diseases. One of the major challenges has been to get the diagnosis. For years parents were almost vilified in their own minds and thought there was something wrong with them because they believed there was something wrong with their child. That put considerable stress and pressures on individuals and families.

The bottom line is, unfortunately, that everything is resource dependent. I dislike being blunt on the matter and, from an Opposition Deputy's point of view, it is always easier to say the opposite. However, the key issue is whether we need to be more collaborative throughout Europe not only in terms of the diagnostics but also in terms of the treatments. Is it always feasible to have the treatments on this island? I am keen for some clarity on that issue.

The issue of paediatric home carers is a very sensitive area and we need highly-qualified clinicians. It is not simply a case of putting a person into the home to look after children. We need well-trained clinicians who can support the family as part of home care paediatric packages. Do we need to begin to accept that at present our clinicians need further training? Do we need to enhance their capacity to support individuals who have rare diseases as well as their families?

Photo of Caoimhghín Ó CaoláinCaoimhghín Ó Caoláin (Cavan-Monaghan, Sinn Fein)
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The presentations this morning have been very impressive. The message that the deputations have delivered not only in terms of what we need to provide but in the great hope that underlies all of what they have had to say is of great importance. I hope that on the eve of international rare disease day the broad media will take on board this morning's session of the Joint Committee on Health and Children and report it appropriately. Too often, the work of this committee is overlooked and I believe that is doing a disservice, particularly to the significant body of people, including many young people among that number, that each of the deputations represent.

At the outset of Ms Lawlor's contribution she referred to the condition not affecting the ability of a child, adolescent or even an older life to participate but that it was a lack of support that excludes them from education and employment opportunities. She said this was of great concern to the Genetic and Rare Disorders Organisation. Will Ms Lawlor elaborate on these areas of support to prime us, as elected voices in these Houses and not only in this committee? What supports might open a door to education and employment for young people or older people who are currently excluded from either of those options in life?

Reference was made to the lack of awareness of rare conditions among health care professionals, including the family general practitioner. Often, the GP is the first line of engagement. This is a major area and it is very important. I could be repeating a question I asked two years ago but has there been ongoing engagement with the Irish Medical Organisation, the Irish College of General Practitioners or the National Association of General Practitioners to prime them to fine tune their awareness of this area in order that they can, in turn, impact on their respective memberships? Most of the memberships would be dual, with the IMO being the most likely overarching body since it represents the greater number. In that regard GPs are a first point of contact. What steps have been taken or can now be taken to try to improve that awareness?

The deputations highlighted several points in their presentations which we can take up as elected voices. These included the point about the genetic test and that so many samples continue to be sent abroad, with the cost this represents something in the region of €1.5 million per annum. All too sadly the economic end of today's life and the cost of things is of major importance.

The one message that is clear, and I welcome Professor Treacy's strong indication of it, is the need for the establishment of a national office for rare diseases, and that this would be a core proposal of the programme to be presented later this spring. This committee is cross party, with independent voices, but invariably, thinking as human beings about the great leveller that is health, we set aside our political differences to ensure that improvements are brought about. This certainly is the big message out of today's engagement; the establishment of a national centre for rare diseases which is properly resourced. Resourcing is of major importance.

It is absolutely marvellous that the academic centre on rare diseases now has formal recognition as of last June. While I do not intend to respond to my colleagues' earlier points, we would all see research for the answers as part of a global collaboration, but Dr. Ennis's particular focus is on the Irish Traveller population. It is very unlikely that others elsewhere on this Earth will set about that particular body of work, so it is wonderful that he and his colleagues are doing that. I wish them every good luck with their continued research.

We tend sometimes to think that we are behind the queue with new ideas and finding the answers, but Professor Treacy rightly makes the point that a lack of recognition in health care systems is across Europe. The GP issue to which I referred is not just confined to an Irish experience, and it is understandable given the rarity of some of the cases. When we look at the numbers of people impacted by rare diseases, such as 374 people with Rett syndrome and those with CDKL5 and the various other rare diseases that present, together they make up a significant body of our population and we need to be mindful of that.

I wished to refer to a number of other points, but the clock is beating me. Ms Dempsey spoke about the Special Needs Parents Association. While one would not think that SNPA would have neat fit in this panel, what we were told this morning demonstrates that it is not just SWAN - syndromes without a name - but those are parents of very small numbers of children with incidents of rare disease to which Ms Dempsey's organisation has provided great support. I would like to acknowledge that. I have met parents, including in this institution, who acknowledge that and I would like to record our thanks to Ms Dempsey for that.

There is a psychological impact of waiting for answers over lengthy periods. I am a parent myself and have found it difficult enough coping as a parent without the additional challenge of the uncertainty and the dark space of not knowing what is wrong with my child. That is something we all need to take on board.

Mr. Declan McPhillips is a neighbour and he and his wife Marie are friends of mine. I want to say as a neighbour and a friend that I was never more proud of you than today. Well done. Go raibh maith agat, a Chathaoirligh.

10:45 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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Thank you, Deputy, for that last comment. I think you speak for us all. We do not necessarily understand, but we appreciate and we are genuine in our approach today, and we thank you, Mr. McPhillips, for being here. I know it has taken a Trojan effort to be here, and I want to thank you and your family. I now call on Senator Burke.

Photo of Colm BurkeColm Burke (Fine Gael)
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I thank all the speakers for their detailed presentations, with much work put into them and the organisations they work with.

I have come across a number of cases that deal with treatment abroad. One example is of a person being dealt with in Dublin and it was obvious that a diagnosis had not been provided. When the person went to the treatment abroad fund about getting a referral to Great Ormond Street, we had major difficulty in getting the treatment abroad office to come on board. Ms Lawlor's organisation deals with many people and I wondered if this is the norm. How is it being dealt with? This problem arose because of one line in the medical report in the Dublin hospital stating that there was a need for a second opinion. As that wording was used, the treatment abroad office decided that it would not fund second opinions. The problem in this case was that there was no diagnosis so it was not about getting a second opinion anyway, but about getting a first opinion on what the diagnosis should be. What is Ms Lawlor's experience with that?

I had an Adjournment matter on the national rare diseases office recently, trying to press the issue. Have we looked at the cost of setting up this office? The response I have received so far from the Department has not been what I would like it to be. Do we even have an idea of the cost of setting up and running this office for a period of 12 months? Do the witnesses have any information from the Department as to when this office is likely to be set up? If we have a costing for it for 12 months at least, perhaps we can examine whether money can be taken from another budget that will not be used over the next 12 months. I know there is very little in the health care area which is not going to be used up, but I imagine that it is not a phenomenal amount of money to run this office. I am a bit concerned about the delay in dealing with this issue and I wonder what Ms Lawlor's view is on that.

Photo of Dan NevilleDan Neville (Limerick, Fine Gael)
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I thank the witnesses for coming in today. I have special knowledge of rare diseases, although I do not want to say any more about it. I think Mr. Watt may know.

I would like to speak about the inequality of technical knowledge of the medical profession about the treatment of rare diseases. We had witnesses before the committee recently speaking about Lyme disease, and they had extreme difficulty in getting the medical profession recognise their condition. I brought it up in the Dáil last week with the Minister for Health, and he was very forthcoming about the condition and the need for identification and treatment.

I remember more than 20 years ago when I was campaigning to have attention deficit hyperactivity disorder, ADHD, recognised, it took at least five years to get any part of the psychiatric profession even to accept it was a condition. They put it down to bad parenting. My point is that there is an inconsistency among various medical general practitioners because of their lack of exposure to rare diseases.

Have the witnesses identified any rare mental health diseases? They might address that question.

10:55 am

Photo of Sandra McLellanSandra McLellan (Cork East, Sinn Fein)
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I welcome the representatives and commend them on the work they are doing. The presentations were at times very emotional and excellent and among some of the most compelling made to this committee.

I have made a lot of notes because the presentations were so good, but I want to pick up on some points made. On the lack of awareness of general practitioners of the rare diseases, the representatives said that parents often become the experts, which is correct, but I find at times the GPs are sending the parents to constituency offices to try to access services and get proper assessments on diagnosis. That comes back to the question, namely, why we are still awaiting a properly resourced national office? That is a no-brainer.

I refer to the point on the transition from child to adult. I may have picked it up a different way but with regard to children under 16 and the domiciliary care allowance and the carer's allowance, when some children turn 16 they get a letter to the effect that the carer's allowance or the domiciliary allowance is being stopped. There is sometimes a lack of understanding of the rare diseases. Parents then raise the issue with us but it might take them another two years to get those allowances in train. We see that happen frequently, and I am sure the representatives come across it frequently as well.

The presentation from the Special Needs Parents Association was very good. The fact is it is a voluntary organisation and its members have to refer parents to the Genetic and Rare Disorders Organisation, GRDO. It appears from the presentations that there is just one employee who works 15 hours a week.

Photo of Caoimhghín Ó CaoláinCaoimhghín Ó Caoláin (Cavan-Monaghan, Sinn Fein)
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That is Ms Anne Lawlor.

Photo of Sandra McLellanSandra McLellan (Cork East, Sinn Fein)
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It is astonishing that person is being sent referrals constantly yet only works 15 hours a week. With 6% to 8% of the population suffering from rare diseases, surely we should have several whole-time equivalents. Those are the points that struck me. Many of the other issues have been covered. I have taken so many notes, it would take time to refer to all the pages, but I thank the representatives because I have learned a great deal today.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I thank Deputy Sandra McLellan. I will call Mr. Philip Watt to respond.

Mr. Philip Watt:

I thank the Chairman. The collaborative approach is very important. It is clear we will not have enough specialised centres or staff to deal with all rare diseases in Ireland, so crucial co-operation with our partners in the North is vital. The conference on Friday, which the Minister of State at the Department of Health, Deputy Alex White, is attending is crucial in that development. In regard to the point raised by Deputy Sandra McLellan, the most important thing is the issue around support for patient groups that are emerging. We had a meeting yesterday at which people were very upset that they are not getting any supports and did not know where to turn. It is unsustainable to have someone working so few hours. Wonderful though Ms Anne Lawlor is, resources for GRDO are essential.

I am glad the issue of the national office has been raised. That is probably the most important point we wanted to make today and to acknowledge Senator Colm Burke for his Adjournment debate and keeping the issue alive. We will need resources for that office. I think the resources will be relatively modest. I would not envisage more than €500,000 for an office of that size which will have the potential for savings but most of all decreased angst for parents who will not have to traipse from one Department to another, from one GP to specialists and others to try to get a clear diagnosis for their child. I am sure the national office, when up and running, will make huge savings for the health service down the line.

I acknowledge Deputy Caoimhghín Ó Caoláin's point in terms of the personal support. I am delighted to hear Mr. Declan McPhillips say he has been very supportive of the work of the group and has given the visibility through his own party. That is so important. That little bit of personal support and advice is what keeps people going. I thank him on a personal basis for that.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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Does Mr. McPhillips wish to make any further contribution?

Mr. Declan McPhillips:

On the point raised by Deputy Sandra McLellan, I spoke to a father yesterday whose 16 year old child was finished at Crumlin Hospital and has nowhere to go except back to her GP. Once the child is over 16 years of age, she cannot go back to Crumlin Hospital and has nowhere to go.

Photo of Caoimhghín Ó CaoláinCaoimhghín Ó Caoláin (Cavan-Monaghan, Sinn Fein)
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May I ask one question? In Mr. Declan McPhillips' presentation, the following did not so much come across but jump out at me. We talked about the withdrawal of the telephone allowance for older people. I notice a reference in the last line that I do not think Mr. McPhillips delivered in his oral contribution. He mention telephone support. If there a factor there?

Mr. Declan McPhillips:

Yes. Part of the condition and part of the symptoms is cold hands and cold feet all the time for these children. In my house the heating never goes off but the ESB allowance and the telephone allowance have been cut. Sometimes we have to make telephone calls to America about the condition rather than sending e-mails. The cut to the telephone allowance and the ESB allowance does not just affect the elderly, it also affects people with special needs.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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I call Ms Lorraine Dempsey.

Ms Lorraine Dempsey:

Deputy Billy Kelleher asked about paediatric home care. We are talking specifically about trained nurses in the cases of children who have very complex medical needs. There are two issues. One is that the HSE would provide an actual financial budget for paediatric home care for a specific child's package. The other issue, which is slightly more difficult, is providing the staff to provide that home care. I am a former nurse. Among the nursing profession there is not an awareness that one does not have to be a paediatric nurse to provide tracheostomy care for a child at home. Training is available and those training will be organised through the various agencies with which the HSE is dealing in terms of providing a package of home care. For nurses who are generally trained there is that option to get involved in their local area with children awaiting staffing of the packages of home care. They just have to contact the relevant agencies to which the HSE is outsourcing the care and the training will be provided for these children's complex needs, albeit the nurses' primary education would have been in general nursing. It is important our nursing community is aware of that. One of the big problems is that while funding may be available after a long time fighting for funding for paediatric home care, the difficulty is staffing those packages. We are talking about some children who require 24 hour medical and nursing care in the home.

The Jack and Jill Children's Foundation would have presented to the committee the figures for primary versus tertiary care and the significant savings for the State and the HSE's budget would have been apparent.

I met Deputy Ó Caoláin at the Rett syndrome conference a number of years ago when he spent several hours talking to parents. It is good to see that public representatives get first hand knowledge of what it is like for families to deal with these syndromes. I wholly empathise with Mr. Declan McPhillips who has a child with disabilities, whom I brought to assist me at the information stand at Rett syndrome conference.

11:05 am

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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May I interrupt Ms Dempsey to alert Senator Burke to a vote in the Seanad.

Ms Lorraine Dempsey:

Our children would be familiar with presentations. I commend Mr. McPhillips for his speech today. He opened up on the difficulties that we experience. Our primary problem is fighting for supports for our children. It is not fighting the disability or the rare disorder, or the condition itself. We can cope with that. What we cannot cope with is the continuous fighting for supports. It is within the gift of the committee to help us.

I will touch on the psychological impact of waiting for a diagnosis. I have described the pitfalls in the gap between a parent getting a diagnosis and having a discussion on the diagnosis and the long-term prognosis.

In the past 48 hours we polled the members of the organisation whose children have very rare disorders with a view to finding out what disorders the families are dealing with. The list is too long to mention. By engaging in that process over the past 48 hours, parents have started to connect on a simple online forum. We have parents who have a child, who is the only person in Ireland or in some cases the world with a particular diagnosis. It is very difficult to provide a service. We can be empathetic and understanding, but it is difficult and the only place in which these parents can get clear and accurate information would be a centralised office where the information can be screened safely and given to them with support.

I also thank Deputy Ó Caoláin for acknowledging the fact that we are a voluntary organisation, which I head up by working full time on a voluntary basis. I am fortunate to be in a position to do so.

Senator Burke raised the issue of the difficulties with the treatment abroad scheme. There is one diagnosis in particular where those who have this diagnosis seem to have constant battles with the treatment abroad scheme. There are no specialist to treat Ehlers-Danlos syndrome in Ireland. We deal with a bureaucracy and there is no specialist to refer them to specialist centres abroad. That seems to be an ironic sticking point in the treatment abroad scheme and its administration.

Deputy McLellan raised issues that arise in the period of transition from children to adults, such as what happens in respect of domiciliary care allowance, carer's allowance and disability allowance. The domiciliary care allowance was reviewed last year and at present the recommendations that were sanctioned by the Minister are being implemented. I am involved in the implementation group in the Department. The transition period from domiciliary care allowance to disability allowance is being addressed in the implementation of a more refined scheme. It is hoped that parents will get longer advanced notification of the application process for the disability allowance which comes into effect when the young person reaches the age of 16 years and this should give them time to get the relevant reports. Parents need to understand that domiciliary care allowance and carer's allowance and disability allowance are very different entitlement with different criteria under the social welfare legislation. Disability allowance is not an allowance for people who require care, it is an allowance for people who cannot work as a result of his or her disability, whatever it may be. There is a distinction between domiciliary care allowance and disability allowance, and parents who would have received a domiciliary care allowance for their child under 16 years may find that on reaching 16 years, their young person does not qualify for a disability allowance. Parents must be educated about these distinctions.

Obviously we have been discussing how medical assessor in the Department of Health deal with those with rare disorders. We have raised points about the awareness of general practitioners. The 40 or so medical assessors are not specialists in any particular field. They need to be able to find information on the impacts of the various different rare disorders. There are 6,000 plus people with rare disorders and the assessors have the same problems as other medical professionals in order to be able to assess the impact of the rare disorder on a child. The domiciliary care allowance is not based on a particular diagnosis but is based on the impact of the diagnosis. They too would benefit from a national centre for rare diseases information office. I would wholly endorse more resources going to the Genetic and Rare Disorders Organisation, GRDO, which is a voluntary organisation, as we would benefit from having somebody else to refer to.

Professor Eileen Treacy:

I think a number of issues have been addressed but I would like to speak on three issues.

First, information for GPs is critical as this is the point of care for all patients. Members may know of a survey in 2008 which found that 73% of GPs do not know where to get that information. This is crucial. We are one of the very few member states in Europe that do not have a central information office linked to Orphanet. This is not a difficult target to meet. This central information source can provide the necessary information by a phone call or e-mail to a GP and to all providers as well as patients and families. It is a false economy to say we do not have money for this service. The service would be highly cost effective and I am amazed that money is not put forward in this programme for prevention. However, no economic evaluations has been done.

We hear about the patient journey, a patient that can have ten consultations. Out of 330,000 patients, all it would cost to provide this service is the cost of 100 consultations per year if it is financed and funded through a service delivery such as a hospital. This is something that we think would be highly cost effective.

Education is totally feasible. I am pleased to see Dr. Paula Byrne is in the Gallery. Dr. Paula Byrne is leading out on a UCD module for teaching GPs. A number of people lecture in this module which is supported by iPosi. We would hope that all students and trainees would get teaching and education on rare diseases. I know from the medical students that they do not know about rare diseases. Learning about rare diseases has not been prioritised and it has not been funded. On the issue of training for the future, I am pleased to say that the royal college and the HSE medical education and training office under Professor McGovern has set up a review and a module to look at further needs. There is a call for more funding for genetic specialists and providers in this area. We can make recommendations. What we need is implementation and financing from the Government. The recommendation will not be implemented unless there is funding.

There must be appropriate and quality information provided through the office and governed so that patients are not put on the wrong journeys and put on inappropriate clinical trials. In addition, I fully support the fact that the patient organisations and helpline have to be funded and supported. This is one of the calls for the key indicators for the programme, across member states. That could be linked to the central information office and we would fully support that function.

Deputies Kelleher and Ó Caoláin asked quite a lot of questions. The last issue that must be addressed is our role in the European reference network. This comes back to the question of research as well about clinical cross-border care. I was asked what we can do in terms of research in Ireland. We have certain champions in Ireland and we have wonderful opportunities with the new projects, the RDEC, to develop pharma and research. We cannot work on every rare disease. We know from the EURORDIS survey that the three main indicators of success in research are patient empowerment, working with patients, second, having registries and the third major issue is collaborating in a reference network. We collaborate with a group of investigators in different countries and this would be facilitated by the reference networks.

We are working on a number of projects in this area. That is the European position that we must move forward on.

The last question that I must address is the issue of treatment abroad. We have heard from a number of families that there are difficulties in gaining access to the scheme and hope to be able to address the matter through the clinical care programme.

One issue that I wish to raise is the fact that we urgently need centres mapped out and designated. We also need to know if they meet the quality criteria and whether there is a reference centre or a centre in Europe. I believe that a patient should be referred to the appropriate specialist centre in Ireland to see whether we have the expertise but that is not something that can be done in a Department. It is the clinicians and specialists who would know whether they are competent enough to provide a treatment. There might only be one case of a particularly rare disorder every five years so we would not have the expertise. Clinicians should have the responsibility to say "Yes, this patient should have access". I hope the initiative will be developed with the national contact point but the person has only recently been appointed. Training must proceed and we will also work with the HSE and the individual to improve that pathway. I thank the committee for their attention and hand over to my colleagues who wish to make a few points.

11:15 am

Dr. Seán Ennis:

I shall continue with the points made about education. One of the things that was not mentioned about Dr. Paul O'Byrne's module is that we are leading Europe on that front so we can make an impact from an Irish perspective.

Let me return to the discussion on whether we are capable of research. In my generation one always had a go at things but when the younger generation tackle these conditions they adopt the view that they can solve the issue and are disappointed if they do not succeed. We have a cohort of individuals that are well able to tackle rare diseases. However, no one country can tackle all 7,000 rare diseases so we collaborate with our colleagues abroad when and where we can. In an Irish context such an environment allows clinicians, scientists, bioinformaticians, etc., to interact and give feedback and is a more natural situation for a small country like Ireland. That environment works very well and there are benefits to be gained from a lot of people knowing each other and from having worked together.

With regard to the cost of €1.5 million, in one sense the figure seems alarming and probably is alarming but not if we are talking about sharing testing with Europe. No one country can have all of the expertise in genetic testing. There are reasons that some genetic tests are sent abroad but some of them can be repatriated to Ireland which would boost the national service.

Ms Anne Lawlor:

I am so grateful to have had the opportunity to listen to the debate. However, I cannot be all things to all men and my position with GRDO has only existed since December. I work full time on a voluntary basis and my other hat is that of chairperson of the 22Q1 Ireland Support Group. Individually these conditions are rare but collectively they are common, there is a huge overlap with disability and the issues are the same such as medical, educational, social, psychological and psychiatric.

Someone asked a question about the psychiatric angle so I shall tie it to the question about the ability to carry out research. The 22Q1 Ireland group is totally voluntary and has embarked on its seventh research project in this country. The latest project is with the genetics centre in Trinity and concerns the link between schizophrenia and 22Q. We undertook the project because one in four children born with 22Q will develop schizophrenia and will also have a range of mental health problems. Research is doable because an international 22Q brain consortium exists and I know all of its researchers. Even though all of this work is done on a voluntary basis one should never underestimate the power of patient groups and what drives them. We love our children. As we heard from Mr. Declan McPhillips, we will do anything to help them and the issues are the same.

Most of the points have been covered but I wish to say one thing about GPs. The problem often lies with the fact that no-one connects the disparate symptoms so awareness among GPs must be raised. When one goes to a GP with disparate symptoms there may be an underlying cause. My daughter had dozens of disparate symptoms but she was not diagnosed until she was 15 years old. Accurate information is not available and that is why I helped set up the group. I hope that I have covered all of the points.

Photo of Jerry ButtimerJerry Buttimer (Cork South Central, Fine Gael)
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Before formulating a response the committee will reflect on the testimony given this morning. We must reflect on the issues that arose from the presentations and mobilise a proactive response from the Department and the HSE. All of that work will take place over the next couple of weeks.

I thank all of the delegations for attending and also the people in the public Gallery. I wish to advise members that we will have a photograph taken on the plinth at the conclusion of the meeting and extend an invitation to the people in the public Gallery to join us.

I apologise to members that the meeting scheduled for next Tuesday evening was cancelled during this meeting. That is why we did not have it at the beginning of our meeting but I am sure the leath lá is welcome.

The joint committee adjourned at 11.50 a.m. until 9.30 a.m. on Thursday, 6 March 2014.