JOINT COMMITTEE ON HEALTH AND CHILDREN debate -
Wednesday, 29 Feb 2012

Rare Diseases in Ireland: Discussion

Chairman

I welcome the delegates, Ms Avril Daly, Ms Margaret Webb, Mr. Michael Nolan and Mr. Andrew Kehoe. Today, 29 February, is international rare diseases day, an event held once every four years. Rare diseases could affect up to 8% of the population. Many of the conditions are complex, severe, debilitating and can significantly reduce life expectancy.

Ireland is supportive of recent EU proposals on rare diseases, in which EU member states are recommended to develop plans or strategies by the end of 2013. We are in the process of doing this work. Last April the Minister for Health established a national steering group to develop a policy framework for the prevention, detection and treatment of rare diseases. The steering group is expected to submit its plan for action to the Minister in the latter half of this year. I hope this committee will receive a report from the group later in the year.

Against this background, I welcome the following: Ms Avril Daly, chairperson of the Genetic and Rare Diseases Organisation; Ms Margaret Webb, chairperson of Irish Platform for Patients' Organisations Science and Industry, IPPOSI; Mr. Andrew Kehoe, chairperson of the Rett Syndrome Association of Ireland, and Mr. Michael Nolan of 1p36 Deletion Syndrome Ireland. I thank Deputy Ó Caoláin who sends his apologies for proposing that we hold this meeting. I welcome those in the Visitors Gallery and those watching the proceedings live on the UPC television network.

By virtue of section 17(2)(l) of the Defamation Act 2009, witnesses are protected by absolute privilege in respect of the evidence they give to the committee. If they are directed by it to cease giving evidence on a particular matter and continue to so do, they are 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 asked to respect the parliamentary practice to the effect that, where possible, they do 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.

Ms Avril Daly

I thank the joint committee for inviting us to present on the subject of rare diseases which is a massive one for Ireland and other countries in Europe. I am chairperson of the Genetic and Rare Disorders Organisation, GRDO. I also represent patients on a steering committee put together by the Minister for Health to examine the establishment of a national plan. I am also working on a task force and represent the GRDO on the council of national alliances for the European organisation of rare diseases, EURORDIS.

Ms Margaret Webb

I thank the joint committee for giving us the opportunity to present on international rare diseases day. In the European Union a rare disease is defined as a condition affecting fewer than five in 10,000 people, or 0.05%, at any one time. Although precise data for the prevalence of rare diseases have not been collected in Ireland, the Department of Health recognises that 6% to 8% of the population could be affected by a rare condition at any one time. This is a significant number of people. The figures are based on estimates by the European Committee of Experts on Rare Diseases. Approximately 80% of rare diseases are genetic in origin and most are life threatening or associated with significant disability. Some 50% to 75% of rare conditions affect children, of whom it is estimated that 30% will die before the age of five years. Therefore, the seriousness of the conditions cannot be underestimated.

It has been suggested there may be a higher prevalence of rare diseases in Ireland owing to our genetic make-up as a small island nation. Taking a percentage of 6% to 8% and the census 2011 figures into account, as many as 350,000 citizens could be affected by a rare condition during their lifetime. This represents by far the largest patient constituency in the country, yet rare diseases are largely ignored and misunderstood. This is understandable, however, when we consider that there are between 6,000 and 7,000 known rare diseases and, according to the European database on rare diseases, Orphanet, approximately five new conditions are described each week. There is a large number of conditions but a small number of people are affected by any one condition. The impact on people is huge, not just on the person diagnosed but also the family.

Many conditions are complex and associated with physical, sensory, intellectual, social, emotional and genetic consequences. A diagnosis often goes beyond the immediate symptoms experienced by the person affected and can in many cases have effects on the entire family unit. This can lead to the development of related financial and psychological issues. Rare diseases impact on the whole family. In addition to the symptomatic person, carers, siblings and other relatives at high genetic risk of contracting the condition are all affected. Many rare diseases require a multidisciplinary approach, involving a range of services at each stage of the affected person's life. As we will hear, rare conditions are often very difficult to manage and those affected can encounter enormous difficulties in finding adequate treatment. Often people with rare conditions are unable to participate in work or education owing to their symptoms. However, for a significant proportion whose condition does not affect their ability to participate, the lack of appropriate supports excludes them from education and employment opportunities. It is also acknowledged that many restrictions and difficulties are encountered in the provision of many forms of insurance policy, including life, motor and medical insurance, as well as difficulties in acquiring mortgages by people with genetic and rare diseases.

Ms Daly will describe the diagnostic journey.

Ms Avril Daly

Of those affected by a rare condition, patients with an accurate diagnosis are generally luckier. Patients and families affected by rare diseases can wait years for a correct diagnosis and a worrying number receive an incorrect diagnosis before the correct one is made. This has serious implications for both life expectancy and quality of life and is leading to an inefficient use of an already overstretched health service. A recent survey carried out by GRDO shows that 13.3% of patients waited over ten years for a diagnosis and that 37.2% received an initial incorrect diagnosis. We know of people who waited 21 years for a diagnosis. Any delay in diagnosis or a misdiagnosis can result in multiple and unnecessary appointments with doctors and consultants, incorrect treatments and diagnostic tests and significant distress to patients and families.

The experiences of patients and their families on the path to diagnosis vary greatly. The experiences raise concern about equality of access, depending on where one lives in the country. Many of those affected worry about the level of awareness of rare conditions among health care professionals, including GP and local community health services. In paediatric cases it is the parents who are the experts informing health care professionals. There is a delay of 15 months in awaiting a diagnostic test at the National Centre for Medical Genetics, NCMG, and samples must be sent abroad. In conjunction with the NCMG, we estimate this costs the State €1.5 million a year.

We are here to discuss the need for a national centre for rare diseases in Ireland. Currently in Ireland there is no central point of information for patients or medical professionals in the field of rare diseases. Where patient groups exist, the information flow about the condition and awareness is greater, but there are thousands of patients with no group to represent them or inform the medical professionals about their conditions. They can feel lost in the system and completely isolated, which is a burden they must bear in addition to that of having a serious condition.

In Ireland, the National Centre for Metabolic Disorders at Temple Street Children's Hospital and the National Centre for Medical Genetics, NCMG, at Our Lady's Children's Hospital, are seen as centres for rare diseases. However, both are severely underfunded. In fact the NCMG does not have its own governance or budget, and is dependent on the budget of the hospital. This gives rise to difficulties and is a significant problem. We are not training any new clinical geneticists because we do not have the time to train them. We are well below the European average. We have six genetic counsellors and four consultants, in contrast to the staffing in Northern Ireland, which has 14 consultants and 28 counsellors. That is the difference.

The model of other centres of expertise such as the National Centre for Hereditary Coagulation Disorders show how a co-ordinated approach to care leads to better outcomes for patients. Centres such as this provide valuable training and information to professionals and the public. It should be recognised that for many rare conditions, sufficient expertise does not exist in this country. That is common throughout the European Union. In order to prioritise rare diseases as a whole in the health system in Ireland and address the current information deficit among health care professionals in respect of rare disease, networks for provision of equity and safe care to all patients 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, ERNs.

The transition from paediatric to adult care needs to be managed effectively and seamlessly as this transition is a highly sensitive time where teenage patients and their parents need additional support. This should be co-ordinated centrally. 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. Access to treatment is an issue. Vital to the empowerment of patients with rare disease is access to appropriate medicines and treatments. Respondents to the GRDO patient experience recent survey reported many difficulties in obtaining appropriate treatments and medicines: 41% do not consider that they have access to the best medical care for their condition; and 64% state that access in Ireland to medicines-treatments available in other countries would make a great difference to them. Trying to obtain medicines and treatments can be distressing for many patients and their families. There is no licensed treatment available for some conditions and some are prescribed off-label medicine and they must explain that to their doctor. Significant inconsistencies in access to medicines remain, particularly in the area of orphan drugs, and this is the experience throughout the county at this time. We are very concerning about it.

I will hand over to my colleague, Ms. Webb.

Ms Margaret Webb

Our appeal to the joint committee is in regard to two main issues. We have given an overview of living with a rare condition. It is a complex area. It requires joined-up thinking and the collaboration of all stakeholders in order to move the process forward. For many years three patient umbrella groups which together represent more than 40 different patient organisations have been working on this issue. The task force that has been set up has worked with these patients' organisation within the EU on advocacy to establish national plans and strategies to provide better care for patients affected by a rare condition. Countries like France, Denmark, Spain, Portugal, Bulgaria and Romania have all developed national plans that have demonstrated benefit to patient outcomes. Most significantly at this time, they have also shown savings. The French will launch their second national plan today.

Our learnings from other member states provide examples of how best to approach the development of such a plan and as a small country this should be done more easily than others who have decentralised systems. We can also learn from the experience of others. Sometimes there are advantages in coming late to the table. In 2009 the EU recommended that all member states have a national plan in place by 2013. The Government has signed up to this commitment, and for that we are thankful. We are working with the Department of Health, the HSE, the Institute of Public Health, the Health Research Board and the many patient groups represented by the three umbrella groups, the Genetic and Rare Disorders Organisation, GRDO, the Irish Platform for Patients' Organisations Science and Industry, IPPOSI, and the Medical Research Charities Group, MRCG, on the development of a national plan which will go for public consultation later this year. Following the consultation process and completion of the plan, we then need the plan to become reality, not just a piece of paper. For this, the national plan for rare diseases will require an agreed timeline and appropriate resourcing.

Second, we strongly believe that a clinically-led national centre for the co-ordination of information and the establishment of care pathways for patients is absolutely vital and represents an urgent need. We have in conjunction with stakeholders submitted a business plan to Dr. Barry White, outlining the benefits such a centre could bring and the cost benefit that would result in the health care system. Quite simply, a national centre for rare diseases is integral to the development of care for patients affected by rare conditions.

We ask members to work with us to ensure that the national plan for rare diseases is given priority and that the development of the national centre for rare diseases is implemented in the shortest possible timeframe.

We thank members for their time and attention.

Chairman

I thank Ms Avril Daly and Ms Margaret Webb for that very interesting and challenging presentation. I now call Mr. Andrew Kehoe, chairperson of Rett Syndrome Ireland to address the committee.

Mr. Andrew Kehoe

I thank the Chairman and members for the opportunity to speak to the committee today. I am the chairperson of the Rett Syndrome Association of Ireland. My daughter has Rett syndrome. Rett syndrome is a neurodevelopmental disorder which primarily affects females. It is caused by a mutation of a gene on the X chromosome and in most cases it is random and rarely inherited. The incidence is estimated to be somewhere between one in 10,000 to 15,000 female births, so theoretically two to three cases could be expected in Ireland annually. It is diagnosed by neurologists and geneticists using clinical observation and a blood test. It is often misdiagnosed, for example, as autism, developmental delay or cerebral palsy when clinical observation only is used. That is why the blood test is critical.

There are four recognised stages to the condition. Many girls, including my daughter, appear to be normal from birth up to as late as 20 to 22 months. The second stage is a regression phase where the child looses abilities gained up to this point, including the loss of speech, functional hand use and mobility in general. The third phase, or plateau phase, is where the child's condition levels off after the regression phase, so that whatever abilities they have, will remain for a number of years. In the final stage, stage 4, the child's abilities may deteriorate further, particularly in physical mobility. We believe firmly that they arrive at this stage because they do not get the therapy and treatments they need after the regression phase.

The symptoms of Rett syndrome include global apraxia, which is the inability to perform tasks or movement on command even when the instruction is understood. They have no verbal communication, except in some rare cases and sign language, pointing or touching devices are usually of no use because of loss of hand function. Some girls never walk. However, others learn to walk but lose that ability, particularly at stage 4. Epilepsy is common in 60% to 70% of cases and can be severe. They also experience breathing irregularities, dysfunction and gastrointestinal complications. Many of the girls are tube fed. Scoliosis requiring surgery is common in a high percentage of cases. The severity of the condition can vary from girl to girl but even in its mildest form, the girls are left profoundly and multiply disabled, requiring full-time care 24-7, 365 days a year for the duration of their lives.

The prognosis is not fully known because Rett syndrome is a relatively new syndrome, but there are recorded cases of women in their 70s in Sweden and the US. As far as the association is aware, the oldest Irish woman with Rett syndrome is 42 years old. Despite the myriad of disabilities I have listed, the girls are still capable of lifelong learning and having happy and fulfilled lives. They bring joy to their families and all who come into contact with them.

The girls and their families face many problems in addition to coping with the disability. It can take years to obtain a diagnosis, an issue referred to by Ms Daly and Ms Webb. We ask that the blood test for Rett syndrome be made mandatory for any female child presented to a neurologist. This change could reduce the diagnosis time dramatically. At diagnosis stage, many families are given little or no information and are left to their own devices as they seek to find out about the syndrome. Sometimes the information provided to them about the condition is incorrect, which is worse than not receiving information.

Accessing appropriate and adequate services from the Health Service Executive is a constant battle for all families and the problem varies significantly based on geographical location. Families experience difficulties obtaining incontinence pads, therapies, mobility equipment, communication aids and respite services, to name but a few items. Accessing appropriate school placements and special needs assistant allocations from the Department of Education and Skills is a constant struggle and the problem also varies geographically. Some families have had to resort to taking legal action to obtain adequate placement and services.

Qualifying for domiciliary care allowance, carer's allowance and medical cards is an ongoing issue for all families. For those who receive these payments and rely on them as their sole source of income, they are totally inadequate. Respite services, both home help and residential, are totally inadequate and in many cases unavailable. If we do not look after carers, the State could end up looking after their relatives full-time at a much higher cost.

Facilities in our hospitals to cater for the needs of severely disabled people are inadequate. For example, some hospitals do not have hoists or lack a sufficient number of these devices. Showering tables, changing areas and other simple facilities are also lacking in some hospitals. Families also face waiting times for critical operations, of which scoliosis operations are the prime example. Some girls have been waiting for up to two years for this procedure during which time they are in constant pain and, in some cases, at risk of death.

Service provision for girls once they reach 18 years is practically non-existent and many end up at home full-time until such time as their parents or family can no longer look after them. The absence of an independent inspection or regulation of service providers to the intellectually disabled is a grave concern to all parents, particularly when a child or adult does not have any means of communication.

All of the problems I have cited, and the list is not exhaustive, are experienced by families on an ongoing basis and throughout the lives of their disabled relative. This compounds what is already a highly stressful and pressurised set of circumstances, namely, looking after a totally dependent person full-time for her entire life. As yet there is no cure for Rett syndrome but the additional problems I have cited could be resolved if members of the joint committee and their colleagues in both Houses showed the will to make the necessary changes.

At the height of the boom, when there was plenty of money around, families still had to fight for services. With the recession, further cutbacks are making an already intolerable situation even worse. The only solution is to have the rights and dignity of disabled people and their carers finally given precedent over budgets and resource allocations. Why has Ireland still not ratified the UN Convention on the Rights of Persons with Disabilities which it signed in 2007? Of 153 signatory countries, 110 have ratified the convention, including Iraq, Armenia, Azerbaijan, Bangladesh, China, Haiti, one of the poorest countries in the world, and our nearest neighbour, the United Kingdom. As the parents and carers of profoundly and multiply disabled children and adults, we can only draw one conclusion, that is, that recognition of the rights of disabled people has not been a priority for Governments, past and present, or politicians in general. That is shameful and needs to be addressed urgently.

Chairman

I thank Mr. Andrew Kehoe for his informative and personal presentation. I invite Mr. Nolan of 1p36 Deletion Syndrome Ireland to make his presentation.

Mr. Michael Nolan

I appreciate the opportunity to speak on behalf of Ip36 Family: UK and Ireland. I will speak briefly about 1p36 deletion syndrome before explaining the reason administrative support and funding should be provided for a family support organisation for this rare syndrome. 1p36 micro-deletion syndrome is thought to occur in between one in 5,000 and one in 10,000 births. To put this birth rate in perspective, Down's syndrome, a condition with which most people are familiar, is thought to occur in between one and 800 and one in 1,000 births. The syndrome involves the deletion of a small but crucial amount of genetic material on one of the short arms of the first pair of chromosomes. The earliest case was reported on in the mid-1980s and the syndrome was genetically mapped in the mid-1990s. It is only recent advances in genetics technology that have allowed the condition to be diagnosed with any sort of reliability. As a result, the rate of under-diagnosis is believed to be high in Ireland and elsewhere.

The impact of the syndrome is variable. While there are many common and shared features, every child is different. All children born with 1p36 deletion syndrome require life-long support and care. The syndrome is characterised by both physical and intellectual disability. On the physical end, many children suffer from seizures, heart problems, low muscle tone, vision impairments, limited mobility and gastrointestinal problems. On the intellectual side, the vast majority of children with the syndrome have a severe to profound intellectual disability. Speech is particularly badly affected and is absent from most people with the syndrome, even from those with a mild or moderate intellectual disability and a good understanding of language. Some children can communicate well with sign language and-or assistive communication technologies, while others become effective in making their needs known to their families and care givers in other ways. While all of the children have varying degrees of global development delay, it is important to recognise that our children are not standing still. Given the right interventions and supports, they have the ability to develop at their own pace and to their own potential.

1p36 Family: UK and Ireland is a family to family support group. We are predominantly based online and make use of private Facebook groups and so forth. Later this year, we will come together for a three day family conference in Birmingham where specialists who are familiar with the syndrome will speak and take questions. Most important, families will be able to share their experiences and knowledge. This is the second such conference to be held and it has been organised and financed through the fund-raising efforts of parents of children with the syndrome without state support either in Ireland or Britain. This is a major undertaking for anybody, not to speak of parents of children with significant special and medical needs.

1p36 Family: UK and Ireland currently has 48 members, of whom only four are from the Twenty-six Counties with two from the North. One of our greatest difficulties has been finding support and each other. The National Centre for Medical Genetics has recently undertaken to post a letter from us to everyone on its register who has the 1p36 condition. It is our hope that through this action we will be able to make more parents aware of our support group. However, according to the National Centre for Medical Genetics, as of yesterday, there are only 12 known cases of 1p36 deletion syndrome in the Twenty-Six Counties on its records. This figure indicates a very low diagnosis rate because the birth rate of more than 70,000 in recent years would suggest an average of seven children should be diagnosed with the syndrome each year. If that is the case, many children born over the past decade and previously have either been misdiagnosed or have not had a diagnosis. This has implications not only for the parents of the children in question but also the service providers and medical professionals dealing with them. For example, are children being put at risk unnecessarily because underlying medical problems associated with the syndrome are being missed by their doctors? Are they being placed in the wrong educational or support services owing to a lack of understanding of the condition? Clearly, an early diagnosis is crucial in determining what are the appropriate medical and support services.

I propose to identify some of the additional difficulties our families face in the Irish health system by virtue of the rarity of the syndrome. Mr. Kehoe cited a number of these problems. On the delivery of the diagnosis, most families have been informed of the diagnosis by a doctor who has never heard of the condition before being sent on their way with zero information. I do not say this to attach blame to doctors or other medical staff but to highlight a systemic problem for which a systemic response is required. A protocol must be introduced under which any doctor delivering such a serious and rare diagnosis should be required to take time to read up on the diagnosis before sitting down with parents to deliver the news. This requirement may sound basic but it needs to be raised because it is not currently the case. Every parent should also be provided with an introductory leaflet summarising the available information on the syndrome and directing them to family support organisations. For some of us, it was months or years before we found any of the online supports available for 1p36 deletion syndrome. These supports are hard to find because the information that is usually shared is of a highly sensitive and private nature. The 1p36 family - UK and Ireland, working with others, would be more than happy to produce a leaflet that could be made available by the genetics centres and other hospital paediatric departments, but that will only be possible with State and medical assistance.

Doctors delivering the diagnosis should also be aware of and responsible for making all the referrals necessary to rule out or identify and treat whatever common characteristics of the syndrome the child may have. This does not currently happen. As the doctor is so unfamiliar with the syndrome, it frequently falls to the parent to learn and research themselves what referrals are necessary and then request that these be made. All of this is happening at a time of huge emotional upheaval and stress.

The unfamiliarity of doctors with the syndrome continues to cause difficulties during the very many hospital visits that ensue. Whether parents are bringing their child to a consultant's clinic, to hospital for an operation or to an accident and emergency department, 99% of the time they are met with a blank face and asked what is 1p36 deletion syndrome. Each of us could probably talk for half a day on what the syndrome involves, but we are lay people. We often do not know what is relevant to mention and in what context when talking to the doctors. These are often highly stressful situations and it can be difficult to remember and think. We ask ourselves should we mention all the things we know our children have, the things they are suspected of having, and the things we do not know yet but could develop in the future.

The syndrome is rare and we have to accept that even without the current financial constraints on our health services, it is not realistic to expect all doctors to be familiar with every rare syndrome. Let us accept that parents will continue to be the experts on the syndrome and on their own children, but let us enable them to answer the question that they will continue to be asked by pretty much every doctor they meet. Parents should be equipped with information from the start and then there needs to be a structure put in place that keeps them up to date.

We are talking about a syndrome that was discovered relatively recently. Very little research has been done to date, some is being carried out at present and much more is needed. Within our family support forum we can already see that the existing medical literature is incomplete. Features of the syndrome have come to light within our small group of families that are absent from the official literature, such as obstructive sleep apnea and immune deficiency. Parents need to be updated so that they can request any follow-ups that might be necessary and so that they can inform doctors of the latest evidence should the need arise.

A family support organisation, working with an official authority, is vital to guard against the isolation that comes with rare syndromes, and to support parents practically to help the medical professionals do their jobs. Not every parent will have the time, energy or capacity to take on this role unsupported, indeed, I do not believe any parent will. Some funding needs to be made available so that the burden of this work, including the significant administrative burden, does not fall solely on the families themselves.

In conclusion, we need assistance in further developing an organisation to raise awareness and disseminate information amongst health professionals, so that they can deliver diagnoses in an appropriate way, so that they are aware of all the referrals and tests that should be ordered and ultimately, so that they can better manage the care of the child. The organisation should also be a point of contact for families who have had recent diagnoses and for service providers, so that they can better equip themselves in dealing with people with the syndrome.

Chairman

Thank you for sharing your experience and for offering us some excellent suggestions. I would like to acknowledge that in the Visitors Gallery we have Sian O'Neill, associate director of Shire Pharmaceuticals, Carl Gibney from Fleishman Hillard International Communications and Declan McPhillips, Paula Connolly, Alan Connolly from Rett Syndrome Ireland, along with Stephen Tighe, Kathy Tynan, Karen Pickering and Patricia Towey. I welcome you all.

I call on Deputy Kelleher, Deputy Colreavy and Senator Crown to ask questions.

Deputy Billy Kelleher

This is probably a learning process for many of us here who do not necessarily have the medical expertise. The task force is a central plank in the Government's policy of bringing forward recommendations on what is required and the timeframe for the establishment of a national centre for rare diseases. As they are rare diseases, there is a lack of knowledge in the broader medical system, from GPs upwards, and on the administrative side in support provided by the HSE and information packs for parents and doctors.

If we are to establish a national centre for rare diseases, is there not a role for a broader European centre so we can pool all our expertise? As there are few people involved in this, it unfortunately falls down the political ladder. That is the difficulty I have experienced as a public representative for many years. If a European centre existed whereby pooling resources in diagnostics and supports, in terms of information and broader advocacy groups, that might be of assistance to states when trying to establish their own internal systems. Perhaps the witnesses could expand on that.

GPs provide the front line service. If there is a misdiagnosis or no diagnosis at all, how do the witnesses envisage things moving beyond the GP? The patient could be left with a misdiagnosis for many years. Is there some mechanism in place for a pooling of resources to GPs? We have often spoken about the establishment of primary care units but we do not expect a GP to have the knowledge of every aspect of medicine. It is fine to have a national centre, but if a patient is not referred to the national centre, then it is of no benefit. I wonder how we can have a trickle down effect from a national care centre to primary care units, at least on a regional basis, so that there might be some closer supports to GPs, patients and parents of patients.

What country of comparable size has the system towards which we should aspire? I am not just referring to a national centre for rare diseases but supports for GPs in dealing with patients, diagnostics and information flow, as well as supports for parents and the patients themselves. Is there any country with a system in place that we should examine?

Mr. Nolan and Mr. Kehoe referred to supports such as the domiciliary care allowance, medical cards and the basic equipment deficit for many patients. There are some parts of the country where excellent support is available, yet one can cross a county border and there is almost no support whatsoever. Would the witnesses see a role for the national centre for rare diseases in streamlining that, or would it be administered through the HSE as is the case at present? Seven directorates have been set up for the HSE. Have the witnesses a view on the issue of rare diseases in the restructuring of the HSE itself?

Deputy Michael Colreavy

I thank the witnesses for their presentation. It was very informative for me. I would like to record apologies on behalf of my colleague, Deputy Ó Caoláin, who is Sinn Féin's health spokesperson. Deputy Ó Caoláin proposed this special session of the committee to mark International Rare Disease Day. He cannot be with us as he is attending the funeral of the father of his constituency secretary in Monaghan. He extends his apologies and would very much like to be here.

This session of the health committee is a very important event because we need to raise awareness about rare diseases and to highlight the needs of people with those conditions. Most importantly, we must look at ways which ensure that those needs are met.

We welcome the representatives from the national rare disease task force, the Genetic and Rare Disorders Organisation, Rett Syndrome Ireland and 1p36 Deletion Syndrome Ireland. Deputy Ó Caoláin recently hosted a delegation from Rett Syndrome Ireland and I briefly met with it before this meeting. Its representatives made a very clear presentation of the huge difficulties facing children with rare diseases and their families. In many cases something new is not what is needed, rather what is needed is access to services already in place.

We are convinced from those briefings that it is absolutely vital that awareness of rare conditions is raised, especially within health and social support services in this country. It was clear from the briefing that the parents and carers of children with Rett syndrome and other physical and intellectual disabilities are facing huge barriers within our health services, which were described to us today, as they try to access the supports they so badly need. Our focus has to be, on a cross-party basis, on ensuring those obstacles are removed.

I note the statement in Ms Daly's presentation that in paediatric cases it is the parents who are experts informing the health care professionals. It is very true and parents have and will testify to the fact. I know from my experience that often health professionals will profess to believe that, but in practice do not have the time, inclination or training to deliver on this.

We need to ensure the most accurate and speediest possible diagnosis and clear pathways of care, maximum information and networks for those with rare conditions. For these reasons, the proposal for a national centre for rare diseases should be supported. We agree we need a national plan for rare diseases which has a timeline and is resourced, otherwise it would simply create false hope and expectations.

There is a risk that because we are talking, by definition, about small numbers of people when dealing with rare diseases, representative groups might feel they have to knock quietly on the doors of Government. I am heartened today to see that although the delegation represents small numbers of people it is knocking very loudly.

It is our job as politicians to make sure policy and plans are translated into action. The delegation has a role in advising us as to whether those actions are doing what they should be doing. I do not have questions for it, rather it should have questions for us. I thank it for its presentation.

Senator John Crown

I also thank the four speakers. When one has been blessed with healthy children one realises the heroism people have to exhibit every day in dealing with children who have various degrees of severity of neurodevelopmental and other congenital, genetic or early onset acquired disorders. What such parents have to do humbles us on a daily basis. It is up to us to try to make sure we do everything we can to make that very difficult passage as productive for the child and peaceful for the parents as it can be.

I have a number of questions and I would like to make one or two points. I echo the call the delegation made about the underfunding of the genetics testing service. The reality is that the waiting list is, in many cases, to see a counsellor and have a blood test. There is no rational reason to have a waiting list of a year and a half to do that. It is not as if an operating theatre or a critical resource for which there is a well defined structural bottleneck is required. I have professional experience of this because we have to send a small number of patients for genetic testing for breast cancer. One realises after a while that one is telling people they are going on a waiting list for a blood test. It tells one something about the structure of the health service that that occurs. It is insane.

A superficially different but allied issue is the question of medical cards, to which the delegation alluded. The two Houses and this committee heard a fairly constant refrain that something has been going on with medical cards over the past while. For those of us who do not have a dog in the fight, it looks suspiciously like a deliberate attempt is being made by some person or persons in some organisation or organisations to limit the State's spend on aspects of health care by turning the faucet to the slow position for the provision of medical cards.

I would be interested in hearing whether the delegation has any evidence that people who are directly affected have difficulty getting or renewing medical cards. Are there any statutory provisions whereby people with well recognised neurodevelopmental problems and other uncommon and genetic syndromes can, by right, get access to medical cards? Are they still locked into means testing arrangements? That would be extremely cruel and wrong.

My next point intersects with the world of adult medicine and I have a strong suspicion what the response will be. What is the general provision of social support services for people based at home with a sick, disabled or developmentally challenged child in terms of domiciliary help, physiotherapy, social work, home help, etc.?

Mr. Nolan referred to doctors not being familiar with certain cases which rings true. We expect people to be far too generous. I have a somewhat unpopular and countercultural view on this. We should have primary care paediatricians. We are asking GPs to be too expert in many areas. They have to be experts on chronic degenerative diseases of the elderly and sharp enough to look for subtle hints of syndromes in young children.

We need to have a fundamental rethink about paediatric medicine in this country. It is not some swanky, hospital-based, exclusively specialist area. It should be part of primary care. Primary care doctors should be trained in paediatrics and there should be easy access to them without having to go through the gate keeper of another doctor acting as a GP.

On a national rare disease centre, I ask the delegation to tease out the issue. I am not sure whether it suggested that should be a centre where the treatment and ongoing management of children and young adults will take place. That would, with respect, not be the best way to handle the issue. I could see more of an argument for national or regional centres for neurodevelopmental diseases, some of which are common whereas others are rare. The skill set for dealing with diseases and their sequelae would be similar across a range of diagnoses of various degrees of frequency.

I cannot let the moment pass without saying that this is one of many issues which leads us to the inescapable conclusion that we can no longer let delays in the provision of a national children's hospital be used as an excuse for failing to develop services we need now. I hope the decision regarding the children's hospital will be reached very quickly.

Chairman

As the Senator knows, the issue of the national children's hospital will be on our agenda for next Thursday's meeting.

Senator John Crown

It should come up again and again until it is resolved.

Chairman

Yes. Senator Crown has the support of the committee on that.

Ms Margaret Webb

I will deal with some of the domestic questions. I thank Deputies and Senators.

Chairman

We will revert to other members.

Ms Margaret Webb

Okay. I will start with the question on GPs. It is an interesting question and one we are very much aware of. There is a deficit in terms of training GPs on rare disorders. We have begun a small initiative which started in UCD - I understand a session is taking place this afternoon - and are working with medical students who are studying an elective on rare diseases for the first time. It is a first step but it is beginning to put rare diseases on the map for medical students.

We hope it is the beginning and may then move forward into GP training. We do not expect GPs to know about rare diseases but we hope they will know how to access information. It will be one of the functions of having a national centre for rare diseases. It will not be the be all and end all in the provision of treatment. However, it will be the portal to which people may go in order to discover what they should do and how they can access services. It will be an information conduit, rather than a treatment centre.

It is inevitable that incidences of some rare conditions may only occur once or twice a year. It is unrealistic, therefore, to expect that there will be a clinical lead in the country who is an expert on particular conditions. Where a condition is ultra rare, the medical and clinical support will come through a European network. As a result, there are a number of strategies involved. We are looking at establishing a national centre and then working beyond it with European reference networks which can provide information on ultra rare conditions.

It is not unusual to have a rare condition. Such conditions are isolating in nature and give rise to challenges. An issue was raised in respect of medical cards. I urge the way in which these are provided in respect of rare conditions be reviewed. One will automatically obtain access to a medical card if one contracts certain rare conditions. However, I have worked on a particular medical condition, epidermolysis bullosa, one of the most severe with which children can be born. Parents of children with this condition are obliged to reapply for their medical card each year, which places an additional burden on them. Because of the severity of certain medical conditions, there should be an automatic right to a medical card. I, therefore, ask that this issue be reviewed.

Ms Avril Daly

One of the issues which arises is that if one has a condition which is not listed on the system, one is not entitled to a medical card. One of the major difficulties is that because there are 6,000 or 7,000 rare diseases, this is going to be an ongoing issue. In order to obtain their medical card and other entitlements, patients with the rare condition, Friedreich's ataxia, who are wheelchair bound must prove that this is the case by showing that they cannot cross a room. This places stress on them. It is extremely humiliating for patients to be obliged to prove that they have the conditions to which we are referring.

Chairman

Has the HSE attempted to be flexible in the administration of medical cards?

Ms Avril Daly

Not really. It is a long and protracted battle for parents, in particular, but, ultimately, people obtain medical cards.

Senator John Crown

When people have diseases, the natural history of which is not towards improvement, what can be the logic of making them reapply annually for their medical card? These conditions are not going to get better. From the point of view of the use of health care resources, is it efficient to have someone in the health card section spending his or her time assessing those with rare conditions? Is it right to put patients through the torture of being obliged to reapply? This is insane.

Chairman

The Senator is correct. Perhaps we might raise that very point during our visit to the medical card section in Finglas on Friday.

Ms Avril Daly

Deputy Kelleher made a very important point in respect of the European Union. This is probably one of the few areas in which everything has come from it. That people are working together across Europe has benefited patients. As Ms Webb stated, if one considers the position from a collective point of view, one will realise that there are approximately 30 million people in Europe with rare diseases. As a result of the fact that they do not all suffer from the same disease, they must talk to people in other countries, etc., about their conditions. There is an initiative in Europe - the European Platform for Rare Disease Registries, EPIRARE - which is designed to develop registers of people with rare diseases that will be accessible throughout the European Union. By this means, we will be able to obtain information on all of the patients who suffer with particular conditions. As it would not be realistic to have registers for specific areas, we are developing broader registers into which we can feed at national level. Any national centre would be a portal for this. There is a register - Orphanet - which is funded by the European Union and which has been very successful. It contains information on all of the rare diseases known, the research being done on them and the clinical trials taking place. Ireland was approached in the context of establishing an Orphanet register. As a result of not having a central national point, our Orphanet register is being developed and managed through Manchester. This is one aspect which would be catered for if a national centre was established. Essentially, what we are discussing is having an information portal. We are realistic enough to know, however, that there are centres of expertise throughout the country. If we know about them, a central point could provide information not only for patients but also for clinicians. That is the kernel of the issue. If a national centre was established in the shortest possible timeframe, it would help to alleviate many of the issues relating to what we term the "diagnostic odyssey".

Mr. Andrew Kehoe

Deputy Kelleher referred to GPs. He is absolutely correct to state no parent would expect a GP to diagnose whether his or her child had a rare disease. That is not really where the difficulty lies. Parents can go to their GP whenever they wish - they are not obliged to wait for appointments - if they suspect there is something wrong with their children. In most cases GPs will refer parents to the health service and that is where the problem begins. The next problem they will encounter is, potentially, a six to 12 month waiting time for an appointment with a neurologist. That is where the real difficulty lies. The issue relating to GPs is a major one.

Deputy Billy Kelleher

I am concerned about the fact that GPs may not be competent in sending someone to the correct consultant or neurologist in the first instance. A great deal of time could be lost before a person is referred to the right professional.

Mr. Andrew Kehoe

Senator Crown inquired whether the services and supports available to families were sufficient. As he probably noted, my presentation was in two parts. The first involved an explanation of Rett syndrome, while the second focused on highlighting the inadequacies in the provision of services and supports for families. There is a major problem in the case of the latter. Families are not seeking sympathy because their children have disabilities. We live and cope with that reality on a daily basis. Caring for a child or an adult 24 hours a day, seven days a week, 365 days a year is a massive task by any standard. If one had a magic wand and could solve all of the other problems, it would still be a massive task. Unfortunately, it is dramatically compounded by all of the other issues involved. I am not just referring to rare diseases; this is a disability issue. Any child or adult who is disabled will encounter the problems we are highlighting. That is the elephant in the room and it has prompted me to ask why Ireland has not signed up to the UN convention.

Mr. Michael Nolan

I underline the point on there not being a specific problem with regard to GPs. On any occasion on which we dealt with our GP, they sought to follow our lead, have us identify where we thought the problems lay and then referred us to the relevant consultant. It is at the consultant's end that the problems arise, particularly in the context of the initial waiting list.

Reference was made to blood tests. We obtained the results of our son's blood test relatively quickly which indicated that he had 1p36 deletion syndrome. We were then informed that there would be a 12 month wait before we could see a genetics counsellor. We were given the diagnosis and then told it would be one year before anyone could discuss it with us.

Action needs to be taken on medical and long-term illness cards. As soon as a person is diagnosed with one of these syndromes or diseases, he or she should automatically qualify for both cards. From a personal point of view, our son has qualified for the long-term illness card. The nature of his syndrome means, however, that other illness which require GP visits are more frequent than would be the case for healthy children. We do not have a medical card and are obliged to pay for GP visits in respect of illnesses which occur as a result of our son having the syndrome but which are not part of it. When it reaches the stage that one is given a diagnosis, a medical card and long-term illness card should be supplied.

Under the long-term illness card, one has to wait many months to be given equipment that is needed for a child. I speak from personal experience. We are trying to get our little lad to the point where he can walk. He was prescribed a "walker", a walking frame, around Christmas but we have been told that it will be a long time before he will get the "walker". We will probably lose eight to ten months of potential development in that waiting period. It is a crucial period for him and the early years are crucial for the people concerned.

Senator Colm Burke

I thank the witnesses for their comprehensive contribution. I want to focus on the issue at European level, and this follows up on what Deputy Kelleher said. In February 2011, a cross-border directive passed all stages at European level, which we have yet to transpose into Irish law. That directive gives people certain rights of access to medical care in a country outside their own country if they cannot get it there. It is an important development from an Irish point of view and from the point of view of the witnesses in making sure that people can get access to medical care if it is not available in this country. I want to push through that legislation and ensure it is in place.

With regard to cases where parents have a great deal of information and know the right decisions to be taken, I have dealt with two cases in the past three months where medical advisers had a different view and I found myself in a mediating role trying to progress matters. In both those cases people had to go outside of Ireland for treatment. I do not know if the witnesses have come across this problem. This is something that should be avoided at all costs. These parents are going through a difficult time dealing with the problem and they then find that they are not getting support where they should be getting it. I found that general practitioners very much sat on the fence and did not try to resolve the issues. I am concerned about that. They are the practitioners on whom the parents rely. The issue is about access to information in that people now have access to a great amount of information. Parents are extremely proactive, and rightly so, in that they want to get the best possible treatment and programme for their child, but much more needs to be done within the medical profession. Have the witnesses a view on how that would be dealt with? We also need to progress the co-ordination aspect from a European point of view.

During my brief time in Europe a system was set up to deal with defective toys and we now have a 24-hour RAPEX system whereby if a defective item is identified, it must be notified to all 27 member states immediately. However, in this important area with which the witnesses deal, we do not have the same kind of assistance available that we should have and it is something we should progress. I am aware the witnesses have contacts with organisations outside Ireland. We should work effectively and immediately to develop support systems, if they are not here, with medical people in the UK and Northern Ireland. How do the witnesses consider we can best approach the issue of the lack of support from medical advisers and how that should be dealt with from a national or regional point of view?

Deputy Denis Naughten

I thank all the witnesses for their presentations. As they said, the diseases may be rare but many people have these particular diseases. I was particularly struck by the statistic that three out of ten children under the age of five with a rare disease will die before their fifth birthday. That in itself is as good a reason as any that we should sit up and take note of this. None of us wants to see a child sick or especially to see a child die because it is completely unnatural. Based on that statistic alone, 17 children a week in this country die from a rare disease. It brings home to us how important it is to get a diagnosis and to raise awareness in regard to the issue.

From talking to parents, the single biggest difficulty seems to be the battle to get a diagnosis in the first place. They have to go through a maze of visits to doctors, diagnostic procedures and tests and unnecessary treatments. Parents have been told the problem is all in their heads. The witnesses might comment on what type of awareness needs to be provided to the medical profession. I know of one parent whose child who was given a diagnosis by a paediatrician of having an overly anxious parent and that was at huge cost to the person with the disease, the family, the taxpayer and economy.

Conservatively, it costs €70 million per annum in unnecessary drugs being prescribed to people with a rare disease. That would easily pay for a national one-stop-shop. It is important that is put in place. As one of the witnesses said, treatments only exist for about two in every hundred rare diseases. In those cases, diagnosis and information are fundamental to the people with that disease, at least to be able to manage the disease if it cannot be treated. I hope that from this meeting we can raise some of that awareness, get a national office established and, from there, develop a coherent strategy not only for parents but for the medical profession.

Deputy Catherine Byrne

I thank Mr. Andrew Kehoe and Mr. Michael Nolan in particular for telling committee members their personal stories and the difficulties that have faced not only their child but their families. We meet many people at meetings of this committee and at some meetings one feels totally inadequate about what one is going to say, having listened to the presentations. Mr. Andrew Kehoe said he is not here to look for sympathy but to tell us what support he needs. Having heard the witnesses, this is one of those times where we, as a committee need to examine how we put our thoughts together and lay them before the relevant people, including the Minister. There is a need for us, as a committee rather than as individuals, to have follow-on from meetings such as this one.

I do not have many questions. The medical card issue is appalling. Everybody has spoken about it. Why should children who have a rare disease have to go through the same process as other applicants who need a medical card but whose need is not as great as that of these children? It is to be hoped we may be able to raise some of those issues with the medical card unit on Friday.

It was stated in the report that every parent knows their child. We all have family and some of us have grandchildren and one has a gut feeling about one's child's heath and how he or she reacts. Many times doctors will say that the parent will tell them what is wrong with the child. We have to support the national plan for rare diseases. We have no choice in this and it must be done immediately.

One of the witnesses said that the budget is drawn down from the main hospital fund. What level of funding would that involve in the long run? It was said that it takes more than ten years and sometimes longer for children or people to be given a diagnosis. Is it due to a lack of resources or trained doctors who can examine these conditions, or is it the rareness of the disease that prolongs the time it takes to get diagnosis, which is difficult for people to deal with? I thank the witnesses again for their contributions.

Senator John Crown

The roll-out number of paediatricians of any country in the western world does not help.

Chairman

Thank you, Senator Crown. You contributed earlier. I will take questions from other members of the committee and then come back to the members of the delegation. I ask members to be brief.

Deputy Peter Fitzpatrick

I thank the delegation for attending today's meeting. I have been educated on rare diseases. All committee members appreciate the presentation. It shocked me that 80% of rare diseases have a genetic origin, most of which are life-threatening and associated with disability. A total of 350,000 people in the country have some kind of rare disease. The most frightening aspect is that 50% to 70% of rare conditions affect children and that 30% of them die before the age of five.

I was also shocked to hear that there are as many as 6,000 known rare diseases. It is not acceptable that it takes ten years to diagnose a rare disease. Reference was made to an unacceptable delay of 15 months with the national centre for medical genetics. A cost of €1.5 million for sending samples abroad is also unacceptable. One could ask whether it is possible for a laboratory to be set up in this country. The sum of €1.5 million is a lot of money to send abroad if we have the facilities in this country to do the job.

I cannot imagine the impact on a family when a person is diagnosed with a rare condition. It is important that we get as much information as we can. What kind of difficulties do the witnesses encounter? Do they receive adequate support from the HSE? What kind of medical insurance can one take out for a person with a rare disease? Most people would rather stay at home with their family as opposed to being in hospital or in care. What kind of home help is currently provided?

People may panic once information on rare genetic diseases is highlighted. People will be concerned that their child may have one of the 6,000 diseases. Should they go to their GP first or to a hospital? One of my children has a rare disease. We went to the local GP. In fairness, I do not have anything against GPs but when I brought my child he said that she had flu symptoms. She collapsed that evening and only for the emergency department in my local hospital, the Louth County Hospital in Dundalk, she would not be alive today. As Senator Crown said, it is important to get blood tests. Questions are asked in hospitals and it is important that families are truthful. If one is not too sure of the answer, one should say that. Some of the questions I was asked in the Louth County Hospital were very personal and sensitive. However, they had to be answered. Such questions included whether the child was drinking or if she was pregnant. If one does not know the answer, one is better off telling the truth. The simple reason is that one will speed up the process. It is a difficult situation for a family to accept that their child has a rare disease. I thank the witnesses for attending and ask them to elaborate a little more. I appreciate their presence.

Senator David Cullinane

I thank the four speakers for their presentations and the copies of them that they sent in advance because it gave us an opportunity to raise our awareness of the issues and for us to do research on the area. It is appropriate that we are having the discussion today. I have limited experience in this area although I worked with two families whose children have a rare disease. I concur with Senator Crown's comments. I was taken by the heroism of the family members with whom I have dealt. It is difficult, especially when it relates to children. It is a battle and, as a number of speakers have said, it can be a struggle. Reference was made to barriers that are put in the way of families getting the supports they need. As politicians we must break down those barriers. I will return to the issue in a moment.

Two statements stood out for me in the presentations in terms of how such diseases impact on people. Ms Daly said a person who is diagnosed is considered to be fortunate. I assume that is because it brings certainty because in other cases there is misdiagnosis and people have to wait such a long time for a diagnosis. In itself, that paints its own picture.

The second point was that when a person is diagnosed with a rare condition the impact on the entire family is enormous. I support the need for a national centre and a national plan. I agree that it must be patient centred, but it must also be focused on the family because families need information and support. The primary focus should be the patient but the family should form part of that as well.

The spotlight is on the issue today. We will discuss something else tomorrow and a different issue next week. I concur with Deputy Catherine Byrne's point that we can play our part in terms of the national plan. The working group will seek submissions from the public and a public consultation process will commence in April. It is important for us to find time to be part of the discussions. We are independent of the Minister and the Department but we have a role to play to advocate, not just to listen to the witnesses but to ensure that what is being said feeds into what happens.

It is important that we have a national centre. Senator Crown inquired what the national centre would do. My understanding is that it would focus on information for patients, families and GPs. It would make sense if that existed at a European level as well but that does not mean we do not need a national centre in this country because we do. More crucially, what we require is a national plan that is resourced to deals with people's needs and to provide the supports required. Examples were given of the medical card. It was shocking that people have to reapply for a medical card. That is a practical point we can communicate to the Minister and, I hope, get it resolved.

We were asked why this country has still not ratified the UN Convention on the Rights of Persons with Disabilities. I cannot answer that. It is appalling that we have not. With respect to the Chairman, a recommendation should come from the committee to Government that we must ratify it. There is no reason not to ratify it. We are talking about the rights of citizens with disabilities. We should not just sign such treaties; we should ratify them. I hope a clear recommendation to that effect will come from the committee, if not today then when we discuss the matter further. It is something we should all, collectively, support.

Deputy Charlie McConalogue

I join with other committee members in thanking the witnesses for attending today. My point specifically relates to treatment and medication for rare diseases. I note from the contributions that there are more than 5,000 identified rare diseases yet only 150 of them have marketed drug treatments. The treatment and medication for such diseases depend on drug companies progressing them. The medications will come to the market on the basis of their profitability and the ability of the companies to make money. Because medication for rare diseases will be less profitable that means there is less investment in developing treatments. Is there co-operation internationally on funding for research into treatments for those diagnosed with rare diseases?

Ms Avril Daly

On the point made by Deputy Charlie McConalogue on access to medicines and medication for rare diseases, the orphan drug regulation was adopted in Europe in 1999 to enable the development of therapies for rare diseases and access to them and also to give companies market exclusivity and various other incentives to develop therapies. It is obvious that if one is dealing with a small number of people it does not appear cost effective on paper. However, the development of treatments for rare diseases has led to treatments for more common diseases. It has led to a boom in the biotech industry in the US and the same thing is happening in Europe. It is a very interesting area from that perspective.

We are concerned that when a therapy is approved centrally in Europe we are still one of the last countries to get access to such a therapy. We are in a position where our colleagues in other countries have access and we do not, and in many cases those therapies are developed here. An issue arises in that regard. This is a massive issue which is being dealt with in the discussions on the national strategy but it has more far-reaching consequences than the issue of rare diseases. Situations arise where not many therapies are available for patients, particularly in paediatrics, and therefore off-label therapies are being used. It is a massive area.

A positive perspective is that patients and small patient groups here, who are literally running organisations from their kitchen tables, are developing therapies through research. They are funding research here that has been recognised internationally and is supported. Some very good things are happening as a result of patient groups, particularly in the area of research, which I wanted to mention. I am aware of small patient groups that have therapies going into clinical trials that would never have started had they not got together as patients and developed them. That is an area I wanted to specifically mention.

The issue of European reference networks continues to be raised. Deputy Fitzpatrick may have mentioned it also. When a diagnosis is made of an extremely rare condition a consultant will not know about it but we are trying to implement a system throughout Europe whereby if there is not an expert here or in the United Kingdom but there is an expert in Bulgaria, he or she can be asked to comment, thereby ensuring a flow of information. That must happen with 6,000 to 7,000 rare diseases, as mentioned earlier. These pathways and systems are being developed but they must be supported and unless we have that central point in this country that will not happen for us. It all comes back to that. The mechanisms are starting to be developed. As Irish patients we are very much involved in the process. We are involved in the policy decisions at a European level and we need the members to support that because without it we cannot go any further. It is a priority in that respect.

Ms Margaret Webb

I would like to make a point regarding research. There are approximately 30 members within the Medical Research Charities Group and most of those have an interest in research into rare conditions either because they are solely a rare condition organisation or an organisation that has a broader brief but also an interest in a rare variation of it. There is a challenge, however, particularly for the very small groups. Rett Syndrome Ireland might say it would like to do research into finding a treatment, and that is often what small patient groups passionately want. They want to change the future for their children but there is very little available to help them along the way. The Medical Research Charities Group provides peer support and help of that kind but there is no dedicated funding stream within the Health Research Board or Science Foundation Ireland for rare diseases. For a number of years we have been calling for a dedicated funding stream for research into rare conditions.

Mr. Andrew Kehoe

On the topic of research, Rett syndrome is a prime example of where research into rare diseases, although the numbers are small, potentially could have a major impact on other conditions. Rett syndrome, a neurological disorder, has been reversed in mice. That is a major breakthrough which has significant ramifications for all neurological disorders and because of that breakthrough there is now much more focus on research into Rett syndrome. That is a prime example of why we ignore rare disorders at our peril because research into the rare disorder might find the cure for the more common disorders.

Mr. Michael Nolan

On the point Senator Burke made about enhanced co-operation across Europe and perhaps in Ireland and Britain, an issue the committee might pursue is that the Good Friday Agreement allows for enhanced co-operation across areas of mutual benefit for people living on both islands.

Chairman

Representatives of the Northern Ireland committee will be before us tomorrow and that is something we can raise with them.

Senator Colm Burke

On cross-Border health care, the directive is in place. We need to transpose it into Irish law to make access to services available whether it is in Northern Ireland, the United Kingdom or elsewhere. It is extremely important that directive is transposed at a very early date.

Ms Margaret Webb

I wish to make one additional point. Much of our focus today rightly has been on children with rare conditions but rare conditions are not confined to children alone. Many rare conditions develop as we age. Deputy Catherine Byrne queried the reason for the delay in diagnosis. I met a group of middle aged patients with Alpha-1 some years ago and I asked them how long it had taken for them to get a diagnosis. The patient who won the prize that morning had waited 21 years. We must think seriously about the social and economic cost for people who would have been in the prime of their lives when their health began to deteriorate and what it has cost them personally and the economy in terms of a delayed diagnosis. A delayed diagnosis in certain conditions impacts severely on the efficacy of the treatment when it is received.

Ms Avril Daly

The cross-Border health care issue is an interesting process. The Commissioner, John Dalli, recognised that as an ideal opportunity for patients with rare diseases throughout Europe. There is a sense from the European Commission on health that the question of rare diseases is a priority. It recognises rare disease as a priority and the innovation sector's new Horizon project, which examines research and the funding of research, has stated that rare diseases should be mainstream and they will be for the next six years. We are out of step in that regard but there is a real sense that this area is hugely beneficial not only to the patients but from an economic and innovation perspective, and we must keep that front and centre.

Deputy Byrne asked for clarification on the National Centre for Medical Genetics. The position is that the national centre is part of Crumlin hospital. It does not have its own governance or funding stream and therefore if there are cuts to the hospital there are cuts to the national centre. That is the reason it is in the crisis in which it finds itself.

To return to a point made by Senator Crown, we are not training clinical researchers. We have stated already that 80% of rare diseases are genetic in origin. It is suggested that because of our history as an island nation we have a higher percentage of genetic diseases yet we have no future plans for the development of genetics from the perspective of care. We talk a great deal about genetics in research, and if one reads about genetics in the media it is all about academic research. Genetics is an area that must be addressed. Ireland is way behind in that regard. Irish people who want to do further training in the area of genetics are travelling to the United Kingdom, and they will not return here. That is an urgent matter.

Chairman

On behalf of the committee I thank the delegation for attending and participating in what has been an educational and informative discussion. I hope this meeting is not just about raising awareness but about putting forward a strategy. Through their presentations the witnesses have left a potent impression on us and the legacy for this committee will be to ensure we have, with the Government's national task force, a strategy for the future. I thank the delegates for attending and sharing their experiences. I propose on behalf of the committee that we invite back the national steering group, perhaps later in the term if members are agreeable, to make a presentation to us so we can, as an independent branch of the Oireachtas, assist in the preparation and plotting of the strategy. I reassure the delegates that on Friday, as part of our committee's visit to the HSE's medical card facility in Finglas, we will raise the issue of medical cards with the officials there.

I remind members that members of the Northern Ireland Assembly's Committee for Health, Social Services and Public Safety will be present at 10.30 a.m. tomorrow. We are to meet in the reception area.

The joint committee adjourned at 3.35 p.m. until 11.30 a.m. on Thursday, 1 March 2012.