Rare Diseases: Motion

Wednesday, 7 March 2012

Seanad Éireann Debate
Vol. 214 No. 2

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Senator Colm Burke: Information on Colm Burke  Zoom on Colm Burke  I move:

I welcome the Minister, Deputy Reilly, to the House. I welcome the representatives from a number of voluntary organisations who are present and who have been involved with rare diseases. They gave a very comprehensive presentation at a meeting of the Joint Committee on Health and Children last Thursday. Having listened to it, I felt it was appropriate to have a debate in the Seanad on the subject. A number of organisations are involved in this area, including the Genetic and Rare Disorders Organisation, GRDO, which is the Irish national alliance for rare diseases; the Medical Research Charities Group, MRCG; and the Irish Platform for Patients Organisations, Science and Industry, IPPOS. There are representatives from these organisations present today.

The presentation made last Thursday highlighted the very many issues families must deal with when a family member is diagnosed with a rare disorder. The problem involves identifying the disorder. In many cases, the matter is quite complex and even trying to obtain a diagnosis can cause many difficulties. A rare disease is defined in the European Union as one that affects fewer than five out of 10,000 people. In Ireland, the number of people affected may be slightly higher, as with cystic fibrosis. This would still be considered a rare disease. Overall, a rare disease may affect as few as 0.05% of the population, but between 6% and 8% of the population may be affected by a rare disease during the course of their lives. The number can be quite large and it is, therefore, a matter of setting up structures to deal with this.

Figures in the public domain show that approximately 80% of rare diseases are genetic in origin. This is an estimate and it highlights the need for research. Some 50% to 75% of the diseases affect children, and around 30% of children with a rare disease are estimated to die before the age of five. It is extremely important, therefore, that we have proper structures to deal with this complex area and the impact on families. Where families know there is a problem with their child, it is a question of determining the problem and proceeding from there. If a [89]disease affects but two or three people on the entire island of Ireland, it is more difficult for families and the medical profession to deal with it.

Europe Rare Disease Day was on 29 February. It was organised to highlight a number of key areas, including access to correct diagnosis and the lack of information not only before diagnosis, but also after. The overall lack of scientific knowledge in certain areas and the social consequences on the identification of a disease must be considered. These issues were highlighted on 29 February. Also identified was the lack of appropriate quality health care after diagnosis. The high cost of drugs that may be required to provide treatment must be borne in mind. Another issue identified last week concerned inequality in the availability of treatment care, in addition to the issue of isolation. We must deal with these issues.

In April 2011, the Minister set up a national steering group to develop a policy framework on prevention, detection and treatment. The treatment of a person with a rare disease must be based on the principle of high quality care, equity and a patient centred approach. I know the Minister is considering a five year programme and the taskforce has been asked to consider the key areas. It has been asked to identify the centres of expertise. When I was a Member of the European Parliament, I was involved in dealing with the provision of health care and the need for more co-operation at European level. The population is under 4.5 million people and there are certain treatments that would not be viable for the numbers affected but it could be provided in co-operation with other jurisdictions and ensuring that Irish citizens have access to it. Once the rare disease has been identified, it is important that the person has access to the necessary medication and does not have to get it from abroad.

We also need to co-ordinate research on these diseases. The Minister has designated a person in his Department with overall responsibility for research but there is a need to co-ordinate research in the HSE also as I am not sure if somebody has been identified in the HSE to deal with it. That is very important from the point of view of dealing with issues like this.

The task force must ensure that we move forward and not leave the situation in abeyance. It is important that there is a clear timeframe to set up the structures to deal with the issue. I tabled a motion which states clearly what must be done. I called on the Minister to introduce a clinical care programme specifically for patients with rare diseases; to examine the development of suitable information systems including registries for rare diseases; to prioritise available funding to aid the work of the National Centre for Metabolic Disorders at Temple Street Hospital and the National Centre for Medical Genetics, NCMG, at Our Lady’s Children’s Hospital; and to examine the possibility of analysing genetic tests within Ireland with a view to saving money. I understand that many of the tests we conduct are going outside the country for analysis.

In November 2009, the Commission established a committee of experts to deal with rare diseases and to co-ordinate it at European level. This was to assist it in monitoring, evaluating and disseminating the results of measures taken at EU and national level in the field of rare diseases, and to contribute to the implementation of EU action in the field and in particular by analysing the results and suggesting improvements in the measures taken; to contribute to the preparation of Commission reports on the implementation of the Commission communication and the Council recommendations; to deliver on recommendations or submit reports to the Commission at the latter’s request or on its own initiative; and to assist in international co-operation on matters relating to rare diseases. It is important that we do not wait for the European Union to come up with solutions, we should look to give the lead in this area.

I thank the Minister for establishing the task force in April 2011. It is important to give the lead from the European point of view, in setting forward what we are doing in dealing with the issue and providing the support for families who must deal with these problems on a day-[90]to-day basis. We must ensure we have a structured system in place in the period of the five year programme. We must work at European level in progressing co-ordinated research in that area. I have seen recent figures of research and development in Europe which shows that 70% of all the people involved in research are going to the US rather than staying in Europe and we must consider how we can retain them rather than seeing them go to the US.

It is important that we move forward and set in place the structure to ensure we have a comprehensive way of dealing with these issues as they arise and that patients have the security of receiving high quality, patient focused care.

Senator Cáit Keane: Information on Cáit Keane  Zoom on Cáit Keane  I second the motion. On 29 February, Europe Rare Disease Day, I raised the issue of rare diseases on the Order of Business.

I welcome the representatives from all the organisations who are present. The Genetic and Rare Disorder Organisation, GRDO, has asked for clear defined health pathways for those affected by a rare disease. People with a rare disease are at a complete disadvantage to other patients in terms of being treated appropriately. GRDO has asked for the establishment of a rare disease national office. Will the Minister ask the task force to consider the feasibility of doing this? The buck stops here. I accept the Minister cannot watch everything every day but there should be an appropriate office that people could contact which would make their health care more efficient and would save money in the long run by reducing the time spent shuffling patients between doctors. The provision of high quality services to these patients in a cohesive way through a central office that can be cost effective will lead to better management of services and, more importantly, better outcomes for patients and their families.

The issue of rare diseases is not spoken about often enough because the small numbers affected mean they do not have a big voice and we, as politicians, must ensure that the small voices are heard as loudly and clearly as the voices of those with big numbers. Being diagnosed with a disease can be distressing. When diagnosed with a rare disease one faces greater difficulties, ranging from lack of specialists able to treat the condition to lack of patient support.

While a delayed or incorrect diagnosis is always a possibility with a rare disease — I have read of patients waiting some time to have their condition diagnosed — we in Ireland are good at diagnosis, but I see somebody in the Visitors Gallery shaking their finger. When I read up on this topic before Europe Rare Disease Day, I noted that a child had to wait between seven and ten years for a diagnosis. That is a long time in a child’s life.

There are difficulties, as there is no concentration of expertise, for example up to a few years ago, cystic fibrosis was treated all over the country but now treatment is more specialised and is delivered in certain hospitals. I welcome the development of the inpatient and day care cystic fibrosis unit. We are all familiar with cystic fibrosis which is not an uncommon disease but is classified as a rare disease. I welcome the new cystic fibrosis centre in St. Vincent’s Hospital.

The treatment of a rare disease poses a particular problem because of the size of the country. With rare diseases it is a matter of chance if one can find a doctor with the expertise in that area. Even if a doctor has the expertise he or she may not have the ability to continue to specialise in it because of the small numbers. For that reason we have to fall back on services in other countries, such as our nearest neighbour in the UK, for back-up. There is no harm in that but we should move away from this reliance on our nearest neighbour and seek to have some specialty even in one hospital in the country for each disease. That the disease is considered rare means that in the past many pharmaceutical companies did not invest in developing drugs and treatments for these conditions. The drugs used to treat rare diseases are known as orphan drugs. According to Professor Buckley, the term often reflects the fact that these drugs have been neglected.

[91]However, in 2000 the EU orphan drug regulation was adopted, the main aim of which was to encourage the pharmaceutical industry to become more involved in developing drugs for rare diseases. It is hoped to achieve this by providing a number of incentives, including ten-year marketing exclusively on any product. We know when the patents are lifted on drugs. Perhaps the Minister would examine the drugs for rare diseases and advise that the patents continue. I do not know if that is advisable but a task force could be asked to examine the issue because it would be an incentive for the drugs company to ensure that the most up-to-date drugs were available and kept on the market. I would argue the exact opposite for taking the patent off of the drugs in normal circumstances but this is a special circumstance.

This regulation has arguably led to some success in this field in both small or bio-technology companies and larger pharmaceutical companies. The large pharmaceutical company, Pfizer, created an orphan drug research division this year and should be complimented for doing so. However, as with everything, the development of the orphan drug and the treatment of people with rare diseases are being affected by worldwide recession and this can be seen clearly.

There are geographical inequalities. It is clear that a person with cystic fibrosis living beside St. Vincent’s Hospital is at a much better advantage than a person who lives far away. It is the same for others diseases. A national rare disease office should come into play to co-ordinate the care for patients who suffer from this rare disease. Given that almost 250,000 people are affected, I support the call to prioritise available funding to aid the work of the National Centre for Metabolic Disorders at Temple Street Hospital and the National Centre for Medical Genetics at Our Lady’s Children’s Hospital.

Since coming to office, the Minister has been proactive on this issue. As he has set up the task force I await its report. When does the Minister expect the report to be available?

An Cathaoirleach: Information on Paddy Burke  Zoom on Paddy Burke  Before I call Senator Byrne, I welcome the bishop of the diocese of Cashel, Ossory and Waterford, the Right Reverend Michael Burrows, who is in the Visitors Gallery.

Senator Thomas Byrne: Information on Thomas Byrne  Zoom on Thomas Byrne  Seasaim ar son pháirtí Fhianna Fáil anseo chun lán-tacaíocht a thabhairt don rún seo. Táimid i bhfabhar an rúin agus measaim go mbeidh gach duine eile ó gach páirtí i bhfabhar an rúin. Ní leor sin, áfach, mar fiú má tá gach páirtí ag tacú leis an rún, caithfidh gníomhaíocht leanúint ón rún agus caithfidh an tAire a lán rudaí a dhéanamh. Tá Fine Gael ag tabhairt molta don Aire as an obair atáá déanamh aige ach tá tuilleadh oibre le déanamh toisc go bhfuil an rún seo ar an gclár inniu.

  4 o’clock

Tá na galair neamhchoitianta ina bhfadhb mhór. Tá a lán daoine ar a bhfuil na galair seo agus is dócha gur páistí a lán acu, páistí nach maireann go minic níos sine ná a cúig bliana d’aois. Fadhb bhrónach atá ann agus is féidir leis an Aire agus leis an Rialtas tuilleadh a dhéanamh. Luaitear an task force agus tá directive ón Eoraip agus an aidhm a bhaineann leis sin ná cabhair a thabhairt do na tíortha go léir oibriú le chéile ar an ábhar seo. Tá súil agam go bhfuil an tAire ag úsáid na huirlisí atá aige ón Eoraip agus ón saineolas atá againn sa tír seo chun obair a dhéanamh ar an fhadhb seo mar níl aon dabht nach mbeidh réiteach uirthi choíche ach is dócha gur féidir an fhadhb a fheabhsú.

Tá mé ar son an rúin agus ag tacú leis an 157,000 duine sa tír seo ar a bhfuil galar neamhchoitianta. I support the motion. It is important that it gets cross-party support and that action follows. It is an opportune moment for those involved in various organisations and those families who have a member, particularly young children, who may be facing terminal conditions, to have the Minister’s ear to put significant pressure on him. I acknowledged work has taken place but more needs to be done. The issues are diagnosis in terms of bringing together the expertise here and throughout the EU. The directive I mentioned is important to ensure [92]co-operation in bringing that expertise together and making it available to improve lives. By its nature, this is a problem that will never be fully solved but we can improve and save lives if further work is done.

We are grateful the Minister is present for the debate. It serves to emphasise to him the need to apply the pressure on behalf of all the families and we do that on a cross-party basis in a positive way, without unnecessary criticism.

It is heartbreaking for families when a loved one, especially a child, is diagnosed with a rare disease and that child’s life expectancy is reduced significantly. Many children with rare diseases do not survive beyond the age of five years. The issues are treatment, diagnosis, the availability of drugs — some of which are experimental — pharmaceutical companies investing in the research necessary to produce these drugs to the market and the problems that arise for those companies because they are not prepared to put in the necessary funds. Orphan drugs for orphan diseases have been neglected.

An EU regulation in 2000 had some success. The pharmaceutical company, Pfizer, was mentioned for the work it has done. However, further governmental pressure can be applied not only in Ireland but across the EU. We should use the EU because we have no option as there are so few people here affected by some of the various diseases. I will be critical if the debate is not followed up by action from the Minister. We want to understand the many thousands of diseases we are dealing with as the scale of the problem is enormous. I realise it is a question of resources and priorities but it must be done for the sake of the people.

Senator Marie Moloney: Information on Marie Moloney  Zoom on Marie Moloney  I welcome the Minister to the House. Given that he has a busy schedule I thank him for taking the time to attend to debate the motion.

I commend the Fine Gael Senators who have highlighted the issue and tabled the motion. Each year brings with it a new and rare disease and, unfortunately, it is impossible to have the expertise at hand to deal with each disease. While doctors specialise in a specific area of medicine it would be impossible to have a consultant for each disease. This is why it is important to have a clinical care programme specifically for patients with rare diseases. This programme could guide and assist patients to accessing the right course of treatment and ensure a specialist is found to deal with the disease as quickly as possible, be it inside or outside the country.

A very close family member was diagnosed with the rare blood disease, amyloidosis, just before Christmas 2010. There are only two places where this disease can be dealt with — the Royal Free Hampstead in London and the Mayo Clinic in the US. Until such time as an appointment could be made for him, he was advised to spend Christmas with his family and prepare them for the worst as it would be his last Christmas. He had been given six months to live. At the very first consultation in London, however, my relative was informed by the specialist that he could cure him and cure him he did. Can one imagine the agony that young man, his wife and his three schoolgoing children went through until he saw the specialist? Had a clinical care programme been in place and the right information provided, the young man could have been spared all this agony.

Amyloidosis is a western disease with 500 cases a year diagnosed. Not everyone with the disease can be cured but there is help. Some diseases, although not really rare, often go undetected such as Lyme disease. It is prevalent in the Killarney area because of the high deer population there. Although beautiful to look at it and a great attraction to scenic routes in Kerry, deer may also pose a serious threat to human health. It is a little known fact that one can contract Lyme disease from deer populations that harbour ticks which carry the disease. One can come into contact with ticks just about anywhere but one’s chances are greater in wooded areas or places with high grass and weeds. Ticks need large mammals for hosts as they [93]feed off their blood. Deer are one such host. Some ticks carry Lyme disease and because they have an anaesthetic property in their jaw, one might not even know one has been bitten. The symptoms of Lyme disease can be very similar to multiple sclerosis, MS, lupus or fibromyalgia. If the disease is caught at an early stage, it can be treated effectively with antibiotics. However, if not, recovery, if it happens at all, can take years.

In the UK last year, there were 2,000 cases of Lyme disease. It is likely there is a large number here too. However, we are not sure because it is not a notifiable disease. Some patient advocacy groups suspect the Killarney area is particularly infected. We should be highlighting awareness, encourage quick diagnosis and treatment of this debilitating disease. Occasionally, a patient may carry Lyme disease but have no outwardly obvious symptoms. Ill health may crop up years later following an illness or period of stress. This leads to decimated or late Lyme disease where symptoms are similar to MS, chronic fatigue syndrome and Parkinson’s disease.

I am delighted the Department of Health is reviewing the existing strategy of addressing patients with rare diseases and, I hope, a new strategy will emerge. Will the Minister advise the House as to how this review is progressing? When a patient is diagnosed with a rare disease, they can be off work for some time. My family relative was off work for six months but when he tried to explain his illness to his employer and work mates, they did not know anything about it. The motion calls for a suitable information system which could assist employers and employees in knowing how rare disease patients are affected.

I recommend the motion to the House and hope it will be supported by all parties.

Senator Jillian van Turnhout: Information on Jillian van Turnhout  Zoom on Jillian van Turnhout  I thank the Minister for attending the House for the debate on this Private Members’ motion. I thank my colleagues in Fine Gael, particularly Senators Burke and Keane, for bringing forward this motion. As I was not very informed on the subject of rare disease care, I welcome the fact that I had to immerse myself in the subject and learn more. It astounded me the number of rare disease patients EU-wide is the equivalent of the combined populations of the Netherlands, Belgium and Luxemburg, which highlights the need to do more in this area.

I would have preferred if the motion had recognised that rare illnesses affect children far more than any other group. Up to 75% of rare diseases affect children. In the United States, 50% of recognised patients are children. Tragically, 30% of all patients die before they reach five years of age. Faced with such figures, it is clear that making access to a proper diagnosis and appropriate treatment is a clear public health priority. Given the numbers of children who die before the age of five, it shows the importance of timeliness in ensuring proper diagnosis.

Up to 41% of respondents to a genetic and rare disorders organisation’s patient experience survey felt they did not have access to the best medical care for their condition. Without a diagnostic system in place, the State leaves rare disease sufferers facing long delays in diagnosis and even misdiagnosis before their conditions can be addressed. The consequences of such delays can be quite dramatic ranging from loss of confidence in the health care system, the decline of the physical, mental and emotional well-being of a sufferer and even leading to the premature death of a patient. I was stunned to find a survey by EURORDIS, the European Rare Diseases Organisation, on diagnostic delays revealed that one out of six sufferers in Europe underwent surgical treatment based on a false diagnosis. Many rare disease patients also suffer profound and multiple disabilities.

While the motion does not address the wider issues faced by such patients such as access to basic facilities, carers and respite services and the geographical differences in the standard of care that can be expected, I fully support it. It is a step in the right direction. Now that I am more knowledgeable of the subject, I will endeavour to follow it more closely.

[94]Minister for Health (Deputy James Reilly): Information on Dr James Reilly  Zoom on Dr James Reilly  Ba mhaith liom buíochas a ghabháil leis na Seanadóirí as seans a thabhairt dom labhairt ar an ábhar tábhachtach seo.

At the very centre of this issue are both adults and children who suffer from rare diseases in Ireland. The patient must be central to everything we do in health care. No matter how clever or elegant a policy or a strategy is, if it does not improve patient care or experience, it is worth nothing. Rare diseases are life threatening or chronic debilitating conditions affecting no more than five in 10,000 people. Between 5,000 and 8,000 rare diseases have been described, affecting about 6% to 8% of the population in the course of their lives. Approximately 80% of rare diseases have a genetic origin and the life expectancy of patients with rare diseases is significantly reduced. Many of these conditions are complex, severe and debilitating.

In recent years a considerable amount of work has been done in Ireland, as well as at European level, in the area of rare diseases. The twin approach of developing a specific national plan, together with European collaboration, is the key element to improve health and social care for people with rare diseases. Ireland has been supportive of the EU proposals on rare disease which concluded with a Council recommendation on rare diseases in June 2009. This requires that member states develop a rare disease policy by 2013.

Ireland also participates in a number of European Commission committees that support work on rare diseases at EU level. For example, EUROPLAN, the European Project for Rare Disease National Plans Development, is a three-year project involving all member states that is aimed at supporting countries in the development of their national plans and strategies. The Commission standing committee on rare diseases, EUCERD, was established to progress the Council recommendations on rare diseases and to support the relevant work. In January 2011, a national conference was held in Farmleigh with the support of EUROPLAN and brought together patients, patient organisations and health care professionals to discuss what might feed into the development of a national strategy for rare diseases. I welcome to the Visitors Gallery some of those who attended the conference, including Ms Avril Daly, Mr. Tony Heffernan, Ms Margaret Webb, Dr. Avril Kennan, Ms Patricia Towey, Ms Judy Windle, Professor Eileen Treacy, Ms Anne Lawlor and Ms Karen Pickering. As they will see from the course of my contribution, the Government is intent on pursuing the objective of placing greater emphasis on rare diseases and clear pathways of treatment within the HSE and the Department.

The organisation of the conference enabled patient, scientific, medical and industry representatives who have been working closely on the rare disease agenda for more than a decade to engage with relevant State agencies in a co-ordinated and productive way. The EUROPLAN conference played a significant role in the progression of the national plan for rare diseases. I have made a commitment to progressing this agenda. In April 2011, I established a national steering group to develop a policy framework for the prevention, detection and treatment of rare diseases based on the principles of high-quality care, equity and patient centricity. It is to review existing provisions and identify priority actions subject to resource availability. The policy will operate for a five-year period, take account of the 2009 Council recommendation on rare diseases and define priority actions subject to resource availability.

The membership of the group, which is chaired by my Department, includes those organisations with a remit or a special interest in rare diseases. The broad-based membership ranges from the HSE, HIQA, the Health Research Board, the Irish Medicines Board and the Institute of Public Health in Ireland to the Irish Platform for Patients Organisations, Science and Industry, the Genetic and Rare Disorders Organisation, GRDO, Fighting Blindness, the Medical Research Charities Group, MRCG, and Bee for Battens. It is important to note that there is a [95]strong commitment from every stakeholder, which is key in the ongoing development of the national plan for rare diseases.

The national steering group identified a number of issues relating to rare diseases for consideration, including centres of expertise, access, medication and technology, research and information and patient empowerment and support. It is continuing with this work and a range of issues within these areas are under consideration.

The development of networks for the provision of equity and safe care for all patients with rare diseases, whether provided from a recognised national centre of expertise or by linkage through the patients’ health care providers to recognised European reference networks, ERNs, is a key priority. Centres of expertise are multidisciplinary care centres providing high quality medical treatment, genetic testing and counselling and social services. The EUROPLAN report, which examined services across Europe, commented that, in most countries, there were no designated centres of expertise. Even where they are available, there is significant variation in their organisation and how they operate.

The rationale for developing centres of expertise is well established. Rare disorders require highly specialised multidisciplinary medical teams and social service providers. Concentration of expertise in a physical or virtual structure brings together competencies and reduces health care costs by contributing to shorter delays in diagnosis, less adverse consequences and a reduction in misdiagnoses and unnecessary treatments. In addition, the designation mechanism for centres of expertise, the definition of health care pathways, the promotion of cross-Border health care, accessibility to genetic counselling and the quality assurance of genetic testing are being considered in this context. I am happy to report that I have had many good meetings with the North’s Minister of Health, Social Services and Public Safety, Mr. Edwin Poots, MLA. This will be another subject matter that we will be considering.

An integral and essential part of an effective policy framework will be the development of a dedicated HSE clinical programme. I understand that a proposal has been submitted to the HSE’s national director of clinical strategy and programmes to establish a national clinical programme for rare diseases. The proposal encompasses the development of a programme to facilitate timely access to centres of expertise nationally and internationally and to provide up-to-date information on new treatments and management options and on ongoing clinical trials for all patients affected with rare diseases in this country. It also aims to develop a model of care designed to improve the patient experience, provide safe quality care, improve communication, education and interfaces with community partners and be cost efficient. The proposal suggests that a national rare diseases programme would collate and assist with developing national treatment guidelines, standard operating procedures and care pathways for many rare disorders in collaboration with the designated reference centres. It would also develop care pathways with European reference centres for those "ultra rare disorders" in respect of which there may not be sufficient expertise in Ireland. The HSE has agreed to establish a programme. However, the details remain to be worked through.

The National Centre for Medical Genetics, NCMG, was established in late 1994 at Our Lady’s Children’s Hospital, Crumlin with the objective of providing a clinical and laboratory genetic service for those affected by or at risk of a genetic disorder and is the only centre in Ireland providing such a service. Staffing numbers have increased at the centre since its establishment and an extension to the centre was opened in 2010. The NCMG has always aimed to provide an equitable clinical service nationwide and runs outreach genetic clinics in Cork, Galway and Limerick and, less frequently, in Castlebar, Sligo, and Letterkenny. It interacts with a wide range of existing service programmes, including in the areas of cancer, intellectual disability, paediatrics, metabolic diseases and cystic fibrosis.

[96]The National Centre for Inherited Metabolic Disorders, NCIMD, is a tertiary referral service linked to the national newborn screening programme, which follows more than 1,800 patients, both children and adults, nationwide. These patients have a wide variety of inherited metabolic disorders that are all rare disorders, with more than 400 new referrals per year. The centre is unique in its position as the only tertiary care referral centre for the investigation and treatment of metabolic genetic diseases, a major subset of more than 200 rare disorders in Ireland. The national centre plays a major public health role in preventing and treating disability for the population. Following more than 40 years of screening, more than 40% of the cohort of patients followed by the NCIMD are over 16 years of age. This number is likely to increase over time.

I understand that funding for medications and the development of the adult service at the Mater Hospital are also under discussion with the HSE. I cannot overemphasise the need for parents to seek diagnoses. In that way, they can at least know what they are dealing with and start on the difficult road towards addressing diseases as best they can. Without a diagnosis, dealing with a disease is difficult.

Access to appropriate medication and technology in the context of transparent processes to ensure equitable access to orphan drugs as well as the issue of orphan drug development is being examined. Defining where there are gaps in the system for patients in the context of access to treatment and recommending a pathway for those orphan drugs that might fall outside the current systems for pricing and reimbursement are priorities. The aims of the pathway would be to improve overall health and well-being, improve operational efficiency and efficiency of decision making processes and align investment to national policy. Also seen as important is the ready availability of national figures on the usage of orphan medicines and reimbursement data to support research initiatives.

It is acknowledged that research is an integral part of the overall care for rare diseases, including access to clinical trials, where appropriate. In this context, the proposals for how best to develop a research infrastructure are being examined, particularly in an international context where there is obvious added value in working with European partners on programmes for rare disease research. It is important that people be willing to become involved in clinical trials. Not only does their participation afford them the opportunity to avail of cutting edge medicines that are unavailable elsewhere but the level of supervision during such trials is far superior to what would normally be available during a course of treatment, given the constraints around trials. While in the past there may have been some reluctance to become involved in such trials, we should be more willing to consider them. As the parent of a child with a serious disability, thankfully much better now than in his younger years, I know that my wife and I would have tried anything to secure a better future. I hope that parents and sufferers themselves, following proper consultation with their carers and medical professionals, will not be afraid to avail of the newer treatments that come on stream.

One of the big issues for us is defining where there are gaps in the system for patients in the context of access to treatment and recommending a pathway for those orphan drugs. We will need to ensure we find a clear way to make these available to as many of those who wish to avail of them as possible. Research is a key part of what the Government is doing. This morning, I launched a conference on medical device research and on Monday opened a new centre in Cork for the health research bureau at the Mercy Hospital with a commitment of €5.9 million for further research into different diseases. We will continue to support research as it is the area that offers the most hope for people who suffer from rare diseases and also opens up societal opportunities at a greater level in terms of jobs.

[97]In tandem with the research agenda, the group is also considering the information systems that are required and the most appropriate registries and databases which can be used to plan and manage services in Ireland. The challenge is that there are a number of individual registries, specific rare diseases registries, and registries with a wider remit which also record cases of rare diseases rather than a dedicated national rare disease registry. However, this can be overcome more quickly than people imagine if we can design a portal into which all these different registers can feed. Then we will have the national register with the national information we need. Ultimately, it is about information and a proper and well organised service that can sometimes yield much greater results than were possible hitherto. I have often quoted Dr. Susan O’Reilly on the cancer care programme. She showed that a 10% improvement in organisation and management has yielded a 10% improvement in outcomes for people with cancer — nothing to do with the medication at all.

It is acknowledged that patient empowerment and support is integral to national rare disease planning and the steering group is working on what can be done to empower patients and their families in a meaningful way. In addition, the national steering group is planning to consult patients and key stakeholders in early summer on the broad proposals and recommendations that will emerge. What is required when it comes to any disease, particularly rare diseases, is involving those who suffer and the families who care for them, as well as those who deliver the care. That is where we get the best dividend and find out far more quickly how to get the best result.

It is important that the group complete its work. I would expect that a robust, achievable plan can be agreed that will lead to providing better information for patients; designating appropriate centres to provide high-quality treatment; setting out a fair and transparent means to allow access to orphan drugs; and promoting research for the benefit of patients with rare diseases. I understand that the timeframe for submitting a report to me is during the latter half of this year. As we work towards a national plan for rare diseases it is important that the evident commitment shown among all organisations and groups involved in the development of how the issues and challenges connected with rare diseases are managed is continued. Our aim is to continue to work at developing practical plans to impact positively on the health, well-being and daily lives of those patients affected by a rare disease and their families. I hope we will have that for our Presidency of the European Union in 2013.

Senator Brian Ó Domhnaill: Information on Brian Ó Domhnaill  Zoom on Brian Ó Domhnaill  Cuirim fáilte roimh an Aire go dtí an Teach chun éisteacht leis an díospóireacht tábhachtach seo agus chun na focail adúirt sé a chur i láthair an Tí. Curim fáilte roimh an méid atá ráite ag an Aire ar an ábhar fíor-thábhachtach seo ar ghalair nach bhfuil comh coitianta agus a bheadh galair eile, cé go gcuireann siad isteach ar chuid mhór daoine. I welcome what the Minister has just said and we will be supporting tonight’s Private Members’ motion. I welcome that the national clinical programme for rare diseases which the Minister said will be put in train. It is something that needs to be implemented given the figures the Minister and other Members have outlined. At least 160,000 Irish people have what is categorised as a rare disease. According to evidence, one third of these, approximately 50,000 patients, will die before they reach the age of five, which is an alarming figure.

Conditions classified as rare diseases include well known conditions such as cystic fibrosis and muscular dystrophy. However, there are other conditions such as lupus which are classified as rare diseases. Those conditions affect many young people in particular and we need a national clinical plan incorporating a joined-up approach from the Department of Health and the HSE with each of the respective charitable organisations representing people with those illnesses, including the Irish Lupus Support Group, Spina Bifida Hydrocephalus Ireland and others.

[98]In Ireland, we are pretty good at diagnosing illnesses, but the challenge begins after the diagnosis and some people have serious difficulties when it comes to the treatment of a rare disease. There is often no concentration of expertise, as the Minister has outlined. For example, until a few years ago, cystic fibrosis was treated in various locations throughout the country but now the treatment tends to be more specialised and centralised, which is to the benefit of patients. Ireland has the highest rate of cystic fibrosis in the world and we do not have a very good track record with the disease. For example, despite being the national referral centre for people with cystic fibrosis, St. Vincent’s University Hospital in Dublin, still has no specialist CF unit. However, the contracts for that building have been signed and I understand it is due to be completed by April this year. I ask the Minister to clarify that point in his remarks.

Some young people in the prime of their lives who are affected by rare diseases — neurological or other diseases — are finding it extremely difficult to continue in employment. However, the disease from which they suffer is not recognised as one that qualifies under the long-term illness scheme. The Minister knows this needs to be addressed because in July 2010 he raised the issue on the floor of Dáil Éireann and called for the then Government to ensure that diseases such as muscular dystrophy, Parkinson’s disease, acute leukaemia, certain forms of cancer, asthma, congestive cardiac failure, Crohn’s disease, lupus and Huntington’s disease should all be recognised — some are but others are not. There are other diseases — I have only selected a few.

Let us consider an individual who is working and who is then diagnosed with a rare illness and who is then unable to get additional benefits. The cost of obtaining care may mean the person must leave employment. That person may be unable to fulfil their life to the greatest extent possible. The long-term illness scheme should be radically overhauled immediately. I call on the Minister to fulfil the claims he made when he was in opposition. Often, but not exclusively, young people are not entitled to access the long-term illness scheme. I have met people from the Irish Lupus Support Group and spina bifida organisations. Earlier this week I opened the regional office for MS Ireland in Donegal. I met patients there and the uniform word from them is to the effect that they need recognition at that level. The major plans on the major issues must be addressed and the Minister is working towards this. However, at a lower level these people are finding it difficult to cope financially. These illnesses should be recognised for the purposes of the scheme. I recognise that the Minister agrees with me and call on him to try to ensure something is done about it in Cabinet.

Senator Martin Conway: Information on Martin Conway  Zoom on Martin Conway  I welcome the Minister to the House. I have taken great comfort in the plan which he has in place for dealing with this serious issue of rare diseases. Everyone who has been struck by a disease deserves equality. That is a simple premise, irrespective of whether a given disease is prevalent or unique. If we begin with this premise, it is then easy to decide on our policy.

It is a great shame that there was no plan in place to deal with this during the great days of the Celtic tiger. I am familiarising myself with the details because it is a new and technical area. However, it is an is important area and we all have a responsibility to brief ourselves on it. Within one month of taking office, the Minister put in place a competent and capable steering group made up of people from within the various areas of the HSE and HIQA who are aware of best practice in this area. The Minister has advised us that they are putting a plan in place. I look forward to the next step, that is, the publication of a plan. I have no problem with this group in consultation with the Minister spending the necessary time to ensure that the plan is proper and that it will be achieved. We are informed that during Ireland’s Presidency of the European Union in 2013 we will be in a position to publish a plan. I trust we will see the [99]implementation of the plan and that this will engage all the stakeholders and hold them to account with effective and proper deadlines. This will mean that if someone is diagnosed with a rare disease in the country, they will know exactly what they are entitled to, that is, what everyone else is entitled to.

I am pleased the steering group is in place and I am confident we will have a plan. We have been given a timeline for the publication of the plan and I hope it will be implemented. Every plan is great and plans on paper are wonderful, but we must see the effects in practice and real benefits for those people, especially young people, who find themselves with a rare disease. Resources must be made available for the implementation of the plan. I sincerely hope there will be no budgetary constraints in this regard because we are coming from behind in this area.

I am heartened at the fact that a good deal is taking place internationally. A good deal appears to be under way in Europe in particular or, at least, this is what we have been told and I trust it is the case. I am pleased that the Minister has recognised the need to take full advantage of the various information technology options available to integrate databases and to use best practice in terms of information technology to ensure as far as possible that there is steady and ready access to as much information as possible and to as many diseases as possible. The Minister spoke about the integration of these systems. I imagine it is not rocket science but, unfortunately, these things tend to be complicated and difficult. Humans tend to make things difficult as well. I hope these elements of the plan will be carried out.

This is a small country of 4 million people and as a result we must examine international best practice and to take advantage of it. We must utilise and take advantage of whatever expertise is available abroad. I had not heard the term “orphan drugs” before but it is an interesting description. Many people take the view that the cost of drugs and medication for commonplace diseases in this country is far too high compared to our European counterparts. I imagine this problem is exacerbated when one is dealing with orphan drugs provided one can get them and they are available. I imagine it is a desperate thing to be unable to source these drugs not to mention the cost issues. This issues of availability and cost are critical and must be dealt with.

I sincerely hope this plan will be published along the timelines the Minister has outlined and that during the lifetime of the Government, which has been in office for one year, we will see the plan not only published, but implemented. That is the most important point. The Minister has given a commitment which I believe to be genuine, as is that of the Minister of State. I have no doubt about his sincerity but I am keen to see the commitment delivered.

Senator Paschal Mooney: Information on Paschal Canice Mooney  Zoom on Paschal Canice Mooney  Cuirim fáilte roimh an Aire. Bhí mé ag caint ar maidin ar Riar na hOibre ach níor labhair mé i nGaeilge, cé gur seo seachtain na Gaeilge. Gabh mo leithscéal mar gheall ar sin. Like many of my colleagues, I have only school Irish however Seachtain na Gaeilge is important and something I fully support.

I wish to focus on one issue in this debate but first I wish to declare an interest, something I have in common with my colleague on the other side of the House, Senator Mary Moran, with whom I have had many discussions on the matter. She will welcome any revelation of our respective experiences. Both of us are parents of Prader Willi syndrome children. This is a rare disorder, genetic in origin. It is primarily an eating disorder, although not exclusively so. One of the great difficulties is early diagnosis. We were fortunate in that our daughter, Siobhán, who is now 22 years of age, was born in the National Maternity Hospital, Holles Street. It became obvious immediately that she had what was termed “floppy baby syndrome”. Tests were carried out by the staff and within three weeks we got the result of a genetic test which, at the time, had to be sent to London. I understand these tests can be carried out in Ireland [100]now. They were able to establish and identify what was a completely alien term to us and to some of the doctors in Holles Street on account of its rarity.

Prader Willi syndrome is named after two professors from Switzerland, Professors Prader and Willi, who, in the late 1950s, identified a deletion of chromosome 15 which leads to a mild 5% reduction in physical and mental capacity. Those affected have special and particular needs. We are fortunate in that the main problem of our daughter, Siobhán, is an overeating problem. I will put it at its starkest, something to which Senator Moran can testify — I understand her boy is 14 years of age. Left unattended, our daughter would effectively eat herself to death. Those affected do not have the capacity to know when they are full. They are, to use an American parlance, permanently hungry. Since it is a rare disease it is not in the mainstream of research in the same way as what might be termed more “sexy” or “popular” rare diseases. I am grateful to Senator van Turnhout’s group who have afforded me an opportunity to raise this.

Acting Chairman (Senator Jillian van Turnhout): Information on Jillian van Turnhout  Zoom on Jillian van Turnhout  It is Senator Colm Burke’s motion. To be absolutely clear, it is a Fine Gael motion.

Senator Paschal Mooney: Information on Paschal Canice Mooney  Zoom on Paschal Canice Mooney  I am sorry. Please forgive my ignorance.

Acting Chairman (Senator Jillian van Turnhout): Information on Jillian van Turnhout  Zoom on Jillian van Turnhout  No, I just wanted to clarify the matter.

Senator Paschal Mooney: Information on Paschal Canice Mooney  Zoom on Paschal Canice Mooney  I am glad you clarified it. My compliments to Senator Colm Burke and Fine Gael on putting this motion before the House. Senator van Turnhout’s reputation precedes her.

As the Minister of State, Deputy Shortall, is very much on top of her brief, I assume that she may be aware of this, but I will highlight it anyway. As a result of my networking with the Prader Willi Association, particularly in the UK since our child Siobháin was born, it is a great font of knowledge in terms of updating on developments. There is a PW association here in Ireland, mainly based around Dublin, which has received funding from the Department for a permanent respite care centre for adult PW victims. I hope the Department will continue to fund that because it is vitally important.

The Government is represented on the committee for orphan medical products. I am grateful to the representative of the Irish Medicines Board but I will not mention her by name as she is a civil servant, although it is in the public domain. I am grateful to her for the information she provided for me. The lady in question has been a member of the committee for orphan medical products since September 2011. Each EU member state, along with Norway and Iceland, has a representative on the committee. These representatives are appointed by the Minister for Health in each country. In addition, there are three patient organisation representatives, as well as a small number of members of the European Medicines Agency’s committee on human medical products, and representatives of the European Commission. The committee meets in London every month for two days and at each meeting it considers applications for designation as orphan products. In general, designation happens at a fairly early stage of the development of a product. The condition must have a prevalence of fewer than five in 10,000 and must be life-threatening or debilitating. In addition, there should be medical plausibility - that is, there is some evidence that the product might work on a given condition. If there are already products available to treat the condition, the applicant must be able to demonstrate that their product will provide significant benefit over and above the currently used product.

Getting an orphan designation brings a lot of benefit to companies, such as not having to pay certain application fees and getting free scientific advice regarding the trials they need to do to prove the benefit or efficacy of their product. It also means that they get ten years market [101]exclusivity for their product. Not all products that receive an orphan designation go on to get a marketing authorisation, often because they fail to show that they are of any benefit. The lrish representative is not sure of what the proportion is.

The Prader Willi Association is lobbying within Europe for the granting of an orphan designation to a trial product called Carbetocin. Carbetocin is currently in its experimental stage. One or two companies are trying to come up with a product that would lessen the impact of Prader Willi syndrome. This condition is incurable. It is genetic in origin and whatever drugs are eventually developed and trialled will be of benefit in certain aspects because it is such a multilayered condition. It affects a variety of parts of the body. As I said, in our case, thank God, it is primarily an eating disorder. There are also issues concerning behaviour, bone structure and diabetes.

I am asking the Minister of State to ensure that the designation, if given, will incentivise pharma companies to carry out clinical trials on medicines that may help to alleviate the condition. I ask the Minister of State to ask her officials if they would contact the Irish representative concerned with this matter. She is very much aware of this issue and I have been in correspondence with her. All of this information has come directly from her. This might be another area where, in the context of this wider debate on addressing rare diseases, full support would be given to the particular drug that is currently being put before the committee for orphan medical products. No decision has yet been taken on it, but I would be grateful if Ireland would support it.

Senator John Gilroy: Information on John Gilroy  Zoom on John Gilroy  I welcome the Minister of State to the Chamber. I am glad that we can discuss this topic today. By its very definition it is a topic that does not often get a public airing. Those who do talk about it are the victims of rare diseases, as well as their families and support groups. It must be frustrating to find oneself with a serious condition and be isolated as well. It is important to discuss this issue and I commend Senator Colm Burke and the Fine Gael group for bringing it to our attention. The Seanad is a good venue to debate such a topic. I cannot think of any other public forum where such an issue could be discussed.

It is problematical to discuss rare conditions as a homogenous group. The motion refers to 7,000 individual conditions which are classified under this heading. With such a diverse number it is difficult to know where to start discussing them. Even the way we count them — from 5,000 to 7,000 — could mean that there are 1,500 more conditions, or fewer, than we recognise under this heading. That is certainly problematic.

The conditions vary from contractible and acquired to genetic, and leave little ground to find commonality, especially for a lay person like myself. I am, however, not entirely a lay person in this regard having spent 30 years working as a psychiatric nurse. I worked in St. Pancras Hospital in north London near King’s Cross, which is the national hospital for tropical diseases. There were two psychiatric wards where I worked. From time to time because of the nature of some of the tropical diseases that were presenting to the hospital, there was a requirement for some mental health nurses to work on these wards. The extraordinary variety of conditions under that heading alone that presented to the hospital almost overwhelmed the system. On one occasion I came across a young man who suffered from a condition which I will not name because it is such a rare disease. When he was diagnosed with it he was allocated a number for tracking through the system. His number was 23, meaning there were only 22 other such cases in the whole world, which was remarkable.

In order to develop and maintain an expertise in medical specialties there is a requirement that a certain number of cases will be seen at any centre. It is accepted medical practice to ensure that such expertise is maintained. It is difficult to know how this can be achieved in this [102]area, but we can certainly ensure an adequate flow of information between hospitals, countries and continents. Co-operation across Europe and further afield is vital in this regard.

I acknowledge the wonderful work that has been done by support groups as well as by the families of sufferers. They are often the silent heroes in this area. Perhaps the Government will be able to do a little bit more to support such groups. The steering group established by the Minister for Health, Deputy James Reilly, is a welcome development which points to the vital necessity of sharing information.

This debate is most welcome and I again commend Senator Colm Burke and the Fine Gael group for initiating it. The Minister, Deputy Reilly, and the Minister of State, Deputy Shortall, are also to be commended for their proactive stance on this matter. I wish to re-emphasise the importance of sharing information to ensure that the best clinical outcomes are achieved for sufferers of all rare diseases.

Senator David Cullinane: Information on David Cullinane  Zoom on David Cullinane  Cuirim fáilte roimh an Aire Stáit go dtí an Teach. I also welcome the guests in the Visitors Gallery and thank the Fine Gael Party for tabling this motion. Members may be aware that the international day for rare diseases occurred last week. A number of very good presentations were made to the Joint Committee on Health and Children.

I was struck by a number of the comments and the number of presentations. Avril Daly was in the Visitors Gallery and she represents the national task force on rare diseases, Towards 2013. She said that a person diagnosed is often regarded as the fortunate one because of the diagnostic journey which many people find themselves involved in with problems of misdiagnosis. This is very telling. When a person is diagnosed with a rare condition, the impact on the entire family is enormous. It is important when considering putting in place a national centre for rare diseases, with access to information and looking at pathways to health care and access to services, that the patient is put at the centre of the process. We also need to be cognisant of the needs of the family and the supports they will need and the issues that will arise for family members, especially when the patient is a young child.

It is harrowing to listen to the experience of some family members when a young child has a rare disease and they have to overcome many problems and battles. I will give the House a number of examples as these can tell the story better than I can. These examples were provided by Andrew Kehoe from Rett Syndrome Ireland. Rett syndrome is a rare neuro-development disorder which affects primarily females. I will give the House an indication of some of the problems which are experienced by young females with this disorder as described by Andrew Kehoe.

The length of time it can take to get the first appointment with a neurologist when initial signs of aggression appear can be anything from six to 12 months. Also, the gap between appointments afterwards is too long and this prolongs the length of time it takes to get a correct diagnosis. This process can take years and it can be a very traumatic experience for the whole family. Without a firm diagnosis a child cannot access vital services. At diagnosis stage, many families are given little or no information.

Accessing appropriate and adequate services from the HSE becomes a constant battle for all families, to some extent, but can vary depending on the geographical location. Accessing appropriate school placements and SNA allocations from the Department of Education and Skills is a constant struggle for families qualifying for the domiciliary carer’s allowance and medical cards. One of the issues raised was that some people with a rare disease must have their medical cards renewed every year. Surely this rule should be examined and the medical card should be issued for life. They should not be forced to reapply year after year with all the attendant problems in the national centre. This issue could be addressed very promptly. Respite [103]services are completely inadequate and in many cases, not available at all. Facilities in hospitals are inadequate to cater for the needs of disabled people with regard to lifting hoists, shared tables and changing areas and waiting times for critical operations. There is a lack of service provision for girls once they reach 18 years and school-leaving age and many stay at home full-time until their parents or families can no longer look after them. There is no independent inspection or regulation of service providers for the intellectually disabled.

These are not my points but rather this information comes from a person who advocates on behalf of parents. I fully support the call to establish a national centre which would oversee access to information and which would provide information for GPs. Senator Crown made the point at the meeting of the Joint Committee on Health and Children that in more global terms there should be a European centre and also a national centre. We also need a national plan to deal with all those issues such as barriers and struggles faced by families in the past. I refer in particular to the diagnostic journey and also access to services. These should not be problems to be overcome or encountered in the future.

This all comes back to the question of resources. One of the questions asked by a delegate at the Joint Committee on Health and Children was why Ireland has not ratified the UN Convention on the Rights of Persons with Disabilities which Ireland signed in 2007. I am not in a position to answer that question but perhaps the Minister of State can supply a response. I stress the importance of ratifying this convention.

I welcome the motion and that this issue was discussed at the joint committee. However, the focus and spotlight must be kept on this issue so to ensure that the steering group comes up with the right solutions. We do not want to be back here in two or four years or five years with advocate organisations still giving personal testimonies of what it is like for them and the families and patients. It is bad enough that a person is diagnosed with a rare disease without having to deal with all those problems which present because he or she cannot gain access to the required services. It is vital that these services are accessible and the best way to ensure this happens is to have a national plan which will identify the needs and which is properly resourced. I hope the Government and the Minister of State will implement such a plan. I welcome the comments of the Minister, Deputy Reilly, and acknowledge his presence during this debate which sends an important message. He said he would take this issue seriously and that the Government will act on this issue. I hope it will do so. The House should give the Minister our full support, across all parties and none, on this issue because of its importance.

Senator Martin Conway: Information on Martin Conway  Zoom on Martin Conway  Well said.

Senator Mark Daly: Information on Mark Daly  Zoom on Mark Daly  I support the need for proper resourcing and structures to be put in place for those with rare diseases. I welcome the Minister of State to the House. I am sure she is aware of the comprehensive report by the patient support and empowerment sub-group on this issue and chaired by Tony Heffernan, who is well known to me. In the case of cystic fibrosis, one in 20 people in Ireland carry the gene for this disease and this country has one of the highest rates of prevalence in the European Union. There is, however, a gap between what can be done for patients and what is being done in practice. In many cases this is not about funding but rather to do with the issue of transplantation. A transplant authority has been established but is not fully functioning. There is also the issue of required request and whether every accident and emergency department should have a mechanism and a protocol to make a request of families to consider a donation of organs. This would make a significant difference and could transform more than one life.

I know the Minister is aware of the recommendations of the patient support and empowerment sub-group. These recommendations are practical and some involve a cost but [104]the Minister of State, Deputy Shortall, has encountered people who have these rare disorder and who have suffered stress as a result of a tardy diagnosis or a misdiagnosis, as illustrated by my colleague from Waterford, Senator Cullinane. It would make sense to establish a national council and office and a portal for dealing with rare diseases council as this would ensure that the families who have personal experience of the inefficiencies in the current services and other families in the future will not suffer as Tony Heffernan and others have suffered.

I am aware that the establishment of a special social support services to ensure delivery of service and a patient-centred and co-ordinated approach at all stages is an issue of protocol and of funding. However, if the protocol is in place, at least when funding becomes available, then health service support staff would have guidelines to follow. It should not be a case of different protocols between hospitals, as this is often the case, when it comes to diagnosis.

I have personal experience of the difficulties experienced by the Heffernan family as a result of delayed diagnosis when it was not discovered why their child was having so many seizures, up to 20 in a given day. They attended the neurological services in Dublin and in Tralee but they experienced a delay in diagnosis. Once the correct diagnosis is made, the pathways to treatment and care and the access to medicines are clear. My colleagues have referred to the issue of warfarin and the information centres and what needs to be done in this regard.

I know the Minister of State is aware the issue is one of funding as much as anything else. We can develop and take best practice from European countries that have already set up offices for rare disease. We do not have to reinvent the wheel but can see what was done elsewhere, for example, having a national register of rare diseases, in the way they are diagnosed, described and prioritised in other European countries. Some diseases have different names in different countries, as in the case of one of the more famous of them, Lou Gehrig's disease.

  5 o’clock

There must be implementation of a national plan and the Minister of State has the recommendations and the report. While I was watching the debate on the monitors, I was glad to hear the Minister, Deputy Reilly, state he was taking the issue seriously and would try to put the available resources towards it. Although the diseases are rare, many families are affected, including not only actual family members but all the loved ones around who try to support them. It is not only the situation of not knowing, after the diagnosis is made, which is a trauma in itself, but there is also the sense of loss, finding out where to go within the structures of Government and learning how to find other families affected. That is why support groups set up by families who have gone through the system are invaluable. We owe an enormous debt to all those who have continued on with this work, in spite of the loss of loved ones to the disease. They continue in memory of those they have lost and to try to help others in the same situation.

I thank the Minister of State for attending this debate and look forward to hearing her response to this most valuable document.

Senator Colm Burke: Information on Colm Burke  Zoom on Colm Burke  I thank the Minister for Health, Deputy Reilly, and the Minister of State, Deputy Shortall, for attending the House to deal with this matter and listen to Senators’ views. I thank all the Senators who contributed to the debate. Everybody who did so was very constructive and supportive of the work the Minister and the Department have done to date in dealing with this matter by setting up the taskforce and ensuring there is a timeframe to deal with this issue. That is extremely important.

The Minister indicated the report of the task force will be in place towards the end of the year. I welcome that today he advised us that a proposal has been submitted to the HSE national director of clinical strategy and programmes about establishing a national clinical [105]programme for rare diseases. It is good that a proposal has been submitted but what is important now is that the proposal be looked at and implemented at the earliest possible date. I ask the Minister that this be put in place as soon as possible because it is very important.

All speakers mentioned the availability of information and ensuring that once a problem is found, first, the disease be identified and then that the programme of care be put in place at a very early date. A number of people made the point that we will have the Presidency of the European Union in 2013. Again, I refer back to November 2009 when the European Commission set out a strategy to deal with this from a European point of view. This is a considerable opportunity for us to take the lead in this area during our six months, not only by ensuring our own plan is in place by December 2012 but then by leading. That is very important.

Every speaker emphasised that the priority is for the families who have to deal with an issue like this, which is so very difficult. I have met a number of families in recent months and have had to deal with fund for treatment abroad for those who could not get the proper treatment here. People have such passion, commitment and emotion as they try to get the treatment they require. When one meets such a family one sees it is a 24-7 job for them. It is our duty and that of the Department of Health and the HSE to ensure we can lighten that workload.

What struck me during the debate in the Oireachtas joint committee was the commitment of people in this area. I acknowledge and thank all those who attended today, including Avril Daly and all those with her and Tony Heffernan, who was involved in B for Battens and has had his own long road dealing with his own situation but who has tackled the issue and been very innovative in the way he has approached it. I also include all those involved in fund-raising for many of these organisations. We should not ignore them because much of the work would not be done without the voluntary fund-raising work of a great number of organisations and by people who are not members of any organisation but who come along on the day to give their help and support.

I thank Senators for their contributions, including the Acting Chairman, Senator van Turnhout. I thank her, too, for dealing with this debate. This is a useful forum for highlighting an issue of this kind. I have marked down the end of October in my diary in order that we will not have to wait for the end of December for this to be finalised. The Minister of State should not be surprised if there is another motion in this House at that time.

Question put and agreed to.

Acting Chairman (Senator Jillian van Turnhout): Information on Jillian van Turnhout  Zoom on Jillian van Turnhout  When is it proposed to sit again?

Senator Maurice Cummins: Information on Maurice Cummins  Zoom on Maurice Cummins  Ar 10.30 maidin amárach.


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