2026-06-18

I begin not with policy, but with people. I acknowledge with sincerity and respect the people across Ireland who are living with a rare disease and the parents, partners, children, siblings, carers, families and friends who walk that journey with them every single day. The Government is committed to improving the lives of people living with rare diseases. That means working to support earlier diagnosis, better co-ordinated care, appropriate access to treatment and stronger patient partnership. I acknowledge the work of Members of both Houses, including Deputies Lahart and Pádraig O'Sullivan and Senator Costello, in continuing to raise awareness of rare diseases and the experience of patients and families. We know that many rare conditions are complex, lifelong and, in some cases, life limiting. We also know that families can face real challenges in accessing diagnoses, services, medicines, technologies and supports in a timely and co-ordinated way. That is why the programme for Government includes commitments to publish and fund a new national rare diseases strategy, improve access to orphan medicines and examine new approaches to earlier reimbursement of certain treatments, including an early access scheme for rare diseases. Last August, we published the National Rare Disease Strategy 2025-2030, which gives Ireland a clear national framework for improving diagnosis, treatment and support for people living with rare diseases. At its heart, the strategy is about improving quality of life, supporting fairer access to healthcare and making sure that innovation in research and treatment translates into real benefits for patients and families. It responds to a reality that many families know all too well. While each rare disease may affect a small number of people, rare diseases together represent a significant public health challenge. An estimated 300,000 people in Ireland are living with a rare disease, and the impact on individuals, families, health services and wider society can be substantial and complex. To ensure the strategy moves from words to action, a three-year strategic implementation plan is being finalised. Its purpose is to turn the strategy's recommendations into clear actions, timelines and governance arrangements in order that progress can be planned, tracked and delivered in a way people can see and feel. The first phase of implementation will focus on priority actions across several important work streams, including research and innovation, international co-operation, European reference networks, data and registries, education and public information, and screening, diagnosis and access. Across all of that work, three cross-cutting themes will remain central, namely, governance and accountability, implementation and monitoring, and patient partnership. The latter is highly important and even more so when it comes to the nuances of people's experience of rare disease. In every discussion about rare diseases in this House, people reference the real lives of the children, young people, adults and families in their areas who carry a weight that is often unseen. Families may spend years searching for answers, moving from appointment to appointment and telling their story again and again, hoping somebody will join the dots for them. For many people, living with a rare disease is defined not only by a diagnosis, but by uncertainty, waiting and having to navigate a system that was never designed for something so complex. That is why it is so important that we are discussing rare diseases here today. I thank those who called for the debate, including Deputy Pádraig O'Sullivan, who is in the Chair. It is important that we lend not just our voice, but also our commitment to action. Collectively, rare diseases are not rare at all. There are more than 8,000 different rare diseases, with approximately 300,000 people in Ireland and 30 million people across Europe living with such diseases. That is one in every 17 people. It is not a marginal issue. In fact, it touches every community, every county and every constituency represented in this House. One of the strongest messages I hear, and I know Deputies hear it too, is about the importance of listening to patients. People living with rare diseases want their experiences to shape the services on which they rely. They want to be treated as partners whose expertise is trusted. The national rare disease strategy makes clear that people living with a rare disease must be treated not as passive recipients of care, but as equal partners in shaping policy and services. That is fundamental to better decision making, better design and better outcomes. It is why patient and public involvement must run through every aspect of our response, from policy formulation and service design to research, clinical trials, awareness and education. If we are serious about reform, we must be serious about listening and about how we listen. A point I hear clearly from patients, families and advocates relates not only to access to care, but to how that care is experienced. For many people living with rare diseases, care can still feel fragmented, with different appointments, different specialists, different locations and different parts of the system that do not always connect as they should. That is even more significant when it comes to parents bringing their children to different appointments in the paediatric hospital system. That process could be much better co-ordinated from the perspective of the child and the family, particularly those families that have to travel for appointments, which often will be many times in a single month. When that disconnect happens, the burden falls on individuals and their whole families as they try to hold everything together. The national rare disease strategy is very clear on that point. It calls for equitable, inclusive and integrated health and social care, including access to wrap-around supports, better transitions between child and adult services and improved care co-ordination. It acknowledges the particular burden created when people and families are left to co-ordinate complex care themselves across multiple specialties and settings. A total of 13 care co-ordinators have been provided to support patients in navigating the health service. We are also continuing to develop integrated rare disease care pathways, several of which have already been developed and approved. The HSE's national rare diseases office hosted a symposium in May focused on improving diagnostic pathways, care pathways and supports. It brought together patients, policymakers and healthcare professionals. Two further events are planned later this year. That engagement is important. Care pathways are not an abstract policy tool. For people living with rare diseases, they mean the difference between joined-up care and fragmentation; between clarity and confusion; and between confidence and crisis. We must be honest in acknowledging that accessing integrated, organised and well-co-ordinated care remains one of the major pressures felt by families, as they have articulated clearly. When community, disability, primary care and acute services do not align as they should, the burden falls back on the individual and the family. That is not fair. Awareness and education among healthcare professionals are greatly improving and the implementation plan addresses those issues directly. For far too many families, however, their experience is still one of navigating complexity alone. When I launched the national rare diseases strategy last August, a phrase that really stuck with me, which I understand captures the experience of many families, is "diagnostic odyssey". It refers to the long, painful journey to find out what is wrong, which often leads to years of uncertainty in which symptoms progress but answers do not come. The strategy addresses this directly, acknowledging that many individuals wait far too long for an accurate diagnosis and that this delay can have lasting consequences. This situation is not unique to Ireland. The World Health Organization has highlighted that many people across the world never receive a timely or adequate diagnosis. It has emphasised that improving early diagnosis must be a priority. When diagnosis is delayed, everything else is delayed, including access to treatment, support and understanding. That is why early diagnosis is so crucial. It helps to bring certainty and, in some cases, it can change the course of a condition entirely. That is why the continued expansion of newborn screening is such an important step forward. I acknowledge the presence in the Chamber of the deputy chief medical officer, Professor Ellen Crushell, who works in paediatric care and is working alongside me to try to bring in as many conditions as possible. We have seen progress this year with the introduction in April of screening for rare conditions such as severe combined immunodeficiency, SCID, and spinal muscular atrophy, SMA, which brought the total number of conditions screened for under the newborn bloodspot screening programme to 11. This can allow intervention to begin earlier, when it matters most, thereby slowing or preventing progression in some cases. This is just a beginning and not the end. Every step we take toward earlier diagnosis is a step towards a fairer system in which families do not have to fight so hard simply to be understood. The national screening advisory committee, NSAC, and its dedicated newborn screening subgroup continue to work to review and consider further expansions of the newborn screening programme. I have given a political direction that it is an absolute priority to work as quickly and efficiently as possible to bring in as many conditions as we can as quickly as we can, recognising the enormous impact it can have on families to be able to find out what the situation is with their child much sooner than might otherwise be the case. The national strategy for accelerating genetic and genomic medicine in Ireland was launched in December 2022. It sets out a clear vision for a modern, national genetics and genomics service that is equitable, timely and centred on patients and their families. It recognises that advances in genomics are transforming how we understand disease, particularly rare disease, and commits to building a system where people can access the right test at the right time informed by clinical need. In practical terms, that means developing national infrastructure, strengthening laboratory capacity, supporting clinical workforce expertise and ensuring genetic and genomic services are integrated into everyday care in order that earlier diagnosis becomes the norm, not the exception. The HSE’s national genetics and genomics office was established in 2023 to implement that strategy and to co-ordinate a national approach to genetics and genomics, ensuring patient and public involvement and partnerships, building the workforce for the future, enhancing clinical services, and strengthening infrastructure. We are now beginning to see that vision take concrete form. The national genomic test directory, launched at the end of 2024, is a significant step forward in delivering a more consistent and equitable approach to testing across the country. It was developed by the HSE’s national genetics and genomics office and the directory sets out clearly which genetic tests should be used for specific clinical indications, who should receive them, and how they are to be delivered. It is designed to ensure that patients receive the most appropriate test, in a timely way, and in the correct setting, reducing variation, avoiding duplication and supporting better clinical decision-making. The test directory's initial focus was specifically in the area of rare and inherited diseases, and now it is looking to expand the test to other specialties. The test directory operates alongside the national genomic processing service, which was launched earlier this year. This is a centralised pre- and post-analytical service that manages sample processing and routing to quality assessed laboratories for genomic testing, as well as the return of associated reports, which then streamlines and accelerates the flow of samples and results. For families who have too often experienced delay and uncertainty, this represents an important step towards a more streamlined, predictable, and responsive diagnostic system, one that can shorten the diagnostic journey and bring clarity sooner in the lives of those who need it. We will continue to strive for timely diagnosis through improved care pathways and build our capacity in genetics and genomics. I want to speak also about hope because hope is often what sustains families through the hardest moments. For people living with rare diseases, that hope is often tied to treatment, particularly in relation to orphan medicines. These are often newly developed, high-tech and high-cost treatments, with limited or emerging evidence. These are treatments that give people hope where it might not otherwise be found. Specific treatments have only been developed for a small proportion of rare diseases, which makes every advance significant. The national rare disease strategy recognises this reality. It clearly states that orphan medicines can offer hope where previously little existed, and it aligns with the programme for Government commitment to review options for earlier reimbursement of orphan medicinal products and to examine, which we are doing, early access schemes for rare diseases. The Government recognises the importance of access to innovative medicines for patients in Ireland, especially for patients diagnosed with rare diseases. Annual public expenditure on medicines is now approaching €4 billion, which is an extraordinarily sizeable sum and a very significant investment by the State. Recent budgets have provided dedicated funding for new medicines, supporting the HSE in approving reimbursement for a substantial number of new medicines, including many medicines for rare diseases. The recent framework agreements on the supply and pricing of medicines, finalised in March 2026, are designed to enable faster access to new innovative medicines, to strengthen security of supply, and to support a structured process towards a 180-day timeline for reimbursement decisions by quarter 1 of 2029. I want to thank all of the State representatives and pharmaceutical sector representatives who concluded this agreement because it is for the benefit of all of us that we have this measure of certainty for the next four years, particularly at a time of very difficult and changing geopolitical external circumstances. Crucially, the State and the pharmaceutical sector also agreed to develop a piloted, early access programme for rare diseases, in line with the programme for Government commitment. That matters hugely. For families waiting for access, timelines are not abstract. They are measured not in months but in moments that matter to each person and each family. I am conscious that access to orphan medicines is complex. It necessarily involves questions of evidence because we are a country that is still determined to focus on science and scientific outcomes and evidence. It necessarily involves questions of evidence. It necessarily involves budget implications, sustainability and fairness across the health service. Those are practically impossible conditions to ask anybody to make decisions in and yet the people in our national centre for pharmacoeconomics are tasked with making exactly those decisions. I want to thank them for their work in making such complex and difficult decisions. We are trying to improve the system responsibly, transparently and in a way that better serves patients. That is why I have now approved a comprehensive, end-to-end review of the entire medicines approval and reimbursement services, covering every stage, from initial assessment through to final patient access. That has now progressed to tender stage, with an anticipated completion timeframe of six to nine months, once the contract is awarded. The aim of the work is clear. It is to identify where delays in our processes arise, where our processes can be streamlined and how we can ensure that decisions are made as efficiently and transparently as possible, while maintaining the necessary rigorous clinical and value assessments. I want to be clear that it is up to us to be disciplined in our processes but it is also the responsibility of the pharmaceutical companies that have developed these medicines to make the applications to us in a timely and complete way so that people know that we are able to assess them. That is not always the case. Sometimes the fault is on our side and sometimes it is on theirs. What we are trying to do is make sure that our processes are as robust and tight as possible in every way to make sure we are discharging our obligation and responsibility to get the medicines we can get that are evidence based and that we can sustain for people who need them. The framework agreement we reached, the early access, the commitment to the move towards a 180-day reimbursement timeline and partnership and urgency from all parties can translate into faster, fairer access to orphan medicines for those who need them most. This is exceptionally important to me my Department and I know to every person in this House. I am very conscious of the advocacy of individuals and families whose lives have been affected by rare diseases. Some of those have been very topical and in the news because of European Medicine Agency, EMA, approval for certain drugs. Many of those drugs are not available across Europe at the moment. It is very much a country-by-country experience at the moment. I am conscious, in particular, of those people whose lives are affected Friedreich’s ataxia, a rare genetic neurological condition. I know that many Deputies may raise access to treatment for this condition today, and I want to respond carefully and respectfully. I met many of the families and many of the people suffering from Friedreich's ataxia, privately and in the audiovisual room briefing. I was very glad to have the opportunity to meet those patients, as I have had the opportunity to meet other patients. Skyclarys has been authorised at European level for Friedreich’s ataxia. In Ireland, as with other medicines, any decision on reimbursement must follow the statutory pricing and reimbursement process I have just described. The National Centre for Pharmacoeconomics carried out a rapid review and recommended a full health-technology assessment to consider the clinical effectiveness and cost effectiveness of the medicine. That application remains under active consideration by the HSE. The discussions and the information received and the timing is all of real interest - of course, it is - to all of the patients and their families. Again, I would reference my earlier comments about the need for both parties to provide all the relevant information at an early stage. The application remains under active consideration and I cannot discuss commercial negotiations, which are confidential to the State and would prejudice all us were I to do so. Please forgive me that I am not able to go further in my remarks than this. I want to emphasise that, as Minister for Health, I do not necessarily have a role in pricing and reimbursement decisions. We have created our political institutions to be robust and independent. We have given protection to scientists making these decisions in our collective interest. We have increased access to medicines because of the processes that we have put our confidence in. That will generate many good days and it may also generate difficult days but we have to continue to believe in a system that is based on science and that has served us well so far. The decisions are made by the HSE under the 2013 Act, which Deputies are familiar with. They are informed by clinical, economic, budgetary and other relevant considerations. No reimbursement decision has yet been made on Skyclarys. I really understand that for families this sort of process language can feel very distant from the reality of living with a progressive condition. I also understand the frustration when a medicine has been authorised at European level but has not yet completed the national reimbursement process. I discussed this with my colleagues in Luxembourg on Tuesday last. We talked about the difficulties that many countries, particularly small ones, are facing in this regard. This drug is not authorised or available right across the EU. It is different in every country. However, the issue more broadly is about access to drugs and companies making applications for drugs that have been approved by the EMA and to be able to be the sort of market that can attract and fund applications is really difficult for many of us. I still feel that many of the European countries are working - not deliberately against each other as such - in a vacuum of information because of the confidential pricing structure that in many cases gives all of the information to the company and not to the European states that might work better in partnership. We really need to reflect on this. As I said, authorisation and reimbursement are at different stage right across Europe in relation to this medication and other medications. I have asked my officials to continue to engage very closely with the HSE on the progression of all rare disease medicines through the reimbursement pathway while respecting the statutory independence of the HSE’s decision-making process and protecting the independence of the scientists involved. I fully understand the extreme difficultly for families. That is why the wider programme for Government commitments on orphan medicines, reimbursement timelines and early access are so important. We must improve access responsibly, fairly and transparently while ensuring that decisions are evidence based, science based and sustainable for the health service as a whole. We are beginning to see tangible progress in individual conditions. One example is Duchenne muscular dystrophy, a rare, progressive and life-limiting condition that affects boys and young men and on which families have advocated. I was pleased to have the opportunity to meet some of the patients and families who were waiting for a reimbursement decision following EMA approval last June. I am pleased to say that the medicine givinostat was recently recommended for reimbursement by the HSE’s drugs group and was approved by the HSE senior leadership team just this week. It represents a positive step forward, not only for those directly affected, but for what it demonstrates more broadly. I thank the HSE for the speed with which it acted in relation to this at health technology assessment, HTA, level, at rapid review level and at every other stage of this process. Where the decision or process was with the HSE, it acted with real speed. In order to get this application made in Ireland, I had to ask the Italian health minister not once, but twice, to encourage the Italian company to make the application in Ireland. The Taoiseach had to ask Prime Minister Meloni to encourage the Italian company to make the application in Ireland. That was a real barrier and we were trying to do our best within it. I hope that the genuine efforts we are trying to make within the constraints of companies making applications within Ireland is reflected honestly to patients, both as regards givinostat and the other medication, Skyclarys. It shows the drive and resolve of the HSE in terms of making these decisions very quickly and not adding to the time it takes to get access to important medicines. I want to reflect that we are seeing important developments at a European level that will help shape access to medicines for people with diseases, in particular rare diseases. The reform of the EU pharmaceutical legislation, often referred to as the EU pharma package, is the most significant overhaul of the sector in 20 years and has a clear focus on access to safe, effective and affordable medicines. We are trying to actively see how we can partner with other member states to make us a more attractive market for pharmaceutical companies for new and innovative drugs. For orphan medicines, we are trying to strengthen incentives for innovation while encouraging faster and more consistent availability of treatments. That complements wider European work on critical medicines, biotechnology, life sciences and clinical trials, and it reinforces our own national efforts. With the European Presidency, I will be president of the European health Council and Ireland will hold the pen to make as much progress as possible in relation to medical devices regulations and the biotechnology Act, as well as progressing the trilogues with the European Parliament on the biotech directive. With the Minister, Peter Burke, I have just from four hours of meetings this morning with the life sciences and pharmaceutical sector to work out how we can do better at bringing the innovation that is developed in Ireland to patients in Ireland through the life sciences strategy and other ways. We really are trying. However, it is important that people understand that, by virtue of our small market size, Ireland is not always prioritised by pharmaceutical companies launching new medicines. We benefit from working with like-minded states such as through the Beneluxa initiative. Beneluxa plays a role in member states’ shared priority of securing access to high-cost, innovative treatments in an affordable way while respecting the national competencies of pricing and reimbursement. We have been working closely on the initiative on horizon scanning, health technology assessments, information sharing and policy exchanges but there is a great deal more we can do in streamlining European processes. We have had some success through the Beneluxa initiative already, for example, the reimbursement of Libmeldy, and we will continue to progress that. We can speak later to research but the treatment of rare diseases is increasingly recognised internationally as a core health policy. The World Health Assembly adopted its first ever resolution on rare diseases in 2025. Ireland is supportive of that. We need a much stronger European environment drawing together all of the different aspects of the EU health and life sciences plan. This can help us get drugs to people who need it. I started with people and I want to end with people. All of my officials and all of the people in the HSE are just people as well, cognisant of the impact of the decisions, access and speed at which we work on the lives of people with rare diseases. We are here to do everything we can to try to maintain our science- and sustainability-based system and to deliver for the people whom we know need the help we can try to get them.

I now call Deputy Cullinane.

I want to start by commending the Cathaoirleach Gníomhach and the role he has played in campaigning for better supports for patients with rare diseases. Rare diseases affect more people than many realise. A rare disease is defined broadly as a life-long or life-threatening condition affecting no more than one in 2,000 people, which essentially means a condition that affects no more than 3,500 people on our island. Taken individually, these conditions are rare. Taken together, they affect one in 20 people across Ireland. This means hundreds of thousands of people, parents, children, carers and families whose lives are shaped by conditions that too often the health service is not properly equipped to understand, diagnose, treat or support. For those families, rare disease is not an abstract policy area; it is daily life. The shortcomings and successes of the health service and medical research define their lived experience. This too often manifests as a long wait for a diagnosis, if one ever comes; long distance travel across the country and abroad to find a suitable expert; and fighting for access to scans, therapies, medicines, educational supports, home supports, disability services, mental health supports and, at times, medical cards. Parents and families become case managers, counsellors, researchers, advocates and campaigners because the State has not put the right supports in place for these communities. People living with rare diseases face that on top of the same capacity problems, waiting lists and delays in physical and mental health services that we know exist right across the board. The publication of the rare disease strategy was, therefore, a very important and welcome step. It is a long overdue strategy and is essential for realising earlier diagnosis, care co-ordination, registries, research, access to medicines and harnessing the capacity of the health service and medical research to improve lives. The test will be in the implementation and delivery of measurable progress. A second test will be whether the HSE and the health and social care trusts in the North can genuinely come together to maximise access to care and expertise, given that we are talking about very small groups of patients who will be better served if we optimise services through all-island delivery. Awareness is the first challenge. Rare disease patients are too often met by a system that has no or limited knowledge of their conditions, where to refer them or how to support them. This means that symptoms can be missed, referrals delayed and families left scrambling for answers. Earlier diagnosis will require better awareness across primary care, emergency care, paediatrics, adult services and community services. It also requires investment in genetics and genomics, which the Minster mentioned, genetic counselling, laboratory capacity, data systems and specialist workforce planning. We cannot promise earlier diagnosis without building the capacity to deliver it. Care networks are just as important. Patients should not have to rely on luck, personal advocacy or overseas contacts to access expertise. Care pathways must be strengthened. We need proper clinical links, referral routes, shared learning and all-island co-operation to maximise the capacity and expertise shared across our health services for these very small groups of patients. For some very rare conditions, the number of patients is so small that collaboration across Ireland, across Europe and between specialist centres is essential. Complex rare disease cases should have accessible key workers who can manage them. The time and emotional burden of a rare disease is enormous. Families should not be left to manage it all by themselves and to co-ordinate appointments, therapies, medicines, travel, disability supports, social protection supports, school supports and home care on their own. I want to talk about access to medicines for rare diseases because it is an area that needs to be reformed. The Minister mentioned givinostat and Skyclarys. Delays in this area have an impact on patients. I think we all accept there must be a process to protect the taxpayer and secure value for money and, of course, the independence of it and the scientific underpinning but the current reimbursement process is not designed properly for rare diseases. Applying the same cost-effectiveness model used for common medicines creates predictable delays and unfair outcomes because that system is not suitable for assessing orphan drugs. It is not good enough to tell people with rare diseases that they are too expensive to help. Ireland needs a dedicated, timebound reform of the rare disease medicines pathway.

I welcome the opportunity to speak about rare diseases today. One of my constituents has a rare disease and is a great advocate. Today, I wish to speak about a condition that affects thousands of people across Ireland, yet remains widely misunderstood and too often invisible, and that is neurofibromatosis, NF. Neurofibromatosis is classified as a rare disease. It is a genetic disorder that causes tumours to grow on nerves anywhere on the body. These tumours are usually benign but their impact is anything but. This can lead to chronic pain, disfigurement, hearing and vision loss, mobility issues, learning difficulties and, in some cases, life-threatening complications. As NF varies so wildly from person to person, no two journeys look the same. Despite the seriousness of this condition, neurofibromatosis remains under-recognised and under-resourced within our health service. For those with the condition, one of the biggest obstacles to care is delayed diagnosis, and many families spend years trying to obtain that diagnosis. If they do eventually get it, access to specialist care is extremely limited. An early diagnosis is essential for issues such as medical management, psychological care and educational supports. Of equal concern is that there is no neurofibromatosis centre in Ireland, meaning patients rely on fragmented services spread across multiple hospitals and healthcare settings. Children may receive good paediatric support but once they turn 18, they face many difficulties in accessing the care they need. Adults with NF struggle to access neurologists, psychologists and pain and other specialists who understand their condition. Over the years, I have submitted many questions in regard to all these areas and I hope the Minister will continue to work with me on this issue so we can provide better services for those who are affected. I had two children in with me on work experience last year, Paul and Charlotte, twins who both suffer from NF. They were a joy to have in the office for the few days. Their two younger siblings, Rafael and Roman-Jean, also have NF, as does their mam, Gillian. Gillian lives in Maynooth and she really is a great advocate in campaigning to get a neurofibromatosis centre in Ireland. We talked about orphan drugs. I often feel very sorry for the man who goes out on "Prime Time" to explain why they cannot cover this drug or the delay, particularly when drug companies make so much money. When you think about the people and the scientists who work in those laboratories, they are not doing it for the money; they are doing it for the recognition and because there is a drive in them. It is really important that we financially support the research into this. Maybe it is for legacy that they want to do it but they do want our interest. The motivation is not always money but they do need the support.

I strongly welcome this debate on rare diseases. Only last week, I had the privilege of welcoming young adults living with Friedreich's ataxia, FA, to Leinster House. Tragically, they are waiting and watching their conditions deteriorate rapidly, not due to the lack of medical progress but due to what I can only call administrative neglect by the HSE. Skyclarys is a breakthrough drug for those over 16 with FA. It is widely used across European public health systems, yet it remains out of reach here. These families have now endured nearly 700 days of anguish waiting for the HSE to decide on the reimbursement. The paperwork was submitted ahead of the deadline for the last meeting. The families have proof but the HSE's response was that while it was submitted on time, it was not opened until after the deadline, and it was, therefore, excluded. What kind of underhand carry-on is this?

That is just not true.

Can the HSE simply shut its eyes and pretend it saw nothing? Then we had the Taoiseach stand up here last week and give a different date, adding insult to injury for families already at breaking point. There is no accountability on that side of the House. I have spoken to Emily's family throughout this week. They are devastated. Once again, they have been kicked in the teeth and kicked to the back of the queue. As a mother of four young lads, I find it crippling to see what these parents endure watching their children's health decline while the HSE drags its feet. No parent should have to fight this hard for their child's treatment. Just this week, they got more bad news. The specialist clinic recommended annual visits but, due to resource shortages, it only sees the patients every 18 months. This has now been pushed from August to October. Friedreich's ataxia places immense strain on the heart. Emily's cardiac check-up is now delayed far beyond clinical recommendations. That is simply not acceptable. We need adequate resources for these combined ataxia clinics immediately and we need the Taoiseach to correct the Dáil record on what he said last week and acknowledge the profound hurt he has caused those with FA and their families. They deserve better. They deserve action and they deserve it now. When is the next HSE drug group meeting and will they be included on it? If Skyclarys cannot be introduced fast enough, can there be an interim access where they can get it, whether it is through Europe or if there is another way? Every minute, as the Minister knows, it is debilitating for them.

Deputy Ward might indulge me for a moment.

Go ahead, a Cheann Comhairle.

The tours are on, and I wish to welcome the members of Rosslare Harbour Women's Shed who have come to visit us today and are in the Gallery. They are most welcome. I call Deputy Mark Ward.

I welcome the women's shed here as well. My family now lives in Wexford as well. My father is in the men's shed in Gorey and he loves it down there. Thank you, a Cheann Comhairle. I am delighted to have the opportunity to talk about rare diseases. I have been contacted by many residents in my area about Duchenne muscular dystrophy. As the Minister knows, Duchenne muscular dystrophy is a severe, progressive genetic disorder that weakens muscles and affects around 100 children in Ireland. Two of those children are in my area. They are brothers Conor and Dean from Lucan. They are nine and ten years of age. I met with their parents, Karen and Jamie, as they fought to secure life-saving treatment for their two beautiful boys. They were campaigning for their boys to have access to the drug givinostat. Givinostat is not available for Duchenne muscular dystrophy in the Republic of Ireland despite being available across the North.

It is available, since yesterday.

I was at a recent briefing in Leinster House and listened to families affected by Duchenne muscular dystrophy. I cannot say there was one person who left that briefing, across the parties, who was not affected listening to the real-life stories of these families' struggles in trying to get this lifesaving drug. I thank every person who contacted, rang or emailed me or called to my constituency offices in relation to this. There has been progress and I welcome the Minister's comments in relation to the progress. I accept the struggles she had with other jurisdictions in trying to get this across the board so that is to be welcomed as well. While it is welcome, we still have a bit to go. What I would like to see happening is that the next step in this process is not delayed. In fact, I would like to see the next step in this process prioritised so that the drug givinostat gets to the children who need it. Families should not have to watch their children lose abilities while waiting for access to treatment that already exists. Lost abilities cannot be recovered. As we heard directly from parents, "time is muscle". They are some of the most poignant three words I have ever heard in any briefing from anybody - "time is muscle". Every day these children are waiting for this life-changing medication, their children's muscles are literally wasting away. Parents and campaigners also want to see equal access to the drug for Duchenne muscular dystrophy. Campaigners want to see that the eligibility criteria for givinostat are aligned with the UK National Institute for Health and Care Excellence, NICE, approach, ensuring access for boys who can walk or stand with or without support. They are looking for the same criteria that is there so that boys in the South are not disadvantaged over boys in the North and everybody receives equal access to care. I will finish up on a small point. We are talking about early diagnosis and how it is key for early intervention. I speak as a person who is living with multiple sclerosis. I often say I am not living with multiple sclerosis but multiple sclerosis is living with me - and God love it. However, it took me a long time to get to that place. I know it is not a rare disease and there are about 10,000 people living with multiple sclerosis in Ireland but it took me a long time to get diagnosed. I was waiting to get diagnosed and get the treatment I needed. The treatment provided by the HSE is absolutely brilliant. The neurology service in Tallaght is absolutely fantastic. If you can get early intervention for no matter what it is, it makes a big difference. The access to public health nurses in Dublin Mid-West needs to be looked at. There are children who are not getting their full developmental checks and that is something we could look at as well.

It is welcome that the issue of rare diseases is on the political agenda. It has been neglected for far too long. In a large part, it is thanks to the advocacy of parents and families as well as political allies within the system here. Members of the health committee, including Deputy O'Sullivan and Senator Teresa Costello, have raised this issue consistently. One of the things I find quite difficult as a health spokesperson is the fact we are constantly hearing from families and individuals who have to come to Leinster House and who have to campaign to get access to medication. We are talking about people who are sick, who have deteriorating diseases and who have limited energy. I do not think that energy or time should have to be spent campaigning, advocating and pushing the political system into reform. It is something we need to reflect on and try to achieve change for people, so that families, young people and people with rare diseases can live their lives to the full and not have to spend their time and energy campaigning and advocating for progress on these issues. Any real reform of services and reimbursement processes would be far more beneficial than anything that is said in this House in terms of statements. That is what is crucially important to families. Last August, the new rare diseases strategy was finally published but it should not have taken seven years for a new strategy to be published. The previous strategy expired in 2018. Such an extensive gap without any guiding services or rare diseases policy is unacceptable and cannot be repeated again. Equally, we cannot afford a repeat of the failure to implement all of the recommendations from the last plan. It is one thing publishing a plan but ensuring it is implemented is something entirely different and the latter should be our focus. We see this across the board. In this State, we have implementation deficit disorder when it comes to many of the State's strategies and plans. Too often, they gather dust on the shelves of Government Departments instead of being implemented in full. I accept that this time around with rare diseases, an implementation oversight group has been established and that is certainly welcome. We need to see an implementation plan published that will outline the necessary actions required to achieve the strategy's recommendations. That must have timelines and funding commitments. That is crucially important for all of our strategies, in that they are time-bound and within the budget and there are the resources and funding to make sure the actions happen. Otherwise, we will not see progress. The programme for Government committed to publishing a new rare diseases strategy and that has been delivered. However, other commitments remain outstanding. The first is a review of the entire reimbursement process. A year and a half into the Government's term, that work is just beginning. I understand the tender details were only approved at the beginning of this month. We were told that this review, once commenced, would take about six months but given past performance, there are serious question marks on the timeline. Mazars, which carried out the previous reimbursement process review, was tasked with that job in 2019 but it was 2023 - four years later - before the long overdue report was published. Rare Diseases Ireland has raised concerns about the next review, given how little change the last review brought about. I can completely understand these concerns. Rare disease patients have already waited long enough and many do not have the luxury of time. More immediate action is required - not more delays. The current reimbursement process is failing patients, in particular patients with rare diseases. They should not have to campaign tirelessly to progress decisions on orphan drugs or need to lobby Government and Opposition to reform the reimbursement process. This is a heavy burden which the rare disease community should not have to carry. Take for, example, the children who have Duchenne muscular dystrophy. Last week, they finally received the good news that the HSE drug group recommended givinostat for reimbursement but they have had to campaign tirelessly and fight to get to that stage, all the while watching the symptoms progress.

That is just not true.

If I picked the Minister up right, I understand the HSE leadership has signed off on that. We want to know when drugs will be in the hands of patients. For those boys, every day without treatment means further loss of muscle functions. Some boys who were able to walk a year ago have since lost that ability. It is heartbreaking for parents to watch as their children's symptoms progress, losing their independence and mobility, especially when effective medications exist. It is also crucial that the eligibility criteria for givinostat mirrors that of the North. Across the Border, treatment is available to boys who can walk and stand with or without support. The same must apply in this jurisdiction. At the same time, people living with Freidrich's ataxia, FA, are still waiting for a decision on Skyclarys. This is the first and only treatment for around 200 people in Ireland living with this progressive and life shortening disease. It is those living with rare diseases and their loved ones who are forced to fight for access to treatment. Skyclarys has been shown to markedly improve neurological function in those with FA and they are still waiting for access. Their illness is not waiting; it is progressing every day. I understand an application for Skyclarys was submitted in August 2024, which is almost two years ago. What happened to the 180 day timeline for decisions? That obligation on the HSE is set down in legislation and yet, it is rarely met. I have been pursuing progress on the application for quite some time and have been repeatedly been told by the Minister that the HSE cannot comment on negotiations with pharmaceutical companies. I accept this but I do not accept the delays and the process is the problem. That is what we need to look at. We now know the HSE received a commercial proposal on 27 May and are waiting for the HSE drug group to make a recommendation. This must be prioritised and should be on the agenda for the HSE drug group meeting. That meeting should be scheduled without delay. The prospect of further delays cannot be countenanced and for people with FA, every delay means abilities lost and independence reduced. This is not just about some rare disease conditions or some treatments. We need to improve the system for everybody who has a rare disease. Otherwise, the same issues and delays will continue to occur. It is entirely predictable. We should not be putting any more patients with rare diseases and their loved ones through this. We need a system that works and this is particularly important when it comes to orphan drugs. We are still waiting for real progress on the programme for Government's commitment and the rare diseases strategy recommendations on an early access scheme for new medications for rare diseases. Ireland is an outlier in Europe for not having an early access scheme place. Yet, our Government has only just begun looking at this with a pilot initiative in development. Where is the sense of urgency? People with rare diseases need action now and, more importantly, greater access to innovative new medicines, like their counterparts across Europe. Without a specific system for orphan drugs, people with rare diseases will continue to have to protest outside the gates of Leinster House and tell their stories over and over again. This should not be necessary. People with rare diseases have enough to contend with without the emotional and physical toll of consistently having to fight for treatments and reforms of the system. I welcome the news on European co-operation on these issues and the opportunities with the European Presidency to have greater co-operation across Europe on this. I would also like to briefly speak about the newborn screening programme, which was recently extended to include severe combined immunodeficiency, SCID and spinal muscular atrophy, SMA. This expansion of the programme was approved by the previous Minister for Health, Stephen Donnelly, in 2023 and yet, it took three years to implement. This is despite the fact that funding was approved in 2024 to operationalise these additions. The previous Minister had said it will be rolled out by the end of 2024. That is simply not good enough. Additions to the newborn screening programme must be prioritised. This is made very clear in the rare disease strategy. The primary focus of the screening programme is to identify babies with rare conditions and improve outcomes. Early intervention can prevent the onset of disease symptoms or delay disease progression, improving the quality of life of newborns. According to the rare disease strategy, screening can be used for up to 50 rare diseases but Ireland still only screens for 11 conditions. While I accept there is considerable variation across Europe, Ireland lags behind the European average of screening for 18 conditions. As of last year, Italy was top of the pack by screening for 48 conditions. That was followed by Austria screening for 31 conditions and Portugal screening for 30. Clearly, Ireland has some distance to go if it wants to be a leader in this area and that should be our aim. I understand that HIQA is currently examining the potential addition of congenital adrenal hyperplasia, CAH, and a further three conditions will be considered following that. It is welcome that we are now seeing movement in this area. However, we cannot allow another three year window between announcement and rollout if these conditions are approved. I draw the Minister's attention to a survey conducted by Rare Disease Ireland earlier this year. In it, 60% of respondents were found to be pessimistic about the potential impact of the rare disease strategy to improve lives. That should give the Minister pause for thought. Almost a year on from publication, one thing is sure; it has not been a great start. People with rare diseases are continuing to be left behind by the system and this cannot go on. The second year of this strategy must deliver real change. People with rare diseases cannot wait any longer. As I was saying at the start, we find ourselves in the House making statements on the important issues,but not progressing on the reforms that are so badly needed. We should focus our time, energy and efforts in this Parliament on actually achieving change. I welcome the acceleration of legislation from the Department of Health. We got the legislation yesterday. However, we need to see more of that, more legislative reform across the board in the area of heath, and to see real change. That is what makes a big difference for people and families. It is not speeches in the Dáil that change lives for people; it is the work of real reform, improving services, improving access to drugs and changing legislation that has the real impact on people's lives. If we are going to have a Parliament that works better, that should be our priority.

I thank Deputy Rice. Before I call the next Member, I wish to welcome, from my own village of Ramsgrange, the group Blokes With Cameras. They have had a few women join them today and they are all most welcome. I now call Deputy Pádraig O'Sullivan.

I think it was five weeks ago the Tánaiste suggested we do these statements and I commend him for that. I thank the Minister for being here. We have had many a discussion over the 18 months since the Minister was appointed. I wish to start by commending her. She has showed an awful lot of interest in this area since she has taken up office; far more, than many of her predecessors of the ten or 15 years prior, I might add. I commend her for that. The news of the review was kind of lost last week with the whole reimbursement or the positive recommendation of givinostat, which was obviously very welcome. It is not fully there but it is a positive recommendation nonetheless. What got lost in that was that the Minister had started this end-to-end review. This was a programme for Government commitment, as she alluded to in her speech and it is something that I and colleagues in my party have long asked for. We chased, harassed and harried our previous colleague, Stephen Donnelly, in relation to such a review and could not get it over the line. I genuinely give the Minister honest praise for that. It is appreciated by the families concerned at the centre of these campaigns. I do not want to repeat a lot of what was said. We all have constituency clinics and meet patient groups and people who have these rare diseases. They rank amongst the hardest stories I have listened to in my seven years up here. Many people will be familiar with Friedreich's ataxia, which I know the Minister obviously cannot speak about today in any great detail. The heartbreaking stories of those families and individuals such as Craig Coady and Emily Felix have been referenced here, as have those of many people we have brought into the House. What those people have to go through is dehumanising in a way. They have not had the best luck in the world with the disease they were diagnosed with, and to compound that further we have a system that unfortunately nearly encourages them to go on "Prime Time", "The Claire Byrne Show" and come in here and bare their souls to us and to the nation. To me that is fundamentally wrong, but, nonetheless, they felt they had to do it. I am heartened in the last few weeks with the progress on givinostat, as I have said. I am not the most religious person in the world but I am saying prayers every night before I go to bed in relation to the Skyclarys drug, which, despite what was said earlier, will be at the next drugs group meeting in July. There is also an attempt to bring that meeting forward. It is incredibly difficult. I am encouraged by the Minister's words on this review when she stated that: The aim of this work is clear: to identify where delays arise, where processes can be streamlined, and how we can ensure that decisions are made as efficiently and transparently as possible, while maintaining the necessary rigorous clinical and value assessments. That is fine. That is good. We have already had the transparency piece answered by Mazars. Mazars was a bit of a letdown for me and for many other people involved in the campaigns over the years. It solely and exclusively dealt with transparency. It has achieved an awful lot in that regard, but the challenge is around the process. Back in 2021, I published a Bill which would provide a separate pathway, like other people have referenced here. I do not think any system - I referenced this when I was on "The Claire Byrne Show" recently - that assesses a cough syrup or a medicine for migraines should be the same one that is used for these high-tech drugs. It makes no sense. The implementation of a quality threshold per quality-adjusted life-year added is €45,000. We know these drugs are going to cost in excess of that. Again, adherence to that in the assessment needs to be reviewed. I will not give the Minister a lecture about it because the review will be the review and she will have all the professionals in the country feeding into it. I do hope it differs from Mazars and that it provides a meaningful review and not something tokenistic. Mazars was the provision of an online transparency tracker and that was kind of it. If it is tokenistic like that, then unfortunately it will not have my support. However, I am optimistic because the Minister has approached this in a very forthright manner and, as such, I hope this will be a fruitful review. I get very frustrated listening to people from within the Department of Health appearing on radio and TV justifying delays. As the Minister rightfully said, in the case of givinostat, she was able to knock heads together, reduce timelines and get people around the table. That did cut some of the waiting times in comparison with other medicines. The biggest delay in the system is the health technology assessment, HTA, and the negotiation piece, and there is nothing to stop us having that negotiation piece while people are accessing medicines. That can happen retrospectively and that also needs to be looked at as part of any review. It happens in other countries. There is also the possibility of burden-sharing and risk-sharing with drugs. Again, I hope that will feed into the review. Many other countries do it. If a drug is effective, then a company can get reimbursed. If a drug is provided and it is not effective, the company gets a reduced amount or does not get reimbursed at all. Schemes like that need to be looked at because the fundamental thing here is to try to get medicines to people as quickly as possible. However, my concern is that the argument of the rare disease drugs and the new cancer drugs is getting lost in that €4 billion. The new drugs budget typically ranges from between €20 million and €50 million per annum over the last few years. I am saying it and nobody has contradicted me. If the Minister has evidence to the contrary, I would like to see it or hear it. That represents less than 1% of the total drugs budget and for me that is not a meaningful apportionment of the existing drugs funding that is there. If clarity could be brought to me on that, I would appreciate it. I wish to speak about the delays. Yes, the HSE is to blame for some of the delays. Probably more often, drug manufacturers are to blame. That needs to be acknowledged. It also needs to be acknowledged that many manufacturers do not want to come here not just because it is a small market but because they know they are going to feed into a system that will, as was alluded to earlier, take between five and 800 days in going through a HTA predominantly and a reimbursement process that is not fit for purpose. I do not blame them if they go to Romania, Slovakia and Slovenia. We are not talking here about France, Italy and big countries. We understand why manufacturers go to those bigger markets, but there are other smaller countries across Europe which have a higher proportion of reimbursed drugs than we do. That is a fact. The number increased recently. I acknowledge that we have reimbursed the bones of 50 drugs, give or take, over the last three years, which was a dramatic increase on the previous decade. However, it must also be said that only 30% of all EMA-approved drugs in Europe are available here, compared with an EU average of 45% or thereabouts. Even on that 15%, if we could just get ourselves on a par with our European counterparts we would be setting the bar quite high. I would like to see that happen. The reason I became involved in rare diseases six years ago is that I met a constituent and supporter of mine who was diagnosed with a disease called amyloidosis. It was a very rare genetic disease that predominately affected people in Donegal. This poor man below in Cork, due to his genetic history, was unfortunately diagnosed with it. That is how I became involved with it. We lobbied for a drug called patisiran at the time and we were successful in that. However, as I said at the start, I think it is dehumanising, whether it is amyloidosis, Friedreich's ataxia or Duchenne muscular dystrophy. It is dehumanising that we put people on that platform. I call it Groundhog Day. As I said to the Minister's colleague Deputy Aird when he first approached me about a constituent of his, this is just going to be repeated. All of the eggs are in the basket of this review. When this review is done, it will probably be the last attempt at a review for the next five or ten years. I really do hope it is meaningful and thorough. I will leave it on a positive note. I complimented the Minister at the start. She has gone above and beyond. She has met people privately in a personal capacity. She has met the families who are at the core of it. She said that the whole thing here is to provide hope. I know she has children. I also have children. Most people in this Chamber today have children. I always put myself in the position of their parents when they are fighting for these medicines and treatments. We would do anything for our children. Everybody in here would. We cannot blame the parents who are involved in these campaigns for doing the same. All the eggs are in the basket of this review. I hope there will be a positive outcome in the next six to nine months that gives people real hope.

I have spoken to the Minister about Paudie Coady. He is 16 years old and has been diagnosed with Friedreich's ataxia. His brother passed away from the same condition last year. It is a terminal condition. It is unbelievable that his father, Craig, has buried one son, has another son who is dying and that his wife is now in care because she has Huntington's disease. I cannot even get my mind around the tragedy facing this family. I know why Craig gets up every day. He gets up every day because he wants to do his very best for Paudie and for his wife. There is now a drug that can reduce Paudie's symptoms, give him a longer life and improve his quality of life. I have spoken to the Minister and to the Taoiseach and other people have raised this issue in here in respect of different people. Paudie can walk for about ten minutes. He can go to school and can just about go on a holiday. He can do a few things. He is looking at his friends growing into big strong men while he declines. Paudie should be given access to the drug Skyclarys under the compassionate access programme. We know this drug would have a huge positive effect on Paudie's quality of life. I know the Minister is a compassionate woman. She is a compassionate Minister. We need to make this drug available to Paudie on an exceptional basis. The Minister has the power to do this. It has happened in other European countries. Will the Minister talk to the Department about approving the drug under the compassionate access programme to give Paudie a longer life and a better quality of life? I know we are all going to die but this child is going to die and there is a drug that could really help. I spoke to Craig, Paudie's father, a while ago. He feels that those in the Government who have met with him have been genuinely sympathetic and supportive. I do not want to dismiss that here. I do not want to make politics of this. However, at the end of the day, the Minister has this ability under the compassionate access programme. No family or child should be denied hope because of money issues. I sincerely ask the Minister to consider this.

It is important to say that I do not have that power.

The Minister says that she does not have that power. She can address the issue later.

The power is there.

I welcome this opportunity to speak on rare diseases. I spoke on the issue in the previous Dáil. I do not think I have spoken about it in the current Dáil. It has been said many times that, although rare diseases are classified as rare, we all probably know somebody who has one because one in 17 people in the country, a total of 300,000 people, have a rare disease. It is a very difficult issue to talk about. The system to approve medicines in this country has been poor. It has resulted in medicines that are available to sufferers of rare diseases under the public system in other countries, including some medicines I will discuss in a few moments and that others have already mentioned, taking longer to get to the people who need them in Ireland. I know the Minister and her predecessor have worked to change that. We need to make progress to expedite the system and to ensure that we get the best drugs in the world into treatment programmes for people in this country who have rare diseases. I take this opportunity praise the families of those children living with Duchenne muscular dystrophy. Their tenacity in fighting for their children is unbelievably admirable and we are glad to have met so many of them in recent years. I acknowledge the work of Senator Teresa Costello and my colleague Deputy Pádraig O'Sullivan, who has been steadfast in his work and advocacy for sufferers during all his time in the Dáil. I will also mention the former TD, Denis Naughten, who did a great deal of work over many years. I am so glad for those children living with DMD that the HSE drugs group has recommended reimbursement. It is now imperative that those children get access to this drug as soon as is practicable. At the core of this fight was the sheer length of time it took for this medicine to be considered and to go through the assessment process for reimbursement following EMA approval. I am sure that all of us in this House, including the Minister, agree that the process needs to be reformed. Our health spokesperson, Deputy Marie Sherlock, wrote to the Minister more than a year ago about access to this medicine. While it might have been given approval faster than other medicines, it was still too slow, taking far beyond 180 days. This is especially so as it had been made clear that these children simply did not have time on their side. As a result, some young people living with DMD will unfortunately not be able to benefit from this very welcome decision. It would be good to hear from the Minister and the HSE senior leadership team as when the drug will be formally approved - that may have been done; I am not sure of the timelines - and when these families can expect this medicine. I will raise, as others have, Skyclarys and the treatment of Friedreich's ataxia, a rare neurodegenerative disorder that progresses very quickly, resulting in neurological decline, the loss of bodily function, mobility and independence, and ultimately death. Approximately 200 people in Ireland have Friedreich's ataxia. I know the Minister met some of them earlier this year. Skyclarys is the only approved treatment for this condition. It was approved by the EMA in February 2024 and is available in many states across the EU. As yet, it is not publicly available in Ireland. An application was lodged here in August 2024. A constituent of my colleague Deputy Sherlock has told us that she and others are losing hope. People she knows have lost the ability to stand upright, to walk, to feed and dress themselves and to speak clearly. Just like those children with DMD, time is not on the side of those with Friedreich's ataxia. This person has said: I am not asking for special treatment - just the fair treatment that patients in Germany, Italy, and many other European countries already receive. Please help to ensure that the "National Rare Disease Strategy" becomes a reality for those of us who cannot afford to wait any longer and, by doing so, provide access to this life-changing treatment. The HSE drugs group needs to consider this medicine with the utmost urgency. The reality that Irish patients cannot access many novel and innovative medicines that other citizens across the EU can is a let-down coming into our EU Presidency. We believe the EU Presidency presents a clear opportunity for the Minister and for Ireland with regard to the procurement of medicines, particularly orphan and innovative medicines. During the Covid pandemic, the EU proved how effective the collective procurement of treatments can be through its procurement of Covid vaccines. We must work to create a similar process for the procurement of medicines, particularly rare medicines, which can be costly for states with smaller populations to procure. It has been well flagged to the Minister and to many of us here that the value-for-money or quality-adjusted life-year assessment needs to be looked at given the small number of patients with rare diseases, where there are treatments. Many innovative medicines struggle to meet this threshold. This needs to change. I welcome the recent announcement of a review into the reimbursement process. I hope this will consider my point regarding the quality-adjusted life-year assessment. Rare disease patients can wait up to 722 days for decisions to be made on orphan medicines. This is far above the European average. I welcome the plan to a more structured approach of achieving a 180-day reimbursement decision. As the Marie Keating Foundation has stated, we must make the 180-day timeline a dependable standard as opposed to an aspiration. Ireland is now the only country in western Europe without a formal early access programme. We need to see the consideration and introduction of a compassionate early access programme. This is about recognising that for rare diseases, time is often not on the side of those with such diseases. In some cases, the earlier a medication is started, the more effective it can be in slowing illness progression down. The Minister has stated that she is working on this. We will support her in that regard. While prostate cancer is certainly not a rare disease, I want to raise once again issues with accessing innovative medicines, which is certainly an issue that also relates to rare diseases. It comes down to access. It is the case that access to private medical treatment here can, in turn, grant access to medicines that one cannot get in the public system. The Minister will agree that this is utterly unfair. We accept the need for value for money, but we must demand equitable access to treatments. I reference Pluvicto, which is a medicine to treat men with metastasized prostate cancer. This is a matter I have previously raised with the Minister. The drug is not reimbursed by the HSE, yet a patient in, for example, the Mater Private Hospital can get access to it. The inequity is unacceptable. I ask that the Minister might at some stage provide an update on the HSE's engagement with the manufacturer in relation to this medicine. In the context of other issues that we raise in the Dáil, we sometimes can get a sense that a Minister or the Government do not quite get the issue or understand it. I do not think that is the case with rare diseases. The Minister and the Government understand the issue and the difficulties relating to it and are aware of what needs to be done. She will have our support if we are moving in the right direction. I hope that we do so. I hope that we can get the 180 days. I hope that people, especially children, with rare disease can get access to various novel medications that have been approved elsewhere as soon as possible. I hope that we do not have to have statements on rare diseases too often and that we can move forward.

Fourteen years ago in June 2012, the first meeting was held with the then Minister for Health, James Reilly, in Farmleigh House, when a whole lot of people involved in the area of rare diseases, including parents and different lobby groups, were brought together. That was the first that a serious effort was made to get everyone together in order to see how we could plan forward to deal with the many rare diseases that are there. Rare diseases may be individually uncommon but, together, they affect 300,000 people and their families across Ireland. Behind every diagnosis is a child, parent, carer or an adult who is living with a condition that often requires specialist treatment, ongoing support and access to innovative medicines. The publication of Ireland's National Rare Disease Strategy 2025-2030 was an important step forward. The strategy provides a roadmap for more integrated person-centred care and recognises the unique challenges faced by those living with rare diseases. However, for many families, progress on paper has yet to translate into improvements in daily life. Recent findings from Rare Diseases Ireland are concerning. Four in ten respondents reported poor access to healthcare services. More than 40% rated their physical health as poor, while over one third reported poor mental well-being. Nearly four in ten families described their financial situation as poor due to medical costs, travel expenses and reduced income arising from their condition. More strikingly, only a small minority expressed optimism that the new strategy will improve their quality of life. One area requiring urgent attention is access to orphan medicines. Currently, patients in Ireland wait, on average, more than 800 days between a medicine receiving market authorisation and becoming available to patients. This places Ireland among the poorest performers in the European Union and well behind the EU average. In 2018, I was involved in the health committee as regards producing a report on how we could speed up access to medicines. That report that has not been acted on. It is disappointing that some of the proposals set out in the report have not been followed through on. We must continue efforts to improve assessment processes, pricing negotiations and reimbursement pathways in order that effective treatments can reach patients more quickly. However, while these reforms are being pursued, we cannot ignore the immediate pressures facing families today. The National Rare Disease Strategy 2025-2030 rightly recognises that the costs associated with rare disease diagnosis should be considered in medical card assessments. It also highlights the need for integrated care pathways, co-ordinated community supports, special services, respite care, psychological supports and smoother transitions from childhood to adult healthcare. These commitments must now be implemented with urgency. Families should not have to wait years for access to treatment while also struggling with financial hardship, travel costs and fragmented services. Our responsibility is not only to improve access to orphan medicines but also to ensure that every person living with a rare disease receives the support they need to live with dignity and security. The strategy provides the framework; we must now deliver on the action. Going back to 2012, I was one of the only Oireachtas Members at the event in Farmleigh House. While a lot of progress has been made in 14 years, we need to expedite that progress in the next three to four years. We have medication in a lot of cases, but what is needed is access. It is important that we improve the process for making sure that the medication is available in a timely matter. I ask the Minister and the Department give priority to that matter. A lot of progress has been made. We need to make a lot more, but in a shorter timeframe.

I very much welcome the opportunity to speak on rare diseases. An estimated 300,000 people in Ireland are living with rare diseases. For their families, the challenges are absolutely immense. Too many face long waits for diagnosis, fragmented care and difficulties accessing treatments that could significantly improve or extend their lives. While each rare disease may affect a small number of people, collectively, rare diseases affect one in 17 people in this country. This is not a niche issue; it is a national issue. The Oireachtas and the Government need to work together to make sure that there is a national response. I welcome the National Rare Disease Strategy 2025-2030 and the commitment to improving diagnosis, care, research and access to medicines. Strategies alone do not change lives, however. Patients need to see real and tangible improvements. One of the greatest frustrations for patients is that scientific advances are moving faster than our ability to deliver such advances to the people who need them. Ireland is a global leader in pharmaceutical innovation. We manufacture some of the most advance medicines in the world. We are rightly proud of the jobs this creates, the investment it attracts and the contribution the sector makes to our economy. There is a desperate contradiction at the heart of our system that we cannot continue to ignore. The medicines are developed here. The innovations happen here. Our researchers, scientists and healthcare professionals are helping to drive breakthroughs that are changing lives across the world. Our economy benefits enormously from that innovation. Too often, however, Irish patients are upon the last to benefit. We have seen this recently in the context of heartbreaking battles to get people care and treatment. The drugs highlighted in the media recently are givinostat and Skyclarys. I congratulate my colleagues Deputy Pádraig O'Sullivan and Senator Teresa Costello on the strong and diligent work that they have done in relation to these two drugs. Thankfully, givinostat has been approved but people with Friedreich's ataxia are waiting for Skyclarys to be approved. This inequity is to be found across the entire healthcare sector, including in the areas of rare diseases and cancer. We have effectively developed a two-tier system where access to innovative medicines can depend on whether a person has private health insurance or on their ability to pay. Patients who are treated privately can often access new therapies far sooner than those who rely on the public health service. That is not equity. It is not what Sláintecare promised. It is not what the Irish healthcare system should be. Healthcare should be based on need rather than income. The chance of accessing a life-changing treatment for cancer, for example, or, indeed, a rare disease should never depend on a person's financial circumstances. That is why an early access programme for innovative medicines is essential. Patients with rare diseases and cancer should not have to wait for years to access treatments that have already demonstrated significant benefit elsewhere. We also need a greater and more sustainable budget for new and innovative medicines. Investment in these therapies is not simply a cost, it is an investment in better outcomes, longer lives and better quality of life. We must strengthen our commitment to clinical trials and research. I met Cancer Trials Ireland recently and heard how clinical trials are not only improving patient outcomes but also saving the State millions. They provide patients with access to cutting-edge treatment and help to build a stronger and more innovative health service. For patients living with rare diseases and cancer, every day matters and every delay is excruciating. Our responsibility is to ensure innovation does not stop at the laboratory door or the factory gate; it must reach the patient. It is a standard our healthcare system should be judged by and the standard our patients deserve.

I welcome the opportunity to speak today. An estimated 300,000 people in Ireland live with a rare disease. Too often, they are faced with years of uncertainty, navigating a fragmented system. This must change. The national rare disease strategy is welcome and provides a framework but it must be properly funded and implemented. It promises integrated life-course care pathways, expanded newborn screening and wraparound supports. To deliver this, the Government must deliver the necessary funding. The development of diagnostic, critical specialist and general multidisciplinary capacity must be a priority. It is still the case that access to life-changing drugs is far too slow. Government must deliver on its own commitments in the programme for Government. I welcome the Minister's commitment to a review and the additional capacity in the system. A tracking system was committed to which must be delivered on. Importantly, there is a commitment in the programme for Government to try to ensure early access. Government must ensure early access happens. I acknowledge the pilot but while pilots are something, they are by their very nature exclusive. I noted the Minister's comments early on Skyclarys for Friedreich's ataxia. She has to know time is of the essence and every day counts. It is similar for boys with Duchenne muscular dystrophy. I welcome recent developments with respect to accessing givinostat but I implore the Minister and the Government to maintain momentum until every child who would benefit from that drug has access to it. We must also ensure the drugs reimbursement system is fair, transparent, accountable and commands public confidence. That is why I am proud Sinn Féin Healthcare (Transparent Payments) Bill 2022 which I cosponsored with colleagues will go to Second Stage next week. This Bill is about ensuring integrity in our health service. It will require pharmaceutical companies to declare all payments and transfers of value to healthcare professionals and organisations, ending the current inadequate voluntary system and bringing Ireland in line with international best practice. An estimated 300,000 people are waiting for action. They need timely diagnoses, access to medicines and a system they can trust. We must deliver for them.

I express solidarity with the many people and many children suffering from rare diseases in Ireland. I pay tribute to the many who have to speak out publicly about what they and their families are going through to bring pressure on the Government to approve various medicines, people like Archie Ennis and A.J. Slevin. There are far too many and we should not have to know about their stories. It speaks to something very wrong in how our society, the economy and the pharmaceutical sector are organised. I recently read about research done in France which showed the majority of new medicines developed offer no therapeutic benefit or advancement and about 25% represent real therapeutic advancements. In the vast majority of research, money is going into marketing, research into products with massive markets already and therefore they are just variations on drugs to keep patents ongoing. There is very little in prioritising people's needs and rare diseases. Where there are developments, pharmaceutical companies are holding out to get as much money as they possibly can for them. We need a very different sort of pharmaceutical sector in public ownership in the public interest. I welcome the recommendation of the HSE drug group to approve givinostat for Duchenne muscular dystrophy. I add a request for children like A.J. who will not be of an age to benefit from it - I think you need to be six - that support is given in the meantime - for example, support from the HSE with splints to ensure their muscles do not get weaker while waiting for access. I hope access is granted for whoever needs it as soon possible. On Friedreich's ataxia Skyclarys is the only drug that has been shown to slow the disease. It was approved by the EMA and is available in other European countries. I will quote from a constituent: The NCPE issued a harsh verdict for Skyclarys on 17 December 2025. While I understand the HSE is still in discussions with the manufacturer, the delay is costing my niece time to slow this cruel disease. It is already heartbreaking watching her fade even though a drug that works exists but is out of reach. In the 570 plus days since the application for its use in Ireland was lodged, many in the community have lost the ability to stand upright, walk, feed or dress themselves and to speak clearly. Many have lost all hope. Time is ticking. We need urgent movement on Skyclarys and the other orphan drugs that have not been approved in our system.

I add to the calls for the availability of treatments for Friedreich's ataxia and Duchenne muscular dystrophy and to recognise the very brave patients and their advocates who have made this case in Leinster House. Skyclarys is the first and only approved treatment for Friedreich's ataxia which around 200 people live with in Ireland. This medication can slow the progression of their condition. The company that makes Skyclarys has put the official pricing proposal to the CPU and now the situation is fully in the hands of the HSE. Patients do not know how long it will take for the HSE to make its final decision. On 26 May, I asked the Minister for Health for a definitive timeline on consideration of Skyclarys for reimbursement. Many patients and their advocates were really upset when it became apparent Skyclarys was not discussed at the 10 June meeting of the HSE's corporate pharmaceutical unit. It is important this process is completed as quickly as possible. I ask the Minister to do all she can to ensure Skyclarys is included on the agenda of the August meeting of the CPU. I would also like to raise the approval of givinostat for people suffering with Duchenne muscular dystrophy. I have raised it as have others on several occasions with the Minister for Health since EMA approval was granted last year. Last week the HSE recommended the drug for approval. This week the SLT signed off on this, bringing children with Duchenne closer to accessing this medication in Ireland. The Minister said the timeline for children getting this medication will depend on supply and the final approval steps. I urge her to use all possible influence to speed up this process so that children who desperately need this medication can avail of it. The approval of this treatment is welcome but it should not have taken this level of concerted lobbying by parents and patients to achieve. The Minister says decisions around pricing are not made by her personally and they are rightly in the hands of experts. That is the right approach but the issue is not with the making of the decision, it is the process, the time it takes and a system that has become overly bureaucratised and needs to be streamlined. A review of that system is going on at the moment. That review is timely and I hope we get the result quickly. I hope we get the changes that are necessary made to the system of reviewing approvals for these orphan drugs because patients and their families deserve better.

I recall in the Dáil about a decade ago when Leo Varadkar was the Minister for Health. He said that he would almost become a socialist when it comes to the issue of the drug companies and the health industry. It did not quite work, obviously. Here we are again asking why it is taking so long for drugs to be approved in this country. These are drugs that we know are having life-saving impacts. We are a small country so, in some ways, a rare disease in a small country is even more difficult. Cystic fibrosis is very common in Ireland, yet that took ages as well. I echo the calls for the treatments for Friedreich's ataxia and Duchenne muscular dystrophy, DMD, to be approved as quickly as possible. I spoke on that issue a year ago in the Dáil. Families are going through heartbreak. DMD in particular is a progressive disease. I read that givinostat has now been approved. I am asking the Minister of State to ensure that this is moved as quickly as possible so that givinostat benefits as many as possible. I want to mention a case that was brought to my attention of a young woman, called Debbie, who has been diagnosed with an aggressive brain tumour, a WHO grade 4 glioblastoma. As the House can imagine, she has undergone extensive neurosurgery removing huge parts of her brain, as well as radiotherapy and chemotherapy. The problem is this. There is a revolutionary second-line treatment available called dendritic cell therapy, DCT, available in Germany. It has been overwhelmingly positive in its results in the first few years at trial stage. Debbie has comprehensive health insurance but this therapy is not available on VHI anyway. It should be available to all, of course, but I just cite the fact that insurance companies are not providing insurance cover for many conditions. This results in families having to do GoFundMe to raise money to go abroad, all when people are in such dire health situations. The family in question have done so and have had to raise huge amounts of money. This is treatment inequality. Cutting-edge treatments like DCT are available in other European countries but are not available in Ireland despite the fact that a lot of the pharmaceuticals in question are manufactured in this country up the road from where I live. There are also health insurance barriers and systemic delays. Even basic administrative requirements such as requesting medical records to go to another country add up with regard to people's life expectancy and quality of life. The system is failing people like Debbie and we need to act to make that treatment available.

The terrible thing about this subject is that it comes down so much to economics and it should not. It should come down to individuals and everything that we can do for them. I want to echo what many speakers have said in this debate about how we need to accelerate the progress in relation to the provision of treatments for rare diseases. The fact that they are rare diseases should not mean that people do not have access to the treatments they need. I have listened to some of the comments on how we need to have a pharma industry that works for the people. While that is laudable and entirely appropriate, we also have to be mindful that the money spent on research and development comes from private investors, and much of it essentially comes to nothing. The hope is that researchers strike upon some drug or treatment that actually solves a problem and, therefore, is marketable, saleable and profitable. If we had a situation where we were spending public money on research and development for pharma companies, the public would rightly be outraged by the amount of money that was spent on programmes that simply came to nothing in the end. Let us not be naive about this. We need private investment and we need the pharma companies, which are expert at this whereas the State is not, to innovate in this space and develop the very treatments that we are relying on them to create, patent and market to solve problems. There is, however, a legitimate criticism to be made of certain pharma companies. We have individual markets on drugs throughout the European Union and I understand why that is. Since Ireland is a small market, it is not going to be as profitable for a large multinational pharmaceutical company to make the application to have the drugs included in the payment scheme and all the rest of it in this jurisdiction, because there are fewer people here who are going to consume the drug than in somewhere like France, Germany or Italy. That is a particular shame and it reflects very poorly on the pharmaceutical companies that they do not do this. Duchenne muscular dystrophy has been mentioned today. It is a case where the application has been made. I raised the issue this morning with the Minister for Health. My understanding was that she was waiting for the application to be made. It has now been made and we hope it will be accelerated. It is a case where time is very much against people who are suffering from Duchenne muscular dystrophy and we need to provide that treatment as soon as possible. Another example is eosinophilic esophagitis, EoE, which is a chronic, allergic inflammatory disease of the esophagus from which people suffer and that can be treated by a particular drug produced by Sanofi. Some 50% of its global production is in Waterford, yet that drug is not available for treatment of juveniles in this jurisdiction. My understanding of the reason it is not available is quite simply that Sanofi has not made the application. There might be really good reasons for that and if there are, then let us have them out, but my concern is that because Ireland is a smaller market for these drugs, it disincentivises the company from making what is presumably a costlier application from the point of view putting together material than it might be in another country. For dealing with rare diseases in the longer term, perhaps we should be looking at a single European Union market for these things, which would be a single EU authorisation or application market so that we no longer suffered from being the smaller market within the European Union. We could tell drug companies to apply to the European Union and then they would get to run their drugs in Ireland and get to avail of the schemes in Ireland. In that way, we would solve this problem.

I join with other speakers in highlighting the issue of rare diseases. In particular, I want to speak about a condition affecting a small number of people in Ireland, which is SMA, a genetic disorder that affects motor neurons in the spinal cord, leading to progressive muscular weaknesses, loss of function and even shortened life expectancy. For many years, families affected by SMA lived with little hope of effective treatment. Thankfully, however, breakthroughs in research mean that there are therapies available today that can dramatically improve the quality of life for many patients. Ireland can be proud of the progress that has been made. The State has agreed reimbursement for innovative SMA treatments for children and young people. These decisions have transformed lives, and this is something we should acknowledge and commend. However, there remains a small group of adults with SMA who have been denied treatment because their dates of birth do not comply with the chosen cut-off date. Approximately 16 adults in Ireland with SMA are currently excluded from reimbursement of treatments that are available to younger patients. Through no fault of their own, they miss an opportunity afforded to those who came after them. As a result, we have a situation where two people with the same condition are treated very differently. A patient diagnosed as a child will continue to receive the treatment into adulthood but another adult with the same diagnosis and the same clinical need may be unable to access reimbursement at all. That is unjust and inequitable. It discriminates against this small group of people because of their age. I appreciate fully that decisions on reimbursement must be evidence based, clinically informed and financially responsible but I ask that, alongside the necessary procedures, we apply a degree of joined-up thinking, practicality and humanity. We need to think outside the box for this small group of adults. Their lives could be improved by treatments that are already recognised, licensed and reimbursed elsewhere for others with SMA in this country. When this group of adults looks to Europe and sees other adults with SMA accessing therapies, and when they look to Northern Ireland and across the Irish Sea where similar patients are receiving treatment, and when they see younger Irish patients benefiting from these medicines, is it any wonder that they feel frustrated, excluded and let down? Rare disease policy requires us to think differently. One size does not fit all. Traditional health technology assessment models are designed around larger patient populations. Rare diseases do not fit neatly into these frameworks. This is why flexibility and innovation are practically essential. I ask that every effort be made to explore practical solutions for this exceptionally small group of patients through management access arrangements, conditional reimbursement measures, special rare disease pathways and other approaches. There is scope for constructive engagement that balances fiscal responsibility and compassion. Our national rare disease strategy recognises that people living with rare disease face many barriers. These 16 adults are experiencing a unique barrier - their age. I know the Minister is committed to improving outcomes for those living with rare diseases. I know that significant work is underway with the Department-----

The Deputy's time is up.

----- and I ask that special attention be given to this group-----

The Deputy is eating into other Members' time.

-----and that the Minister engages further with EMA Ireland.

First, I want to pay tribute to the parents and families of young boys with Duchenne muscular dystrophy who have campaigned for access to givinostat. I commend them for their work, and I also acknowledge the work of colleagues in this House, such as Senators Teresa Costello and Anne Rabbitte, and Deputy Pádraig O'Sullivan, for their work in driving this from a parliamentary perspective. I also acknowledge the Taoiseach and the Minister for Health for their engagement as well. Many people in the House today have already spoken about the positive news that we got regarding givinostat. However, we are still waiting for that good news when it comes to skyclarys in relation to Friedreich's ataxia. This something that the Government and the HSE must prioritise, particularly its corporate pharmaceutical unit because, as other Deputies have said, time is something that these families do not have in abundance, and we need to ensure that these types of medications are in the hands of families to ensure that they can limit the impacts of these particular rare diseases. One thing that frustrates most people is the process and the time that it takes. We welcome the review into how rare diseases are dealt with. Deputy Barry Ward has already spoken about the need for a single European market when it comes to accessing drugs for rare diseases, and it is something that I was going to speak about. It makes sense. We are a small nation with a population of just over 5 million people and a small market to these pharmaceutical companies, but when we combine that with all of Europe, particularly when a lot of these drugs are being approved from European bases, we need to use that strength in numbers to ensure the access for people with these rare diseases. There is a bigger issue in Ireland when it comes to access to drugs. The long-term illness scheme has not been updated since the 1970s. I appreciate the costs that are involved in this, however, if we look at permanent anaphylaxis, for example, young children and adults who need access to EpiPens cannot get them. This is something that we really need to review, particularly when it comes to long-term illnesses. We need to review how people with rare diseases, and people with diseases that are not that rare, access drugs in this country.

I want to pick up on a point made by Deputy Ward. He is right that an awful lot of these decisions come down to economics, and that is not the way it should be. There are clearly medicines that not only can make a profound impact on people's quality of life but can actually save lives. Of course, there has to be a system and decisions have to be made in an appropriate way, but that cuts very little mustard with someone like Craig Coady, who has lost a child through Friedreich's ataxia, and is now worried about his other child. It cuts very little mustard with a parent of a child who has Duchenne muscular dystrophy and who is watching their son's functions, muscular abilities, strength and ability to live their life to the greatest level possible go further and further from them. The key point is that there has to be processes, but they have to be efficient, quick and responsive, and in our view that is not the case at this moment in time. In the first instance, I welcome the fact that there is now a rare disease strategy. The implementation of it will be key, but there are a number of key points that Ireland is falling down on. First, in relation to orphan medicines, in the instance of the 5% of rare diseases that benefit from an orphan medicine, where treatments exist, access is delayed. The State is an outlier when it comes to early access. There is no early access scheme for rare diseases. That should be happening. Rare Diseases Ireland has made the call that it should happen within one year of EMA authorisation. That is the case already, for example, with givinostat, which will benefit those with Duchenne muscular dystrophy. It has already been approved by the EMA, but it has been quite delayed getting through the system here. It is also the case that the reimbursement system is not designed for rare diseases. This is not a contradiction, but sometimes when we talk about rare diseases, we think of it the wrong way. Each disease is rare in and off itself, but when we take them cumulatively, they are not rare. It is not unusual for someone in the population to have a rare disease. It affects quite a lot of people, but by the nature of each individual condition, which has a smaller evidence basis as patient populations are smaller, the reimbursement scheme is not working for them. Smaller numbers are affected and it is not designed for rare diseases and this needs to be addressed. I echo the point made in relation to the long-term illness scheme as well. There are instances, and I can send the Minister an example, where there are two people with the same disease with slight differences and one qualifies and one does not. That is not good enough either. The process clearly needs to be improved, but I welcome the progress made and I encourage the approval of givinostat and skyclarys.

Rare disease is an issue that affects thousands of families across Ireland, yet too often it receives far too little attention in this House. In particular, many patients face struggles gaining access to the medicines and treatments that could transform or even save their lives. The word "rare" can be misleading. When people hear the term “rare disease”, they imagine something that affects only a handful of people, but when we put all of these conditions together, the reality is very different. Today, around one in every 17 people in Ireland is living with a rare disease. That means hundreds of thousands of people across the country are affected in some way. Behind every statistic is a family. There is a child waiting for a diagnosis. There is a parent fighting to access treatment. There is a young adult wondering whether their condition will deteriorate before a medicine becomes available, and there are families carrying enormous emotional, physical and financial burdens while having to navigate a healthcare system that is often difficult to access and even harder to understand. A treatment may exist. A medicine may already be approved elsewhere in Europe. Patients may know that the drug could help them, yet they can still face lengthy delays before that medicine becomes available in Ireland. I particularly want to acknowledge the families who have spent months and years fighting for access to givinostat for children living with Duchenne muscular dystrophy. The recent recommendation from the HSE drugs group to approve this treatment is very welcome news and a testament to the determination of parents who simply refused to accept that their children should be left waiting while the clock ticked on. These families have shown enormous courage and persistence. They have attended meetings, spoken to public representatives, told their stories in the media and campaigned relentlessly because they understood one simple truth — time is muscle. Every day matters when a child is living with Duchenne. I welcome the decision by the senior HSE leadership team to approve this treatment following intensive lobbying by Muscular Dystrophy Ireland, affected families and patient advocates. It shows what can be achieved when people come together and refuse to give up. We must now ensure that eligible children can access this medicine without delay and that the lessons learned from this campaign are applied to other rare disease treatments in the future. I am calling on the Minister to ensure that the managed access protocol is expedited for these families. Independent Ireland believes that every citizen should have access to healthcare based on need, not on where they live, who they know or how effectively they can campaign for attention. We believe that patients suffering from rare diseases deserve the same urgency and commitment from the State as patients with more common conditions. The publication of Ireland's national rare disease strategy was an important and welcome step. It recognises the need for earlier diagnosis, better care pathways, improved research, stronger patient involvement and improved access to orphan medicines, but strategies alone do not change lives. Implementation changes lives. Families do not need another glossy document sitting on a shelf. They need action, appointments, diagnostics and, where appropriate, they need timely access to treatment. The current system often evaluates these medicines using frameworks designed for large population treatments. As a result, patients can experience lengthy delays before decisions are made. Independent Ireland believes there is room for a more flexible and patient-centred approach. Our party believes that where a medicine has demonstrated clear clinical benefit and has received European regulatory approval, every effort should be made to ensure that Irish patients are not left waiting unnecessarily while administrative processes continue. Independent Ireland has consistently argued that public services should be built around the needs of citizens rather than bureaucracy. The healthcare system is no different. The needs of patients and families must come first. Recent agreements aimed at accelerating access to new medicines are welcome. However, the true test will not be what is written in an agreement; but whether patients and families notice a difference in their everyday lives. Can a child receive treatment sooner? Can a family avoid travelling abroad? Can a patient access a medicine before irreversible damage occurs? Those are the questions that matter. Independent Ireland has consistently highlighted the challenges faced by families living outside major urban centres. Many rare disease patients must travel repeatedly to Dublin and to specialist centres for consultations, diagnostics and treatment. The financial burden, the time away from work and school and the emotional strain this places on families can be enormous. We need faster diagnostic pathways. We need improved support services for families. We need better regional access to specialist care wherever possible. We need a medicines approval system that recognises the particular challenges associated with rare diseases. More importantly, we need to listen to patients. Nobody understands the shortcomings of the system better than those who live with these conditions every day. Their voices must be at the centre of decision-making. A society is often judged by how it treats those who are most vulnerable. Families affected by rare diseases have shown extraordinary resilience, courage and determination. They should not have to spend years fighting for recognition, they should not have to spend years fighting for treatment and they certainly should not have to spend years fighting bureaucracy while their conditions deteriorate. Our job in this House is to ensure that hope is matched by action. That is what fairness demands. That is what compassion requires. That is what Independent Ireland believes should be delivered. I wish to ask the Minister of State about Friedreich's ataxia and the medication Skyclarys. Where are we in relation to getting patients access to Skyclarys? The brother of Emma O'Shea in west Cork died from this disease. I met a group of young people who were here in Leinster House a few weeks ago. One was a young lady who was devastated by what the disease was doing to her. Every second without Skyclarys medication is a death sentence. I ask the Minister of State, how can we in opposition help the Government? We are not here to blame the Government, but how can we help? Surely if one of our children needed Skyclarys, we would find a way. I ask the Minister of State to please tell me how we can help. In his summing up, he might let me know where developments with regard to Skyclarys are. I have been in contact personally with Emma O'Shea continuously, even just up to a few minutes ago. She is struggling greatly and wants to know when there will be an announcement. I am not here to point fingers; I am just here to plead on behalf of that lady and other people who need Skyclarys. I would really appreciate when the Minister of State is summing up if he could give us some guideline. There was talk it might be announced last week - that did not happen - and that it could be announced next month. If it is, we would be absolutely overjoyed. This is a life-and-death issue. If Emma lost her brother, it is quite possible she could lose her own life. She is determined to fight on. There was a very strong piece in the Southern Star today about Emma and what she was suffering and going through. I would really appreciate if the Minister of State would give us some idea as to where the process is and whether there is a possibility in that regard. It might be clearer next month. If it is, it will certainly lead to saving Emma's life and the lives of many more out there.

I want to speak on behalf of families and patients with Friedreich's ataxia and muscular dystrophy. I want to speak particularly for Eric Fitzgerald, a young man from Ballyhaunis, in County Mayo, who is losing power and muscle and whose lower limbs have weakened significantly. His condition is getting progressively worse. For Eric, the passage of time means the loss of muscle. It is extraordinarily sad. I met a group of young people with Friedreich's ataxia last month. I met a wonderful young woman called Emily Felix. Emily's story is again exceptionally sad. Emily has started recording her voice because she is losing her voice and losing muscle. That tells you how painful this disease is. There is some hope, however, and that hope is in the form of the medication Skyclarys. It was approved by the European Medicines Agency in 2024. While it is not a full cure, the clinical guidelines show that it will reduce the progression of the disease by half for some patients. For many patients, that is the difference between living and surviving. It would have an immense impact on these young people's lives. I know there is a very important meeting coming up in August. Many families across Ireland are clinging on to hope. I ask the Minister of State to make sure that the voices of these families are heard in that CPU meeting and I ask him to update this House as soon as possible.

I welcome the opportunity to speak on this important issue. While some conditions are more widely known than others, both common and rare diseases have far-reaching impacts across our society. In recent times, awareness and advocacy campaigns have brought these issues to the forefront of public and political discourse. We have seen this through initiatives such as the FTD brothers' campaign raising awareness of dementia and through the courageous efforts of families affected by Friedreich's ataxia who have spoken publicly about the urgent need for medical intervention. In my home county, there are a number of families living with Friedreich's ataxia. I think particularly of Liam and Kiara Lynch and Theresa Kane and her two young children. For those who are unfamiliar with this disease, it is a rare, inherited neurodegenerative disorder that can cause progressive damage to the nervous system and the heart. There is a treatment that has the potential to slow the progression of this and it offers life-changing benefits and, crucially, more time for those living with the condition. Approximately 200 people and their families are affected by Friedreich's ataxia in Ireland, and ensuring early access to this treatment would make a meaningful difference to each of them. This issue highlights the broader challenges around access to innovative medicines for rare diseases. We must adopt a more responsive and flexible approach in Ireland to ensure that patients can access new, potentially life-altering treatments in a timely fashion. In recent weeks, I have met with Biogen, the producer of Skyclarys, on a number of occasions to urge efficiency and urgency in its negotiations with the HSE. I have also engaged with the HSE and the Minister, Deputy Carroll MacNeill, to push as strongly as possible and to make sure that we get this drug, within the constraints of the proper negotiations that have to take place on behalf of the State. These discussions are progressing, albeit slowly, but we must examine our wider approach to rare diseases. A recent paper from the Alliance of Rare Disease Companies Ireland highlights the need for reform, noting that the current one-size-fits-all model for assessment and reimbursement is not fit for purpose. The programme for Government includes a commitment to review the drugs reimbursement process. However, it is essential that specific consideration be given to innovative and orphan medicines as part of this review. I have recently learned of the managed access approach, which is used in other countries such as France. This model allows patients to access new treatments immediately while data is gathered over a defined period. A formal review takes place, with negotiations continuing in parallel. It is a pragmatic solution that prioritises patients' care while ensuring robust evaluation. We need to be more innovative and flexible in how we approach access to medicines. There are critical conversations and they must continue if we are to ensure that patients receive the life-changing care they need when they need it. I would also support further research and development incentives for our pharma industry to do research into producing new drugs that may give an improved quality of life to our citizens and work in tandem with the managed access programme so that when these innovative drugs are developed, they are accessible and can be used by our citizens. I thank the Minister, Deputy Carroll MacNeill, for her engagement with me on this. It is important that we come to a conclusion shortly to make sure that our citizens and those who are suffering, particularly from Friedreich's ataxia, get the treatment they need to give them an extended quality of life.

I welcome the opportunity to contribute to these statements on rare diseases. I chair an ad hoc cross-party committee in the Oireachtas on the subject of rare diseases and have done for some time. My speaking time is very limited. To put it in context, one in 17 people in Ireland has a rare disease. In this Dáil Chamber, that would mean ten Members would have a rare disease. If we populate those ten around the seating in the Chamber it actually brings it to life and gives it reality. We all know someone and there are possibly colleagues who have rare diseases. As colleagues with whom I have been privileged to work will know, particularly Deputy Pádraig O'Sullivan who spoke earlier, I never put this on the record but have said to groups that when we are fighting for a cause that includes the word "rare" in terms of the disease, and "orphan" in terms of the drug, we know we are fighting an uphill battle. Any advocacy work that begins with those two words means being out on the extremes and the sidelines, fighting. My colleague, Deputy Dr. Martin Daly is here and he will know far more about this than I do. One of the ways I look at this is that we are learning much more about the recognised, mainstream diseases, as it were. Drugs are becoming much more targeted and there are more hybrid approaches to tackling many of the regular and everyday conditions that we meet. Where there would have been orphan drugs before, we have an awful lot more hybrid drugs that are born out of existing medications. I fully understand my colleagues mentioning specific conditions. I am reluctant to do so out of the knowledge, having dealt with some constituents over the last decade and beyond, that for every condition we mention here that is in need of assistance, there is probably someone sitting at home saying "what about my condition?" that is one of the 2,000-odd rare diseases. I commend the dynamism, innovation, creativity and research that is going on among the best of our pharma companies. We are very well placed here. I have often told the pharma companies that they really ought to be pushing their weight about a little bit more. Ireland depends hugely on them. We should have far more clinical trials here. It is an issue that the rare diseases group recognises. I commend the Minister on some of the work that has been done recently. Particularly, I welcome the commitment to establish a national rare disease registry and an implementation oversight group. They are some of the things that can be done. I will defer to my colleague, Deputy Dr. Martin Daly.

I acknowledge the families and people who live with rare diseases for their advocacy and their resilience. I am not going to go into individual diseases. It is welcome news, though, that givinostat has been approved. I pay particular tribute to the current Minister for Health, who has really taken on the issue around givinostat and is also looking at the reform of the accessibility for orphan drugs for people. I also pay tribute to Deputy Pádraig O'Sullivan, who has been at this for a number of years. It is sometimes a demoralising task. I commend also Senator Anne Rabbitte, and Senator Teresa Costello on her unstinting support for families who are living with boys with Duchenne dystrophy. I will just make a couple of points. We have to factor everything into these rare diseases. They are often chronic, progressive, debilitating diseases. We need to factor in the cost of care without the early intervention of these drugs. That is not to give an open chequebook to pharmaceutical firms that produce orphan drugs. While we are grateful that they take on the research and development of orphan drugs, by their nature they are exclusive to that condition, so they have a closed market and considerable leverage over states in terms of the cost of those drugs. Some of those drugs that are designated orphan drugs achieve wider applications and become very profitable for those companies, outside the rare disease piece. I think of drugs like rituximab and Avastin, some of which have applications in inflammatory diseases beyond the rare diseases, such as inflammatory arthritis and in the area of treatment of cancers. That needs to be balanced. We also need to understand that it cannot always be that the State has to just open the coffers. We have to balance it. There is a defined budget and we have to balance the needs of other people in the system. That is not taking away from the need to have a proper, efficient system of evaluation and bringing these drugs to patients who need them. As a small country, we lack the heft and leverage with these companies. We should be operating through the European Union to try to have better negotiating leverage. We need better-managed access to these drugs and early access schemes. We are not engaging properly in clinical trials, for a country that hosts so much pharma industry. That is a recurring theme. I would like to think that a ring-fenced fund could be achieved out of the tax revenues from some of the pharma companies, that would be designated for the treatment of rare diseases. At the end of this, I want to remember the people who are suffering from these diseases and the families who live with them. We cannot imagine unless we walk in their shoes.

I was really pleased to see this on the agenda. It is very important that we have this discussion in the Chamber today because it really matters. On orphan drugs and clinical trials, it is important to have that negotiation power for the leverage we need, and it is really important that we address this on an all-island basis and have an all-island system. We have been looking at this within the Good Friday Agreement as well in terms of an all-island national healthcare system. It is clearly coming through that were we to have an increased population for all of the island, it would make it much easier and much more efficient to have those clinical trials. It is important to note that going out from here today. I want to raise the urgent need for access to Skyclarys. It has been raised many times in the Chamber. I was watching on the screens. There are over 200 people living with Friedrich's ataxia in Ireland. For those diagnosed with this devastating rare condition, this drug represents far more than another medicine. It offers hope for slowing progression, preserving mobility and maintaining independence and giving families precious time together, yet many families in Mayo and across Ireland are forced to watch their loved ones deteriorate while waiting for the decision on funding through the HSE. Every month that passes means a loss of function that can never be regained. Time matters enormously for people with progressive degenerative conditions. Skyclarys was approved by the European Medicines Agency in February 2024 and is available to patients in the US, UK, France, Germany, Austria and other countries. Meanwhile, here in Ireland we continue to lag behind. We rank 23rd out of 27 EU countries for the speed at which we reimburse treatments for rare diseases. That is simply not good enough. Countless families in Mayo and many other places have contacted me directly, pleading for Skyclarys to be approved. One email came from a 32-year-old man who has lived with Friedrich's ataxia his whole life and has been in a wheelchair since he was 17. He and his family should not have to spend their days campaigning, fundraising and begging for access to medicine that could change the course of his illness. Friedrich's ataxia is only one example. Boys living with Duchenne muscular dystrophy who were waiting over a year for a decision regarding givinostat only received the positive news this week that this drug would be reimbursed. I certainly welcome that but there are so many families trapped in similar situations while bureaucratic processes drag on. We need an urgent decision on Skyclarys. Beyond that, we need fundamental reform of the entire medicines approval and reimbursement process. I am glad the Minister has started that but six months is a long time for some of these families.

I appreciate the opportunity to speak on this very important issue. I acknowledge all of the groups that have reached out to me and to my office. We all have a responsibility to do everything possible to ensure that all the people of Ireland can get the best treatments, medicines and supports available. I want to highlight specific conditions which have already been mentioned. Members of the Friedreich's ataxia group are still awaiting approval and access to a drug. There has been some movement on that, which I welcome. I welcome the opportunity to meet the group and the extraordinary individuals who are advocating, including Emily. The group travelled to Leinster House and successfully highlighted the unacceptable and prolonged wait they continue to endure. Emily put it very simply to me, namely that every delay has real consequences for her independence and function. That is why the opportunity to have this debate really matters. For these families, this is not simply an administrative process. Every week and month that passes can mean further deterioration in not only their physical health but also their mental health and quality of life. They want an opportunity to live independently as most young adults do. I welcome that the Minister and Taoiseach have engaged directly with the Italian manufacturer to encourage an application. I appreciate the response the Minister shared with my office on 27 May. I urge that every effort be made to progress this as quickly as possible because every time there is a delay in the treatment of a rare disease which is brought to the attention of the media or this House by successful campaigners, it shows that there is clearly a systematic error in how we deal with the new medicines and treatments that become available. I also want to highlight something multiple constituents have raised with me, namely Duchenne muscular dystrophy. I thank Stephanie for meeting me. It is a devastating and progressive condition but she was very strong and said she would be watching the debate. I want to welcome the positive recommendation from the HSE drug group. I thank it for the work that has been done on that. There is a lot more to be done and I will continue to engage with the Minister's office. I will always acknowledge when work has been done successfully. The former Minister for disabilities, Finian McGrath, got me into politics and worked tirelessly on the provision of a cystic fibrosis unit in Beaumont Hospital. I recently attended a meeting of Cystic Fibrosis Ireland and met service users and people currently attending treatment centres. A lot more can be done for those with cystic fibrosis. I welcome the 20-bed unit in Beaumont Hospital and the installation of other units. People with cystic fibrosis cannot be in close contact with others. There needs to be more public awareness of the difficulties facing those with cystic fibrosis and the other rare diseases mentioned by Members of the House today. I would encourage us to speak more about this issue. This is one of the first opportunities I have had since being elected to the House speak on this important issue. We, as legislators, have an obligation to make the lives of the people of Ireland better. I welcome the work the Minister of State has done with special education in my constituency. With regard to rare diseases, it needs more attention. When errors in the system pop up, they need to be dealt with as quickly as possible. We are not just dealing with a leak in a tap. Rare diseases affect people's lives and development. It is something that we need to fix.