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.

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That is just not true.

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It is available, since yesterday.

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That is just not true.

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

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