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.

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