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.

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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.

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