Dáil Éireann díospóireacht -
Wednesday, 6 Mar 2024

Vol. 1051 No. 1

Rare Diseases: Statements

Minister for Health (Deputy Stephen Donnelly)

I will be sharing my time with Deputy Pádraig O'Sullivan.

Rare diseases, as we know, are anything but rare. There are now more than 6,000 known rare diseases. One in 17 people in Ireland has a rare disease, which is 300,000 people. When you include the mums and dads, the brothers and sisters, and the sons and daughters who live with all of those people with a rare disease, it is likely that probably 1 million people in our country either have a rare disease or are living with someone who has a rare disease. To all of those people - the one in 17 with the rare disease, their families, friends and carers - I say that our ambition is to ensure people with rare diseases have rapid access to the best possible healthcare.

We are continuing to put in place and expand screening measures. We are investing in genetic testing. We are putting in place advanced diagnostics. We are continuing to invest in advanced treatments, including new medicines. I have listened very carefully to patients and families who are saying that while the investment and access to the new medicines is essential, much more than that is required. We must have suitable supports in people's homes and in their communities.

As Minister, I have met patients many times, and as recently as last week, for Rare Disease Day. I am very aware that these conditions can often have a severe and devastating impact first and foremost on the person with the disease, but also on their families and loved ones. That is why the Government has made a commitment for an increased focus on rare diseases and the people affected by them, and I will be making sure, as I am sure all of us in the Oireachtas will be, that we do so.

Through the development of a new national rare disease plan, the Government is delivering for patients with a rare disease. This was the task I set when I established the new rare disease policy unit in my Department, which liaises with the rare disease office in the HSE and relevant stakeholders.

In December, we established a rare disease steering group which, I am happy to report, has met four times to date. The group is tasked with developing our new rare disease plan. This sets out the vision for services and how we are going to support patients and families and the actions required to achieve this. I am determined the plan will be progressed, that it will look to the future and that it will put the patient at the centre of everything we do. The voices of patients, families and advocacy groups must be, and have been, central to the development of future policy. This is why I have established a patient forum so that we have a formal mechanism for listening very carefully to ensure the patient voice determines the investment, the direction and the services we put in place. I am very happy to say that the forum, which meets for the second time this week, is going to feed directly into the steering group, the strategy and the implementation plan.

As we all know, screening is an important tool in reducing the impact of rare diseases. I am very happy to say that our national screening advisory committee has already made two recommendations, one on severe combined immunodeficiency, SCID, and one on spinal muscular atrophy, SMA. I wrote to the committee about the prospects for metachromatic leukodystrophy, MLD. I acknowledge the advocacy of Les Martin and others on this. We are making progress but we have more to do on screening and we must set the ambition of being one of the leaders in Europe in screening. We have a way to go in this regard.

New medicines are essential to provide the best possible care for people with rare diseases. Over the lifetime of this Government, we have allocated new development funding of almost €100 million. The full-year cost of that is far in excess of the €100 million. This year, as colleagues will be aware, we have allocated €30 million. I am very happy to be able to share that the money to date, not including the €30 million for this year, has led to the reimbursement decisions and the authorisation of 148 new medicines and new uses. Critically, 39 of those medicines are orphan drugs, specifically for rare diseases.

The Government will continue to work with those who have rare diseases. I acknowledge the strong voices of people like Deputies Naughten, Devlin and Pádraig O'Sullivan and others on this important task.

Deputy Pádraig O'Sullivan

I thank the Minister for taking the time to be here. I also thank Deputy John Lahart who cannot be here today. He has given me some of his time, which I appreciate. The Minister will be glad to hear that I will start on a positive note by acknowledging the role he has played over the last few years in making progress on this issue. Much of this has been outlined by the Minister in his opening statement. The expansion of screening is a major bonus for those families. The Minister referred to Les Martin, who we both know well at this stage, and the other great advocates who have been involved on that side of things. I also acknowledge that the Minister has kick-started the rare disease plan and, hopefully, that will come through in the next couple months. I appreciate the fact the Minister started the process. With the publication of Mazars report we will now have the online tracker, which will be a welcome tool for people in terms of improving transparency for patients.

That being said, there are still some areas that cause me concern. In his opening remarks, the Minister mentioned about having rapid access to medicines. It has been noted in various medical journals published across Europe that Ireland is consistently at the tail end in a European context when it comes to the approval of drugs. I hate to focus all my time on drugs, but we are looking at delays here of up to 1,100 days, depending on the drug and on the process that it has gone through. I said to the Minister at the start of this Government's term in office that we were looking at three-year periods for approval of drugs to go through the health technology assessment, HTA, process. Unfortunately, we are still facing those kind of delays in the process. I hope the publication of Mazars report will improve things, but that is yet to be seen. I just want to re-emphasise this.

I note that recently in the Czech Republic bespoke legislation has been published that provides a specific orphan drugs pathway. We do not have that here. Perhaps something could be done either legislatively or outside of legislation that would give us a separate process to look at the rare drugs. A lot of oncology drugs are coming on the market and we need to look at how we can get those to patients as quickly as possible.

I told the Minister the story last week of why I spend so much time talking about drugs. I met a young girl here a couple weeks ago who came in to do a presentation with Debra Ireland. I got chatting to her mother and we took a photo together in front of the Dáil. They came here to give their life experience with the illness that the poor girl suffers from. I also dealt with the pharmaceutical companies that were there with them. They have not yet lodged their application for HTA. That girl spends four hours every morning wrapping up in bandages. Unfortunately, with our process, she will spend the next three or four years of her life going through that routine every day, in agony, because of how slow and laborious the system is.

I acknowledge what the Minister has done. For the first time in many years, we have a number of drugs and the Minister mentioned the specific number that has been approved. Until the Minister came into office, we did not have any for a period of time. I acknowledge that but the frequency of the meetings where drugs are approved needs to be looked at. I do not understand why we cannot have monthly meetings of the drugs group in order to approve drugs more quickly and get them pushed through that bit quicker.

It would be remiss of me not to mention the European reference networks, ERNs. To be fair, the Minister has met a number of consultants with Deputy Lahart and me about staffing and resourcing them appropriately to feed into the rare disease plan. With the screening that I hope will be expanded, we will need the data those guys right across the Continent have. Those networks need to be resourced appropriately.

Deputy Emer Higgins

Wait times for access to medicine for those with rare diseases is growing. The Alliance of Rare Disease Companies Ireland tells us that Ireland now ranks 31st out of 37 countries when it comes to waiting lists for approval of drugs. Patients are waiting for an average of 877 days for orphan medicinal products to be approved. That is more than two years of uncertainty for them. Six years ago, the Joint Committee on Health set about changing this. It called for a review of the evaluation and the reimbursement process for medicinal products intended for rare diseases. Since then, we have seen the Mazars implementation report , which looked at this, but where is the follow-up? These patients need mechanisms that allow for direct and urgent access to therapies and medicines for their rare diseases. We are talking about people's lives that can be transformed if they have access to the right treatment. How can we deny them this through long wait times?

Deputy Cormac Devlin

I welcome the opportunity to contribute to this debate on rare diseases. I would like to welcome the commitment by the Minister to enhance the care and treatment for the more than 300,000 people in Ireland living with rare diseases. Efforts to expand screening of newborns with the new heel prick test is particularly welcome. I know that the new national rare disease plan is being developed by the national rare disease steering group. This includes advocacy groups, medical practitioners, the HSE, and the Department of Health. I look forward to examining the plan and an engaging with stakeholders when the plan has been completed.

Finally, I would like to join with my colleagues and be associated with their remarks, particularly those made by Deputies Padraig O’Sullivan and Lahart. They have done much work to raise this issue in this Dáil term. They have been consistent advocates for it in this House. Deputy O'Sullivan referenced Debra Ireland and I also want to acknowledge the work of the Minister of State, Deputy Rabbitte, in relation to that organisation. It is important that we look at those challenges, particularly regarding infants. We look forward to the report of the working group.

Deputy Colm Burke

I was in Farmleigh ten years ago when the then Minister, James Reilly, started dealing with the issue of rare diseases. I am disappointed that we have made very little progress in real terms. While some progress has been made, it is not enough. I refer to the report by the Joint Committee on Health in 2018, which set out approximately 15 or 16 recommendations about access to drugs where rare diseases are concerned. It was published on 28 February 2018. I ask the Minister and the Department to go back and look at the report to see how we can fast-track the processing of drugs that are required for people with rare diseases.

The big challenge we now have is in relation to the pharmaceutical industry. Because Ireland is a small country in real terms, the number of people with a particular rare disease is always small, so we are not attractive to a company to come in and go through the process here when it has already been assessed by the European Medicines Agency. I ask that we review how we deal with this issue. How can we fast-track the process? How can we make the drugs available in a timely manner? Remember, the parents of these children have huge challenges in dealing with the complex conditions. Then, they find that they cannot get access to medication that is available in other jurisdictions. The homework was already done by the health committee back in 2018. Let us look at that again and see how we can fast-track the access to and the availability of the medication that people will require.

Deputy Pauline Tully

I welcome the preparation of a rare disease plan, but this should have been commenced long before now. The current plan is six years out of date, because the time period for its implementation was between 2014 and 2018. More than one third of people with rare diseases in Ireland have had to wait more than five years for a diagnosis.

Currently, in Ireland, only nine conditions are included in the newborn bloodspot screening programme, while many other countries screen up to 20 conditions. I am aware that approval for the inclusion of two more conditions, namely, SMA and SCID, has been given and this is welcome. Yet, waiting for years for diagnosis can be deadly for many people with severe forms of rare diseases, including SMA and SCID. These can both lead to death by the age of two, without early diagnosis and treatment.

An expansion of the newborn bloodspot screening programme should be commenced. However, HIQA has stated that it is not anticipated that screening for SMA and SCID will commence prior to the opening of the national children's hospital, which is now not projected to open until at least the second quarter of 2025, long after the Minister’s implementation deadline this year.

An average of six babies are born in Ireland every year with SMA and these babies cannot afford further delays to the implementation of screening. What steps are being taken by the Department of Health to ensure that newborn babies are screened for these conditions in this year, 2024, as committed to by the Minister, considering the fact that the new lab, which will be located in the new national children's hospital, will not be ready until at least the second quarter of 2025? What consideration has been given by the Department for an interim solution to screen newborn babies for these conditions in order to bridge the gap between this year and the opening of the new hospital?

Another rare disease I want to mention is epidermolysis bullosa, EB, which is a rare skin disease affecting approximately 300 people in Ireland. Those with the more severe form of EB endure excruciating pain daily. It is debilitating for all of those affected. Supports, such as an EB-specific bandaging and dressing materials scheme, mental health supports and home nursing care, would make a huge difference to those with the condition, as would mental health supports for the families who are supporting them. I believe this condition is not included in the long-term illness scheme either, and I ask why a life-long condition with no cure is not included. This is something that could be taken into consideration by the Minister.

Deputy Rose Conway-Walsh

I am happy to have the opportunity to speak again about the families that have been impacted by valproate. As the Minister knows, Epilim continued to be prescribed to pregnant women, even though there was growing evidence that children of those mothers were being born with fatal valproate spectrum, FVS, disorder. This was a man-made rare disease. It was a preventable disease. Several international reports have noted the devastating birth defects relating to sodium valproate.

The guide to rare diseases in Ireland states that FVS is:

a range of devastating birth defects that can occur from the side effects of taking an anti-epilepsy or other drugs which contain valproic acid during pregnancy. Despite studies dating back to the 1980s ... governments ... were slow to act on overwhelming evidence of the side effects ... Progress on addressing this issue is thanks to the advocacy of [families led by] one Irish parent, Karen Keeley. Thanks to Karen and the patient advocacy group she founded, the Organisation for Anticonvulsant Syndrome, OACS, Ireland, ... there are now considerably heightened warnings about the dangers.

The long-awaited promised inquiry has been far too slow. I understand that a chair for this inquiry is now sought. It is imperative that there are no further delays and that the inquiry is comprehensive, with the families impacted being put front and centre. These families, some of whom have a number of children and adults with that condition, have suffered enough. These families deserve the truth regarding what people knew, when they knew it, and why, when there was mounting evidence, no one shouted “Stop”. These families have been harmed. They have had to endure a rare disease that was totally preventable.

I want to thank the Minister for at least agreeing to an inquiry. I know he understands how important it is that the inquiry gets up and running as quickly as possible, and that we find a suitable chair who will get to the truth and the bottom of this matter and who will be able to address the situation.

Deputy Duncan Smith

Last week, I met with the Alliance of Rare Diseases Companies Ireland, which made one thing very clear: the current reimbursement system is not fit for purpose. We need a system that is clear, predictable and time-bound, with fixed assessment criteria and, most important, one that facilitates immediate or early access to rare disease therapies.

As the Minister mentioned in his own speech, it is a misnomer to call them “rare diseases”, because they are in fact not that rare, with one in 17 people in the country suffering from a rare disease. I welcome the fact that the Minister is developing an updated plan in relation to rare diseases, but we need urgency and we need to have this plan as soon as possible. The implementation of the national rare disease plan 2014-2018 was poor. There is no reason a new plan cannot be expedited with a focus initially on the recommendations of the original plan, which went unactioned. While a new plan is important and long overdue, we cannot have a situation again where we will have a list of recommendations that go unactioned. I ask the Minister to commit to implementing as many measures as possible within the lifetime of this Government, and not to push the work of this group or indeed its actions into the next Government.

I would also like to thank the Labour Party’s local representative for Skibbereen, Evie Nevin, who suffers from a rare disease. She took the time to share with me some of the difficulties experienced by people like her. She suffers from Ehlers-Danlos syndrome, EDS, an inherited disorder that affects connective tissue. She shared with me the issues she faces. One of the major issues for patients with EDS is a lack of multidisciplinary teams that can provide comprehensive and co-ordinated care. As a result, hundreds of families have resorted to fundraising for treatment in the UK, Spain and the US, collectively spending more than millions of euro to access specialist care and treatment. For example, Evie and her family have had to raise more than €20,000 to see doctors and physiotherapists in London. This is just not good enough. We have much too long a history in this country of exporting people with medical needs to receive care abroad. That should not be the case in any area, and it should not be the case for rare diseases. Evie outlines another challenge faced by patients with rare genetic diseases; while long waiting times are prominent across the health service, they face long waiting times for genetics appointments.

This has serious consequences for those with life-threatening conditions such as vascular EDS, which affects the blood vessels and organs and can cause them to rupture.

I would like to see 29 February, Rare Diseases Day, to be a springboard from which we begin to address the flaws in our system as regards rare diseases. The Minister's announcement of an updated national rare diseases plan is a positive step in the right direction but I think he will acknowledge that there is more that we can be doing. Living with rare diseases can mean a lonely station with little contact with other sufferers and very little helpful information. There is an opportunity for the Minister and his Department, alongside making some firm changes, to run an awareness campaign. The public attitude is one of wanting to know more. We know this from a recent study that showed 30% of people claimed to have an awareness of the term "rare disease" and could correctly identify a condition. Importantly, 69% expressed an interest in learning more about rare diseases. The Minister and his Department should build on this, particularly when 82% of respondents to this survey agreed that these conditions need to be taken more seriously. The alliance of rare diseases has called for the appointment of a designated liaison person within the Department of Health with whom to discuss rare disease policy. The Minister mentioned liaising in his own speech but I would like him to give further strong consideration to the proposal that there be one point of contact at a senior level. It would be remiss of me not acknowledge the Minister's commitment to this issue, which I estimate most sincerely, and indeed the work of Deputy O'Sullivan and Deputy Naughten in this House over the four years I have been here.

Deputy Róisín Shortall

Last week, along with other Members of the House, including Deputy Naughten, I had the pleasure of attending the "I Am Number 17" exhibition launch in St. Stephen's Green. The exhibition features 17 people living with rare diseases, reflecting the fact that one in 17 people will be affected by a rare disease at some point in their lives. Putting their stories on display in the heart of our capital city, just a stone's throw from the Oireachtas and Government Buildings, is certainly a powerful statement and I encourage Members to visit it.

Recently, rare diseases policy reform has been put back on the political agenda thanks to the advocacy of patients and their families. I also acknowledge the commitment of the Minister to addressing this issue. Six years after the last rare disease plan expired, a new plan is finally being developed and that is very welcome. However, implementation of that plan is the key thing. After all, many of the recommendations from the last national plan remain unimplemented. That cannot be repeated this time around. One of the key actions must be reducing the length of time it takes to receive a diagnosis. As of May 2023, the waiting time for a clinical genetics outpatient appointment was up to two years. However, getting a final diagnosis for a rare disease is often an even longer and more convoluted process. A 2022 Rare Diseases Ireland survey found that 21% of patients waiting two to five years for a final diagnosis, while 14% waited between five and ten years. Incredibly, for 23% of patients, the wait was a staggering ten years or more.

One of the key findings from the research was that a lack of rare disease awareness, particularly among GPs and emergency doctors, led to delayed diagnoses and treatments. A recent 10% increase in genetic service referrals between 2020 and 2022 would suggest that the tide is beginning to turn. However, we still have some way to go before bridging the knowledge gap in primary care, emergency care and social care. If the new plan is to deliver for patients, increased capacity in genetic and genomic services is also required. According to 2023 Rare Diseases Ireland report, the Republic of Ireland has 4.3 genomics staff per million population, well below Northern Ireland's 8.4 staff per million population. The wait time for a first clinical appointment in this jurisdiction is a staggering 24 months, eight times longer than the North's three months. I acknowledge that some progress has been made following the publication of the national strategy for genomics and genetic medicine but it is regrettable that the 2023 recruitment targets were not met. Now, a recruitment freeze is in place so it is very hard to know where we stand in terms of implementing that commitment.

People with rare diseases also experience very fragmented care, with limited and disjointed access to services. Some 73% of respondents to Rare Diseases Ireland's survey in 2022 said that their care was not co-ordinated effectively, while only 15% had a personalised care plan in place. This lack of co-ordination should improve with the implementation of the regional health areas but a strategy for rare disease management at national level will still be needed to address quite specific shortcomings in service integration. Undoubtedly, there are many other relevant issues such as investment in rare disease research, implementation of e-health and access to orphan medicines but my time is limited. In conclusion, I would like to state the Social Democrats' support for the development of a new rare disease plan. An updated roadmap for the prevention, diagnosis and treatment of rare diseases is long overdue and I look forward to its publication this year at some point, we hope sooner rather than later.

Deputy Denis Naughten

I echo the comments by colleagues on access to drugs, expansion of the heel prick test and the implementation plan for rare diseases. It is one thing having a plan but having it implemented is something different. The surprising thing about rare diseases is that despite their name, they are collectively quite common, affecting at least one in 17 people in Ireland, equating to approximately 300,000 people the length and breadth of this country. This figure is likely to be an underestimation, with the true prevalence of rare conditions probably higher. In a small country like ours, it is likely that each and every one of us has encountered someone affected by a rare disease. As colleagues said, the path to an accurate diagnosis is fraught with challenges. The lack of specific knowledge and expertise often leads to significant delays in receiving proper treatment, placing a heavy burden on families and carers. The anguish of being ill without diagnosis or witnessing a child suffering without recognition is profound. Thus, securing an accurate and swift diagnosis is of critical importance.

Turning to the point Deputy Shortall made, genome sequencing and access to it is vitally important. Last week a number of us attended at Farmleigh where there was an all-island conference on rare diseases. One of the discussions referred to a review article that has just been published in npj Genomic Medicine. It is reviewing the use of first line genome sequencing to diagnose rare diseases and disorders. It is research that has been conducted in the US and it is a review article of research around the globe. The paper points out that genome sequencing can help overcome the disparities in healthcare access and outcomes that are a persistent issue, and can provide a unique opportunity to bridge the gaps by providing equitable access to advanced genetic diagnosis. Implementing policies that promote genome sequencing accessibility can mitigate these disparities, and ensure all patients regardless of socioeconomic status or geographic location will have access to state-of-the-art genetic testing. This approach not only enhances patient care but also promotes fairness and equity within our healthcare services. The report goes on to highlight that the initial costs of genome sequencing are balanced by its comprehensive diagnostic capability, potentially reducing the need for multiple and sequential genetic testing.

By adopting genome sequencing as a first-line test, we can optimise resource allocation and reduce long-term health costs through more efficient diagnosis and management of genetic disorders. We need to consider the long-term benefits of this and not just look at it for acute or exceptional cases. It should be available far more broadly in our healthcare system. That review article makes the economic as well as the healthcare case. That is of importance and cannot be ignored.

Some 37% of patients endure a gruelling five year quest to get diagnoses. Irish research reveals that children with rare diseases occupy hospital beds 25 times more than their peers; yet, our efforts to harness the potential through a national genomic strategy for genetics and genomic medicine has been hampered by the recruitment process, the embargo on the recruitment of staff and the absence of a designated home for a new central genetics and genomic laboratory. No provision has been made for it in the new children's hospital as of now. I ask the Minister to develop the site that will be decanted in Crumlin as the centre of excellence for genomics medicines, put the resources there and provide access not only for people with rare conditions, but more broadly as part of a diagnostic healthcare tool because it will save our health service, provide rapid diagnosis and ensure far more people get the care they need in a timely manner.

Deputy Violet-Anne Wynne

I will begin by acknowledging the various constituents who took the time to reach out to me to inform me and relay their personal stories, in some cases, reliving the inevitable trauma they experienced. They encouraged me to support the Get Rare Aware campaign and Rare Diseases Ireland. I thank them for their continued passionate advocacy. I also remember the 12% of children with rare diseases who pass away before they turn 18, their families and all the people affected by rare diseases.

I will talk about the rare reality survey for a minute. Survey responses indicated that the journey to diagnosis is far too long, often too fragmented and far too stressful. Some 37% of respondents waited longer than five years for a diagnosis, 53% were assessed and in some cases treated for three different conditions on the journey to diagnosis, and 72% saw three or more consultants in different specialties on their journeys to diagnosis. Some 77% of those who accessed genetic testing received a definitive diagnosis and, highlighting the significance of the issue, three quarters of respondents received genetic testing results within three months when they went to a private healthcare provider and only 38% did so in the public system.

Another report, Ending the Wait, made four main recommendations, which I support in the House this afternoon. First, we must accelerate recruitment and expand the types of roles that staff genetic services. This will allow senior clinical staff to focus on the complex tasks such as diagnosis and create an important resource pipeline. Second, we must equip clinical teams with the resources to achieve further efficiencies in pathway management. Third, we must empower clinical teams to implement interim technology solutions; and finally, we must utilise accessible capacity and build cross-Border services on the island of Ireland through collaboration with services in the North.

An Cathaoirleach Gníomhach (Deputy Seán Canney)

We will now go back to the Government.

Minister of State at the Department of Health (Deputy Hildegarde Naughton)

Are there no more speakers? Is it the closing statement?

An Cathaoirleach Gníomhach (Deputy Seán Canney)

Yes.

Deputy Hildegarde Naughton

I thank all the Deputies who participated in the debate for their interest and contributions on this important topic. Many rare conditions are both severe and complex and patients can face multiple challenges, including difficulties accessing appropriate medication.

The development of a successor to the previous national rare disease plan is a key priority for the Department of Health in order to enhance care and treatment for the estimated 300,000 people living with a rare disease in Ireland. The rare disease steering group has been tasked with developing a new national rare disease plan for Ireland that sets out the vision for rare disease services and the actions we must take in order to make this vision a reality. The development of this strategy will be informed by contributions from the new patient forum, which puts the voices of patients and families at the centre of policy-making. It is vital that the views and experiences of those affected by rare diseases are central to the work we do. As previously stated, the development of a new strategy will allow us to consider areas of the previous plan that need to be further progressed, while also looking to the future and responding to the needs of patients.

It was evident that there has been an increased focus on rare diseases in recent years, which is welcome. The events that took place across the country during Rare Disease Day last week highlight the tireless work of patients, advocacy groups and the public in increasing our awareness of rare diseases. It also highlighted that while rare individually, collectively, rare diseases are much more common than many of us may think, affecting an estimated 6% of our population. The development of the new national rare disease plan, due to be published later this year, marks a renewed focus on rare diseases and fulfils the commitment made in the programme for Government. It is hoped that this new strategy and its implementation will address gaps in rare disease services and ensure patients and their families receive the right care, at the right time, in the right place.

Once again, I thank all the Deputies who participated in the debate today and assure them the Government is fully committed to doing everything possible to reduce the impact of rare diseases and improve services and treatments for people living with a rare disease diagnosis in Ireland.