Paul Murphy (Dublin South West, Solidarity)
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I wish to raise the issue of funding for rare diseases. Rare diseases are not all that rare, given that 300,000 people are affected by one rare disease or another in Ireland, involving over 8,000 different diseases. While each individual disease is very rare, as a total they are quite common and have a big impact on people's lives. Often they suffer from a lack of research into their condition which then impacts treatment and the assistance they are able to get.

I want in particular to raise Okur-Chung neurodevelopmental syndrome, which is a rare disease that causes gene deletion. It is associated with a range of clinical features but especially developmental delay affecting language and motor skills. In the data only 300 cases have been identified worldwide with seven people in Ireland affected. It is likely that there are more cases that have not been accurately diagnosed as yet. We have seen that to be the case with other rare diseases with initiatives such as the 100,000 Genomes Project helping to identify a number of previously unidentified cases in the UK. Between the difficulty in diagnosing cases of Okur-Chung and the wide range of symptoms associated with the condition, what parents of children affected by Okur-Chung and patients both need is more research and more information. Many more cases of Okur-Chung and other rare genetic conditions could be identified with more funding for research projects based on whole-genome sequencing along the lines of the 100,000 Genomes Project. With more cases to observe, clinicians could offer better advice and more certainty to parents. With luck, researchers might be able to uncover new approaches to the treatment and management of the condition.

This came to my attention because of a case in my constituency. The mother of a young boy, Leo, came to me. He suffers from Okur-Chung syndrome which has caused him a number of challenges, such as learning disabilities, speech delay, a heart murmur and underdeveloped muscles which only allow him to walk for five to ten minutes at a time. He requires help when using the bathroom. He is also at risk of developing scoliosis. He has hearing difficulties and other conditions. His mother is concerned that her son's health will deteriorate further.

The worst part is that she simply does not know due to the lack of research into rare diseases like this. His doctor did not even know about the disease until it was diagnosed. We know that some of the common symptoms of Okur-Chung are well characterised and can even be treated, but other features of the condition are less well understood and at present there are no treatment or management plans.

There is a fundamental gap in the scientific literature on Okur-Chung as with many other rare diseases, which can only be addressed by funding from the State for fundamental research projects into human development in general and particular rare conditions such as Okur-Chung. There is not a sufficient market here to invite in the pharmaceutical companies on a profit basis; it is too niche to be worth the investment. Instead, we need a people-first approach to researching rare diseases with more appropriate funding for other research into this condition among others so that we can better characterise other features of Okur-Chung in order that individuals and their families can better understand their situation and plan for their lives ahead.

Kieran O'Donnell (Limerick City, Fine Gael)
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I thank the Deputy for raising this important issue. I am responding on behalf of my colleague, the Minister for Health, Jennifer Carroll MacNeill.

As the Deputy will be aware, Okur-Chung is an ultra-rare neurodevelopmental syndrome with an estimated 160 individuals living with this syndrome globally. Okur-Chung was first identified in 2016 and, as such there is still much we do not know about this syndrome. However, ongoing international research seeks to provide a better understanding of Okur-Chung syndrome and explore possible treatment options.

The recently published national rare disease strategy acknowledges the important role research plays in developing a better understanding of the mechanisms of disease which can enable early diagnosis, earlier treatment and overall better health outcomes for people. Greater knowledge of rare diseases is important for the development of novel therapeutics, treatment strategies and facilitation of more responsive and appropriate services for people living with a rare disease, their families and circle of support. Research is also important for supporting the recruitment, retention and motivation of healthcare personnel who will drive the development of quality services.

Substantial advancements have been made to embed research within Ireland’s healthcare system, and the Department of Health has ensured that research is a key aspect of strategies and frameworks, such as the national rare disease strategy. In Ireland, several organisations have their own specific roles in contributing towards the advancement of rare diseases research.

Organisations such as Health Research Charities Ireland and Taighde Éireann, Research Ireland, have a central role to play in funding and supporting research initiatives related to rare diseases through the provision of grant schemes, co-funding of research projects and programmes and partnerships that prioritise rare diseases.

Research in Ireland is further supported by the involvement of patient advocacy groups such as the Irish Platform for Patients Organisations, Science and Industry, IPPOSI, and Rare Diseases Ireland, RDI, which, through ensuring that research is aligned with patient priorities, advocate and provide a voice for the needs of people with rare diseases and ensure their perspectives are included in research agendas.

Recognising that improved engagement, collaboration and partnership both nationally and internationally with industry, Government, representative organisations, healthcare professionals and academic partners will help to drive strong research and innovation for all aspects of living with rare diseases, the new rare disease strategy recommends that a national rare disease research group be established to provide a structured, co-ordinated, multi-actor and strategic approach to ensuring more high-quality rare diseases research in Ireland. The strategy also recommends that opportunities for rare disease-specific funded research calls, targeting both indigenous research and greater participation in international consortia, be increased, as well as ensuring that healthcare professionals are supported and encouraged to pursue research in rare diseases and provided with the dedicated time to do so.

By streamlining collaboration and establishing stronger relationships between stakeholders through the development of a clear and co-ordinated approach, research efforts can be better integrated into the health system and have greater impact on patient outcomes.

Paul Murphy (Dublin South West, Solidarity)
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I might just quote from Elizabeth who was in touch with me to let the Minister of State hear her voice.

... I would like you to explain to [the Minister] Leo's everyday struggles (he has autism a heart murmur, a learning disability, and muscle weakness) these are all due to his ocnds [Okur-Chung neurodevelopmental syndrome] diagnosis I would like you to explain that though deteriorating isn't a noted symptom this is likely due to the lack of research on the small numbers of 300 people worldwide! That I've spoken to other mothers and they are noticing the same deteriorating! One of those mothers is also from Ireland and her son is now in a wheelchair. That we need research on this condition to know what the future holds for our son, having no answers as parents is hard enough without having no answers to give him! We can't tell him if his legs will just keep getting more tired and less able to support him. (This week he has started to fall like his legs have just started going from under him)

Obviously, the Government has announced increased funding for rare disease initiatives, which is welcome. However, on the basis of the current funding the Government talks about nine rare diseases which are being screened for. Obviously, that is a drop in the ocean when we consider the over 8,000 rare diseases affecting 300,000 people in this country. Therefore, we need more funding for research, which is not going to come from the private sector. Research will enable people to be less isolated in their own condition and enable them to see some light at the end of the tunnel to say, "Okay, this is what is likely to happen and this is the treatment and management that can be used to assist me."

I appeal to the Minister of State, in the context of the budget discussions and so on, to ensure that the most possible is provided.

Kieran O'Donnell (Limerick City, Fine Gael)
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I acknowledge the story the Deputy tells about Elizabeth. Is it her son Leo?

Paul Murphy (Dublin South West, Solidarity)
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Yes.

Kieran O'Donnell (Limerick City, Fine Gael)
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What age is Leo?

Paul Murphy (Dublin South West, Solidarity)
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He is seven.

Kieran O'Donnell (Limerick City, Fine Gael)
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It is called Okur-Chung Neurodevelopmental Syndrome, OCNDS. Is that the norm?

Paul Murphy (Dublin South West, Solidarity)
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Yes.

Kieran O'Donnell (Limerick City, Fine Gael)
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I appreciate how difficult it is for Elizabeth, Leo and his family. Once again, I thank the Deputy for providing the opportunity to discuss this important matter. As previously stated, it is hoped that through the implementation of the recently launched national rare disease strategy, we can increase rare disease research opportunity in Ireland. Knowing that meaningful research is being undertaken offers hope for the future as well as possibly leading to treatment options.

By building on the work already undertaken through the rare disease clinical trial network, the rare diseases research and innovation catalyst award and through participation in the European Rare Disease Research Alliance, we can foster a cohesive research environment that responds to the needs of people living with rare diseases and clinicians.

Improved engagement, collaboration and partnership nationally and internationally will help to drive strong research innovation for all aspects associated with living with rare diseases. The established national rare disease research group has outlined that a new rare disease strategy will be an important step forward in providing a structured, co-ordinated, multi-actor and strategic approach to rare diseases research in Ireland.

I will bring the case of Elizabeth, and more particularly that of her son, Leo, to the attention of the Minister. I will put that in the context of the upcoming budget as well.