Paul Murphy (Dublin South West, Solidarity)

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.

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