I welcome the opportunity to speak about rare diseases today. One of my constituents has a rare disease and is a great advocate. Today, I wish to speak about a condition that affects thousands of people across Ireland, yet remains widely misunderstood and too often invisible, and that is neurofibromatosis, NF. Neurofibromatosis is classified as a rare disease. It is a genetic disorder that causes tumours to grow on nerves anywhere on the body. These tumours are usually benign but their impact is anything but. This can lead to chronic pain, disfigurement, hearing and vision loss, mobility issues, learning difficulties and, in some cases, life-threatening complications. As NF varies so wildly from person to person, no two journeys look the same. Despite the seriousness of this condition, neurofibromatosis remains under-recognised and under-resourced within our health service. For those with the condition, one of the biggest obstacles to care is delayed diagnosis, and many families spend years trying to obtain that diagnosis. If they do eventually get it, access to specialist care is extremely limited. An early diagnosis is essential for issues such as medical management, psychological care and educational supports. Of equal concern is that there is no neurofibromatosis centre in Ireland, meaning patients rely on fragmented services spread across multiple hospitals and healthcare settings. Children may receive good paediatric support but once they turn 18, they face many difficulties in accessing the care they need. Adults with NF struggle to access neurologists, psychologists and pain and other specialists who understand their condition. Over the years, I have submitted many questions in regard to all these areas and I hope the Minister will continue to work with me on this issue so we can provide better services for those who are affected. I had two children in with me on work experience last year, Paul and Charlotte, twins who both suffer from NF. They were a joy to have in the office for the few days. Their two younger siblings, Rafael and Roman-Jean, also have NF, as does their mam, Gillian. Gillian lives in Maynooth and she really is a great advocate in campaigning to get a neurofibromatosis centre in Ireland. We talked about orphan drugs. I often feel very sorry for the man who goes out on "Prime Time" to explain why they cannot cover this drug or the delay, particularly when drug companies make so much money. When you think about the people and the scientists who work in those laboratories, they are not doing it for the money; they are doing it for the recognition and because there is a drive in them. It is really important that we financially support the research into this. Maybe it is for legacy that they want to do it but they do want our interest. The motivation is not always money but they do need the support.

Sentiment score: 0.13