Jillian van Turnhout (Independent)

I thank the Minister for attending the House for the debate on this Private Members' motion. I thank my colleagues in Fine Gael, particularly Senators Burke and Keane, for bringing forward this motion. I was not very informed on the subject of rare disease care so I welcome the fact that I had to immerse myself in the subject and learn more. It astounded me the number of rare disease patients EU-wide is the equivalent of the combined populations of the Netherlands, Belgium and Luxemburg, which highlights the need to do more in this area.

I would have preferred if the motion had recognised that rare illnesses affect children far more than any other group. Up to 75% of rare diseases affect children. In the United States, 50% of recognised patients are children. Tragically, 30% of all patients die before they reach five years of age. Faced with such figures, it is clear that making access to a proper diagnosis and appropriate treatment is a clear public health priority. Given the numbers of children who die before the age of five, it shows the importance of timeliness in ensuring proper diagnosis.

Up to 41% of respondents to a genetic and rare disorders organisation's patient experience survey felt they did not have access to the best medical care for their condition. Without a diagnostic system in place, the State leaves rare disease sufferers facing long delays in diagnosis and even misdiagnosis before their conditions can be addressed. The consequences of such delays can be quite dramatic ranging from loss of confidence in the health care system, the decline of the physical, mental and emotional well-being of a sufferer and even leading to the premature death of a patient. I was stunned to find a survey by EURORDIS, the European Rare Diseases Organisation, on diagnostic delays revealed that one out of six sufferers in Europe underwent surgical treatment based on a false diagnosis. Many rare disease patients also suffer profound and multiple disabilities.

While the motion does not address the wider issues faced by such patients such as access to basic facilities, carers and respite services and the geographical differences in the standard of care that can be expected, I fully support it. It is a step in the right direction. Now that I am more knowledgeable of the subject, I will endeavour to follow it more closely.