The new National Rare Disease Office was officially opened by Minister for Health Leo Varadkar, T.D. in the Mater Hospital in Dublin yesterday, June 4th.
The principal functions of the National Rare Diseases Office (NRDO) will include:
• development of a database of expertise in rare diseases
• setting up a helpline function for patients and clinicians primarily to provide information about rare disease or related topics
• providing information about locations of medical and multi-disciplinary assessment and management
• research, genetic testing and psychosocial care
• in time it is hoped, the co-ordination of and development of rare disease registries.
Minister Varadkar speaking at the event yesterday
The NRDO helpline function is planned to be operational in autumn 2015. A Patient Information Booth providing rare disease leaflets and a dedicated rare disease search computer portal is now also available on site at the Mater Hospital.
Speaking at the launch Minister Varadkar said ‘We know that a very large number of diseases are classed as rare – somewhere between 5,000 and 8,000. Despite their rarity, these diseases affect millions of EU citizens, because there are so many individual cases. I understand the challenges that these people face. At the start of their journey, patients often find it hard to get an accurate diagnosis. This can be due to a lack of expertise or knowledge about a particular condition. There may also be delays in getting appropriate treatment for the same reasons. And there is often a heavy burden for carers and families of people with rare diseases. We know that people living with a rare disease and their families – especially parents of young children – are often the leading ‘experts’ in their diseases. It’s important that we recognise this and provide the necessary supports.’
The establishment of a National Rare Disease Office was one of the key recommendations of the Department of Health’s first national rare disease plan, ‘A Rare Disease Plan for Ireland 2014-2018’, which was published last July. The office will be located at the Mater Misericordiae University Hospital until the new National Childrens Hospital opens and will then re-locate there.