The first National Rare Diseases Office was opened today, 4 June 2015, at the Mater Misericordiae University Hospital

The National Rare Diseases Office (NRDO), which was opened in collaboration with the Royal College of Physicians of Ireland/HSE National Clinical Programme for Rare Diseases and HSE Acute Hospital Division, will move to the new Children’s Hospital when it opens (proposed to open in 2020).

The principle functions of the National Rare Diseases Office include:

• Identification of expertise in rare diseases to include information about locations of medical and multi-disciplinary assessment and management, in addition to research, genetic testing and psychosocial care
• A helpline for patients and clinicians primarily to provide information about rare disease or the disease related topic
• Future co-ordination of and development of rare disease registries.
• The establishment of Orphanet, the European rare disease portal

A rare disease is defined in the EU as a life threatening or chronically debilitating disease that affects fewer than 5 individuals in 100,000 of the European population. While the numbers of people with each disease is individually small, collectively rare diseases affect many people and their families. 

It is estimated that there are at least 6,000 known rare diseases and that up to 6% of the population will develop a rare disease during their lifetime. Approximately 80% of these conditions are genetic. Examples of rare diseases are haemophilia and muscular dystrophy.

The Department of Health’s first national rare disease plan, “A Rare Disease Plan for Ireland 2014 – 2018” was published in 2014. The key recommendations of this plan include the creation of a National Clinical Programme for Rare Diseases and a National Office for Rare Diseases, which together will lead to improvements in specialist services and the development of a model of care for rare diseases.

The HSE will soon participate in the upcoming 3^rd European Commission Rare Diseases Joint Action (2015-2018), which supports Member States to establish Orphanet in their territory, as recommended in the EC 2011 Directive on patients’ rights in cross border healthcare. Orphanet is the European rare disease portal, which to date lists descriptions of almost 6,000 rare diseases and has grown into the number one online source of information on rare diseases worldwide, providing information to patients and healthcare providers including information about clinical services, support groups, research and clinical trials for rare diseases. The existence of Rare Disease Information systems for both patients and professionals have been identified as an indicator of success of Member State Rare Disease Plans. The establishment of Orphanet in Ireland at the Rare Diseases Office is a recommendation of our Rare Diseases National Plan. Orphanet Ireland is now live at www.orpha.net.

The helpline function is planned to be up and running in late 2015.  

A Patient Information Booth providing rare disease leaflets and a dedicated rare disease search computer portal is now available on site at Mater Hospital Eccles St entrance.