An Easyguide to Rare Diseases in Ireland and Consensus for Action

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Rare diseases are characterised by their relatively low prevalence (less than 1 in 2,000 people in the EU). To have a rare disease is to have a condition that often goes undiagnosed for years. Doctors may never have seen the condition before and hospital diagnostic services may struggle to find the rare disease presented by an individual and their family/carer.

Once accurately diagnosed, people with a rare disease and their carers may face further challenges to find a suitably defined care pathway for treatment and to access therapies, which can become even more frustrating if a condition is ultra-rare (less than 1 in 100,000).

However, there is hope. The outlook for some patients in Ireland with rare diseases has become steadily more positive in recent years in disease areas that have benefitted from significant investment in research, drug-therapies and services.

An Easy Guide for Rare Diseases in Ireland

This guide provides an overview of rare diseases in Ireland, outlines rare disease priorities for Government and tells 16 stories of people and families affected by rare diseases.

We would like to thank our partners in the Rare Disease Taskforce, Rare Diseases Ireland and IPPOSI. We offer particular gratitude to the Chair of the Taskforce, Philip Watt and his colleagues in Cystic Fibrosis Ireland who drove the development and publication of this guide.

Download the Easy Guide to Rare Diseases here.