A ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are an estimated 6-8,000 known rare diseases affecting up to 6% of the total EU population, (at least 30 million Europeans), and perhaps up to 300,000 Irish people during their lives.
Conditions such as Cystic Fibrosis, Haemophilia and PKU are familiar to many. There are many other rare and ultra-rare conditions. The biggest bulk, however, of the presenting conditions are accounted for by about 350 conditions. Approximately 80% of these conditions are genetic and although a high proportion present in childhood, many also present for the first time in adulthood.
In Europe, it is recognised that accurate and timely diagnosis and access to treatment for individuals with rare diseases are severely hampered by a few major issues. These include lack of recognition and visibility in health care systems leading to difficulties in coordination and communication, the lack of national policies with limited and fragmented resources for individuals with rare diseases, with often the lack of specific clinical expertise for the condition in the specific country, and very highly fragmented clinical research leading to inefficient use of limited resources.
The primary concerns expressed by patients, families and the medical professionals are the prolonged and difficult diagnostic journey and the lack of information and lack of awareness of rare diseases in the community. These difficulties were reflected in the on line public consultation, ‘Have your say’ (HSE 2012).
The National Clinical Programme for Rare Diseases was established in December 2013 with Professor Eileen Treacy as the Clinical Lead. Please click on the ‘About Us’ button to learn more about the clinical programme.
