There are actually between 6,000 and 8,000 rare diseases and while a disease may be rare, rare diseases are most certainly not.
Indeed, in Ireland, it is estimated that there are 300,000 people living with a rare disease.
To mark Rare Disease Day, a number of patient organisations have come together under the umbrella of the Rare Disease Taskforce to produce a new booklet for people who want to find out more about rare diseases.
The publication – An Easyguide to Rare Diseases in Ireland – features information on rare diseases in general, as well as more detailed information on specific conditions such as spina bifida, cystinosis, juvenile Huntington’s disease and many more.
The Easyguide features contributions from people who have kindly shared their experience of living with a rare disease, and it also provides signposts for support services and patient groups.
One of the key challenges for the rare disease community is the fact that lack of knowledge and awareness can be a significant barrier to early diagnosis and treatment.
People who are interested in this area can access the booklet, which is free of charge, from the Rare Diseases Ireland website at www.rdi.ie/rdeasyguide-2020