BY Kathrin Kobus
This year has the one extra day in February, 2020 being a leap year.
The leap day, the 29th February is also rare disease day. A reminder by the Rare Disease Ireland that there are around 300,000 people with a rare disease in Ireland.
A rare disease is defined (in Europe at least) as fewer than five cases for every ten thousand persons.
About 70% of rare diseases appear in childhood and remain a lifelong condition.
Worldwide 8,000 conditions/diseases are currently registered as such, among them spina bifida, cystinosis, juvenile Huntington’s disease.
“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.” So Vicky McGrath, CEO for Rare Diseases Ireland.
To mark this year’s leap day and therefore Rare Disease day several patient groups have pooled their efforts and formed a Rare Disease taskforce.
The result is a brochure An easy guide that contains overview of specific illnesses and case profiles. It also provides links to support services and patient groups.
Furthermore it outlines “Ten priorities for action in the forthcoming Programme for Government” including the screening at birth for 20 rare conditions instead of the currently 8.
The booklet is free of charge and available as a download from the Rare Diseases Ireland website at www.rdi.ie/rdeasyguide-2020
