Whilst we have had a slight explosion of 'days' 'weeks' and months' of celebration or awareness lately (February also sees National Weatherman's Day, Ferris Wheel Day and Plumb Pudding Day) Rare Disease Day sounds like a good idea. There is a lot of interesting information at the website and more at the sponsoring organization NORD - the National Organization for Rare Disorders.
Why is Rare Disease Day important?
Rare Disease Day is the perfect occasion to inform or remind people that rare diseases need to be paid special attention to, because:
- Rare diseases are life-threatening or chronically debilitating diseases with a low prevalence and a high level of complexity. Patients with very rare diseases and their families are particularly isolated and vulnerable. The life expectancy of rare disease patients is significantly reduced and many have disabilities that become a source of discrimination and reduce or destroy educational, professional or social opportunities.
- The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore without reason to hope.
- The lack of specific health policies and the scarcity of expertise translate into delayed appropriate diagnosis and difficulty of access to care. The national healthcare services for diagnosis, treatment and care of rare disease patients differ significantly in terms of their availability and quality. European citizens have unequal access to healthcare services and to orphan drugs.
- Research on rare diseases is scarce