28 February 2017: Rare Disease Day

Rare Disease Day is remembered annually on 28 February worldwide since 2008. Originally 18 countries took part in commemorative events. Last year, in 2016, events were held in 84 countries.

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000 people. A disease or disorder is defined as rare in America when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients, while another may affect as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6,000 existing rare diseases.

Eighty percent (80%) of rare diseases have identified genetic origins. Others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. Fifty percent (50%) of rare diseases affect children.

Over 6,000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment.

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. There is also the need for appropriate quality health care, which may be expensive. Due to the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from pooling resources across borders.

Initiatives such as the European Reference Networks (networks of centres of expertise and healthcare providers that facilitate cross-border research and healthcare), the International Rare Disease Research Consortium and the EU Framework Programme for Research and Innovation Horizon 2020 support international research.

http://www.rarediseaseday.org/article/what-is-a-rare-disease

MARTINA NICOLLS is an international aid and development consultant, and the author of:- The Shortness of Life: A Mongolian Lament (2015), Liberia’s Deadest Ends (2012), Bardot’s Comet (2011), Kashmir on a Knife-Edge (2010) and The Sudan Curse (2009).

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