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.
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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