First European Rare Disease Day highlights impact on people affected by
NEW YORK, Feb. 28 /PRNewswire/ -- European Rare Disease Day -- The first ever European Rare Disease Day will be launched on Friday 29 February...because it's a rare day that only comes around once every four years, of course.
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Collectively, rare diseases aren't rare. Rare diseases are defined as those that affect less than 5 in 10,000 people, yet there are approximately 7000 rare diseases, affecting up to 30 million people in the European Union. Current information about these diseases is not always sufficient, making diagnosis difficult. As a result, some patients may have to wait many years to get a confirmed diagnosis - making this a public health priority.
But what can we do about it? The European Organisation for Rare Diseases (EURORDIS) thinks a lot. It's an umbrella group that is building a pan- European network of more than 300 rare disease organisations across 34 different countries, to give a single voice to the large number of people affected by rare diseases.
Up to 30 million people are affected by rare diseases in the European
Union. Put another way this could mean:
-- Every time the San Siro stadium in Milan hosts a football match there
could be over 5000 people there with rare diseases
-- There could be over 2500 people with these illnesses at EuroDisney on
an average day
-- In any one day, over 1400 people visiting the Louvre museum in Paris
could have these diseases
-- Over 4 million members of Facebook could have a rare disease
So what is a rare disease?
-- They have a low prevalence (affect less than 5 in 10,000 people), and
are often chronic, progressive and life-threatening
-- 80% of rare diseases have genetic origins
-- They are associated with a diverse range of symptoms that vary not only
between rare diseases, but also often within a rare disease
-- Relatively common symptoms can hide underlying rare diseases - leading
-- They often cause a high degree of psychosocial burden.
Rare diseases are often poorly understood, and patients sometimes have to wait a very long time to get a correct diagnosis. This delay can lead to the clinical worsening of the patient's physical and psychological health and can cause anxiety, depression, and feelings of isolation for the patient's family.
Fabry Disease (also known as Anderson-Fabry Disease) is a lysosomal storage disease with an estimated birth incidence of 1 in 117,000. It can cause a wide range of symptoms, including pain, skin rashes (known as angiokeratomas), gastrointestinal complaints, and affects many internal organs including the kidneys, heart, and brain.
The disease is caused by a genetic mutation that results in a lack of, or low level or activity of, an enzyme called alpha galactosidase A (a-Gal A). This enzyme is needed by the body to break down a fatty substance called globotriaosylceramide (Gb3). Without the enzyme this fatty substance builds up in the cells throughout the body and affects their normal function.
Due to the varied nature of the symptoms and the slow progressive course of Fabry disease, there is an average delay between the onset of symptoms and diagnosis of 12 years. Life expectancy is generally reduced by 20 years in men and 15 years in women with Fabry disease, compared with the general population.
Fabry disease is one of a group of 45 similar genetic disorders, known collectively as lysosomal storage disorders.
European Rare Disease Day is designed to improve the understanding, care and treatment of these kinds of diseases to improve the lives of those affected by them.
The next milestone for the organisation is a public hearing at the European Parliament in Brussels on 4th March. EURORDIS and MEPs Frederique Ries and Jules Maaten will present the issue of rare diseases as a public health priority, and examine the outcome of a consultation report and national plans for rare diseases.
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