Rare Diseases Must Be Top of the Health Agenda

First European Rare Disease Day highlights impact on people affected by rare diseases

Friday 29 February 2008 (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.

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 to misdiagnosis
* 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.
This information was compiled with assistance from Shire Human Genetic Therapies (Shire HGT), a business unit of Shire Pharmaceuticals Limited