RARE DISEASE DAY

The last day of February marks Rare Disease Day, an international event to raise awareness of conditions that individually affect very few, but collectively affect many.

A disease is defined as rare in Europe when it affects fewer than 1 in 2000 people. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing. Despite the many different rare diseases, the problems that patients experience can be startlingly similar.

Beginning with a long time to diagnosis, often involving a series of misdiagnoses, patient journeys are fraught with a lack of local expertise, a shortage of high-powered clinical trials to determine best practice and few treatment options thanks to low commercial interest.

However, recognising these problems has lead to significant steps forward, and several organisations are now in action in Europe and across the world to overcome geographical separation and bring experts in the field together. One such organisation is the European Commission Expert Group on Rare Diseases (formerly the European Union Committee of Experts on Rare Diseases), and you can read more about some of the fantastic work carried out in the Orphanet newsletter for 28 February.

The theme for Rare Disease Day 2014 is CARE, and it and encourages everyone in the rare disease community to Join Together for Better Care. As part of that community, we will be hosting a satellite symposium on rare diseases at ECE 2014.

Join us on twitter using the hashtag #RareDisease and add your voice to the international rare disease community.