Rare Disease Day 2014

Joining together for better care

  • Date: 20 Feb 2014
Rare Disease Day 2014

28 February 2014 marks the seventh international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from more than 70 countries and regions worldwide are planning awareness-raising activities around the slogan “Join Together for Better Care”. Get more information from the Rare Disease Day site and find out what you can do to spread the word!

What is a rare disease?

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing.

  •     80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  •     50% of rare diseases touch children

Common problems faced

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis or initial misdiagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

Rare Disease Day 2014: join together for better care

 

The theme for 2014 highlights that the many different facets of rare disease care represents a universal need for patients and their families around the world. Advocating at the local and national level to improve the lives of people living with a rare disease and their families is necessary.

Rare Cancers: the burden and challenges

According to the RARECARE project, around 4.3 million people in the European Union (EU) are affected by rare cancers and there are more than 500,000 new cases diagnosed every year ( Eur J Cancer. 2011 Oct 25). Individually, each of the 186 identified rare cancers is considered "rare", but collectively they represent about 22% of all cancer cases diagnosed in the EU each year, including rare adult solid tumours (13%) and rare haematological cancers (8%) as well as all childhood cancers (1%).

Specific challenges posed by rare cancers:

  •     Late or incorrect diagnosis
  •     Lack of access to appropriate therapies and clinical expertise
  •     Very limited number of clinical studies due to the small number of patients
  •     Lack of interest in developing new therapies due to limitations in the market
  •     Few available registries and tissue banks

Find out more in the recent Rare Cancers Europe Consensus on improving the pathologic diagnosis of rare cancers.