A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000 citizens. Rare diseases may affect 30 million Europeans.
A disease or disorder is defined as rare in the USA if it affects fewer than 200,000 Americans at any given time.
It is estimated that there are 6000 to 8000 rare diseases in the world today
Characteristics of rare diseases
- Rare diseases are often chronic, progressive, degenerative, and often life-threatening
- Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy
- High level of pain and suffering for the patient and his/her family
- No existing effective cure
- There are between 6000 and 8000 rare diseases
- 75% of rare disease affect children 30% of rare disease patients die before the age of 5
- 80% of rare diseases have identified genetic origins. Other rare diseases are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
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.
Rare disease patients face common problems:
- Lack of access to correct diagnosis
- Delay in diagnosis Lack of quality information on the disease
- Lack of scientific knowledge of the disease
- Heavy social consequences for patients Lack of appropriate quality healthcare
- Inequities and difficulties in access to treatment and care
How can things change?
- By implementing a comprehensive approach to rare diseases
- By developing appropriate public health policies
- By increasing international cooperation in scientific research
- By gaining and sharing scientific knowledge about all rare diseases, not only the most “frequent” ones
- By developing new diagnostic and therapeutic procedures
- By raising public awareness
- By facilitating the network of patient groups to share their experience and best practices
- By supporting the most isolated patients and their parents to create new patient communities or patient groups
- By providing comprehensive quality information to the rare disease community
Breakthrough legislation in favour of rare diseases:
- EU Regulation on orphan Products (1999)
- US Orphan Drug Act (1983)
- Both provide incentives for companies to develop treatments for rare diseases.
Find out more...
Eurordis has published a founding paper on rare diseases: ‘Rare diseases: understanding this public health priority’. To read it click here.
Eurordis publishes the latest figures on rare diseases in a report called The Prevalence of Rare Diseases. This report is published jointly with Orphanet on a quarterly basis.
Rare Disease Day Partners: