About rare diseases

Rare diseases affect a much higher number of people than we realise. That’s why I’m convinced that building a strong rare disease movement across the globe is so important.

Here’s some information I’ve taken directly from the website of EURORDIS, the European Organisation of Rare Diseases:

A disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000. One rare disease may affect only a handful of patients in the EU, and another touch as many as 245,000. There are between 6,000 and 8,000 rare diseases. On the whole, rare diseases may affect 30 million European Union citizens. 80% of rare diseases are of genetic origin, and are often chronic and life-threatening.

Characteristics of rare diseases

• Rare diseases are often chronic, progressive, degenerative, and often life-threatening
• 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.
• 50% of rare diseases affect children
• 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