History of rare diseases
The European Union defines a disease or condition as ‘rare’ if it affects fewer than 1 in 2,000 people within the general population.
Currently, there are ~7,000 known rare diseases worldwide, according to the National Institute of Health (NIH). Of these, ~95% have no treatment. However, a large number of rare diseases are still unknown as they are not being researched nor allocated funding, because the number of people affected is small compared to more “profitable” conditions, such as diabetes. In fact, rare diseases only receive about 1% of all funding from the 4 biggest funding bodies in the United Kingdom. Consequently, patients with rare diseases and their families often experience significant stress and uncertainty regarding diagnosis, prognosis, and treatment. On average, it takes 4 years for a patient to be diagnosed with a rare disease.
Although rare diseases affect far fewer people, they often manifest as very severe forms of common diseases and collectively affect a larger population, causing a devastating impact on their quality of life.
As well as promoting awareness of these diseases, and encouraging pharmaceutical companies and medical professionals to invest and conduct vital research, it is important that as medical writers, we support these initiatives and through our medical communications materials and regulatory submissions, advocate for the people who are living with these rare diseases.