What is a rare disease?
Rare diseases have a low occurrence rate, but how low depends on how a particular country or region defines ‘rare’. For example, in Europe a rare disease is defined as one with a prevalence of less than 1 in 2000 people, in the Unites States as one that affects less than 200 000 people, and in Australia as one with a rate of 1 in 10 000 people.
Why focus on rare pediatric diseases?
There are between 7000 -8000 rare diseases, depending on which source you site. Collectively this means that approximately 6–10% of the population is affected, meaning that although each disease is rare, having a rare disease is not. And there are many ways that a rare disease differs from more common chronic diseases including the amount that is known about causes and treatments, the amount of money and people dedicated to research on a particular disease, the amount of teaching one has to do to medical personnel and the fact that one person may never meet another person diagnosed with the same disease.
As an example, approximately 25 million people in the United States have any one of the nearly 8,000 rare diseases. By contrast, nearly 21 million people are thought to have diabetes.
