Hacking On Health: Open Source For The Rare Disease Community

Rare diseases are defined as as those afflicting populations of less than 200,000 patients, or about 1 in 1,500 people. There are about 7,000 rare diseases, the majority of which are genetically related and commonly affecting the very young (infants). At first glance, rare diseases seem to only affect a small number of people, but in reality their aggregate impacts close to 30 million patients in the US, and about 25 million in the EU alone. This impact also extends to the millions of caregivers and families, who also feel and live with the disease, just in a different way.

A large part of the struggle too exists outside of the disease itself. Due to the nature of rare diseases, there is a great lack of information about them to answer questions related to the cause, the treatment, and the prognosis. On average, a patient visits eight different physicians over a period of 7.5 years before arriving at a correct diagnosis (of their rare disease).