Even though an estimated 350 million people worldwide live with a rare disease, individuals afflicted by these disorders are often overlooked.1 In some cases, they may be one of only a handful of individuals affected by a disease. What may come along with this rarity is a sense of isolation and the feeling that others don't truly understand their plight.
The journey to a rare disease diagnosis alone can be arduous. On average, it takes more than five years to obtain a rare disease diagnosis, often due to limited professional knowledge of the signs and symptoms.2 Also, forty percent of rare disease patients are misdiagnosed at least once.3
Rare diseases present serious public health challenges, due in part to the limited research exploring these disorders.4 With greater awareness comes more action – most often, in the form of research into the diseases themselves that ultimately may lay the groundwork for new treatments.
As part of the rare disease community, our role is to raise awareness of these disorders, and to deliver life-changing therapies to patients who have few, if any, treatment options. We are working to fill a significant void when it comes to treatment. All told, there are approximately 7,000 rare diseases, yet only five percent have FDA-approved treatments.1
Raising awareness of rare diseases may increase testing and childhood screening that results in more accurate and timely diagnosis, as well as inspiring necessary scientific breakthroughs.
Giving patients a chance, providing hope, is what drives us.
- Global Genes. Rare Diseases: Fact and Statistics. Available at: https://globalgenes.org/rare-diseases-facts-statistics/. Last accessed July 28, 2016.
- Engel PA, et al. Jl of Rare Dis 2013;: Vol. 1, Issue 2.
- EURORDIS. EURORDISCARE2 Fact Sheet. Available at: http://www.eurordis.org/IMG/pdf/Fact_Sheet_Eurordiscare2.pdf. Last accessed: July 28, 2016.
- Valdez, et al. Centers for Disease Control and Prevention. Prev Chronic Dis 2016;13:150491.