Today is Rare Disease Day, so let’s raise some awareness. First and foremost, let’s keep in mind that when taken together, rare diseases are not that rare at all, according to the National Institutes of Health. A rare disease in the United States is defined as one that affects fewer than 200,000 people. But there are nearly 7,000 rare diseases, and approximately 30 million Americans (or 1 in 10) have one of them. Europe has about the same number, according to Globalgenes.org. Other facts:
Eighty percent of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear.
Approximately 50 percent of the people affected by rare diseases are children.
Thirty percent of children with rare disease will not live to see their 5th birthday.
Rare diseases are responsible for 35 percent of deaths in the first year of life.
The prevalence distribution of rare diseases is skewed — 80 percent of all rare disease patients are affected by approximately 350 rare diseases.
During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined.
The good news is that genomic testing offers hope for diagnoses and treatment, since the vast majority are genetic in origin. But difficulty in getting a diagnosis in the first place remains problematic for many rare disease sufferers. The slogan for this year’s Rare Disease Day is “Join us in making the voice of rare diseases heard.” Patients and their families often feel isloated. The good news in this area is the Internet, which allows researchers, doctors, patients and families to connect in ways never before possible.
One example is the non-profit Rare Genomics Institute, which, among other things, will help families pursue personalized research projects for diseases not otherwise studied, and provides an online platform for fund-raising for families to pay for the sequencing. The National Institutes of Health runs the Rare Diseases Clinical Research Network, which is designed to advance medical research on rare disease. It’s composed of about 2,600 researchers from multiple disciplines at hundreds of clinical sites around the world. The NIH’s online Genetic and Rare Diseases Information Center provides accurate, up-to-date information about ongoing research, symptoms, treatment options and other details.
The motto of the National Organization for Rare Disorders is: “Alone we are rare. Together we are strong.”
Help make the voice of rare diseases heard.
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