Author: Alan Beggs

Rare diseases are not rare — and treatments are coming

Eight percent of Americans name apples as their favorite fruit. About 5 percent of the world population owns a computer and 7 percent are on Facebook. Nine percent own a car. Only 2 percent of adults are natural blondes.

Yet 10 percent of people on this planet have a rare or “orphan” disease. In the U.S., that’s almost 30 million people.

Approximately 7,000 medical conditions have been identified as “rare” – defined by the Orphan Drug Act, passed in 1983, as affecting fewer than 200,000 people in the U.S. Some of these are relatively well known and well studied, such as sickle cell disease or amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease); each affects roughly 30,000 patients in the U.S. Others – like multiminicore myopathy, Diamond Blackfan Anemia or galactosemia – you’re unlikely to have heard of, because they affect only a few hundred or thousand people.

Most of these diseases affect children, often from birth, so at pediatric hospitals, patients suffering from something rare and understudied are actually very common.

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