Stephanie Okey, the head of Genzyme’s rare disease business in North America, likes to tell the story of a patient who came into the company’s Allston manufacturing plant recently to talk about living with Gaucher disease. The middle-aged woman was, oddly, “thrilled” to have been recently diagnosed with the disease, a life-threatening, inherited condition which affects less than one in 50,000 people. The reason is her doctor previously told her she must have cancer head to toe, the only explanation he could find for what was causing her organs and tissue to malfunction. It wasn’t until she finally found a specialist with knowledge of rare diseases that she got her diagnosis, allowing her to begin taking Genzyme’s drugs to treat it.
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