Stephanie Okey, the head of Genzyme’srare 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.

“I think that story is a failure. She’s 55 years old, and is just getting diagnosed. She was born with this condition,” said Okey in a recent interview in the Kendall Square offices of Genzyme, the state’s largest biotech firm by employment, which is owned by French drug giant, Sanofi.

For Okey, the story illustrates one of the biggest problems her company — one of the world’s largest focused largely on rare diseases — needs to overcome. With some 7,000 rare diseases now known to the medical community, only a handful of doctors are trained and equipped to diagnose them. The stories Okey hears of patients trying to figure out what’s wrong with them usually involve years of doubt and frustration as they are bounced from doctor to doctor.

And while the number of rare disease specialists is currently low — Okey says it’s in the dozens, not the hundreds — it’s only going to get worse as many of the current ones retire, and fewer medical students enter the field of genetics with the intent of working directly with patients.

“I see two big problems that really haven’t been talked about in the media or anywhere,” said Okey. “It’s one of the biggest challenges that we face – physicians’ lack of awareness. And frankly, we have a declining base of individuals that know about these disorders.”

The average age of diagnosis for patients with the two largest diseases for which Genzyme makes drugs — Gaucher and Fabry — is in the mid-30s, said Okey. Part of the problem is lack of awareness about the diseases, and that’s where Okey sees her job. “We don’t technically sell drugs. We raise awareness, and the therapy is available and becomes obvious.”

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