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An HPS epidemic

One of the most common questions we get asked is how many people are affected by Hermansky-Pudlak Syndrome. It sounds like a simple question, but it’s not. The problem is we could tell someone how many people we have on the patient registry. We could tell them how many people we estimate are affected in places like Puerto Rico and Japan – but really these numbers would be somewhat misleading.

HPS is so rare that I firmly believe there are people walking around with HPS, possibly even very symptomatic, who have no idea they’ve got HPS. They know they have pulmonary fibrosis, or colitis and that problem is likely overshadowing their lives. Who cares about albinism when you can’t breathe?

I don’t mean to say I think HPS is common, but I also don’t think it’s as rare as our numbers might suggest.

This past week helps to prove the point. On a single day last week we had five new families register with the Network. Count them – five. And that’s just in one day, albeit not a typical day.

These are families that, for the most part, are finding us all on their own. How many are out there that haven’t thought to check out if their other health problems have any relationship to their albinism? It’s not the sort of thing that would occur naturally to most people – even to doctors.
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