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Hermansky-Pudlak Syndrome featured on Mystery Diagnosis

Last night was a big night in HPSland. Our own Karen Tillman's diagnosis story was featured on the popular Discovery Health show, "Mystery Diagnosis." It was emotional to watch because I know Karen very well and because we share these HPS experiences. The entire HPS community is all a flutter with excitement and expectation about what this show might mean for us.

That might seem strange to an outsider. But for us, the exposure could mean so much. It could mean that someone out there affected by HPS gets a diagnosis. While we'd never wish for anyone to have HPS, having it and not knowing can have terrible consequences, as you saw in the show. Had the doctors known and understood HPS, they might have treated my case differently, and perhaps Karen's too - who knows. For us, it's neither here nor there - but for people who are sick now, it could make all the difference in the world. We're also hopeful that maybe the show planted a seed in some doctor's brain out there. Maybe years from now he'll see a patient with HPS and remember something, just enough to know to go look something up.

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