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Reaching out!

I’m so excited I could just bust. For two years I’ve been reading about people with Hermansky-Pudlak Syndrome in Japan in the medical literature. Several years ago I found an article in a Chinese journal that made reference to 300 people with HPS in Japan in the abstract. The abstract, however, was the only part of the article that was translated into English. I e-mailed the author to ask how he knew about these 300 patients, and never got an answer.

Then two years ago I read another journal article by a doctor in Japan that said in the abstract that HPS was the second most common type of albinism in Japan. Again, I e-mailed and never got an answer.

It’s been bugging me for years. Somewhere in Japan I knew there were people with HPS, but I had no way to reach out and find them. Were they organized? Did they know they had HPS? While HPS is rare in Japan as well, there are clearly more than two or three people affected there.

So, every few months I’ve surveyed the internet for HPS medical journal articles by doctors in Japan, then tracked down the doctors’ e-mails and hoped that one day someone would answer me and tell me about this group of people with HPS.

While I was away at ATS one of the doctors finally answered. He sent an e-mail in perfect English confirming that there are indeed a number of people with HPS in Japan, and they’ve got their own patient organization! The scary thing is I almost missed the e-mail completely in the several hundred I got while I was away. I almost deleted it!

I sent the information to Donna. She immediately sent an e-mail to their director. We’re waiting to hear back. I can hardly stand it. I knew they were there!
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Care said…
Wow - great job researching and reaching out!
9:26 PM
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