Living on the frontlines

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 medica...

I’ve just got to take a moment to thank everyone that’s been coming to read our stories. To be honest, I’m having a ball blogging. It’s way better than a diary. First, I get to type, which I can do way better than handwriting. Second, I get feedback! Third, this is way cheaper than therapy! Sighted people often play a game where they keep track of the license plates they’ve seen on the road. The more obscure, the better. I’m getting to be the same way about new visitors to the blog. I’ve installed this counter which allows me to see how many people are reading, how many are return readers, and how long readers spend. The counter is somewhat flawed in that there are people that I know are reading, yet I never see their ISPs on my reports. Or, there are people who talk to me about what they’ve read, so I know they’ve spent some time, and yet my reports don’t reflect that. Then there are many ISPs where I’d have to do some research to figure out who or where they are because all it says i...

I’m feeling really frustrated right now. I’m going out tonight to a friend’s house to socialize with a bunch of other people – something I really need to do I know – but I don’t feel like I deserve it. I have been such a lazy butt this weekend! It’s this damned allergy medicine! (Coupled with existing fatigue issues of course.) It didn’t seem as bad when I was in San Diego with Donna, but I think that was because there was someone around talking to me and offering stimulation. Left to my own devices, I seem to sort of zone out and before I know it hours have passed. This morning I got up, got dressed for church and was ready to go. There were about 20 minutes before time to leave, so I made the critical error of sitting down. Next thing I knew it was almost noon and Aunt Sheryl was calling on the phone. Thank God! Who knows how much of the day I would have wasted! I fixed myself something to eat and then got online and spent an hour on HPS-related tasks – checking the newsgroups, answe...

Blogger is being wonky so I couldn't get this in the same post. In case you're wondering what a scientific poster session is, here's a picture of the HPS Network scientific poster. Imagine several thousand square feet of exhibit hall space with row after row of bulletin boards and poster after poster summing up the results of experiment after experiment. Yep, it's a science fair for grown ups without cool models that explode or do things. The brochures, of course, we can get away with because we're patients. Ha!

Okay, I must confess - these pictures are from last year. But, to be honest, since the show was in the exact same place, everything looked exactly the same. The only difference is we had more pictures in the booth this year, and black chairs. So, just pretend like they're from this year! This is the HPS Network booth at the American Thoracic Society.

The main objective of attending the American Thoracic Society meeting was to promote awareness of Hermansky-Pudlak Syndrome (HPS). It was basically an exercise in the art of schmooze, and we’re damned lucky to have Donna Appell schmoozing on our behalf. I am constantly in awe of all that she does for HPS, and of all that she has accomplished for us. For those readers from outside the HPS world, Donna Appell and her husband Richard founded the HPS Network in 1992. Their daughter, Ashley, has a particularly severe case of HPS. She developed colitis at the age of three and has spent her life in and out of hospitals – both for care and to promote research. When Ashley was diagnosed with HPS, it’s estimated there were only 25 documented cases outside of Puerto Rico. Today we’re in the 400 range, I think (not counting Puerto Rico). There are likely far more because HPS is commonly never diagnosed, or misdiagnosed as Crohn’s disease or idiopathic pulmonary fibrosis. The Appells received their...