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

There’s so much to tell from the American Thoracic Society trip that I’ve decided to tell it in pieces. It’s easier for me to find time to write it, and it’s easier to read online. On Sunday I gave a speech to a session at the conference where various academics and doctors were giving presentations on the role of family in health outcomes. I was the last speaker, which made me especially nervous. In years past, the patient speaker was sort of used to set the stage for the academic discussion. I was a little afraid I’d look like a yutz after all these brilliant people! To add to the stress, my speech this year was very much on the fly. Donna Appell and I were rewriting it even as we sat in the audience. And then my turn came. I got up to the podium and discovered that the light they’d put there so all the other speakers could see their notes in the darkened room was too much for me and glared me out. All I can say is THANK GOD I did three years of debate in high school. Thank you Mrs. B

I’m not going to post much right now because I’m so tired! Tomorrow I’m going to be paying the price for being out of the office for three days, so it might take me a while to update the blog. But, I noticed the blog has been getting some regulars checking in – so just wanted you all to know I’m back from the American Thoracic Society, and it was awesome! We accomplished a lot!

It’s late. Very late. I don’t think I’ll sleep much tonight. My apartment looks like a laundry mat exploded with various articles of clothing, ranging from pants and shirts, to panty hose and bras, dangling from every hook or piece of furniture. I’m trying to get ready to go to the American Thoracic Society meeting with Donna Appell, Founder and President of the Hermansky-Pudlak Syndrome Network, to hopefully educate some new doctors about HPS. Nothing about this trip has gone according to plan. It’s almost 1:00 am and I’m still trying to wrap up things for work (and I don’t think it’s all going to get done.) My laundry is strewn about because we’re not allowed to use the dryers after 10:00 pm in my building. As sure as I put something in the dryer, someone will complain. After work I had to run to the bank, the dry cleaners, the post office, the drug store – and then by the time I got home after all that walking – I accidentally fell asleep until 9:00 pm. So now I’m hoping that some o

This is going to have to be a much quicker comment on this subject than I’d like, but I’m swamped so it will have to do. Many of you that know me have been calling to ask what I think about the current fuss over the character with albinism in the Da Vinci Code. The National Organization for Albinism and Hypopigmentation made the news in a big way these past few days for their public statements bringing attention to the typically negative portrayals of people with albinism coming out of Hollywood. To be honest, it was an issue that didn’t rank very high on my personal radar with everything else currently going on in my life, until, in a moment of curiosity; I surfed the blogosphere and was appalled at pretty much most of what I read from the pigmento world commenting on this issue. (Pigmento is a term coined in albinism-related chatrooms and listservs to refer to people without albinism.) For starters, I think many people completely misunderstood what NOAH was trying to do. It wasn’t ab

Okay, no speech tonight. I just think this is a neat picture. This is a picture of my friend Karen. Regular readers have seen Karen before, but I just love this picture of her with her zoo. Karen, like me, has the Hermansky-Pudlak Syndrome type of albinism. She's very involved with the HPS Network, is the regional coordinator for the HPS Network in her region of the country, and faithfully raises money for the Network, despite her own myriad of health issues. Hey, if any other HPS'ers are reading, and have pics to share, PLEASE SEND THEM!

This is a photo taken at the 2006 Hermansky-Pudlak Syndrome Family Conference. As you can see, we were having a good time! Tomorrow night I’m missing one of the events of the year. It’s killing me because I want to be there so bad. I’ll probably interrupt the festivities a dozen times on my mobile phone, just to feel like I’m not missing out on too much. This week a number of people from the Hermansky-Pudlak Syndrome listserv. are at the National Institutes of Health at the same time. So, a plan has been underway since March for these HPS’ers, as well as several Washington-area locals, to meet up for dinner at the Cheesecake Factory. I can assure you a very good time will be had by all. I warned Kevin, our nurse practitioner, to just leave a standing order for the antacids or the nurses’ station would probably be pestering him all night. HA! Actually I tried to get in on the action by offering myself up for more poking and prodding. I asked Kevin if, perhaps, there wasn’t some sort of

Last night an old friend that I don’t stay in touch with much these days called. He was calling to tell me another long lost friend had resurfaced and relay some old college friend type gossip. This friend has always had a talent for saying the exact wrong thing at the exact wrong moment – so it was no surprise when, completely unaware, he stepped in it once again. I cut him a lot of slack because I know he typically means well. He’s just not talented at picking up the unsaid vibes in life that lead you to know when to say something, and when to keep your yap shut. It’s hard to explain to people, especially people who are really trying, how to be supportive. I think sometimes people say the wrong things because they’re just trying too hard to figure out what to say at all. My tip – listening often means more than any words you could offer. Sometimes the best thing to say is nothing at all. My old friend asked me how recruitment for the drug trail was going. I answered slow, grateful fo

This photo comes from New York Channel 1. Sorry for the quality. This is some of Puerto Rican leadership announcing an end to the political impasse that has left nearly 100,000 people out of work. Puerto Rican Governor Anibal Acevedo Vila and the Puerto Rican legislature appear to have reached an agreement that will have government workers back on the job Monday morning. Thank God! I hope that whatever lead to the shutdown in the first place continues to heal, both for the Puerto Rican people, but also because whatever happens in Puerto Rico has a direct impact on the battle for a cure for Hermansky-Pudlak Syndrome. Fact is the syndrome is most common on the island of Puerto Rico, and thus if things are not going well there, the odds of being able to do outreach and get people to travel to Washington to participate in research to find treatments is hindered. We are in a race to fill this Phase III trial for a treatment for the pulmonary fibrosis of HPS. Getting potential patients to

Pictured here are Julia and Tommy Molter, two kids with HPS. Their local TV station, WANE News Channel 15, in Fort Wayne, IN did a story on them and their family's HPS fundraiser. They are our superstar fundraisers! The story is below. Two Fort Wayne Children Help Raise Money for Rare Genetic Disorder May 11, 2006, 06:15 PM (WANE) Hermansky-Pudlak Syndrome (HPS) is a rare form of albinism affecting only about 300 people in the United States, and two children in Fort Wayne have it. Albinism causes people to lack pigment in their skin, hair and eyes, but not all people who have albinism have HPS. HPS causes vision impairment, a bleeding disorder and can cause the development of deadly disorders later in life. Namely, some people with HPS can get scarring of the lungs called pulmonary fibrosis. Julia, 8, and Tommy, 6, both have HPS, and are legally blind, but that’s not stopping them from being fun-loving kids. Julia’s at the top of her class, plays the piano and wants to be a singe

It looks like the crisis in Puerto Rico could be over – maybe. Yesterday a special commission, agreed upon by both sides, met to hash out a compromise to the stalemate that has pretty much shut down the Puerto Rican government (and our protocol recruitment trip.) They apparently reached an agreement – although the exact details of what they agreed to seem to be lacking in most of the coverage I’ve read. The dispute was partly about a sales tax, but I don’t see anything about a sales tax agreement. As I’ve said before, I’m four generations removed from my Puerto Rican roots so I’m not exactly up on Puerto Rican politics, but that glaring omission has me holding off on my jumping up and down for joy. I guess the several thousand demonstrators today in San Juan agreed with me. They seem skeptical too. But, it’s progress – and it’s hope. I only pray they work it out soon so our friends on the island can return to their normal lives, and so we can get on with the business of filling this dr

Thanks to everyone who’s been asking about the cough. This is going to be brief because it’s late, and I’ve GOT to get to bed. Yes, I’ve STILL got the cough. The allergy medicine seems to help, but as you know, it makes me really sleepy all the time. I was torn about whether I could just put up with the cough and be more alert, or whether all that coughing is perhaps a signal that even if the cough is an allergic reaction, it still might be stirring things up in the lungs, sort of speak. I consulted with a variety of my “medical brain trust” and there seemed to be no conclusive answers. They seem to be split down the middle. So, I’m choosing to take the medicine, even though it really is mucking with my life right now, to try to quiet the cough. It doesn’t completely get rid of the cough – it just makes it less constant. If this situation doesn’t improve by mid-June, however, we’re going to have to pow-wow again.

In hopes of being forgiven for stealing this photo, I'll tell you I lifted it off the BBC Website - which, by the way - is doing a better job of covering the crisis in Puerto Rico than most of the American media. This is a photo (Getty Images) of a recent demonstration march in San Juan. The road to getting the first treatment for the pulmonary fibrosis of Hermansky-Pudlak Syndrome has been a rocky one – and in the past week the newest obstacle is Puerto Rican politics. When I was diagnosed with Hermansky-Pudlak Syndrome almost four years ago my lung forced vital capacity was 85 percent (it’s gone up to 94 percent, well in the normal range, probably because I didn’t know I had asthma and am now taking asthma medications.) When the National Institutes of Health did a CT scan of my lungs, they saw a number of “nodules.” At the time, they weren’t certain if this was the early stage of lung fibrosis, or simply the markings of a few past illnesses – but the prognosis they offered wasn’t

We’re back in business. For any of the HPSers that haven’t heard, or checked your e-mail, the list is back in business. (And a huge weight has been lifted off my head.) But, my advice to any other Yahoo! members is to check and update your account information. Yahoo! seems to have been a bit wonky lately for several people I know. When I was finally able to get into my mail, I had a few e-mails from others who either were having e-mail issues, or groups issues. If I’d ever thought to update my account info, it might have taken less time to get things repaired.

Okay, now I’m getting truly annoyed. Christopher e-mailed me back. I guess the zip codes were acceptable because now he wants the e-mail address I used as an alternate when I set up the account. I’ve already provided that twice through this process – and that will waste another day as he gets back to me. How annoying!!! At least I actually know that peice of information. I've only ever had four e-mail accounts. Two aren't possible, one is the account I can't get into - which leaves only one. This better do it Christopher!

Today I got an e-mail from another customer service representative from Yahoo! named Christopher. Apparently I got the secret question answer right on the second try, but since I missed it the first time, now I’ve got to supply the zip code I entered at the time my account was established. Hmmm…..well, since I was just out of college and moved four times in a single year (subletting apartments while job hunting), I sent him back a list of possible zip codes. I’m not sure if a list will make him happy, but that’s where we stand. In the meantime, I’ve started trying to get the word out on the HPS grapevine about what has happened to our lists. It makes me sick. I always thought if I had my user name and password I’d always be golden – I never even thought to update my account information. Now I’m feeling like a horrible list owner for making such an error. I also miss my HPS friends terribly!!! I called several today, but didn’t get all the way through my list. And, a few of them I’ve go

I heard back from Mr. Joseph at Yahoo! Apparently I didn’t provide the right secret answer. God only knows what I was thinking of a decade ago. So, I sent back a second, remote but possible answer. I had asked Joseph to tell me what my next course of action would be if this didn’t work, but he didn’t supply any suggestions. Sounds like I need to make another call to corporate headquarters and see if anyone will help me.

I am in the depths of a customer service exchange with Yahoo!, the famous search engine and all things Internet mega company. I’m starting to feel desperate. Earlier this week, after nine years with almost no problems, Yahoo! suddenly stopped recognizing my user I.D. and password. Literally, it was like someone snapped their fingers. One minute I was online, checking e-mail, checking up on my Yahoo! Groups etc. I left to go to the bathroom, and when I came back suddenly I was frozen out of my online world. I feel like someone has snapped their fingers and banished me to a desert island with no explanation. I can’t get too mad at Yahoo!, at least not yet. I’m one of the millions that has a free account and thus the level of technical help, understandably, isn’t much. The first day I spent probably two hours trying to figure out how to get any help at all. The Yahoo! help pages are sort of the online equivalent of, “press 1 for x, press 2 for y…” and so on. Of course, none of the canned

As some of you may have noticed, the HPS listservs have not been functioning for two days. The problem is with Yahoo! and we’re working on getting it resolved. Essentially, they seem to have lost my account information – thus while the lists are still there, they aren’t apparently functioning. If this goes on past this evening, I’ll start calling everyone to let them know what’s going on (at least everyone I have a phone number for) however, if you’re part of the HPS community, and you’re checking here maybe in hopes of finding out why it seems I haven’t been online for two days, please help pass the word through the grapevine. I MISS EVERYONE! I"M IN LIST WITHDRAW!