Living on the frontlines

Today went much better than yesterday, and while I’m still tired tonight, I do feel better than yesterday. I think getting a half decent night of sleep and being able to eat today helped. Yesterday NIH just wasn’t its self. Sure, they’re often not on time for things and you’ve got to go with the flow – but yesterday was particularly bad. The computer system was having trouble. I didn’t arrive for a single test where they knew who I was or had orders in to do the test. Every diagnostic appointment ran behind, and I had a long list of tests to do. I didn’t get my blood taken until around 3:30 pm. To make it worse, the air conditioning in the building wasn’t working well. It was so HOT! They were putting fans around, but a little fan doesn’t do much in a huge building. I was feeling pretty out of whack by the end of the day. The combination of no food and drink, it being hot, and all the blood taken, was not agreeing with me. And then there was the pee saga. I have to do a 48-hour urine

Today has been a very long day. Several of you have sent me e-mail over the past few days. Thank you so much for all the good wishes and I’ll get around to answering some of the mail soon. I had hoped I’d have internet access at NIH – in fact had planned on catching up on the blog – but as an outpatient apparently I don’t get such easy access. I have to go to the library, and there’s a waiting list. NIH is definitely much easier as an inpatient – at least from my point of view. Being an outpatient has been a real hassle. I’d blog more about the tests etc. but I’m really, really tired. So, here are a few of the highlights. So far it looks like every test has come back normal except my six minute walk test. The blood work so far has been great. The EKG, Echo etc. were all good. But, the six-minute walk test is a bit of a worry. For this test they attach a monitor to your finger and have you walk up and down the hall as fast as you can for six minutes. I had these clunky shoes on, and I c

I’ve arrived at Ryan’s house and was treated to dinner at the Kabob Palace , a sort of Pakistani (maybe) restaurant down the street from where he lives – very yummy! It’s sort of a last hurrah before being scolded at NIH for my crappy eating habits. Kevin is going to have a fit after last time I swore up and down that my diet overall isn’t that bad, and that yes, I would sign up for weight watchers. The four weeks in between that visit and this one have been horrible though! Work has been crazy trying to get ready to come back to NIH on short notice. I’ve been doing a lot of things for the Network that need to be done and can’t wait, and I’ve had a freelance project going. That means my diet hasn’t been balanced, low cal or anything good. Midwest Airlines, the airline that lost my bag last time I was here, is on its way to redeeming its self. I’m now convinced it’s the ground crew that’s the problem. This time I arrived to get my bag at baggage claim only to find several hundred peopl

Today I had a long talk with Donna, President of the HPS Network, mostly getting caught up on what’s going on, what projects need priority attention etc. In the midst of preparations for fundraisers, budgets, and preparing for an upcoming trip to Washington to speak to Congressional representatives – Donna happened to mention that a family had called in seeking more information. (I never know who these families are – they’re just “a family”). The thing that made this particular call miraculous was that they’d been referred for HPS testing by their doctor! And, even more amazing, not because their child was dripping head to toe with mysterious bruises, not because there’d been a minor surgical procedure turned scary because of excessive bleeding and not because their child was doubled over in pain from GI problems – they were referred for testing just because their child has albinism! That’s it! The doctor was actually screening for Hermansky-Pudlak Syndrome “just to be sure to rule it

It’s Friday night! I can’t tell you how glad I am! No, I didn’t get everything finished I had hoped to finish before I left, but now there’s not much I can do about it until after Labor Day. NIH might not be my idea of a vacation (even if we do call it Club Med.), but I’m just glad to have a week away where no one is going to expect me to do anything. Not that I won’t be checking on things from the road, and not that I’m not packing a backpack full of notes for stories I’m working on, and HPS projects that need to be completed – but I don’t HAVE to do anything I don’t feel like doing next week. This evening it’s raining. I know I’ve blogged about this before, but I LOVE rain. I know most people see cloudy days as gloomy, and perhaps thunderstorms as threatening – but not me! Maybe it’s because on cloudy days I see a bit better. Maybe it’s coming of age in northern Germany where it rains constantly. I don’t know. But, there’s nothing like walking in the rain, feeling the coolness of the

Yet another short post. You all must really be wondering what on Earth I’m up to these days. I bet next week at NIH I’ll have more time for blogging. Right now I’m in survival mode. I’ve had a sinus headache for a week now, and today I’m running a low-grade fever. Neither of these are particularly big problems – but the last thing I need is to show up at NIH sick! I hope I feel better in the morning because I CAN’T stay home from work. I’ve got too much to do before I leave. At any rate, today my “baby” went live on the Web site and is at this very moment making its way into the hands of our readers. I’ve written thousands and thousands of articles at this point in my career – and I’m not saying that this one is the best one by any stretch. But, it has some personal meaning because it’s just after returning from New Orleans that I had my PFT test that showed my lung function at 69. Needless to say, I was a bit distracted while trying to write this. Then, as we were doing the final edit

Tonight I treated myself to a long walk, and surprised myself at how far I was able to walk and not feel too tired – not that I wasn’t all huffy puffy, but still. I walked nearly two miles! It really helps that fall is slowly, but surely arriving and the temperatures are starting to come down. Yes, it’s still hot (mid 90s) but it’s an improvement over the 100 plus temps of the last month. The humidity is also much better. I really do think that helps! Things are super busy trying to get everything at work under control so that I can be gone for a week and not suffer too much. Tomorrow my baby, the New Orleans story, will be posted on our Web site. I FedEx’ed some issues from the very first box that came from the printer to some of the key sources. This afternoon I got a nice e-mail from one of them. As a reporter I’m not out to make my sources happy, but in this case, I was hoping they would be pleased. Everyone worked so hard on making the ALA show a success. I couldn’t help empathize

After having to pester poor Mr. Kevin several times, which killed me because I knew I’d tossed a bunch of extra work on his plate last week, I finally heard from Iesha – the guru of the NIH appointments and travel vouchers. Essentially, I don’t really care what tests NIH wants to run once I’m there, so I didn’t need an appointment schedule until I arrive. I’ve got a pretty good idea what they’re going to want to do to me – and I’ve cleared the week for them. What I was worried about was a plane ticket! Iesha, living the nation’s capitol, probably doesn’t appreciate that there are only so many flights a day that fly direct from Kansas City to Washington, D.C. (Regan Airport). Traveling for business, I know these flights fill up – and if you get caught without a seat you get to spend a day hopping across the country and sitting in really boring airports for hours! Even worse, you might get the dreaded, “middle seat.” But, today my precious travel voucher was entered so Omega Travel could

Just a quick update on a few things! First, those of you that have been using GoodSearch – thank you! So far we’ve had 233 searches done with the HPS Network selected as the designated charity. I know that this search engine isn’t perfect for every kind of search, but if you use it even just once or twice a day, over a year it starts to add up. Also, the big blog ad experiment. So far we’ve made $37.00 on the ad. We don’t get a check until we hit $100, but that’s not bad considering it hasn’t been up very long. About 10 percent of visitors click on the ad. As for me, I’d hoped to write more this weekend, but I’ve had a really, really bad sinus headache. And, frankly, I was a bit run down. I slept A LOT on Saturday! The HPS Network newsletter went to the printer Friday! The Spanish version might take a bit longer. I’m currently working on some marketing pieces for the Molter family fundraiser – and I’m feeling about as creative as a nat. I need to get inspired in a big hurry on that one

A while back I was commenting on a comment Ana had left on our friend Karen’s blog about her feelings regarding having Hermansky-Pudlak Syndrome or HPS. The comments had come from an exchange that took place on one of the albinism newsgroups. It isn’t my intention to comment on that exchange. I wasn’t there. It was in Spanish so I couldn’t have understood it had I been there. But, I did want to comment on the observations Ana made in her comment, and I saved the most serious one for last. It’s the hardest one for me to write about because it’s emotional, which is why I haven’t tackled it during this past week with so many things going on. Ana was expressing frustration with people telling her how to feel, or even worse, criticize how she felt. I identified with that strongly because I’ve been in the same position. Sometimes even the most well meaning people in our lives can say things that make our wounds hurt even more. They see us in pain and they want to make it better. Or seeing us

Just a quick update on Katy. Katy’s home!!!!! They sprung her this afternoon! Yeah! Read about it yourself at www.katysblog.com .

I've been terrible about blogging lately!!! I'll catch up this weekend, I promise. It's just been a very busy week. Our intern went back to school, my boss was out of town, and we had I think, six new HPS families. The blog has had to just wait! But, to tide over the regulars - although many of them have probably already seen this, here's a poem from Sheena about her recent NIH visit. I went to the NIH for a week to stay the vampires came and took all my blood away. The tests that they ran some almost bring you to tears. If I had to get them all done at home It would take me three years. The staff at the NIH are definatly the best. They make sure your comfortable and get lots of rest. Dr. Gahl and Kevin are like the team on CSI. they run all the tests and try to figure out WHY.

One thing I’ve always wanted to do through this blog is share Hermansky-Pudlak Syndrome stories as well as related stories. Sandy, (like Sheena who appeared here a few months ago) is one of those related stories we’re hoping can one day shed some light on these disease pathways for everyone. Sandy doesn’t have albinism, nor does she have a vision impairment. Yet, her platelets are missing delta dense bodies, just like people with HPS. How did this happen? Why is it that she doesn’t also have albinism, not even a slight pigment issue? What else then is causing the cascade of symptoms for HPS’ers? Even though the answers won’t be immediate for Sandy, she believes in getting to the bottom of things and was willing to give up a week of her life to undergo a battery of tests that one day could help everyone. The picture above is of Sandy at the NIH. Thanks Sandy for being willing to do that! The doctors at NIH are sending Sandy’s platelets off to be studied in Europe. Sandy created this car

Those of you who have sent encouraging messages to Katy, please keep them coming! www.katysblog.com

Taking a good chunk of the weekend off is having its consequences. I don’t regret it as I really wanted to see Kelly, and the C. clan, and the opportunity for a ride doesn’t come along that often – but I’m exhausted. I normally catch up on my sleep during the weekend as well as household chores, and I did neither. It’s only Tuesday and all I want to do is put my head down on my desk and take a nap! It’s times like these that I’m glad mom doesn’t live too close. She’d probably have a heart attack if she came in my apartment right now. Heck, she has a heart attack when I’ve spent days getting ready for her! To add to the frustration, Yahoo is giving me fits again. Once again they’re not recognizing my password and I know beyond a doubt that it’s right. (So if you need to reach me, post a message here or send it to me at work.) Before I have a meltdown about it, I’m going to try it from home. Work has been tinkering with all sorts of security settings etc. and it is playing havoc with all

The family that I spoke of in earlier posts wanted to share their story with all of you, and so they’re a mystery no more – they’re Katy and her family! Katy was just diagnosed with Hermansky-Pudlak Syndrome and I’m sure is probably still a bit in shock about it. Katy’s had a rough couple of weeks! But, as you’ll soon learn, she seems to take everything in stride with the help of her faith in God. Her story, unfortunately, is also all too common when it comes to getting an HPS diagnosis. No one was ever aware Katy had this type of albinism until she started to exhibit symptoms just recently. It’s yet another story that illustrates why we need to advocate for more awareness of HPS in the medical community as well as for screening of children with albinism for HPS. Katy’s blessed with a wonderful and supportive family and community of friends – all of whom chipped in to help find the diagnosis, find information about HPS, reach out to the HPS Network and in the end get Katy what she need

Wow! Has a lot been going on! Forgive me for not posting very much this weekend. I went to Leavenworth to visit my friend Kelly and go to her birthday party, and then I stayed overnight to spend some time with Christian, Annette and the kids. Christian brought me back this afternoon, but then I had to get some hours in for work since I was a little distracted on Friday. I felt like I owed the magazine some time, especially since I’ll be going to NIH soon. I still haven’t heard anything about arrangements for that trip, but I’m not surprised. The department that makes all the appointments and travel arrangements is a bit overwhelmed right now. I know they’ll work it out – and frankly, I don’t even care if I see a schedule of appointments. Once I’m there, they can run whatever test they feel they need as far as I’m concerned, so why fret about the details. As long as I get a plane ticket, I’m a happy camper.

This evening I got a call from one of the Network’s regional coordinators and she shared a story that just has my blood boiling. In her outreach work, she’d found a new person who has pretty much all of the indicators for Hermansky-Pudlak Syndrome (HPS). So, the information about HPS testing was passed along and the new person immediately made an appointment with her doctor and took him the information. The gold standard test for HPS is a blood test, but the blood is sent to the University of Minnesota to be viewed under an electron microscope by an expert. Arrangements have to be made to ensure that someone is in the lab to receive the blood sample when it’s sent. The doctor’s response, “I don’t have time to do this. HPS is rare, and you probably don’t have it.” I could just scream! I might be irritated, but could at least get my head around his response, if there were no history to back up the suspicion. But that isn’t the case – yet a whole battery of other tests are being done. The

Today was quite a day. I’m usually on the edge on Thursdays because my newsletter goes out at work. Our intern has been helping to put it out all summer, and I got spoiled. Today was the first day I had to do it myself. We were down three news stories, and NOTHING was going on. Then, in the midst of everything I got a call from Sue at the Hermansky-Pudlak Syndrome Network. Donna’s on vacation and Sue wanted to ask my opinion about what to tell a family that had called in for some help. I only know the sketchy details and even though I don’t even know the names involved, I’m not going to get into it as we go out of our way to respect privacy and HPS’ers don’t appear here unless they’ve approved it. My best advice, by the way, was to call Kevin at NIH. But, the situation reminded me so much of what our family went through back in 1993. Mysterious symptoms that don’t seem to get better. Lots of poking and prodding as the doctors try desperately to figure out what they’re dealing with, and

One of the popular events at the American Library Association show was the World Championship Bookcart Drill Team Championships. This was a very serious event! There's even a book on the rules, and tips for bookcart drill teams. Essentially, many librarians organize these teams, which do dance routines with bookcarts to music, to promote literacy. They often perform at local parades etc. This was the second place team (although their costumes were definately the most camera friendly!)

Last night Blogger wouldn't let me upload these images, so we'll have a few photo posts. For those curious to see what the Ernest N. Morial Convention Center looks like today, after seeing all of those images on CNN - here's the entrance area.

The American Library Association show attracts a number of high profile, V.I.P speakers. That’s typical for the show, but what was different this year were the ongoing themes. Each speaker had to weigh in on their perspective being in New Orleans after Katrina. Two really stick out for me – Laura Bush and CNN’s Anderson Cooper. The first lady had once been a school librarian herself, thus at the ALA show she was in some respects back on home turf. Because of her librarian background, Bush had a special place in her heart for ALA’s efforts to help Gulf Coast libraries rebuild. She gave a moving speech, and then a video presentation, full of stories from librarians in the affected regions against the backdrop of their devistated and molding collections of books. The first lady told one story relayed to her by an elementry school librarian from Mississippi. This particular librarian was always impressing upon the children the need to take care of their library books. She must have done a

Note: This is completely off topic, but as we've been getting the magazine to press today, I don't have time to finish my thoughts on Ana's post. Stay tuned - but for a nice break from HPS, here's the rest of the blogs about my New Orleans trip. I wrote them, and then didn't get around to posting them! After several long days at the show feeling a bit like a vulture as I hovered over the ALA convention staff, I made it a point to walk every part of the French Quarter. The Quarter hadn’t flooded during the storm and thus it was pretty much as it had always been. The places most heavily trafficked by tourists were the same as always. The bars never seem to close on Bourbon Street, and the artists still display their work on Jackson Square. The sourvenior shops still push strings of beads, an endless variety of hot sauces but perhaps the T-shirts were a bit more creative than in years past. The selection of post-Katrina T-shirts was halarious, although perhaps not fit

In no particular order, Ana’s post brought up another issue that sometimes is a hard one for me – to test or not to test. Sometimes when doing outreach in the general albinism community I feel like the specter of doom. Here are these families that have been through the shock of having a child with albinism, come to realize that albinism generally isn’t that big a deal – and then I come along. Or, someone who’s gone their entire life thinking they had one sort of albinism because some geneticist made a diagnosis based of physical appearance, and then later in life they begin to develop other health issues – and here I come. I really don’t know how Donna’s done it all these years! But I do it because I know how important it can be. I hope that one day screening for HPS is part of the standard workup for any child born with albinism. Most will test negative for it, but the few that test positive will be spared some of the dramas we’ve seen unfold at the HPS Network. Take, for example, the

Meet Ana! She's the author of the quote in the previous (and following) posts. I actually have a much better picture of Ana with her daughter, but I can't seem to locate it. I think it might be on my computer at work.

This week I was reading my friend Karen’s blog, www.myspace.com-karenshpskorner , and was touched to find that she’d been blogging about me. I was also profoundly struck by the comment left in response to Karen’s entry by another HPS friend, Ana. I e-mailed Ana and asked if I could put her comment here, and she agreed. So, here it is. “I agree with you wholeheartedly, but when I have expressed some of these feelings in the past, I meet with resistance to my feelings. Recently, in another group, I happened to voice many of those feelings only to be told not to feel that way. I especially detest the comment "I'm proud and happy to have albinism". Even though not every person with albinism necessarily has HPS, I still hear "I'm happy to have HPS"...how could this be? I don't hear anyone saying "I'm happy to have cancer". How could anyone ask me not to feel this way? They are in fact asking me to be in denial then. How can anyone ask me not to

The following article ran in the June issue of LATINA Style magazine. It features the HPS Network's own board member, Nancy Lee. Go Nancy! (The paragraph breaks may not be as the article appeared. It transfered as a solid block of text, so I did my best.) Anything is Possible: Latinas with Disabilities Making It Happen A vision impairment made it difficult for Nancy Suarez Lee to drive to work every day, so her husband worked it into his schedule to drive her to the office. The only trouble was that his work hours were different from hers. Fortunately, Lee’s employer, Verizon, was willing to accommodate a schedule change. In addition, Verizon has provided her with special computer monitors, screen reader software, and other equipment she needs to do her job. When she travels, Verizon does not hesitate to pay for car services or taxis.Thanks to her initiative and Verizon’s support, Lee moved during the past nineteen years from an entry level clerk position to her current job as dire

The Hermansky-Pudlak Syndrome Network (HPS Network) is now a recognized charity on the Goodsearch search engine. If you go to www.goodsearch.com and enter “HPS Network” in the charity section, every search you perform will earn the HPS Network a penny. Who says pennies can’t change the world! Think about it. We’ve got more than 500 families in the HPS database. If every family performed four searches a day, we could raise $7,300 in a year. Now, think about what would happen if every family recruited another three or four families, and they all did two to four searches a day. It adds up, but only if you use it. I’ve been experimenting with the site while waiting for our approval to come through. The site uses the exact same search engine as Yahoo – they’re partners in fact. So, anything that would come up on Yahoo! will also come up on Goodsearch. Hey, everyone that’s been online for a nanosecond has done an internet search. It doesn’t cost you a dime. We’re getting paid for something

It’s lunch time, and I should be working through lunch. But I can’t concentrate very well anyway. I can’t stop thinking about the drug trial. As we’ve done outreach for this trial, several people have declined the opportunity to participate, and several others have been turned down for various reasons. A decision like this isn’t a small one. For starters, it’s a huge responsibility and a huge time commitment. Once admitted, failure to stay in the trial and show up for the appointments at NIH would mean that the data would have to reflect you as dead (even if you just dropped out). Thus, if anyone gets into the trial, and then doesn’t comply, it hurts everyone with HPS hoping for this treatment. You’ve really got to be willing to sacrifice for the greater good of everyone with HPS. Second, no one knows what the long term effects of this drug might be. I know several HPS patients in the earlier studies who are doing quite well, but it’s still experimental and thus some of the risks are b

This photo is a little blurry, but it's from my trip to Washington. From left to right we've got Matt, Kristie, me and Ryan. Three of us have Hermansky-Pudlak Syndrome, and Kristie has a different type of albinism. We all know each other from the HPS conference. Ryan and Matt have been sharing a house this summer. It was great to see everyone!