Living on the frontlines

I haven’t had too much ostomy trauma in a while, so I guess I’m due for a dose. This evening I went to the Tuesday night service at church. I like it much better than the Sunday service, and I’m usually much more awake. Grin! But, this week Pastor Pat was out of town, and so we were left to watch a video. It was actually quite a good video. It was the story of the crucifixion from the point of view of one of the Roman soldiers. The trouble was we were watching it on a TV perched on top of one of those tall TV carts they use in schools. I couldn’t see a thing. One of the ladies sitting in the front graciously offered me her seat and I accepted it. As the movie started, and I was trying to watch it with my monocular, it became clear this wasn’t working. The monocular was getting a lot of glare from the screen, and there’s no way my arm was up to holding the monocular up to my eye for an hour. So, never being afraid to reposition myself as needed, I pushed a chair right up in front of the...

I’m losing it. I feel like I’m living in a college dorm with a bunch of teenagers. My next door neighbor, a guy in his 40s, recently invested quite a bit of money in a large TV, with large speakers, and then a large sound system which he apparently has now wired throughout his apartment. The problem is this is an old building. No one apparently knew what insulation was when it was built. Whatever he does for a living, he does from home. (I think he’s in sales of some kind.) When I’m working from home our studies or extra bedrooms back up to one another, and I can hear him on the phone. He can hear me too – and sometimes we talk through the wall. Given this fact, you think it would have occurred to him that his new sound system might be problematic with the neighbors. Apparently not, however. At any time, day or night, the TV or the stereo goes on and no matter what I’m doing, I can hear it. I can’t sit and watch a TV show in my own living room without this base going. I can’t sit in m...

Every year the HPS Family Conference has a theme, and usually there's a theme song. Candice and Crystal Sipe suggested this year's theme song - and the lyrics couldn't be more perfect for the HPS Network. Isn't it funny how sometimes you can find a song that has nothing to do with what you're thinking of, and yet the lyrics match so perfectly? I've been wanting to add a feature to this blog that would allow me to feature audio files - but I haven't been able to find a way to host music without major copyright headaches. So, I can't post the song - but as many of you know, there are ways to find such things online. Check out this song. Artist: Richard Marx and Donna Lewis Lyrics Song: At the Beginning We were strangers Starting out on a journey Never dreaming What we'd have to go through Now here we are And I'm suddenly standing At the beginning with you No one told me I was going to find you Unexpected What you did to my heart When I lost hope Yo...

There are some days, like today, that I want to shout to the universe – enough! We need to cure this disease, and we need to do it now! Today was a great day actually. Work decided to move our magazine press deadline back to Friday. We share an art director with another magazine, and the other magazine was late getting to press so he hasn’t even started to do layout for our magazine. That took some of the pressure off of me too. It means that I feel pretty confident I can get everything done next week without too many late nights. It also meant I didn’t bring home much work. Yes, I’ll probably log onto the work server Sunday night and get my ducks in a row so I can hit the ground running Monday morning – but I haven’t spent the entire weekend fretting about the magazine. That meant I could concentrate on fretting about HPS issues. Grin! The HPS Network is selling Christmas CDs this year as a fundraiser. I know how important fundraising is to us – and how desperate we are for funding. B...

This past week was the two month anniversary of my being in the clinical trial to investigate the use of Pirfenidone to treat the pulmonary fibrosis of the Hermansky-Pudlak Syndrome type of albinism. Yeah! I’m doing great. I’ve had a rough month with a bit of stomach flu and ongoing sinus troubles – but I don’t think either of those is related to the study. They’re more like annoyances. My stomach has been a bit more sensitive, it seems, since starting the drug trial. The first four weeks I had pretty much non-stop diarrhea. As soon as it would start to improve, it was time to up the dose and the runs would return. Now, that is much improved, but I find my stomach is very sensitive to eating any veggies or fruits. Eating an apple or a salad pretty much brings back the runs. So, I’m having a little trouble eating a completely balanced diet – but it isn’t too bad. It seems like I’m eating a lot of meat and dairy. Actually, I ate a salad yesterday and it wasn’t too terrible. I don’t get c...

Donna Appell, Founder and President of the Hermansky-Pudlak Syndrome Network, has been busy these past few weeks too! I know everyone knows Donna works hard, and that we all appreciate her – but sometimes I wonder if everyone realizes just how hard she works on our behalf. Not only is she caring for Ashley and her two elderly parents, but in the past two weeks she’s been hop scotching across the country to attend various medical meetings of critical importance to keep the research on HPS going. First she was off to the public advisory meeting for the Heart, Lung and Blood Institute at the National Institutes of Health. You would think that since HPS is mostly a blood and lung disease, we’d be a natural fit with this institute. But, actually, our cause was taken on years ago by the genetics branch at NIH. Even so, as our research grows and our drug trials continue, we need the attention of the Heart Lung and Blood Institute. Serving on a public advisory board not only gets the name of H...

Thanks for all the well wishes and sweet e-mails. I am feeling better, but very, very tired. That’s party why I haven’t been posting. The medicine I’m taking to help the sinus issues makes me groggy, and when I’m not feeling groggy I need to be focused on my job right now. The magazine goes to press next Wednesday, and the pressure is heating up. If I can just get through tomorrow okay then I can at least get my battery recharged over the weekend. It’s going to be another HPS weekend. There’s lots to do to get ready for the conference. The invitation letters to the doctors need to go out ASAP, so I’m helping out with that. There are a number of other things too. I need to follow up with the doctor in India as he should be back in his office. I’ve got quite a list. Grin!

This is going to have to be another quickie! I know, I keep saying that! I’m in the midst of writing a feature at work and writing a long feature doesn’t mix well with daily breaking news. It seems by the time I get all the crisis stuff resolved for the day, the day is just about gone and I’m still behind on the feature. Also, I’m getting a cold so if I seem a bit out of the loop this week – I’m feeling really tired, running a low grade temp, have a sore throat, runny nose and my joints are acting up. So, I might opt for rest and work over blogging a bit this week. I did want to give a quick shout out and kudos to the DelVecchio family however. They raised more than $1,000 for the HPS Network with their recent garage sale. Now think about that for a minute. How much stuff would you have to sell at a nickel, dime and quarter to raise $1,000? Well, the DelVecchios, who have co-habited with this collecting pile of stuff in their garage, attic and on their back porch for the past few month...

As many of you know, the Hermansky-Pudlak Syndrome Network is one of the charities at www.goodsearch.com . This search engine runs off of the same search engine that powers Yahoo! and for every search done with the HPS Network selected as the benefiting charity, we get a penny. Just a penny you might say? Pennies add up fast. Last night we hit the 1,000 mark on searches done on behalf of the HPS Network. Granted – this is hardly a big pile of cash. It’s $10. Yet I see potential in this very, very simple fundraiser. How long does it take, after all, to do two searches a day on a search engine, even if you don’t even really want to find anything? Surely there must be something you could look up on any given day? It’s something anyone with internet access can do for HPS in less than 30 seconds a day. And those pennies would add up if everyone helped spread the word! Think about it. If we could get 100 people to do two searches a day, we’d earn $730 in a year. That could cover a hotel room...

This evening I went out to eat with some great friends: Tina J, Tina B., Echo and Karen. We went to the California Pizza Company, which if you’ve never been, is GREAT! For all I know they’ve been open on the Plaza for a while, but I haven’t been to the Plaza in a while. It’s the same chain where we celebrated my being accepted into the drug trial back in August. (A shout out to the Washington HPS crew and Donna Rose!) The menu has a little bit of everything from Southwestern to Asian influenced cuisine. It was also really nice to get out of the house. Last night I tried to go to Homers and escape for a bit – but when I got there the band was really rocking! Perhaps a little too rocking….am I getting old or something? I still need my eardrums, thank you very much. So, I got my weekly treat – a chai latte, and came home. This weekend has been HPS weekend. I’ve already been working on the next newsletter, a few special requests from HPS’ers and I was doing some of my journal reviewing. Ho...

In the last two weeks I’ve run into a few HPS’ers looking for a doctor, and so thought I’d blog briefly about doctor hunting with a rare disorder. It’s a chore, let me tell you! If you’ve got a rare disease, even if you’re relatively healthy at the moment, you can’t simply front at the neighborhood doc-in-the-box family clinic and expect to always find what you need. Nope. Fighting Hermansky-Pudlak Syndrome is a war, and when you’re fighting a war, you choose your generals carefully. It’s a task that requires lots of forethought and frankly, strategic planning. (hmmm….memo to George W. on that one.) I can’t promise my methods would work for everyone. Perhaps one of the biggest perks of my job is great health insurance that allows me a little latitude to doctor hunt and take a few out for a “road test” of sorts. The first thing I looked at is which area hospital I’d want to be at in the event something major happens. I read up on the local hospitals. I live in suburbia, and have three h...

I think most of the regular readers are also following Katy’s blog. But, for those who aren’t, Katy is still in need of our prayers. Sometime this weekend she’s expected to be transferred from the hospital in Roanoke to the University of Virginia. Katy’s case has been a tough one to figure out. She has strong reactions to the medications, and I suspect may be experiencing some secondary complications to HPS (although I don’t know – I’m not there.) I hope the doctors there are able to nail down what else might be going on, if anything, and take care of it so Katy can get back to her normal life. I’ve wracked my brain about who else to consult, what else to try etc. I’m always exceedingly careful to not give medical advice (other than my own experience, which I stress is only that.) I’ve done medical literature searches, gone through my list of contacts and I haven’t come up with anything. I’m not a doctor, and we HPS’ers are not all the same. Some have a mild colitis that responds well...

I’ve featured some things from the Genetic Alliance here before – okay I’ve featured a lot of things from the Genetic Alliance lately. And, here I go again. Right now on the opening page of the Genetic Alliance Web site you can view the Leadership Exhibit. This was an exhibit honoring some of the world’s leading genetic disorder advocates. Each and every honoree is amazing and could be the subject of a book in their own right (and boy would I like to write that book! Don’t even get me started!!!) The exhibit includes some of our favorite leaders in the Hermansky-Pudlak Syndrome community. Crystal and Candice Sipe were honored in the exhibit, as were Donna and Ashley Appell. There are also honorees you might know from the National Organization for Rare Disorders (NORD). The Web site version of the exhibit is a little hard for me to read. They plan to feature an advocate every few weeks on the page, but when you click through to see the panel, it’s hard to read. Well, then again, I’m leg...

Today started off a little rocky. I’d been trying to retrain my body on a new schedule so that I’d go to bed a bit earlier, but then wake up earlier and get into the office before anyone else. I can’t stay late because there are no late buses, but I can get into the office as early as 7:00 am. And when I do that, I’ve got a chance to get organized, get a jump on the day etc. before my phone starts ringing and the chaos begins. Well, that plan was a big failure. I’m a night owl. No matter how early I try to go to bed, and how early I get up, I can’t fall asleep before midnight and getting up before 6:30 am just seems inhumane! When I try to adjust this, all that ends up happening is I don’t get any sleep – and then I get sick. So, last night I trashed the new schedule plan and didn’t set my alarm to go off until 7:00 am (into the office around 8:00 am.) Ahhh….yes, seven hours of blissful sleep. Sometime around 5:00 am I woke up, had stomach cramps, and puked up whatever was in my tummy ...

Today was flu shot day! Yeah! I was able to get one through my company this year, saving me another KUMed run – actually the team that came to give the shots was from KUMed. Given my headache, (which is still with me) I’m not sure I was supposed to get one – but the allure of saving me a half day off work and a huge cab fare was too much temptation. When the nurse read the consent form to me, I decided not to go into details. The form asked if I’d had a fever in the last 48 hours. I looked at the clock and counted back. By 1:30 pm, when I’m getting the shot, it will have been 48 hours since I had a fever. (And it was only 99 then.) I checked off no. Then the form wanted to know if I was sick. Sick? Well, that’s a relative term. What do you mean by sick? By sick, do you mean am I feeling well? I pondered the question, my head pounding, and then I checked “no.” I guess I’ll be sorry if I get the flu. The thing is I often don’t feel completely well. I don’t necessarily feel hugely sick, j...

Sorry for the lack of posts lately. When I check my usage log and see that some of you are coming back several times to check in, and I know there’s nothing new to read, the journalist in me just feels bad. Grin! I’ve been avoiding the computer as much as possible for a few days. With the exception of right now, and late Saturday night, I’ve had a steady headache since Thursday night. It seems worse when I look at the computer screen, so I’ve been restricting my screen viewing to essential tasks i.e. urgent Hermansky-Pudlak Syndrome business and stuff for work. Blogging has had to wait. So has checking in with all my friends! Sorry! What’s up with the headache, you ask? I have no idea. It seems like I’ve had a lot of them lately. My stress level isn’t horrible right now, so I don’t think that’s it. I just saw the eye doctor at NIH, so while it could be eye strain, I doubt it. I have chronic sinus problems so that’s a possible. And, then, there’s the Pirfenidone/placebo. I don’t remembe...

This is a short post to send a big kudos out to the Oysterfest crew. I’m not sure if any of them read this blog, but hey, I thought I’d send it out there anyway. Oysterfest is a big festival held in Oyster Bay, N.Y. – home to Donna Appell, Founder and President of the HPS Network, and her family. For the past few years the HPS Network has had a food stand at the Oysterfest food court. We partner with a local food vendor, and the whole project is a fundraiser for the HPS Network. A crew of local volunteers help to man the booth and cook the food. I’m not yet sure how the weekend went. I’m sure the Oysterfest crew is settling up with the vendor etc. – but we HPS’ers very much appreciate all their efforts! P.S. The above image was from our first Oysterfest experience. The board was in town for a meeting, so we helped at the booth too.

It’s late, well, maybe I should say early. I’m such a night owl! Today started out with more stomach cramps, and many trips to the bathroom, but by evening I was feeling much better and had even managed to clean the kitchen and bathroom (without getting out of breath from the cleaners! Yeah!). My friend Tina J. and I met up, had dinner at a nearby Italian restaurant I’d never tried, and went to Homers Coffee House. We quickly left Homers (with hot chocolate and chocolate chip cookies) because the band was really, really, loud and rocking – and neither of us was in that kind of mood. We came back to my house, watched Father of the Bride II (a wonderfully, completely mindless movie) and then listened to music as we drank our hot chocolate and ate our cookies. I feel so rested, calm, collected and very much awake. Now, of course, it’s time for bed, and as I sit here I’m looking at the pile of work I want to finish before Monday morning. This is what’s frustrating sometimes. I feel great r...

This week we heard from HPS Japan. Oh how I wish I could find a good Japanese translator! It seems there’s an HPSer in Japan trying to get listed for a lung transplant. I’m anxious to hear back about whether they’ve had a successful HPS lung transplant in Japan. We’ve had two in the U.S., which is making it easier for other HPS’ers to be listed than it has been in the past. We also heard from a doctor in Japan with an interest in HPS. I'm already aware of several researchers in Japan doing work on HPS. One of them was at the Pigment Cell Conference last November. Those of us with Hermansky-Pudlak Syndrome are so anxious to hear from our counterparts in Japan. We all feel so close to one another because our shared experience and we’re so anxious to learn about the experiences of those with HPS in Japan. We’re anxious to trade information, both in hopes that we can learn from them, and that they can learn from us. It’s just in the last year that we’ve learned that Hermansky-Pudlak Sy...

This will probably be a short post, unless the Tylenol kicks on for the headache I’ve now had for two days. Thursday night everything seemed to be going well. It was a good day at work, and it was TV night. I really don’t watch much TV these days; something that I’m aware makes me appear quite socially challenged at work. I can’t carry on much of a conversation about the latest episode of this or that – but I just don’t have that time. But, I’ve been an ER fan since the beginning and everyone has told me how great Grey’s Anatomy is, but until this season, it wasn’t on a night that I could watch it. So, I’m trying to allow myself Thursday nights to watch TV. It’s been a big disappointment so far. Here this is my big self absorbed splurge – and this is all I get? Forget Grey’s Anatomy. I’m not impressed. It seems like a big soap opera. But, the little set errors are at least entertaining. I noticed last week that when the blonde chick, the one’s that in trouble for what she did with the ...

I’ve got so much to blog about, but right now work is very busy and so is the HPS Network. So, I’ve spent the evening working on things for work, and some freelance things, and returning a few HPS-related e-mails. I’ve run out of time to blog. But, in lieu of my personal musings, I thought I’d share this press release from IPF Awareness Week. We share a lot of the same goals as the IPF community. While the pulmonary fibrosis of HPS is not idiopathic (idiopathic only means doctors aren’t sure what causes the problem, and we know the pulmonary fibrosis of HPS is caused by a gene error – we even know the gene) – we share the same general health concerns, and the same general policy concerns with those that have IPF. This press release mentions proposed legislation to do away with the mandatory waiting period for Medicare coverage for those with serious health problems. I intend to blog more about this later – doing a little fact checking on the subject as soon as I have a chance. At any r...

Does anyone remember the news story from last year about the X-Prize Foundation? This is the group that sponsored a multi-million dollar contest to develop a viable commercial spacecraft that could open up the space frontier to everyone. Well, they’re at it again – and in my opinion doing something even more important – challenging science to conquer the inner frontier, our genome. Currently, genome mapping is time-consuming and expensive. The X-Prize Foundation is offering a $10 million dollar prize as an incentive to discover a method that would make genome sequencing a practical diagnostic tool for physicians. Here’s what the foundation has to say about the project. Ladies and gentleman – start your minds. The race has begun! On October 4, 2006, the X PRIZE Foundation announced the launch of its second prize — the Archon X PRIZE for Genomics. The $10 million cash prize has been created to revolutionize the medical world. The launch was attended by visionaries and entrepreneurs from...

Just a short post to ask everyone to keep praying for Katy. She was getting better, but has had a setback. I know from experience that when that happens, it’s hard to believe you’ll ever come out the other side. Here’s another picture, thanks to the Sipe family, of Katy with Crystal and Candice.

Wow! It’s amazing what a difference a little sleep can make! I’m a little frustrated that I spent so much of my weekend sleeping rather than getting housework done, or any of the many other things I need to be doing, but then again – I feel back to normal today. It’s amazing how much easier the day goes when you’re not struggling to focus on a line of text. It’s definitely fall here. The leaves are starting to turn, it’s getting cold (supposed to have highs in the 40s later this week), and the days are getting so short! This morning I discovered a tree by our office parking garage that was bright red Friday had lost all its leaves over the weekend. They were all in a huge pile in the middle of the street. No one appeared to have even driven through them yet to get into the parking garage. I fought back the urge to get a running start and take a giant leap into the leaves like a kid after the yard had been raked. First, there was asphalt under those leaves, and second, who knows who wou...

Some of the regulars may have noticed the blog has been undergoing some changes. I decided to upgrade to Blogger’s latest beta edition. After a little adjustment (the directions for those of us who are technically challenged could use some work) I figured it out and I like the changes. I’m especially excited to be able to organize content by category rather than just date. I get a lot of inquiries about my diagnosis story, so now there’s a category for that. It will take me some time to go back through nearly 200 posts and put them all into categories though, so be patient. I’m not sure that I’m happy with the color changes. The goal was to make the blog easier for visually impaired folks to read as so many of my readers are legally blind. But gee, it seems awfully loud! I may experiment some more with those changes. The only thing left is I still don’t know how to add a music button – but someday maybe I’ll figure it out. If anyone has any feedback, especially on whether it’s easier t...

Not to beat a dead horse or anything, but here's a group shot of all the HPS'ers and family that were at the 20th anniversary of the Genetic Alliance gala. Oh how I hate to miss a good party!! Update: I was thinking about this picture. It's such a good illustration of a point we often try to make about albinism. Not everyone with albinism, or with HPS, has blonde hair etc. There are 19 people in this picture, and only seven of them don't have albinism.

Donna Appell, President and founder of the HPS Network, had her birthday on Oct. 6th. The folks that met early in Washington had a birthday surprise for her. Happy Birthday Donna – and many, many more! Without Donna, I’m very sure that there would be no ongoing research into Hermansky-Pudlak Syndrome, nor would there likely be a drug trial. Her efforts are constant, faithful and truly amazing. Although she receives no salary, Donna is up at the crack of dawn every morning working on HPS-related items, and I know she often works late into the night. Donna, we love you! P.S. Thanks to the Sipe family for so many wonderful pics! (I haven't had a chance to e-mail you guys yet, but I got the CDs!)

Last weekend was another milestone in the battle to cure the Hermansky-Pudlak Syndrome type of albinism. For many years we’ve had outreach efforts in Puerto Rico. I’ve routinely written to news outlets on the island trying to generate some media interest, and never had so much as an e-mail back telling me to bug off. But, last weekend we had the most successful outreach effort, probably in our history. The newly formed Puerto Rico branch of the HPS Network held the first annual HPS Family Conference. Many thanks to Ivette and all the people who worked so hard to make this event a success. Approximately 250 people with HPS and their families turned out for the event. They attended seminars about HPS, got the chance to meet other people with albinism from all over the island, and many had their blood drawn to screen them for HPS and eligibility for the drug trial. Hilda and Donna drew blood, while Kevin took medical histories. We think we’ve identified a possible 20 plus new people for t...

This has been a long and sometimes tough week for me – yet I feel really silly about saying anything because while it hasn’t been the best week ever, I’m well aware of just how much worse it could be. I’ve been battling fatigue a lot in the last week – which isn’t a horrible problem, but somehow when I’m tired all of my best coping self goes out the window and I feel frustrated, easily irritated, and generally crabby. I’ve been feeling like I need to pitch a very childish tantrum. Sometimes I just want to rant, and this has been one of those weeks where I want to rant about everything. I want to rant about feeling crappy. I want to rant about the various HPS situations I’m aware of that are particularly tough right now. I want to rant about how unfair all of this is. I want to rant about having to deal with all of it pretty much on my own. I want to rant about how insensitive people can be sometimes. Why the fatigue? Your guess is as good as mine. Last weekend seemed to be the starting...

I stole this off of the Genetic Alliance Web site – I don’t think they’ll mind. This is the group that lobbied for Gene Day on the Hill, the first of what I expect will become an annual event. Can you find the people with Hermansky-Pudlak Syndrome in this picture? I’ll give you a hint, not everyone with HPS is blonde!

Last week I got one of those e-mails that makes its way around the internet from an HPS friend of mine, Ana. I must confess – typically I don’t read these. It isn’t that I don’t like them, it’s just that I have so little time. Between work, HPS and my personal mail, I get several hundred e-mails a day (and that’s not counting the spam!) So, admittedly, when I see that big list of forwards, I usually delete the mail. But this time I happened to read it. I hadn’t heard from Ana in a while, so the e-mail caught my attention. While these e-mails almost always have a great message and a good story, I thought this one was particularly poignant to living with a rare disorder as well as being an advocate. So, here’s the story: A young woman went to her mother and told her about her life and how things were so hard for her. She did not know how she was going to make it and wanted to give up. She was tired of fighting and struggling. It seemed as one problem was solved, a new one arose. Her moth...

TAKE ACTION Ask your representative in Washington, DC to cosponsor the Genetic Information Nondiscrimination Act!Government officials are deliberating on policies that affect YOU. Right now, the Genetic Information Nondiscrimination Act is before the nation’s top decision-makers in Congress.The Genetic Information Nondiscrimination Act protects Americans from the misuse of genetic information in employment and insurance decisions. Many Americans fear that their genetic information may be misused, and therefore abstain from beneficial genetic testing. This legislation offers protections against misuse of genetic information, alleviating such fears. It is in our community’s best interest that this legislation passes, so that millions of Americans can benefit from these important protections and feel confident that information gained from genetic testing is protected from abuse.YOU can help to make this legislation successful. By voicing your support for the Act to your elected officials ...

Some weeks ago my friend Elsie, who also has HPS, was in search of a new doctor. (Regular readers might remember the story.) She picked one from her insurance plan, made an appointment and dutifully arrived at her appointment. Trying her best to educate the new doctor about Hermansky-Pudlak Syndrome, she began to tell him about her diagnosis etc. He dismissed her with a flippant “Don’t give me your diagnosis, give me your symptoms” comment and then proceeded to tell her that she probably didn’t have HPS because it’s so rare. Eventually she did convince him and he included the HPS brochure in her chart – but the experience was frustrating and left Elsie feeling like this wasn’t the doc. for her. So, Elsie’s been searching for a new doctor, yet again, but as happens with all of us, life gets in the way. There are things to do, kids to care for, and somehow the project ends up on the back burner. That is until this last week. Elsie developed a terrible ear ache. Her ear was painful and sw...