Living on the frontlines

Last year the HPS Network got a new office, and while I was there I took a few pictures. But, to appreciate what you’re looking at, you’ve got to know the back story of the HPS Network office. Until last year, the HPS Network office was the top of an old dining room table in Donna Appell’s basement, right there in the family room with the TV and the laundry. Donna jokes about how many times she’s received calls from people who seem to have the impression they’re calling an “office” – you know, a place with a receptionist and desks. All the while, there was Donna, answering questions about dense bodies and plotting political strategy while cutting carrots for her family dinner. We’re a small operation with massive growing pains. A few years ago the Appells decided to add on to their house. Top of Donna’s wish list was a real office, with desks, a server, phones and a door. As has been the case since the very beginning of the HPS Network, the Appells have covered all the overhead of bui

Dr. Melissa Merideth probably doesn't realize it, but she's got a regular fan club among women with HPS. Sandy brought the following honoring of Dr. Merideth to our attention. Kudos Dr. Merideth! For many years women with HPS were clamouring to have their unique needs met. Many of us have complications with prolonged cycles that can last for days and days, heavy bleeding (both of which can just make you feel wiped out!) or questions surrounding child birth. When Dr. Merideth arrived at NIH and started working with the HPS patients, it was a Godsend to all of us, as well as our doctors back home that were often somewhat puzzled as to what to do with us. Dr. Merideth has been a frequent presenter at the HPS family conference - and while the sessions are usually small, they are also requested over and over again. (We like them small so women don't feel anxious about asking questions.) Already I've had several e-mails wanting to know if Dr. Merideth would be at this year

Wednesday I missed one of the HPS events of the year – our first foray into lobbying in Washington. I had the privilege of lobbying several times for the National Federation of the Blind when I was in college – but it wasn’t just the hob knobbing on the Hill that I missed. It was the opportunity to see some of my HPS friends. It’s hard to describe what a bond the HPS community shares. We call ourselves a family and it’s so true. We love each other. We disagree about many things such as politics and religion. We sometimes fight with one another. But in the end we all depend on one another and when I’m with my HPS family, I feel like I’m home. After a hard day of beating the pavement in Washington, our lobbyists attended a swanky dinner to celebrate the 20th anniversary of the Genetic Alliance. Again, while I’m sure the food was good, I was distressed that I missing out on a very special HPS family moment. As the frequent readers know, Candice and Crystal (twins with HPS) were honored fo

Yesterday I missed a huge event - and it was killing me. I'll blog more about it later when I've got more time, but in the meantime, here's a press release about it. There were several HPS'ers that took part in this event, and Candice and Crystal Sipe (mentioned a few posts ago www.angelsinvoice.com ) were honored. WASHINGTON, Sept. 27 (AScribe Newswire) -- Genetic Alliance brought together today more than 250 advocates, researchers and clinicians in the largest ever celebration of the genetic advocacy community. An exhibit at the National Geographic Society in Washington, D.C., showcased leaders of a variety of organizations -- from little children who have been spokespersons for a disease to founders who have gone on to build research enterprises. The 20th anniversary celebrated an inventive, driven, inspiring community. "We are celebrating the best of the human spirit: the leap across the threshold (and sometimes canyon) from dire and devastating diseases and c

Hey long lost Jennifer - if you're still out there - I've been trying to e-mail you at the address you left but it keeps bouncing back to me. E-mail me at: hkdawn@yahoo.com . I was so excited to see your message!

Here's a picture of the HPS Board of Directors meeting at Donna's house and discussing a few things over dinner - a dinner that Donna cooked!!

Picture to follow: Blogger isn't letting me import images again! Grrr.... Oh what a weekend! I spent the weekend at the Hermansky-Pudlak Syndrome board meeting. It was a great meeting. Everyone seemed to work well together and feed off of one another. Everyone had something to contribute and we got a lot of work finished! We did the typical things that boards do. We reviewed our budget, reports from our financial advisor etc. We discussed the future vision of the organization, goals for research initiatives etc. We reviewed our affiliations with other organizations such as the Genetic Alliance, NOAH, American Thoracic Society and others. You might call it the business end of managing a non-profit. We also spent quite a bit of time discussing the conference, possible presentations, how it should be organized, how we should all communicate beforehand to bring it all together and take as much of the load off of Donna as possible etc. I’m going to hold out on some of those details for

Candice and Crystal Sipe perform at the 2006 HPS Family Conference. Long time readers have seen Angels in Voice, the singing duo of Candice and Crystal Sipe, featured here. Well, now they’ve got a blog of their own! Check it out at www.angelsinvoice.com . Candice and Crystal routinely hold concerts raising money for Hermansky-Pudlak Syndrome and have often appeared in concert to share their story about their faith as well as about HPS. You go girls! As many of you know, Candice fought a battle with liver cancer last year. She recently found out the liver cancer is back and could really use your support and prayers. As always, both Candice and Crystal are upbeat and positive and are confident God has a continuing unfolding plan in their lives.

As you might have noticed from time to time here, I’ve got a variety of little online fundraising projects going on for HPS. They don’t raise thousands, but hey, they’re really easy and every little bit helps. Since many of you are the ones helping with these fundraisers, let me give you an update. Who ever has been shopping for the Hermansky-Pudlak Syndrome Network at www.igive.com – thanks!!! We’ve made $6.00 this month, which for this project is pretty good. We’re $4.00 away from getting our next check. So, if anyone has any Christmas, birthday or whatever type of shopping going on, please, by all means – shop for the cure! For those who don’t know about www.igive.com , it’s an online shopping mall of more than 650 merchants ranging from Barnes&Noble and JC Penny, to Office Depot and Eddie Bauer. You can find pretty much anything you need through the site. It does take a little time the first time you shop there, however. Each merchant gives a percentage of what they earn throu

Donna sent me this article this morning. It made my day. For new readers who might not appreciate why we find this news so exciting, people with Hermansky-Pudlak Syndrome have traditionally found it very difficult to be listed for lung transplants. Now, with two successful lung transplants under our belts, we seem to be making headway with a transplant team's concerns about bleeding. Still, getting listed for anyone isn't easy. There's just more need than supply, and because of the nature of our disease process with pulmonary fibrosis, we've been at a disadvantage on the transplant lists. But, recently some of the rules about who gets listed at the top of the lung transplant list have changed - something discussed for the last two years at the HPS Conference. Here's a look at what an impact those changes are making. (Note: the formatting may be off - I've corrected it, but still it sometimes get wonky when I post it.) This article appeared in the New York Times

The fried chicken had its revenge. I guess it wasn’t meant to be. I was terribly sick to my stomach all night after my Cajun food tantrum, but by the next morning was feeling better, albeit tired. Despite puking up the dinner, I bet I retained every last calorie! UUGGHH! Last night’s Mexican splurge went off without a hitch, so I guess I don’t have the flu. And, I’ve now been on the full dose of Pirfenidone/placebo for a week. I feel really great this morning, so all is well. I’m leaving shortly for the Hermansky-Pudlak Syndrome board meeting in New York. You’d think by all my fretting this morning I never travel. I always get nervous right before a trip – but isn’t a fear of flying or being away from home. Nope, my travel stressers are a bit more rooted in practical reality. First, I had to change my ostomy this morning. It’s been well behaved recently, and the skin is looking great, but then again, if it’s going to leak it usually doesn’t until a few hours after changing it. So, that

Today I had a KUMed appointment with my home doctor to bring him up to date on the events of the summer. I took him all the lab reports from NIH, as well as some information about Pirfenidone. He seemed quite pleased with how thorough NIH was and all the tests they ran. I also had to get new copies of all of my prescriptions as my nearby pharmacy went out of business. The good news was that when he listened to my lungs he heard NOTHING! They sounded clear as a bell! For the last year it seems like almost any time anyone listened to my lungs there was at least a bit of “crackling.” I have felt like I’ve been breathing a bit easier lately, but attributed it to the psychological aspect of being in the trial rather than an actual improvement. After all, it’s been much less humid and not hot, which is much better breathing weather for me. The bad news, however, was that I didn’t lose a single pound – not even one! I just can’t get my head around how that’s possible. If three weeks of almost

Catastrophe! This evening I was taking my last dose of Pirfenidone/placebo before logging on one last time and going to bed, and horror of horrors, I dropped one of the precious pills on the floor. It was like dropping a nugget of gold, and then not being able to find it. I crawled around on my kitchen floor, which is the size of a postage stamp, for a good twenty minutes trying to find it. I even tried to move the fridge and the stove slightly (with no success) to see if it rolled under them. Not only did I not find the pill, but I discovered that the floor I only so proudly mopped yesterday is filthy! So much for the Swiffer Wet Jet mop! I guess it’s back to a sponge on my hands and knees. Not only is the floor small, but I can find the dirt better that way. And, just as I was closing a book I was working on, I happened to switch on the TV and found that one of my favorite movies of all time, REDS, was on. I couldn’t help but watch part of it as I haven’t seen it in years. I really m

This story ran as a letter to the editor in the local Fort Wayne newspaper today. The money raised by Fort Wayne does not go to the operation of the HPS Network, scholarships for conference etc. It goes totally to research. Way to go Fort Wayne!!! CHEERS and thank you to everyone who has participated in the Mouse Project fundraiser. In two years we have been able to raise more than $102,000, with 100 percent of the proceeds used for research. It’s our hope that this money will provide a huge impact in fighting a rare genetic disorder called Hermansky-Pudlak syndrome. This potentially fatal disorder affects both of our children, Julia and Tommy. Our family cannot begin to express our gratitude to our sponsors, silent auction donors, committee members and attendees of this wonderful event. Here’s looking to next year as we again try to raise money to find a cure for my children, as well as others afflicted with HPS. BECKY and TIM MOLTER Fort Wayne

When I was at NIH being screened for the drug trial, I had the privilege of spending nearly two hours talking to one of the researchers investigating the cause of the pulmonary fibrosis of Hermansky-Pudlak Syndrome. The science was fascinating as he tried to sell me on the idea of why they need more young people with Hermansky-Pudlak Syndrome to volunteer for lung lavages. (As if he had to sell me on it. Since we had never met before, I don’t think he realized he was preaching to the choir.) One other aspect of the conversation sticks in my mind however. We seemed to be building a good rapport, so he confided some of his concern for the HPS patients. “I sometimes worry,” he began, then he fumbled around for the right words to convey his meaning. “Denial isn’t always such a bad coping mechanism,” he started again. He observed that some of the HPS patients didn’t seem to fully appreciate the entirety of their disease process. “I worry,” he started again, “I worry that by bringing some of

This morning I finally got my hair cut! My hair dresser, Megan, says to me “It’s been ages since I’ve seen you!” “I’ve been really busy with work,” I answered. It wasn’t a complete lie. I have been swamped. But, I’ve had to cancel my last three hair appointments because of my NIH trips this summer – a subject I’ve never broached with her. Every time I see her she oohhhs and aaahhs over my blonde hair. “How did you get so lucky as to have such beautiful blonde hair?” she says every time I see her. I can’t help but chuckle to myself. If only she knew the price I’m paying for this beautiful blonde hair! Grin! I had an appointment with her just before I was leaving for Genetic Alliance. I wanted to have my hair looking great at the meeting. But, when NIH agreed to see me as an outpatient to repeat my pulmonary function tests, I had to get ahead at work and thus had to cancel my hair appointment. Then I had one before I was supposed to go back to NIH to be screened for the drug trial, and a

I was recently asked by a relatively newly diagnosed person with HPS why they should bother to quit smoking – after all, they theorized, they’re going to develop lung disease anyway. What difference does it make if it comes from smoking, or some rare genetic malady? I wanted to blog about the subject, not to beat smokers over the head about their smoking, but to address both why it’s an especially bad idea to smoke if you have HPS and why this sort of fatalism that some of us HPS’ers have is misplaced. (I may not smoke, but I haven’t been immune to similar lines of thought from time to time when I’ve been discouraged.) First the smoking. If you’re old enough to understand speech, then you already know that smoking is bad for you. But for someone with Hermansky-Pudlak Syndrome, smoking is doubly dangerous. In fact, some of our doctors even advise us to not even go to restaurants or bars where other people are smoking. There’s a lot our doctors don’t know about why or how fibrosis begins

Tonight is the night I increase the dose of Pirfenidone or placebo for the last time. As of tonight, I’m on the correct amount of medication. Today was also the first time I sent a status report to NIH. I’d say so far it’s going very well. Okay, I’ve had the “runs” a lot during these last two weeks. I’ve also had an almost non-stop headache that feels like a sinus headache, but doesn’t respond to the normal things I do for a sinus headache. And, I’ve had some joint pain in my ankles, wrists and fingers, but it’s been very mild. It’s just enough for me to be aware of it, and annoyed by the end of a day typing. These are all issues that could be totally non-related to the trial, but if they are, I think I can live with them. In all fairness, work has been a bit stressful because I felt behind after being at NIH for a week. That could contribute to all of these symptoms. Either way, we’ll continue along popping pills! Grin! My next mission is to find a little pill holder big enough for th

Sorry for the lack of posts. I’ve got a list a mile long of things I want to blog about, and just haven’t had the time. In the meantime, this is really short, a bit of a vent, but hey, it’s something light for a change. Bathrooms at airports – They tell you not to leave your bags unattended, and then expect you to go to the bathroom in a stall that has a door that opens inwards. Does anyone else have a problem hauling a suitcase, carry on and a purse into the stall, and then trying to get the door closed? Or even better, trying to get out again? Restaurants at airports – Again, you’ve got all this baggage and you’re expected to struggle through a little roped off line, and then balance a tray with everything else you’re carrying. Press releases with no contact information – About 20 percent of the press releases I get have no one to contact. Are you kidding me? Like I’m just going to run what you wrote verbatim without asking a single question or even knowing who you are. Please! Peopl

When I left for work on Sept. 11, 2001 there was nothing special about the day. By the time I arrived at the office, the entire world had changed. Back then I was regularly freelancing for the South China Morning Post. They had a “North America” page twice a week where they ran trend stories and interesting local color pieces or news-of-the-weird sort of stuff. I wasn’t at my desk but ten minutes before the SCMP called and asked if I could help out with their coverage. It was pretty clear that nothing was going to get done in my office that day, and so EXPO was good enough to allow me to spend the day working for another publication. It was a very lucrative day. I filed a number of stories, and helped do research for the foreign desk as their other freelancers (and a full-time staffer) in New York and Washington reported from the scene. Finally, at 2:00 a.m. I thought I was finished when another call came. The staffer and other freelancers weren’t American citizens. The paper wanted to

Today has been a great day so far. I feel great. That spacey feeling in my head is subsiding and I feel as though I’m thinking a bit more clearly. I don’t feel as tired either and even woke up at a reasonably normal time without an alarm or the threat of unemployment looming over my head. It’s been a productive day too. While I haven’t finished everything on my list, there’s still tomorrow. The weekend is only half over! Normally I don’t feel this good until Sunday night, just in time to go back to work. Okay, so I didn’t get to the mall, or do much housework. I did work on my freelance story that’s due and I did run several errands. I also joined some girlfriends – two of the three Tinas – for dinner. We ate at Governor Stumpy’s and then rented a movie (a chick flick of course) called “Must Like Dogs.” I’m not sure if Tina J. liked it much. Admittedly, I could have done without a few sections, but on the whole it was cute. Sometimes chick flicks are a little hard for me to watch these

So far the increased dose of Pirfenidone, or placebo, is going well. I’ve had some diarrhea again (it had gotten better) but then again, it’s been a stressful week. I’ve also had some minor joint pain in my ankles, fingers and wrists – but again, I’ve had this problem before. This evening I got off the bus early and went to Michaels in search of some scrap book supplies. I’m not exactly into scrapbooking. I just don’t have the time, and if I did, I’d prefer to paint. But, I’m trying to make a special surprise for some of our biggest Hermansky-Pudlak Syndrome fundraisers. Feeling just great, I grabbed a salad at Wendy’s for dinner and decided to walk home. It’s a long way. I used to be able to walk it with little trouble, but in the last year it’s become pretty hard to do it without stopping in some place for a rest. But, knowing it would be good for me, and since it was a Friday night with no deadlines over the weekend – I splurged and walked home. I’m not sure it was a good idea. I no

Tonight is the next step with my new pills – it’s time to double the dose. For the first week I took one pill three times a day, and this evening we bumped up to two pills with each dose. The next installment of Pirfenidone or placebo also arrived via Federal Express today. Each bottle seems to be a week’s worth of medication. The smaller bottle has the dose for the next week, and then in a week we step up to three pills three times a day. Today I felt pretty good, so I wonder what will happen next. I even went for a nice long walk this evening. Fall is slowly coming. The days are shorter, and the weather is much more tolerable for me. The highs are in the upper 70s and there’s almost no humidity in the air – perfect! I didn’t even get very out of breath on my walk, which I think has more to do with the lack of humidity than anything else. I’m looking forward to winter. I want to be able to drink hot tea, eat soup, and not be miserable. I’m ready for the fall leaves and the crunching

A little more than a year ago four of us with Hermansky-Pudlak Syndrome volunteered to have lung lavages at the National Institutes of Health in Bethesda, Md. Several years ago another group did the same thing. Today, NIH is ready to take the next step and ask more people with HPS to volunteer to have lung lavages, ideally every year to two years. This could mean a lot for the research. To be honest, a lung lavage isn’t the most fun medical test you could ever have done. Doctors pass a long flexible tube through your mouth, down past the vocal cords into the upper regions of the lung. They then flush saline into the lungs causing you to cough, and thereby slough off cells from the inner parts of the lung. The resulting mucus is then sucked out and collected. This differs from a bronchosopy in that no biopsies are taken. We joked a year ago that it was all sucking, and no plucking. Currently NIH is afraid to try to take biopsies of our lungs, even though it would be immensely helpful to

It’s Labor Day, and in the true spirit of the occasion, I’ll spend the day laboring. Yesterday I did housework (still didn’t finish everything) and today I’ve got to figure out what happened at work last week and try to start getting caught up. To be honest, it makes a pit in my stomach. Yes, I’ve been in my NIH funk, but at the same time, on a high about the drug trial. I haven’t wanted to check my work e-mail for fear there’s some angry reader or advertiser laying in wait for me, ready to ruin my hopeful spirit. As for the drug trial its self, I can’t really tell if I’m having any side effects. The list of side effects for this drug very much resemble my normal day-to-day issues, so I can’t really tell if I’m having a reaction to the drug, or just being my normal wonky self. I’ve been very tired. I slept 14 hours uninterrupted – not even getting up to go to the bathroom – between Saturday and Sunday. But, I sometimes get very fatigued and do that. My joints have hurt some (an item li

Thanks to everyone who has sent well wishes my direction. As always, I’m in a post NIH funk. This happens every time I go to NIH and I’ve talked to others that have had the same experience. Being at NIH can be stressful. They are so thorough in their exams that you never know what they’re going to find. You never know what kind of news you’re going to get, so most of the time you’re on edge about what news the trip may bring. At the same time, I feel very safe at NIH. It’s the one place on Earth where I have confidence that they know what they’re doing in regard to Hermansky-Pudlak Syndrome. It’s also one of the few places I go where everyone understands what I’m dealing with, and I don’t have to explain anything to anyone. Everything I say is taken seriously and investigated. It’s such a supportive environment, but then it’s time to leave and you have to return home with everything you learned and take it back to the real world where even the best intentioned people seldom really unde

One of the things I've been asked several times from other HPS'ers is what does the bottle look like. Here it is! Who would ever imagine a pill bottle would be such a thing of beauty?

This is me taking my first dose of Pirfenidone, or placebo, I'm not sure which. It's 4:55 pm, Wednesday, Aug 31, 2006, a little more than four years after being diagnosed with Hermansky-Pudlak Syndrome. I'm taking Pirfenidone as part of a Phase III trial at the National Institutes of Health looking for a treatment for the pulmonary fibrosis of HPS.

It’s now official. I’ve got pills! I have no idea what kind of pills they are – but I’ve got them! Yesterday was sort of an emotionally intense day as I waited for the last test results to come back. I was so afraid they’d find some small thing that for some reason would exempt me from the trial. And when Dr. Gahl and Kevin came to do the final consent and Kevin went away to do the final thing – the point of no return – calling the pharmacy and ordering my pills, it was like waiting for a new chapter of my life to start. I waited and waited – it took most of the afternoon before I could finally go down to the pharmacy and pick up the pills. As I sat waiting in the pharmacy, I started talking to the other patients in the waiting room. We had all just been approved for various trials of some kind. We were all just beaming from ear to ear as we’d all been given a new chance at life. Finally my number was called and I was handed a small white sack containing a non-descript white bottle. It