Living on the frontlines

My neighbors probably think I’ve gone and lost it again. This evening, after spending the afternoon cleaning house and doing UNPAID work for my employer, I decided to go for a walk in the rain. I love the rain. I love it when it’s cloudy and overcast and damp, and there’s a chill in the air. An ex-boyfriend dubbed it “Heather weather.” It’s been raining off and on for several days and the sky has been a gray overcast. Last night I was supposed to join the two Tina’s for dinner, but as I was struggling to stay awake at work, I opted out and went home to bed. The cough still persists, and the allergy medicine that seems to help also has the effect of knocking me on my butt! I’m not sure which is worse, coughing all the time, or the fatigue heaped on the fatigue I already struggle with because of the medicine head. So, I came home, opened the windows, and curled up in my quilt to listen to the rain. I fell asleep that way, cradled in the warmth of my quilt and lulled to sleep by the soft

An HPS friend called last night to relay the following story. She may need surgery, so her doctor suggested that she needed to see a hematologist because of the bleeding problems associated with Hermansky-Pudlak Syndrome. He said something like - we’ve got to be extra careful with exotic disorders like yours. We howled! Exotic – now there’s a new word for our lexicon of HPS words! It makes it sound like we’ve been to some tropical foreign locale instead of NIH (a.k.a Club Med.) I think I like the word exotic. I should use it more often – maybe it would work better in the dating world. SWF, exotic, 32…..and so on. HA! Well, it might give one the wrong idea. Oh well, excuse me while I go polish my pole.

This photo was taken for my friend V. a little over a year ago. If you want to know what it means, you're just going to have to read - sorry! I’ve been feeling the need to blog about my friend V. for about a month now, but I haven’t because I just couldn’t face it. It’s been a little over a month since the one-year anniversary of his passing. Fighting for a cure is a war, and V was one of the brave soldiers that died looking for the elusive peace. I’m not sure if I ever met V. in person. I have no idea what he looked like, although he said he was at the first Hermansky-Pudlak Syndrome Conference I attended. He didn’t remember me either. He missed the next two conferences because he was too ill to attend. I first met V., at least that I can remember, on the telephone. A medical professional we both knew called me one day, and in the conversation about many other things, he mentioned “this other patient” who was seeking a lung transplant and feeling a bit down and frustrated. The me

I’m one of those pesky people that gets myself all tied up into knots every so many months about one political issue or another – and I eventually write my Congressman or Senator. But never have I actually had one of them reply to me, so I was surprised when I discovered an envelope in my stack of mail that said, “United States Congress.” I’d applied for a job at the Library of Congress, so I scratched my head and thought perhaps it was a rejection letter (that would be a first for a federal job). Inside I discovered a letter from my Congressman, Dennis Moore, Democrat, Third District, Kansas. Yes, I know it was a form letter, probably signed by auto pen, but someone actually bothered to put together a form letter to respond to me. I’m impressed. Okay, so I’m easy to impress. I had written him about President Bush’s 2007 budget proposal which contains an $873 billion discretionary spending cap on health research and education. This translates to a $7 billion budget cut, which I fear, w

Apparently I have “helpless” stamped on my forehead today. Is there some radio station contest I don’t know about, or maybe show on TV? I’ve had multiple strangers try to help me today - only trouble is they’ve wanted to help me with things I either don’t need or don’t want. This morning I tried to catch the 7:00 a.m. bus to work in hopes of getting into the office early and getting a head start on things. I just missed the bus, and rather than stand on the corner for a half hour, I walked down to McDonalds and got an egg sandwich (there goes the diet already!). As I stood outside near the McDonalds I had not one, not two, but three people try to stop and offer me a ride or give me directions. I know that to most of you that sounds very nice, and I have no doubt that these were the most kind-hearted souls who really wanted to help me – but I wish I could redirect their enthusiasm. One lady almost caused an accident on Metcalf because she stopped right there in the middle of the street

Pictured are two of the younger members of the Adventure Fitness Camp Fire Club at a picnic at Loose Park, April 2006. It’s Sunday afternoon, and I finally feel reasonably normal, after a LOT of sleep. I came home from work Friday feeling pretty frustrated with work, which is pretty much the norm these days. Cranky would be a good word to describe it. I turned on the TV, stretched out on the couch, and woke up about four hours later. By the end of the week I’m always so exhausted. I was supposed to take care of my Godchildren this weekend, but for the fourth time their parents cancelled. Kaylen was sick, and Lord knows if he’s sick I’d just prefer he stay at home. Not that I mind caring for a whiny baby, but I just can’t get another bug. It was fine since I’m so behind. I thought not having the kids would give me a chance to catch up. Truth is short of getting a month off, I’ll never catch up. I slept in way too late on Saturday, and then decided to join the camp fire group at Loose

This is a photo of the Adventure Fitness Camp Fire Club after their awards dinner in 2005. This evening I went to the annual awards dinner for volunteers with the Camp Fire Heartland Council. I haven’t done anything Camp Fire related in weeks, even months, and it was good to see everyone. Camp Fire, unfortunately, has fallen victim to other events in my life. First, my crappy health this winter made it harder for me to do the typically physical activities without getting so tired that the rest of the day or evening was shot while I recouped enough to do practical things like laundry or dishes. So, a three-hour Camp Fire commitment would become six hours for me. Second, there are so many things that the Hermansky-Pudlak Syndrome Network needs these days. We’re at a critical juncture in the push towards our first treatment for the lung disease of HPS, and I felt like my attentions needed to be more with HPS work. Finally, work has been busy, and given the current climate there, I’ve incr

As techno-challenged as I may be, I’ve been tinkering with my blog lately, and it’s been a blast. You’ll notice the new font. Most of my regular blog readers, I’m guessing, are visually impaired. While the old font looked great on my computer at home, I took a quick peek at the blog at work today and noticed the font was really hard to read on that screen. So, I’m hoping perhaps this will be a bit easier on the eyes. Also, I installed a counter. Yep, can’t help it. I’m a journalist egomaniac and I’ve just got to know if anyone is actually reading this. I can’t imagine why they would, but still, my curiosity got the better of me. And what do you know. Someone is actually reading it! So far 156 people since I installed the counter a week ago in fact. Most, however, are probably just blog hopping as they really don’t stay long enough to actually read much, but almost half make a return visit. But, about 25 percent of readers spend 20 minutes to an hour – so either someone is reading or th

Wednesday I went to the doctor for a follow up visit since I’ve had a bit of a rocky winter with fatigue, frequent colds, infections etc. While I still got this cough, he listened to my lungs and they sounded CLEAR!! The fact that several visits in a row he’d heard some wheezing and crackling really was starting to worry me, especially since I can’t shake this cough. To be honest, my mind won’t be completely at rest until my next NIH visit and they do complete lung function tests and a CT scan. But, I’ll take perfect sounding lungs for now. He thinks the continuing cough is more asthmatic and allergy related, so we’re tinkering with medications. It’s too early to tell if that’s really helping. Also, big kudos to Hank, the volunteer from church who took me to the doctor. Poor Hank! I’d asked him to come at 7:15 a.m. to allow us plenty of time as I’m bad at giving directions, and there’s been a lot of construction around the hospital. I thought parking might be a problem. So, dutifully,

This morning I woke up and walked down the small hallway to my kitchen to start the morning and noticed the carpet was wet. I turned on the light to discover water everywhere. There was standing water in the kitchen, in the cupboards, and it had been soaked up by the carpet around the kitchen. As if I’m not behind enough at work! So, I spent the better part of the morning dealing with soaking up water and overseeing a plumber instead of being at work. Tonight I tried to make up some of the missed time, and did to some extent, but as I’ve got twice as much to do this month – well, it just isn’t pretty. My cough, which had improved somewhat, was worse today again. I went to a Mexican place down the street for lunch since my water was turned off (and I had to use the bathroom) and my kitchen was torn apart. It seems if I get much exercise, the cough gets going and I seem to have a hard time recovering. I started hacking and everyone in the restaurant was staring at me, probably trying to

I had a crappy night last night. I felt fine, but I couldn’t stop thinking about work and all the turmoil there. From there my mind wonders to even bigger subjects that are hard to explain to anyone. I was laying there, thinking about how these are the things I need to be blogging about. That’s part of the point, after all – to tell our story. Yet, trying to describe what it’s like to co-habit with Hermansky-Pudlak Syndrome, even when you’re in pretty good health, is like looking out a gigantic panoramic picture window and trying to describe it to someone else looking out the same window through the center of a roll of toilet paper. They can see what you see – but how do you get them to appreciate the view in its entirety? The picture is so big, so interwoven, that it’s hard to explain just a section at a time. Sometimes I feel like living with HPS is like having a double life. I feel like I’m straddling two worlds with a foot in each. On the one hand, you can’t dwell in the HPS world,

Happy Easter! This will be a quickie folks! I felt great today! And not just good either, but actually great! Trouble is on these sorts of days I have a hard time focusing on what I need to do because I’ve got so many things to catch up on – so I tend to bounce from task to task and then, at the end of the day, there’s no real sense of accomplishment. But, hey, I feel great! I made it to church this morning, even though I did have a pretty sleepless night because my joints were hurting. They woke me up about 3:00 a.m., but I didn’t want to take anything because I was determined to make it to church on Easter of all days. Tylenol does nothing for my joint pain, and the stronger stuff (which I almost never take) makes me sleepy. I wasn’t going to risk sleeping through my alarm – again! After the service I went downstairs, but no one was there. I’m not sure if something else was planned, if I was just too fast, or if everyone just had family plans after church. Quite often I’m sort of out

If you’re a history channel junkie, like me, Holy Week is chalked full of all kinds of interesting documentaries centering on the events of this week 2,000 odd years ago. I don’t typically have much time to watch TV – and this week was no exception – but I do listen to it in the background as I do other things. One documentary (not sure if it was on the History Channel, the Discovery Channel, or the Science Channel) was a medical look at the crucifixion. This researcher had constructed a cross in his lab fully outfitted with sensors and he persuaded volunteers to endure a mock crucifixion on his cross (taking care that they weren’t actually physically injured.) Apparently, there has been some debate over the years as to just how Jesus would have been nailed to the cross in order for events to have unfolded as they did. If the nails, for example, were driven through the palms of his hands, as opposed to his wrists, how would the force and weight have affected how he died, and how long w

Ahhhh…it must be spring. It’s Holy Week. My allergies are going bananas at the beautiful blooming trees outside my windows, and the first idiot of the year has suggested I do something about getting a tan. The issue of color seems to come up for me every spring amid ever shortening sleeves and pant legs. As the weather warms, and everyone else soaks up the sun, my pale skin becomes more obvious. Yesterday I was sitting outside my office building during lunch in the shade. Someone from one of the other offices came out and informed me that if I sat about three feet over, I could sit in the sun. (I use a long white cane, and thus people sometimes assume I’m totally blind. He probably thought I wasn’t aware a sunny spot was so close.) I politely thanked him and said that actually I prefer the shade. For most polite human beings, that would have been answer enough. But no. I couldn’t see this person well enough to tell how old he was, but he started beating some type of ball around with hi

Photo: Donna Appell, president and founder of the Hermansky-Pudlak Syndrome (HPS) Network, and Lisa Young, a pediatric pulmonologist with an interest in HPS, at the American Thoracic Society Annual Meeting in San Diego in 2005. Thanks to everyone who’s e-mailed me to check up on the cough. As my co-workers will tell you, it’s still here. Tuesday I thought I’d about kicked it. I even went to church, ran some errands etc…but Wednesday it was back. It’s still much improved over last week, but not quite gone. Paul, who sits behind me at work, said yesterday, “Geesh Heather, just listening to that makes my ribs hurt.” Yeah, makes mine hurt too! It’s almost as though I can feel everyone wincing after a particularly bad run of it. The other problem is it’s slowing me down at work. While it isn’t a constant cough, once I get going the coughing can last 10 to 15 minutes, after which I feel exhausted. I also feel like my brain is rattling around in my head and I go back to whatever I was writin

Note: The following blog entry, I want to stress, is my personal opinion. It's a blog, so it should go without saying, but just wanted to point that out in case anyone should get confused. A few days ago I was flipping through the radio dial and stumbled on a news report about our fearless leader, President Bush, on the stump for his scheme to save us from our medical bills – health savings accounts. Brilliant! I’ve just been so busy on a shopping spree - buying up all the Serevent, Abuterol, Singular, Flonase, DDAVP, ostomy supplies and CPAP masks I can find - that it never occurred to me if I were just a tad more frugal and saved more I might be better able manage my medical bills. Come on George, are you kidding me? I’m not saying that health savings accounts might not be a good idea, in the context of a much, much, much more comprehensive plan to deal with America’s health care problems. I’m just saying that for the vast number of us being eaten alive by medical bills, the idea

The following article appeared in the West Valley View paper in Arizona. Candice and Crystal Sipe are celebs in the Hermansky-Pudlak Syndrome community. They sing at every HPS Family Conference, and they've represented HPS all over the place, including the celebration of the Human Genome Project a few years ago. At this year's conference they gave me a CD of their music, and it's one of my most treasured CDs. Here, the twins are pictured performing at this year's HPS Family Conference. Angels in Voice perform with personal passion Kristen Smith staff writer Crystal Sipe always stands on the right. Candice Sipe always stands on the left. They can't sing any other way, even when practicing in the music/crafts room in the Avondale home they share with their family. It's the only way the 25-year-old identical twins can transform their raspy, throaty voices into pure, deep wine. They sing the way they finish each other's sentences; in perfect harmony. They call t

I did it again. I slept through church. This is really getting to be a bad trend. Once again, I started out with the best intentions. I even laid out my clothes the night before, washed my hair etc. so all I’d have to do is jump out of bed, get dressed, and get out the door. The church is only about three to four blocks away. How hard is that? But, after a Saturday when it seemed my sinus infection was improving, Saturday night wasn’t so hot. I couldn’t fall asleep, and every time I got close I started hacking. The cough drops were used up, and the nice soft tissue is gone too – leaving only water and toilet paper. I finally think I fell asleep around 3:30 a.m., only to be startled awake at about 5:30 a.m. by a very loud thump, thump, thump. I shot straight up in bed it was so loud. I wrapped the quilt around me and timidly peaked around the corner of my bedroom door, half expecting to find someone trying to pound down my front door. Finding the door still locked, I started checking th

As I've said on previous posts, I want to start to build a more complete picture of the story of Hermansky-Pudlak Syndrome or HPS. To do that, I want to include stories and comments from a variety of people from the HPS community. To that end, here's an autobiography written by my friend Karen about her life and how she came to be diagnosed with HPS. The picture of Karen was taken when we were in the hospital together at the National Institutes of Health (NIH) to undergo a lung lavage for research. Karen's daughter has a tradition of sending her mother off to the hospital with a companion. This time, it was the elf. Hi, I'm Karen Tillman and this is my story. I am starting at the beginning of my life, as that is where it begins. You will soon see however that the journey to my diagnosis has been long as I was only diagnosed with Hermansky Pudlak Syndrome in 2002, and yet have had the disease since birth(1964). I hope that you will find this story both interesting and e

Hack, hack, wheeze, hack, bark bark ….groan. This has been me for the last week. I’ve contracted yet another sinus infection, the third one since the first of the year not counting the three weeks of extreme fatigue that felt like mono, and the stomach flu I had in January. Things that make you go hmmm…..and yes, I do take vitamins. (Everyone asks me this all the time.) My sides ache from the coughing. I feel bruised and sore, as though I’d been hit a few times in the ribs. My voice comes and goes and my throat is scratchy. This time I didn’t go to the doctor, but if this cough keeps up I’ll have to cave in and do it. If I went to the doctor every time I’m supposed to go to the doctor, according to Kevin at NIH, I’d just quit paying rent on my apartment and take up residence in the waiting room! I feel like I always have something – never serious – just annoying and tiring. The cough is better today for the first day though. I actually walked three blocks without panting and hacking up

Well, this is a test. I want to see if I can figure out how to add a photo without losing my bio. This image, if it works, is of my brother Ryan, who also has Hermansky-Pudlak Syndrome. I'm using this one because I don't think Ryan will mind. Julie, our friend, also pictured, has albinism, but not HPS. Long story.

A friend of mine, who writes for the South China Morning Post, called last night to pick my brain about blogs. Apparently, he’d decided to do a story, or column, or God knows what, on the subject. “Did you know there are 33 million blogs out there?” he asked me. “How do they know?” I replied, trying to imagine the technocrat charged with the duty of counting blogs, one, two, three….He gave me the source, which I still haven’t looked up. Tonight he called to tell me that I too could one day be a famous writer thanks to my blog. He’d interviewed a woman who apparently has sold 250,000 copies of a book that was published from her blogging – something about emotions and food – some sort of cookbook. (I’ve really got to look this up now.) “Why do they do it?” he asked, forgetting that I’ve joined the ranks of the bloggers. “Because we don’t all have columns in newspapers to vent our spleens like you,” I explained. He’d discovered what I’ve learned the past two months that I’ve explored blog

With the week already off to a rocky start, I went to work Tuesday feeling pretty good. I’d finally been able to get a decent night’s sleep. I went into work early and started cranking out all the things I was behind on. Then, about 11:00 a.m. I felt an itch on my side. In 1992 I had an ileostomy to remove my large intestines and rectum. They’d become so inflamed and covered with bleeding ulcers that there was no alternative. I remember refusing to sign the consent forms until one of the doctors came in, sat on the side of my bed, and calmly explained I was bleeding so much that if I cared to see Friday I'd let them do the surgery. It was a Wednesday, I think. Back then I didn’t know that my colitis, which at the time was called Crohn’s Disease, was actually colitis of Hermansky-Pudlak Syndrome. Since then I’ve lived with my ostomy fairly well. While it’s occasionally very irritating, as it was on Tuesday, there’s no doubt I’d do it all over again in a heart beat. My quality of lif

Monday morning, after the sleep study, they finally let me out of the sleep lab around 5:00 a.m. I had several friends offer to pick me up at the hospital, but I didn’t have the heart to call anyone that early. So, I called a cab. Evidently my request for a cab didn’t make it through the 6:00 a.m. shift change, and by the time it was 7:00 a.m. I gave up and called my friend Tina. She and her dad came to pick me up, and wouldn’t you know, there was construction blocking off the main entrance. Since I hadn’t seen it the night before, I didn’t know how to tell them to go. Kudo’s to Tina’s dad for being so patient. I went home and slept until noon, then got up and did some work. Then I fell asleep at my computer for a few hours before I got the rest of my eight-hour day in. Yawn.

Last Sunday night I went for my sleep study – an experience that was something akin to holding one’s eyes open with tooth picks and watching grass grow. For a test where they barely touch you, and all you have to do is sleep, it was torture. The last time I did a sleep study I felt sure I’d never fall asleep, but I did fairly quickly. This time, after falling asleep at work, on the bus, and pretty much everywhere else, suddenly I couldn’t sleep to save my life. Pastor Pat called it “performance anxiety.” That made me chuckle as it’s probably true. Knowing how hard it would be to sleep at the sleep lab with wires dangling from everywhere, I did everything possible to ensure I’d be exhausted at the appointed time. I stayed up super late the night before, and got up early on Sunday. This backfired, however, as I fell asleep again Sunday morning and missed church. I arrived at the sleep lab feeling about as awake as I’ve felt in weeks. Totally alert. Totally awake. Feeling great! Of cours