Living on the frontlines

I’m going through one of those periods where I’m afraid someone will try to be really nice and drop by to visit me. If they did, they’d find a pile of clean, but unfolded clothes on the couch. Dirty dishes are piled in the sink, and clean ones are in the dish washer. There’s a stack of press releases from work I need to go through to decide if we can use any of them in one of the living room chairs. There’s a box of paperwork I’m in the process of sorting as part of my campaign to get rid of some of the boxes in my closets sitting by the TV. The carpet is sorely in need of being vacuumed, and the dust is so thick that even I can see it. I think if anyone dropped by I’d just pretend I’m not home. How do people do it? Why is it that everyone else can seem to juggle life, and I’m constantly overwhelmed by it? Friday I stayed home from work part of the day. During the night Thursday I woke up feeling very sick to my stomach. As I climbed out of bed I vomited right there on my feet. There’s

My life, and my ability to blog and stay on top of HPSland, have been somewhat hampered lately by my ailing computer. My computer is going on eight or nine years old. Like anyone dying of old age, it’s slowly winding down. It shuts its self off in protest frequently, runs much slower than it ever did, makes odd whirring noises and I can’t even defrag the drive anymore because it freezes up half way through. I’ve been saving money for a new computer for a long time. I don’t know a lot about computers. For me, it’s a foreign language – but I know what I want it to do. Periodically I’ve shopped for my new baby. But for now, things are so up in the air in my life that I can’t make any commitments, not even to a piece of machinery. Resources are too precious to spend without extreme caution. So, to tide me over these next few months, Ryan and Matt have come to the rescue. My brother Ryan just bought what sounds like the Royal’s Royce of computerland. He no longer needs his five-year-old lap

There has been some discussion lately among some of the HPS parents about their young children beginning to realize that they're a bit different than everyone else. Some of the kids are becoming aware that they don't see as well as everyone else, or that they look a bit different. The discussion made me think of an essay I wrote 10 years ago. To be honest, today I'd probably write this a bit differently - but I thought I'd share it anyway. I’ve Got the Power By Heather Kirkwood To say that one is different, unique or even odd isn’t saying much. It is, after all, part of the human condition that no two people, not even identical twins, are exactly alike. The one thing we universally share are our differences–our individual blends of DNA and life experience that shape our tastes and outlook on the world. When people come together, however, it is most often our similarities, not our differences, which cause us to commune with one another. Our common in

Let’s send a big KUDOS and Thank You out to the musical group “J.” Weekend before last this group, based in the Oyster Bay area on Long Island, held two benefit concerts for the HPS Network. They typically hold a benefit concert for us around Christmas time, but this year decided to do an extra event. The fundraiser was very successful! I don’t know how many years this musical group (they were known as Three’s Harmony before they became “J”) has been raising money for the HPS Network. It has to have been more than five years. To date, they are the second largest HPS fundraisers. Over the years, they’ve now raised more than $80,000 for us. What’s perhaps even more amazing is that no one in their family has HPS. They simply saw our need and have always done what they could to fill it. Now their mom even volunteers in the HPS office. THANK YOU “J”!

In the last four months the number of medications I’m taking seems to be multiplying like rabbits. The good news is I think they’re working. I may not feel perfect (maybe never will) but I definitely feel better. Currently I’m taking 10 different meds daily (although I hope when fall arrives I can drop three of them that are allergy related) and I’ve got five others I keep around for particularly bad days just in case. Frankly, managing that many pills is a chore. The study drug is easy. It’s become so engrained in my routine now that I don’t even think about it. The other drugs, however, have been in such a state of flux as we experimented trying to find just the right mix that it’s easy to get confused. Not only are there a lot of them, but each one has its “rules.” I don’t think breaking the rules is a major crisis, but obeying them tends to help the drugs work better. Some medications are to be taken so many minutes before eating. Others are to be taken with food. Some medications

As regular blog readers know, the HPS Network has supported the passage of GINA for years. Allowing people to seek genetic testing, free from worries about future possible discrimination, is critical. For many disorders, without genetic testing people can’t get an accurate diagnosis, and thus accurate treatment. For others, genetic testing is critical to being able to participate in clinical research. As I outlined in an earlier post, the test for the HPS type of albinism isn’t a genetic test. It’s a blood test. However, for patients to participate in certain clinical trials it becomes necessary to type test. For many, even these tests don’t yield any answers. We haven’t yet identified all of the HPS genes so there are undoubtedly several types of HPS not yet documented in the literature. But, for others like me, genetic testing did yield some answers and has allowed me to participate in the drug trial. But, if Americans are afraid that the results of genetic tests will be used against

If there ever was a danger that we’d get complacent in this battle with Hermansky-Pudlak Syndrome, there’s always some new story, some new patient’s experience, that comes along, rattles our cage, and reminds us of how much work there is still to do. Yesterday I received an e-mail from a woman I’ve e-mailed back and forth with on and off for several months now. I can’t get into specifics for privacy reasons – however, this woman could be the poster child for the HPS type of albinism. She doesn’t have just a few of the symptoms – she’s got them all. I sent her information about how to get tested. While testing for HPS is relatively easy, it’s not a test the average lab can perform. The blood must be sent to Dr. White at the University of Minnesota and reviewed under an electron microscope. Dr. White looks at the platelets with this special, high-powered microscope. If they lack dense bodies and the patient has albinism, then they’ve got HPS. Dr. White does the test for free. All any doc

I haven’t posted much this week because it’s been a long, long week. I am feeling pretty great actually. The funny thing about feeling much more “normal” is that the instant you feel good again, everyone expects that your life is instantly “normal” again. The reality is I’ve got a huge backlog of things that need to be done. This week I’ve worked 12 to 14 hours a day just about every day. This is a sweet kind of victory in that a few weeks ago I was struggling to make it through an eight-hour work day because of the fatigue. The only downside is I would have much rather spent those extra productive hours on HPS-related projects. But, a girl’s got to pay the bills – so the magazine won out. We’re supposed to go to press Monday, although I feel it will probably be more like Tuesday. It’s been a stressful week too in that so much is up in the air at work right now. Hopefully soon I’ll be able to blog about that, and when I can you’ll understand why I’ve been so edgy. Lastly, it’s been a t

Last night about 2:00 am I woke up to my ostomy itching. Bleary-eyed, I figured it was about to spring a leak, rolled out of bed, and squinted in the dark as I flipped on the bathroom light, and proceeded to change the ostomy. It’s two days early, but then again it’s summer and sometimes when you sweat these things need to be changed more often. As I cleaned the very itchy skin I noted bumps – lots and lots of bumps – that were quickly melting into one huge bump all around my stoma. As my eyes became more adjusted to the light I could see the skin looked bright red, and there were little white raised bumps amid all the red bumps. My face started itching, then my arms, and the rest of my stomach, and my back. Intense itching – I could almost stand there and watch the blotches appear. I started to have a scratchy throat, and cough some, so I quickly finished changing my ostomy and went for the big dog hive drug – hydroxyzine. Since I was coughing I thought it wise to jump ahead to the st

Since Ted Koppel’s documentary ran on the Discovery Channel about his friend Leroy Sievers and his battle with cancer, I’ve been reading Leroy’s blog . In so many ways the stories of the people there fighting cancer are so much like the stories of many people I know with the Hermansky-Pudlak Syndrome type of albinism. And, in so many ways they are very different. One of the topics of conversation that creeped up a while back among the regular posters to Leroy’s blog was the language they use to talk about their disease. Some people expressed an objection to talking about people “fighting cancer.” For them, all the analogies to a “fight” “battle” or “war” didn’t ring true to either their experience, or how they wanted to think about their lives with cancer. Of course that prompted me to rethink the very name of my blog. Am I setting up this experience, this very story, all wrong by referring to it as a battle? I’ve been thinking about it for weeks. The result, the title will remain the

I haven’t posted a health update since being on the new medications, so if for nothing than my own record keeping, I thought I should enter an update. On the whole I think I’m doing very well on the new meds. The first few days I had a bit of an upset tummy (this often happens to me when on a new medication). But, I’ve had minimal runny nose and watery eyes and no hives! I’ve also been a bit clearer in the head. I’ve still been tired – but then again last week I worked several 12-hour days and did a freelance story on top of that (and then there was HPS stuff). In all honesty, who wouldn’t be tired with that schedule? Yet, while I felt tired at least I wasn’t just falling asleep at my desk. My asthma has been a bit worse than usual this week. It’s been very humid here, and the humidity seems to affect me. This evening I walked a mile each way to the grocery just to get a few things. I just needed fresh fruits and veggies as I did a “big shop” just last week. Normally I can do that walk

Some time ago a little miracle happened. A friend of mine from pre-school and kindergarten found this blog. What are the odds? And, she remembered me! She actually remembers way more about those days than I do. I don't know why, but those days are pretty foggy to me. Today she sent me these photos of our little class. It was a special pre-school program for blind and visually impaired kids. Guess which one is me? Grin! Yep, the blonde! And for those of you who have heard Ryan tell the teacher biting story - the teacher on the left is the one I bit in the butt! For those of you who haven't heard that story, I'll steal Ryan's fun and tell it myself. When I was in pre-school, apparently one day I decided it would be funny to bite my teacher on the rump. She was sitting on the top of a slide on the playground watching all the kids, so I climbed the slide behind her, snuck up on her, and took a bite out of her backside. To be honest, I don't remember doing the crime, bu

You know you’re taking too much medication when: 1. Your “pill box” doesn’t have compartments – it has drawers. 2. Your medication can’t fit into a standard large purse. 3. When you fly, your carry-on bags consist entirely of medicine and medical supplies. 4. You must wear two watches with a standard three-times-a-day alarm to ensure you time your medication right. 5. When you go to the doctor’s office, you must request extra paper to list your medications. 6. Your pharmacist knows your name and your insurance company before you even tell her what you want. 7. Your medication co-pays are one of the largest line items in your budget. Anyone care to round this out to 1O?

Today I had a routine eye check up. Nothing special. I went ahead and scheduled it, even though I suspect I’ll be getting an eye check up at NIH soon, because I need a new letter certifying that I’m still legally blind. While the NIH will give me test results, they aren’t your local doc and I need a letter from my “regular” doctor. The results – yep – still 20/400, and still none of the lenses they try work. Most actually make things worse. But, perhaps the best part of the exam was after the doctor had examined me. He’d just finish flashing letters up on the wall, most of which I couldn’t see (unless they were huge). He dilated my eyes, and as we both walked out of the exam room he pointed down the hall and said, “See that sign down there, go sit down in that room while the drops work in your eyes.” I had to work hard not to just roll on the ground laughing! H E L L O ! Dude, I can barely see the big E on your chart. What on earth makes you think I can see the sign at the end of the h

If you’re a day trader, buy stock in CVS. I think their profits are just about to go up. I think I’m single-handedly responsible. Yesterday I heard from Kevin. I called him actually. It’s very unusual that I don’t hear back from Kevin, especially if it’s trial related. It turns out he’d written me quite the lengthy response, and I never got it. Our e-mail at work has been a little wonky, so I’m not surprised. NIH signed off on all the new medication, but they’re worried about one of the medications. Essentially, they’re okay with it as a short-term thing, but if I should need it long term it could jeopardize my being in the drug trial. I know they probably don’t fully appreciate this, but the mere mention of this possibility sends shutters through my body. I try to dutifully record symptoms, and hey, if we can make them better than that’s great. But right now I don’t have any symptom, hives and joint pain included, that are so severe I’d want to be out of the trial to treat it. I’d hav

Kelsey and Kaylan love to play in the courtyard of my apartment complex. They just run around in circles in the grass chasing one another. It's a riot!

It’s been a KUMed week. On Wednesday I saw the allergist/rheumatologist/immunologist. I complained that as well as the Zyrtec was working for the hives, it was making me give new meaning to the stereotypes about blondes. Somehow, it seemed as though my brain had left the building. There was the mistake at work, and other stupid things. I unloaded the dishwasher last week and put the silverware in the wrong drawer. How do you do that and not notice there’s no tray for the silverware? He decided to take me off the Zyrtec and the Hydroxine (sp?) Kevin gave me for breakthrough hives and try a mixture of three other drugs. So far I’m still on the Zyrtec as I haven’t gotten the clearance from NIH yet, and the minute I stop taking anything I’m a wreck. I’m a bit skeptical about the mix of drugs, but I’ll try it. He wants to try allegra, which has never worked for me, another drug that seems to be often prescribed for arthritis (probably because of the joint pain) and another drug that seems t

I’ve been thinking a lot about money and wealth this week. There are several reasons the topic has been on my mind. It’s partly the money I’ve been shelling out for doctors this week – two appointments. There’s the money I’ll be shelling out for the five new prescriptions I’ll fill just as soon as Kevin answers me and gives me assurance that each of these drugs doesn’t affect platelet function (I’m suspicious of one of them) and that I’m allowed to take these drugs and still be in the drug trial. I estimate the total, by the time I'm finished, will be around $400, with insurance. Then there’s the whole Paris Hilton uproar – although I hate star gossip, Paris was sort of hard to miss this week. And then earlier this week I heard a great piece on NPR’s “ Talk of the Nation. ” The program interviewed Robert Frank, a Wall Street Journal columnist who has written a book called “Richistan.” In the book, he writes about the uber rich as though they lived in a foreign place. Well, it’s cer

Kelsey, my Goddaughter, plays with one of my old babydolls. She also loves to play with my collection of sun hats!

I'm not sure that I quite understand this RSS feed thing (we use it at work and it's sort of annoying to me) - but if any regular readers out there have a program to get RSS feeds, you can now, supposedly, subscribe to my blog at: http://feeds.feedburner.com/ LivingOnTheFrontlines . If anyone tries it, let me know if it works!

Candice and Crystal Sipe are very well known to the Hermansky-Pudlak Syndrome community. Most of us are their fan club - grin! If you don't know Candice and Crystal, they are twins with the HPS type of albinism who have the most wonderful voices. They just posted a few video clips from their recent HPS benefit concert. Here are the links to the most recent clips, but I urge you to check out their blog too at www.angelsinvoice.com . Candice, Crystal singing and Niece Danielle signing Jesus at HPS Benefit Concert March 2007 click on link http://www.stanlucas.com/angelsinvoice/broadband/Jesus.wmv Candice, and Crystal singing I Bowed On My Keens and Cried Holy at HPS Benefit Concert March 2007 click on link http://www.stanlucas.com/angelsinvoice/broadband/I_Bowed_On_My_Knees.wmv Candice and Crystal singing I Will Never Leave you Alone at HPS Benefit Concert March 2007 click on link http://www.stanlucas.com/angelsinvoice/broadband/I_Will_Never_Leave_You.wm Candice and Crystal singing Th

Thanks to all those nice comments about Kelsey - I'll pass them along to her parents! Grin. Here's another pic of Kelsey and Kaylan, my godson, playing with a train and pretty much scattering toys all over my living room. Grin! This Fisher Price train belonged to me, and then Ryan, when we were kids. I very much enjoy having them around. They used to live pretty close and I'd care for them a weekend out of the month so their parents could have some time to themselves. No one thinks a single gal would take on two, sometimes three kids for several days, but I love it. (They have an older half brother in the household on the weekends when his father has visitation.) Their mom has Lupus and their dad has a whole host of medical problems - needless to say having a young family is tough and they can use some time. But now they live about an hour away. That doesn't sound like much, but I don't drive. That coupled with the price of gas and the fact that none of us have a l

When I tell you that someday I hope I have the time and resources to write a book about the rare disease community and some of the many wonderful and inspiring stories out there, I'm not kidding. Here's one for which we are all grateful. I took this announcement from the Genetic Alliance newsletter. 2007 Art of Advocacy Award Winner The Art of Advocacy Award pays tribute to a visionary grassroots leader who is harnessing his or her knowledge and experience to improve the quality of research, healthcare, information and support services for a specific condition or for a coalition of grassroots organizations. Attend the Awards Banquet. Register here . Abbey Meyers, National Organization for Rare DisordersTwenty-five years ago,” describes an industry representative, “this mother from Connecticut took the passion that only a loving and concerned parent can have and turned it into a vision that energized other parents of children with unmet medical needs stemming from rare diseases,

Hey everyone! I really do have a lot to blog about, but I'm just too tired. I've been doing some extra work for work so that I don't have to use any vacation time for my doctor's appointment tomorrow or the GI appointment on Friday. I'm just tired. So, to cheer up my whiny blog, I thought I'd share a picture of my Goddaughter playing at my apartment and acting silly.

I just thought I’d post something very quickly as I so much appreciate everyone’s concern and messages. I’m still here. The saga isn’t over yet. I got in trouble again today for last week’s error, and I’ll probably get in trouble again tomorrow. I’m sure the torture will drag out for awhile. The one good thing that has come out of it is that after this happened, I called the allergist trying to get my appointment moved up. When they told me they couldn’t do it, I started balling on the phone. Amazing what a few tears can do – I have an appointment tomorrow. It turns out my doctor had specifically requested that I see this allergist. I looked him up, of course, and reading about him I can see why she wanted me to see him specifically. He sounds like he’s right up my alley. He specializes in allergies, but also auto-immune disorders, asthma and has experience with pulmonary fibrosis. I just hope we can do something to reduce the medications. I think these are probably just really bad sea

Last week was not a good week for me. I made a HUGE mistake at work. It was the kind of mistake that was so stupid I can’t even explain how I did it. Well, I can, but the explanation isn’t good enough. I’m on so much medication trying to keep my allergies – the headaches, runny nose, sore throat, watery eyes, hives and breathing problems – in check that I feel like a walking zombie. Even on the days when I’m feeling very good, I’m finding my concentration isn’t its normal self. The result, I’m finding that I’m making little stupid mistakes at work. Not catching this thing, or forgetting to do that thing – until this last week when I made a huge mistake. All weekend I’ve had bad diarrhea and joint pain – is it HPS related, or is it just nerves knowing I’m walking into the office tomorrow morning and probably going to get reamed up one side and down the other? I can’t yet blog about the bigger picture at work, but let’s just say it’s bad enough to mess up badly; it’s worse given the othe

When you try to advocate for a drug trial for a rare disease, you expect certain obstacles. You expect funding issues, drug company issues, politics and medicine issues. But, who would ever guess a United Airlines counter clerk, or a Transportation Security Administration (TSA) worker screening passengers at the airport could potentially throw a treatment for an entire disease off the rails. Most of our drug trial participants travel to the NIH from Puerto Rico. Because of a genetic founder’s effect on that island, the Hermansky-Pudlak Syndrome type of albinism is more common there. In January a new Western Hemisphere treaty came into effect essentially requiring a passport any time you travel outside of the country. (It used to be you could fly to many Caribbean locations and Mexico with only your driver’s license.) The treaty does not, however, include travel to any U.S. territory. Puerto Rico is a U.S. territory. The people that live there are U.S. citizens, even if their identifica

Here's a picture of the San Francisco skyline with all of the sea lions in the foreground.

Here's Karen looking back at me!