Living on the frontlines

As I don’t have to tell many of you, women with the Hermansky-Pudlak Syndrome type of albinism have a whole set of issues related to our female health that our male counterparts never have to worry about. You know what I’m talking about – those long cycles that seem like they’re never going to end, or those heavy flow cycles that keep us at home for fear of creating a scene somewhere in public. Or, our stories of childbirth, especially for women who didn’t know they had HPS and weren’t prepared for bleeding complications. And, there are some lucky ones among us that have never had a problem out of the ordinary. Dr. Meredith, the OBGYN at the National Institutes of Health that has taken on the cause of women with HPS, is right now pushing a research proposal through the internal review processes at NIH in hopes of getting the green light to interview women at the upcoming HPS family conference. She’ll tell us more about the details in about a week – but I think the general idea is to pu

As many of you know, the Hermansky-Pudlak Syndrome Network is constantly trying to publicize our story in hopes of finding and helping more families impacted by this rare type of albinism. When I first became involved, I suffered from “the Oprah syndrome.” It’s a common malady among those of us desperate for help with stories to tell. Last year at a meeting of the Genetic Alliance, I heard someone else refer to it as “the Oprah syndrome” and after four years of having every relative and acquaintance tell me, “What you need is to get on Oprah,” it seems an apt name. No problem. I’ll get right on that. I’ll just call up my buddy Oprah and work something out. At one point I traded a few e-mails with a producer for Dateline NBC – but nothing came of it. Four years ago I organized a letter writing campaign to the Oprah show. At one point I had at least 200 letters and e-mails hitting Oprah’s poor producers a week – yet not one of us ever heard a response and after a few months our writers b

We always end the conference with something light and entertaining. By the end of the conference our minds are swimming from everything we've learned and we want everyone to leave feeling great! Last year Donna hired this comedian to do our closing session.

Another quick conference pic! These two girls are having a ball dancing at the HPS banquet. Everyone dances - kids, doctors and even me!

I’m sorry this blog has been pretty boring as of late. I feel like I’m in a non-stop run until I hit a wall and just completely collapse from exhaustion. I’ve been battling a bit of fatigue again. I’ve also been swamped with preparations for conference, some new HPS’ers that are understandably feeling a little shell shocked right now, and my magazine goes to press right at conference so I’m trying to get everything done in advance. It’s been crazy! On the health front I got good news on the kidney tests they sent away. No bizarre organisms or infections not picked up on the standard test. Also, no cancer cells were present. I do feel like I’m spending my day in the bathroom, but I’ve been drinking so much more water so that might explain part of it. Also, I’ve had the runs the past few days. Today I was in the restroom at work between 7:30 am and 4:30 pm a grand total of 12 times! I feel like I’m trying to get all this stuff done, and I can’t get really stuck into anything because as s

The following editorial appears in the current issue of Nature. They sum up the need for the Genetic Non-Discrimination Act very well. I thought you all would enjoy a read - and check out Nature - they've got lots of other cool stuff! Nature Genetics - 39, 133 (2007) doi:10.1038/ng0207-133 GINA, aGAIN Legislation to prevent genetic discrimination in employment and insurance decisions is essential so that individuals can make use of existing genetic tests to manage their own health decisions. This legislation is also imperative to protect those who volunteer for genetic research that will benefit others affected by common diseases. The Genetic Information Nondiscrimination Act (GINA), legislation to prevent the use of genetic information in employment and insurance decisions, has been introduced six times in various forms to the US Congress over the last 12 years and has been unanimously passed twice by the US Senate, but not by the House of Representatives. Proponents of the Act ha

Here a few HPS'ers enjoy dinner before the dancing gets underway.

We try to keep the kids as busy as the adults at the HPS Family Conference. Here the kids are showing off their craft project. This year I happen to know, grin, that the kids are going to the Long Island Children's Museum. I looked it up online and frankly, it looks like a blast! Lots of interactive displays and things to do for all ages. They're also going bowling and swimming and doing a craft.

With conference getting closer and closer, I thought I'd post a few more conference pics. Here Karen and her husband Tommy take to the dance floor!

The budget of the National Institutes of Health is about to come up as part of funding for the fiscal year 2007 Labor-Health and Human Services and Education (L-HHS) Appropriations bill. Most in the medical community are pushing for a 5 percent increase in the NIH budget. I'd push for more if I thought there would be any political steam behind it. Those of us with the Hermansky-Pudlak Syndrome type of albinism - or any of the other rare syndromes associated with certian types of albinism - have a unique, first-hand appreciation for the work of the NIH and the impact that institution makes on the health of Americans. Frankly, I don't know where we'd be with HPS research were it not for the NIH. Most other institutions weren't interested in HPS and finding clinical treatments in the beginning. We're ultra rare. We didn't have a few million dollars to fund research. The population of people with HPS is largely made up of groosly underserved populations. Most of our

A few posts ago I shared our big news about partnering with the American Thoracic Society to fund a research grant. In the world of pulmonary fibrosis, there are a lot of other players. One of them is the Coalition for Pulmonary Fibrosis. They are also partnering with the society to fund research. Here's their press release. People develop pulmonary fibrosis for a variety of reasons. Most of the research being conducted is done on idiopathic pulmonary fibrosis, or lung fibrosis that occurs for no known reason. It might be genetic. It might be caused by exposure to something in the environment. They just don't know. In our case, we know why we develop fibrosis - it's those genes. But, research that happens on IPF also has the potential to benefit us, just as our research has the potential to benefit the greater pulmonary fibrosis community as well. After all, we're not so different. Someday their fibrosis won't be idiopathic anymore. It's my hope that one day the

I very rarely get political on this blog. It’s on purpose. Although this is my personal blog and not an “official” outlet of news from the HPS Network, I believe that unity in the HPS community is of utmost importance. I don’t want to be the one to offer distractions. We HPS’ers are brought together from every corner of the globe, every religious persuasion, every ethnic group, every political stripe – and the only thing we have in common are our renegade genes. There are so many things we could disagree about, yet after watching some other patient groups get torn apart by the lack of a cohesive patient community (and the catastrophic effect it had on their research), I feel we need to focus on the things we have in common that are foremost to advancing a cure today. But hey, I’m human. I do have an interest in politics, and I do have opinions. So, I watched both the State of the Union address and the rebuttal with keen interest. So, tonight you’ll have to indulge me. While I’m not in

I’m reposting this letter from Holly Tillman. They’re fundraiser has run into a few obstacles this year, so I’m hoping to help them out by putting this up again. If you search the blog for Karen Tillman, you can read more about her story and find the YouTube video of the Human Race from last year. Karen's fundraiser goes toward granting scholarships to help families attend the HPS Conference. Dear Friends, Family and Faithful Readers,I am involved in a fundraising event to benefit the community of local nonprofit organizations by getting sponsors through a single donation. The organization I have chosen is the Hermansky-Pudlak Syndrome (HPS) Network because my mother, Karen Tillman, has this serious illness, and quite frankly I would like to find a cure or a way to help my mother deal with symptoms. HPS causes albinism, a visual impairment, a platelet dysfunction with prolonged bleeding, and progressive symptoms including pulmonary fibrosis, inflammatory bowel disease (similar to

Today I went back to KUMed for a follow up urine test and an ultrasound of my kidneys and bladder. I thought it would be a formality. My back pain (which the doc doesn’t think was kidney related, but I’m skeptical still) is gone. I haven’t noticed anything wonky with my peeing lately. I thought I’d go pee a perfect test, they’d look at the ultrasound, and I’d be in the clear. Well, it didn’t go quite that smoothly. My urine test is still showing blood in it. There’s no explanation for it. The ultrasound appears to be unremarkable. I still don’t have the “official” word on that, but the technician said I had, “a really boring bladder and kidneys.” That’s what we want. Enough of being fascinating. We’re aiming for boring here! But, there’s still no explanation for the blood. The doctor rattled off a number of other tests they could try next. They didn’t sound fun, and just what I need – another day off of work. Just great! She also mentioned my blood pressure which has been creeping up l

Pictured: Donna Appell and Lisa Young on the show floor at the American Thoracic Society. Last week we had big news in the HPS community, and I’ve just been too swamped with work and getting ready for conference to blog about it. But, as blog entries go, there couldn’t be a bigger development in our battle to the cure. For the first time, the HPS Network has dipped our toes into the pool of funding medical research in a substantive way. (We have had two projects before this – a small grant to a medical student to develop a bleeding history survey, and we contributed $25,000 to keep Dr. White’s electron microscope in business so he could continue to diagnose HPS.) The HPS Network is partnering with the American Thoracic Society (ATS) to fund a two-year grant. We’re putting up $50,000 over two years, and so is ATS. And, last week it became official. Dr. Lisa Young of the University of Cincinnati hospital is our very first grant recipient! Go Dr. Young!!!! And now the back story… Four y

Regulars will notice the new slideshow to the right. To be honest, I hadn’t intended to make one, but when I logged on tonight, there was a new toy. I thought I’d just take a moment to play with it, and presto – a slideshow lives! I’ll probably switch out some pics and play with it more later when I’ve got time. I just picked random pictures that I laid my mouse on first. It wasn’t really “planned.”

Well, it’s almost 2:00 am and I’m wide awake and feeling just great! Friday I was so tired. Today I slept way too late, but Friday night my tummy didn’t like what I fed it for dinner. I woke up several times in the night feeling a little sick to my stomach. So, I slept in Saturday morning and right into the afternoon. Now my clock is out of whack for who knows how long. To be honest, if I weren’t afraid of getting so far off track that I’m a zombie all week at work, I wouldn’t go to bed now. I feel so great! No joint pain and no back ache. And I’m in the “groove” getting tons done. Darn that bedtime! I’ve always been a night owl. In fact, it’s been my observation that many HPS’ers are night owls. I have no idea if there’s any connection – but when I check the usage statistics for the HPS adults listserv, it gets the most people reading their list mail late at night and early morning. I doubt I’m the only HPS’er up so late! Back in the days when I worked full time as a freelance writer

One of the realities of being very identifiably blind, or visually impaired (which ever term floats your boat) is that I’m often thrust into the role of diplomat for the blind – whether I’m in the mood for it or not. I use a long white cane, which is not terribly common for someone with albinism, but I’ve found it to be quite helpful for a lot of reasons. There are some days when I’m really up to the task. I’m patient and kind and understanding and look on the public’s questions or misplaced actions as teachable moments. It’s a chance to educate. And then there are days when frankly, I’m just not in the mood. This week I’ve been feeling better than I’ve felt in months. But, fatigue is still an issue (as it will probably be for the rest of my life) and by Friday I’m really looking forward to the weekend. I used to look forward to weekends for all the stuff I’d get to do – like going out with friends or volunteering. Now, I look forward to weekends because it’s a chance to sleep! Today w

I shouldn’t complain. The ice storms that have gripped the Midwest as of late haven’t cut off my power and I’ve been nice and toasty warm. But, I’m getting sick of the ice. Several years ago we had a horrible ice storm in Kansas City. I was without power for 10 days, living like a gypsy as I went from house to house of other friends as their power was restored. My street was one of the last ones to get power back in the city. It was so cold in our house (I was renting a house with a roommate then) that the water in the toilets froze. Since then I’m a bit panicky when I know ice is on the way. I make plans as if I’m starting off for an adventure to the great white north! This time I escaped the power outages. But, as the streets have been cleared and plowed and cleaned the sidewalks STILL remain sheets of ice. It’s like stepping onto an ice rink with your shoes on. The ice is probably about two inches thick, and as the weather warmed today, the ice on the sidewalks remained largely unto

My workplace is holding a fundraiser to raise money for a local homeless shelter. They came up with a cute idea, so I thought I’d share it in case anyone wanted to borrow it for an HPS fundraiser. They’re having a soup cook-off. About 20 employees are bringing in a crock pot of their favorite soup. The rest of us are paying $5.00 for a bowl of soup for lunch from one of the entries. There’s also a panel of judges and a prize involved. All the proceeds go to the homeless shelter. I thought it was a cute idea.

A few days ago I posted about my friend Karen's HPS fundraising project. Every year she and her friends get together and participate in The Human Race - an event to raise money for a bunch of different charities (although their team raises money for HPS.) As part of her daughter Holly's senior project, she made this slide show from photos at the event. The photos are a little blury, but I think that's because the formats had to be changed so they could upload it to YouTube. If you'd like to be a part of helping Karen's fundraiser, there's information about it just a few posts down. I know we'd all appreciate it.

The one thing we all love to do after the Saturday night banquet is dance! Everyone dances, from the little kids to the doctors. Even I dance - and if you know me you know I have no ability to dance at all! But, I'll occassionally make an effort at the HPS Conference!

This was registration at last year's conference. The woman in the front with the curly hair is an HPS legend. Her name is Carmen and she's quite a character. It never takes long to find Carmen at conference. She was in the first drug trial, is still on the medication, and is still here and kicking long after anyone expected her to be. I'm convinced it's because of Pirfenidone. She's lost two siblings to HPS, however. I feel as though I owe Carmen a huge debt of thanks. If it weren't for her and the others that went first, I wouldn't be able to be in the Phase III trial of Pirfenidone now.

I feel great. I mean I really feel great. My joints don’t hurt. I’ve been sleeping well. My back pain is gone, provided I drink about 12 to 15 bottles of water a day. My stomach doesn’t hurt. Nothing is bleeding. The only abnormality to my overall general health today is my frequent need to go to the bathroom because of all the water I’m drinking in hopes of keeping what seems to be kidney pain at bay. I feel like I could take on the world. The problem is I actually tried to do it. When I have days like this when I feel truly good all day free from fatigue or any of the other subtle maladies that seem to frequent my life, I feel as though I must do every single thing on my list of things to do all at once. It’s a precious day and I can’t waste a single minute of it. The result, however, is that I struggle to really get anything done. I’m like a nat flittering around in circles unable to land in one place. Nothing can wait. It must be done now. I strode into work today with what seemed

Kevin O'Brien, the nurse practitioner that cares for the adult HPS patients when we're at NIH, typically comes in Friday and hangs out in the hotel bar with the HPS'ers. He probably doesn't realize it, but in this patient community, that simple act goes further to winning the trust of the patients than all the medical-speak ever could. I've already had many inquiries wanting to know if Kevin will be there Friday night. Grin!

The following article was published in the Times Community Newspapers Clarke County, VA. Many people with albinism and we HPS'ers know Rick's work well. What I thought was really neat about this is that Rick's style and energy are so perfect for connecting with a young audience. Also, I thought it was neat that the paper published the kids' comments. Where was Rick when I was in junior high? Junior high was a hellish time for me as a kid. My parents had just gotten a divorce as I entered the seventh grade. I was in a new town, knew no one, and lets face it - kids are really cruel at this age. I got picked on a lot in junior high. Kids used to move those small round dark trash cans in front of me in the hallway during passing period so I'd fall over them. They used to call me names about the way I looked. They used to make fun of me in gym class when I couldn't see well enough to help out my team. I was always the last kid picked (except for the History B - I wa

Here Karen, Julie and Ryan finish up some lunch in the hospitality suite. It's a great place to hang out with friends.

One great thing about the HPS conference is the doctors are pretty available to speak to if you really want to ask someone a question. Here. Dr. Santiago, a geneticist from Puerto Rico, makes himself at home on the floor in the hospitality suite because it got so crowded there weren't enough places to sit. He's talking to Carmen and Donna. How often do you get a chance to sit on the floor eating lunch with a doc. while picking his brain?

The Hermansky-Pudlak Syndrome Family Conference is only a month away! I thought I might start posting some conference pics in preparation. Grin! This photo is of Dr. Swank and his wife. Dr. Swank retired last year, but the history of HPS research owes him much. He was a very key mouse researcher for many years and when he retired, he carefully found homes for his HPS mouse colony among doctors he thought would carry on the work. Here he's dancing with his wife at the Saturday night dinner.

I’m working on a freelance story right now that is disturbing my brain. Frankly, it’s creeping me out. I’m writing a business profile about a guy who’s making a million dollars a year figuring out much life is worth. I’m not sure if he’d put it that way. He seems like an okay guy, but essentially, that’s what it sounds like he does. He’s a forensic economist and makes his living helping attorneys on both sides of the court room during wrongful death or injury cases. He’s pioneered several theories or models for how to calculate the value of someone’s life. How much money would they have made? Who depends on them, and what is that dependence worth? For example, a stay-at-home mom, according to an interview I conducted today, is generally worth in today’s dollars about $30,000 a year for all that she does around the house (at least in Missouri). I’d argue that figure should be way higher, but that’s another blog entry. In the case of a child that has been injured as part of a malpractic

Many members of the HPS Network have projects they do to help raise funds to do all the things that we do. My friend Karen's project is to organize participation in The Human Race, an event in her area. She's asked me to share the following letter written by her daughter who is looking for sponsors for the event. As many of you know, we're not having the Groundhog Trivia Tournament in Kansas City this year - so this might be a great way for some of the trivia fans out there to still help out. The photo above is Holly, Karen's daughter, standing next to her senior project last year all about HPS. Dear Friends, Family and Faithful Readers, I am involved in a fundraising event to benefit the community of local nonprofit organizations by getting sponsors through a single donation. The organization I have chosen is the Hermansky-Pudlak Syndrome (HPS) Network because my mother, Karen Tillman, has this serious illness, and quite frankly I would like to find a cure or a way to