Living on the frontlines

Today was the day my earphones arrived. When I ordered them they said it would take three to five days. Today was three days and all day I wondered if they’d be by my door by the time I got home. Would I finally overcome Mr. Boom Boom? I was talking to Carmen C. on my mobile phone as I came across the apartment parking lot towards my door. I could already hear the stereo cranked up. His windows were all open so it was hard to miss. I opened the door to our hallway and sure enough by my door was the prized box. Yeah!!!! After I got off the phone with Carmen I immediately put the headphones together. The stereo was like the other night, even unusually loud for Mr. Boom Boom. He was playing a sort of mix of Spanishesque and jazz music. I sort of liked it (although the rudeness of blasting the entire neighborhood still grated at me.) Eagerly I tried on the earphones. They didn’t help with the booming. AAAAHHHHHHHH!!!!!!!! Defeat! I don’t regret the purchase. While the base on the stereo ne

Boy am I behind on the blogging! I've got a lot of fundraising news to share! First, please everyone give a big congrads and kudos to Candice and Crystal. Last Friday they held their annual HPS Benefit Concert and raised more than $2,000 for the Hermansky-Pudlak Syndrome Network. Way to go!!!! They also had a lot of help and guest appearances from friends and family. Yet another event I'm sorry I can't go to in person as I would SO love to be there!!!!! You can read more about it on their blog www.angelsinvoice.com . Clips from the concert will be forthcoming in a few weeks. But, in the meantime, check out the video clips that are already up on the site from last year's concert. Candice and Crystal have the most amazing voices. BTW - Thanks Sipe family for the DVD - it came today but I haven't had a chance to see it yet.

Karen Tillman recently brought the following MySpace page to my attention and I thought I'd share it with the Hermansky-Pudlak Syndrome community. As most of you know many people with HPS develop digestive problems that are "Crohn's like." Estimates vary as to how many of us develop these issues - but somewhere between 15 to 20 percent of us. For some of us the colitis seems to be somewhat mild - a sort of nagging irritable bowel. Some of us have more severe symptoms, but they generally respond to medications. A few of us have quite severe symptoms that don't respond well to medications. I'm also one of the HPS'ers that has had this experience. At 19 I had an ileostomy to remove my colon and rectum. At the time I didn't know the troubles I was having were caused by HPS. This is the MySpace page of a 25-year-old guy from Boston who also has "bowel issues." He's made a documentary film about his experiences and has quite a following on MySp

Dr. Collins is someone I've been lucky enough to hear speak several times. If I ever get to have grandchildren, I've no doubt that honor will give me bragging rights. Today Dr. Collins was talking about his book, The Language of God, on the NPR program "Fresh Air." It was a great interview and one I know several of you will find interesting - whether you agree with Dr. Collins or not. His book is on my list of books I'm dying to read. I have no idea when I"m going to squeeze that in. Grin! But, judging from this interview, I think Dr. Collins and I are on the same page about a lot of issues - and having been verbally beaten up a bit in some Christian circles for those beliefs - that was kind of a nice feeling. Anyway, you'll have to go to this link to listen to the interview or download the podcast. http://www.npr.org/templates/story/story.php?storyId=9207913

I know this won’t find everyone, but Yahoo won’t let me post to the list this morning. As I know many list members also read the blog, thought I’d post here about what’s going on. If you all would help pass the word, I’d appreciate it. Yahoo is upgrading its groups feature. This is great, but every time Yahoo upgrades, we have technical problems while they’re doing it. This morning I got to work to discover there were 36 messages on the HPS Adults yahoo group. Now, I know this is the chatty group, but that’s a bit much even for you all! It turned out a message I’d sent through from Dr. Young actually went through 18 times. Another from Candice and Crystal went through nine times. And so on…… I just tried to post to make you all aware of the problem, but it won’t let me post. I’m doing everything I can to make sure everyone isn’t drowning in duplicate e-mails. Also, as I was flying through these messages, it’s possible I deleted a non-duplicate by mistake. If I did, I’m sorry! Just want

I’ve got to be honest. Tonight I’m feeling a bit cranky. I feel the need to whine, complain, and otherwise vent. I hate it when I feel this way, as if I’m overwhelmed with life and feeling generally pretty negative about it. We all have our moments. The trouble is that while intellectually I know that everyone feels this way sometimes – and that if I just whine I’ll feel much better afterwards having just gotten it all out of my system, I still always feel guilty for whining. If there’s anything about working in the HPS community, it’s that as bad as life seems sometimes, you’re always aware of someone, or several families, who are struggling with issues way more important than the petty things that weigh us all down. Today was just one of those days. It wasn’t that I wasn’t efficient. I wasn’t having trouble concentrating. I can’t say I felt fabulous, but I didn’t feel really bad either. I just plugged through my list of things to do all day long, yet it seemed like at every turn I wa

Today was one of those days. It started off great. I felt great. The weather was perfect, at least perfect to me. As I stood waiting for my bus it was 64 degrees and cloudy with a slight mist in the air. Ahhh…..rain and cloudy days – perfect. I arrived at work and started in as I’ve got tons to do and I’m behind on the next issue – again. And then I felt it. An itch. I scratched. It still itched. I tried to ignore it, but it itched more. I went to the bathroom and sure enough, poking through the surgical tape that helps to secure my ostomy pouch I could see a leak in progress. It hadn’t yet managed to sneak out of the tape, and onto my clothes. Great. Just great! Could I please just get through one week without having a health related issue interfering with my work day? Why didn’t it do this when I was at the wound care clinic last week? Oh no, it had to be on its best behavior then. Our editorial assistant works a full day on Mondays. She’s a college student and this is the only day o

Many of you have helped to advocate for this legislation, thus I thought you'd like an update. This came out from the Genetic Alliance today. Way to go folks! In a world so sharply divided by partisan politics, isn't to great that there are still some issues that our representatives can come together about. Notice that the vote in several of these committees was unamimous. Lets hope that holds true when it hits the floor of the House of Representatives. I'm sure more calls will be needed then, so stay tuned. GINA Approved by All House Committees GINA has been approved by all three House committees ofjurisdiction. On March 21, the Committee on Ways and Means approvedGINA, and two days later, on March 23, the Committee on Energy andCommerce approved GINA unanimously. The bill was unanimouslyapproved in the Committee of Education and Labor weeks earlier.GINA will go to the House floor soon after the spring recess. To learn more about GINA, please visit: http://tinyurl.com/2xt

One of the most common questions we get asked is how many people are affected by Hermansky-Pudlak Syndrome. It sounds like a simple question, but it’s not. The problem is we could tell someone how many people we have on the patient registry. We could tell them how many people we estimate are affected in places like Puerto Rico and Japan – but really these numbers would be somewhat misleading. HPS is so rare that I firmly believe there are people walking around with HPS, possibly even very symptomatic, who have no idea they’ve got HPS. They know they have pulmonary fibrosis, or colitis and that problem is likely overshadowing their lives. Who cares about albinism when you can’t breathe? I don’t mean to say I think HPS is common, but I also don’t think it’s as rare as our numbers might suggest. This past week helps to prove the point. On a single day last week we had five new families register with the Network. Count them – five. And that’s just in one day, albeit not a typical day. Thes

I’m really sorry I haven’t posted about my tests on Wednesday yet. It’s been a totally crazy week. You’ll have to take my word for it when I tell you I had bigger fish to fry. So, first the good news. My kidneys and bladder appear to be one organ system in my body working just fine! They did send more fluid out to another lab to test for a few things, but according to the scope, everything looked fine. The doctor said, “Don’t trade your bladder with anyone.” Grin! Of course the blood is still in my urine, but I think that this point they're willing to chalk it all up to having a bleeding disorder. The procedure, however, was really not fun. Thankfully, it was relatively short. Truth is I’m a medical weenie. I have a low tolerance for pain. When I was a kid I was so afraid of getting my blood drawn that I’d pass out almost every time. When I was about 14 Ryan needed some dental surgery. The doctors were trying to get to the bottom of our bleeding issues. They sent us to Lahnstuhl Am

The importance of funding for the National Institutes of Health is a no brainer for those of us with the Hermansky-Pudlak Syndrome type of albinism. Were it not for an institution like NIH, there would likely be very little known about HPS and there likely would be no clinical trials investigating better treatments and searching for the cure. HPS is rare. Very rare. It’s hardly the sort of disease that’s going to make a pharmaceutical company zillions. We HPS’ers, in general, aren’t exactly teeming with lots of extra cash of our own to fund HPS research. If we had to wait until the HPS community could raise a few million dollars to fund research, we’d still be waiting. It’s the unique position that NIH has as a government agency that makes our research possible. NIH isn’t interested in profits. They’re interested in cures. They’re interested in research that can make life better, not only for people with ultra rare disorders like ours, but they’re interested in what they can learn from

When I was in college attending the University of Kansas they used to sell these T-shirts in the student union that read, "My kid and my money go to KU." With several doctor appointments tomorrow I feel like my money is still going to KU. I feel like I should get my name on a brick or something down there! Grin! A while back Ana posted the following poem to the HPS Adults yahoo group. I'm really relating to this poem tonight as I dread tomorrow's poking and prodding. The New Alphabet: A is for Apple, and B is for Boat, That used to be right, But now it won't float! Age before Beauty is what we once said, But let's be a bit more realistic instead. Now A's for arthritis; B's the bad back, C is the chest pains, perhaps cardiac? D is for dental decay and decline, E is for eyesight, can't read that top line! F is for fissures and fluid retention, G is for gas which I'd rather not mention. H is high blood pressure--I' d rather it low; I for incis

Thanks to my friend Tina for this recipe - another for the non-cook collection! Ingredients 1 large can pairs 1 large can pinapple 1 large can peaches (cut peaches in half) 1 large can appricots 3/4 cup brown sugar 2 heaping tablespoons curry powder (yellow kind) Method Drain the fruit and dump it all into a 9 by 13 pan. Sprinkle brown sugar and curry over the fruit. (I always add a bit more curry just because I LOVE curry.) Bake for 30 minutes at 350 degrees. Serve.

The following alert went out today from the Genetic Alliance. Several of you have asked me how this is going, so here's the latest from Genetic Alliance. Help GINA move successfully through the Committee process Tell Energy and Commerce members not to weaken GINA The Genetic Information Nondiscrimination Act (GINA) has made it to the final stretch and now faces opposition in committee that threatens to weaken the bill. Tell members of the House Energy and Commerce Committee that we won’t stand for this! Please call the staffers of each of the Committee members before the Committee marks up the bill on March 22. A list of staffers is provided below, or download a spreadsheet version . Use the Hide sample to chat with them or leave a voicemail message. Sample Script My name is [YOUR NAME HERE]. I am a member of [NAME OF YOUR ORGANIZATION HERE] and a supporter of the Genetic Information Nondiscrimination Act, or GINA, (H.R.493). I called to express some concerns with the Energy and C

I haven’t had a chance to blog about this, but last weekend I met another local family with a child that has albinism and we all went bowling (part of the NOAH bowl-a-thon.) We had a blast! I love kids and so rarely get an opportunity to “hang with kids” these days. My godkids now live too far away for me to see them very often. I don’t volunteer as much with Adventure Fitness because of all my other duties. Yet, I’m one of the only single people I know with a stocked toy box, a doll house, kiddie chairs and tables, and sippy cups in my cabinet (left over from the days of regularly caring for my godkids.) I finally pitched the bottles. None of my godkids are into bottles anymore. They were a completely delightful family. (And yes, before everyone with HPS asks, they’ve checked that out and their daughter does not have HPS.) I had a bit of a giggle though because they kept handing me the baby and the mom would say, “We really didn’t ask you to come bowling to baby sit.” She had no idea

This is one of my favorite German side dishes. I don’t get to make it very often because the cabbage doesn’t like me very much, but when I have company, I love to make it. Ingredients 1 ½ ounce butter 1 to 1 ½ pound shredded red cabbage juice from one lemon 2 apples peeled and diced 2 tablespoons red currant jelly (be generous on the jelly) 2 cloves 2 tablespoons beef stock Steps: 1. In a heavy bottomed pot. Add the cabbage and pour over the juice from the lemon. The lemon juice helps keep the cabbage looking red. Add in the beef stock, the cloves, the red current jelly and the apples. 2. Mix all the ingredients together well and simmer for 10 to 20 minutes. The cabbage should not be overcooked, but if it needs more you can keep it going on low heat. If the flavor isn’t sweet enough, you can add a bit more jelly.

You might think that having an ultra-rare genetic disorder that has the potential to be life threatening wouldn’t have an up side, but you’d be wrong. Don’t get me wrong. I’d love nothing better than a cure. But, this week I’ve been thinking a lot about how lucky those of us with HPS are to have one another. I get a lot of calls from fellow HPS’ers and often it isn’t about a medical crisis or the need for information for a new doctor, or even just a need to vent. Often the calls are from one HPS’er whose worried about another HPS friend. These often put me in an odd position. I can’t share anything about how someone is doing without their express consent – and frankly much of the time I don’t know any more than the person calling to ask. For example, a lot of people follow Katy’s blog and call wanting to know if I know how she’s doing. What I know is on the blog, and if I knew anything more I wouldn’t share it anyway. Yet, I’m constantly impressed by how everyone worries and looks out

Yesterday’s CT with contrast was a piece of cake. I didn’t expect it to be a hard test, but I’d never had one with contrast before. Everyone was telling me how it would feel, and although I didn’t expect it to be painful – I was still nervous about what exactly it really would feel like. As they put the contrast in I suddenly felt flush in my face and neck. My tongue felt like it was swelling up and for an instant I was worried that I might be having an allergic reaction to the dye – but as soon as I managed to say, “Hey, I think my tongue is swelling up” it was gone. I had been told that as the contrast went through my kidneys and bladder, it would feel as though I were wetting myself (not that I really would be – it would just feel like it.) But, I had no such feeling. After the initial feeling of being flush was gone, that was it. Simple! Now, next week is the “scope.” There’s something about having a tube with a camera passed into my bladder that just doesn’t sound like my idea of

Today I saw the urologist. After now two and a half months of everyone being concerned about these microscopic amounts of blood in my urine, I finally got to the specialist. Being the way I am about doctors, I looked him up and checked him out before the appointment. There wasn’t too much out there to give me much of a clue about his personality, or how to relate to him on a personal level – but the one thing I did find out about him is that he’s been practicing medicine since 1955 – nearly two decades longer than I’ve been alive! I concluded that either he’d be an old fart dinosaur, or he’d be a really awesome doctor. The visit was short. I peed in the cup, yet again, and yet again there were the trace amounts of blood. The doctor came in and immediately started asking questions about HPS. I was impressed as they were good questions and he’d obviously read all those forms I filled out. You’d be surprised how many times I’ve been to a doc, filled out all that medical history stuff – an

One of the biggest jobs of the HPS Network is outreach. No one, especially doctors, believe me when I tell them most of the calls we get from people suspecting they’ve got HPS and seeking testing come from patients who have found us pretty much on their own. Referrals from doctors are pretty rare. Because HPS is so rare, most people that have it are probably completely unaware the syndrome exists. They likely know they have albinism. They may or may not (depending on the severity) be aware they’ve got a bleeding disorder. If they’ve got bowel issues they’ve likely been told they have Crohn’s disease, or irritable bowel syndrome. And, often those with breathing problems have been told they’ve got asthma or pulmonary fibrosis. Doctors have a tendency to focus on the part of the body that they’re experts on – the lungs, or the guts or the eyes – and sometimes they miss the picture created if you put all of those pieces together. Right now one of the biggest priorities of the HPS Network i

As many of the regular readers know, the HPS Network is a supporter of GINA, a bill that would prohibit discrimination based on a genetic pre-disposition. Our members that went to Gene Day on the Hill last fall helped to lobby for this bill. Now, it's being heard in committee. Below is the testimony of Sharon Terry, President and CEO of the Genetic Alliance. Testimony of Sharon F. Terry President and CEO, Genetic Alliance Chair, Coalition for Genetic Fairness Energy and Commerce Committee Subcommittee on Health March 8, 2007 Chairman Pallone, Representative Deal, and Members of the Subcommittee, thank you for bringing us to this moment and for the opportunity to testify here. Representatives Slaughter, Biggert, Eshoo and Walden demonstrate robust vision and courage to introduce again the legislation that will make it possible for Americans to benefit from new genetic tests and technologies. My name is Sharon Terry. I am, in some ways, the least qualified person to appear before you

More pics from the Tillmans! I got busy and missed some of these - bad Heather, bad!

More HPS Conference party video thanks to the Tillmans! I like this one because you can see Ryan dancing in it. Grin!

Have you ever had anyone ask you the wrong thing at just the wrong moment? That’s what happened to me as I was leaving work on Friday. It’s a perfect example of why the Briana Couture pod resonated with me so much. I don’t mean to whine. Right now I’m really not that sick. I know people who are really sick, and I’ve been really sick, so I know what that is – and I’m not it. But, at the same time, I’m also not 100 percent well either. I’m not the same person I was five years ago. I get tired more easily than I used to. My joints hurt from time to time. Sometimes my “bad breathing” acts up. Sometimes I just go through weeks of pretty amazing fatigue and no one seems to know why. I think because I do so much, they don’t always take it seriously. I’d say that most of the time I’m operating at 80 to 90 percent, which is good enough for most things on most days – but not necessarily everything. Some days, however, I’m operating at more like 40 to 50 percent. That’s the thing. You can’t tell

One of my favorite TV channels, when I actually get to watch TV, is Current TV. Instead of TV shows, they air independently produced shorts called "pods." It makes me wish I knew more about taking video and had some of the tools to do it. A while back I saw this "pod" and was thrilled when I actually found it on YouTube. Our situation as HPS'ers is slightly different, but I can relate to this very well. Often we HPS'ers may look very healthy. People, especially family, expect us to always act healthy. But, some days, we're just not.

Isn't this sweet? Sheena and Jeff took this video at the HPS Family dinner. It's Holly and Tommy Tillman, father and daughter, dancing.

Just a little brief health update. It’s been a better week. I’ve had no diarrhea, little joint pain and little back pain. I am still having quite a bit of reflux though and that’s keeping me up at night. I don’t think I’ve slept more than an hour or two at a time all week. I am SOOOO TIRED! Have you ever been so tired that you feel like you’re drunk? That’s me! Wasted on exhaustion! And to think that there are people who actually spend a lot of money and work at feeling this oblivious and giddy! On top of that I freelanced three nights this week. I hated to turn down the money. And, the Network has been a bit on hold this week as Donna’s been under the weather. So, why not? The money comes in handy for all those co-pays! Needless to say on the days when I work two jobs any hope of a healthy diet, regular exercise or other such things I really do know I need to be doing go out the window. Instead, it’s grab something on the way home from my “real job” before I log onto job two at home.

Karen Tillman posted this video link to the HPS Adults listserv a while back. Now Donna wants a copy for next year's conference. I just watched it again, and laughed just as hard as I did the first time. If you've ever had GI issues - you'd understand. Grin!

The following press release was sent out today by InterMune, the company that also makes Pirfenidone, the drug we're using in the Hermansky-Pudlak Syndrome clinical trial for pulmonary fibrosis. When I first saw this story today, it was in a San Jose, Calf. paper and they didn't actually report the name of the drug. My heart about fell into my shoes. As busy as I was at work today (and I was pretty busy) I hopped onto Google News and frantically searched for the press release to find out which pulmonary fibrosis trial they were stopping. When I saw it wasn't Pirfenidone I could finally breathe again. I"m posting this today for a reason. I don't want to scare everyone, or depress everyone - but it's a somber reminder that this is a clincial trial we're doing. They have clinical trials for a reason - because not all drugs turn out to work when they're tried on larger populations. But clinical trials are what you've got to do to get treatments. I still

For the first time since New Years, I took a day off – well, almost a whole day off. I did work on work stuff for about three hours. But, I also made a point to have some FUN! I haven’t done anything with my local friends in a long, long time. Last week I was supposed to go to Tina’s party, but I was sick. Tuesday I’m missing her birthday party because I have to work. So, yesterday afternoon Tina and I went donation hunting for camp fire. We walked around and asked businesses to donate things for the silent auction. The weather was beautiful. I felt great. And, best of all, I got some very much needed exercise. Afterwards we went to Echo and Karen’s for a game night. We had a wonderful dinner and a great time playing Phase 10. (It’s a fun game if you’ve never played it.) Tina B. was there as was Shannon, a former adventure fitness kid that’s all grown up now. She’s living with Echo and Karen for a few months as she has a part in a local play – a paying gig! I had a ball. It was nice to

My next door neighbor appears to have gone somewhere for the weekend, and I’m in heaven! This evening I’ve been sorting papers, filing things, watching TV, cleaning my kitchen – all without the now familiar sounds of explosions, shooting or a simply annoying base from the stereo. It isn’t that he’s loud really. It’s that the walls seem to be made of paper and he has recently acquired a TV with what appears to be a great sound system (if you’re in his apartment). He’s also discovered video games. He’s got to be pushing 40, but he’s definitely over there playing video games. That is when he’s not listening to his country or jazz music. He’s sort of a guy that, while not truly loud, perpetually makes noise. When I was sick last Friday and trying to sort out my insurance company problems I could hear him on the phone. I heard both sides of the conversation because he makes all phone calls while talking on speaker phone. It isn’t all his fault. I know that scientifically they’ve proven that

Donna sent me this press release today. She was asking if we might be able to use the service that distributed it. But, I thought I'd go ahead and post it here. Many of us with a history of the bowel issues of HPS were diagnosed with Crohn's Disease. In fact, it seems as though there's a whole debate about whether we've got Crohn's or somethng "Crohn's like." So, what do you have to lose? If you're wanting to go to school and you've got a history of HPS bowel problems, why not try? UCB Launches $300,000 National Scholarship Program for People Living With Crohn's Disease Scholarship Recipients From 2006 Pilot Program Announced ATLANTA, March 1 /PRNewswire/ -- UCB, Inc. announced today the national roll out of the 2007 Crohn's Scholarship Program, which will award 30, one-time scholarships of up to $10,000 to people diagnosed with Crohn's disease who demonstrate academic ambition and who are reaching beyond the boundaries of their con