Living on the frontlines

Dr. Francis Collins, who was one of the docs at NIH in charge of the Human Genome Project, is going to be awarded the Presidential Medal of Freedom, the highest civilian honor our President can give. I'm personally a Dr. Collins fan. Although he would never know me from the millions of people he meets every year, I've met him a few times while representing the Hermansky-Pudlak Syndrome Network at different functions - mainly functions for the Genetic Alliance. He's always struck me as friendly, very approachable, and he's got a great sense of humor. One of the books I read this year was his book "The Language of God" where he discusses why his study of science in general, and genetics in particular, prove to him the existence of God. I've actually been meaning to blog about the book for some time, but it's a very heavy subject and I wanted to do it when I had both plenty of time and felt well - and those two moons haven't come together for a while

Once again, I’m going through one of my excessively tired sleeping jags. I don’t know why these happen to me, or whether there’s any connection to HPS, but I’ve had several periods a year like this since my early 20s. Suddenly, for weeks at a time, no matter what I do I can’t get enough sleep. I feel tired ALL THE TIME. I have had a stomach bug, and the past two days I’ve had the runs and joint pain – so maybe its connected to that – or maybe not. But, I went to bed last night at a reasonable hour, and woke up this morning at noon. I got up, showered, and tried to get moving, but felt like my limbs were made of cement. So, I laid on the couch and turned on the television. This weekend I’ve watched more TV than I’ve probably watched in months. I think it’s probably a blessing I slept through most of it. Could someone please tell me what’s going on with television??? I’m a little out of the pop culture loop. Maybe I missed something? Was Hollywood taken out by a bomb or something? There

After demonstrating my incredible grace by falling out of the bus, the week just got better. Grin. Here’s a little health update – again, probably as much for my own record keeping as anything else. Tuesday night I had a really bad night. I got sick to my stomach and threw up several times. Once you’ve done that once, and you still feel yucky in the tummy, it’s hard to go back to sleep again for fear you’ll do it again. Trust me – there’s not much worse than cleaning up your own vomit. YUCK! Wednesday morning I slept through my alarm and missed the bus. I still felt a bit queasy, but my tummy always feels a bit off in the morning. Usually, by the time I take a shower and get dressed, it’s better. No such luck. I ended up staying home with a fever, muscle aches and tummy that was having trouble even keeping my medication down. By Wednesday night I felt somewhat better – not great, but better. Thursday I went to work and felt pretty good in the morning, but crappy in the afternoon. Today

It’s hard to imagine that 31 years ago today I awoke to my Dad cooking pancakes. That’s right. The man that to this day never cooks had the box of Bisquick out with a little maple syrup and some butter and was fixing a feast of pancakes. At the time this sight made a bigger impression on my three-year-old mind that what had taken place at 2:31am that morning – the birth of my brother. Who needs a crying baby when you’ve got pancakes? When I arrived at preschool that morning, and was asked what had happened at my house, I proudly proclaimed that my dad had cooked pancakes. Ryan didn’t seem real until three days later when he came home. I came home from school and Ryan was in a baby buggy. Of course, I immediately wanted to hold him. I remember sitting with my back against the cushions on the couch as my mom explained how fragile babies can be, and then put a sleeping Ryan into my lap. His head was a solid white fuzz ball. He had a lot of hair, and it had a lot of static electricity in i

Below is a press release I just thought might interest some of you that have been following this issue. Alliance for Taxpayer Access www.taxpayeraccess.org For immediate release October 24, 2007 Contact:Jennifer McLennanjennifer [at] arl [dot] org(202) 296-2296 ext. 121 MANDATE FOR PUBLIC ACCESS TO NIH-FUNDED RESEARCHPOISED TO BECOME LAW Full U.S. Senate Approves Bill Containing Support for Access ToTaxpayer-Funded Research Washington, D.C. – October 24, 2007 - The U.S. Senate last night approved the FY2008 Labor, HHS, and Education Appropriations Bill (S.1710), includinga provision that directs the National Institutes of Health (NIH) tostrengthen its Public Access Policy by requiring rather than requestingparticipation by researchers. The bill will now be reconciled with the House Appropriations Bill, which contains a similar provision, in another step toward support for public access to publicly funded research becoming UnitedStates law. “Last night’s Senate action is a milestone

Tonight's entry will be short. I"m having trouble typing. This morning it was pouring down rain outside. When I went to step off the bus, the steps were wet and slick and I went down like a sack of potatoes. I felt my one foot slip and it was all over before there was anything I could do about it. Of course, when you're legally blind everyone thinks it had something to do with not seeing. That had nothing to do with it. It was slippery and I just slipped. Embarrassed, however, I jumped right up and announced I was fine. The bus drove away, and I wasn't fine at all. Suddenly I felt sick to my stomach and dizzy. I started across the street but everything turned red and I heard that ringing in my ears you get right before you pass out. I had to sit down on the sidewalk and put my head between my legs to keep from passing out. I don't know why I suddenly got so dizzy! I didn't feel dizzy when I got off the bus, and I didn't hit my head when I fell. Instead, my

With everything going on last weekend, and this week, I didn’t get a chance to say kudos to the folks that were working on HPS fundraisers last weekend. Last weekend our supporters in Oyster Bay, New York were manning a food booth at the Oysterfest. It’s a fundraiser we’ve done for several years now. I was there (with the rest of the board) the first time we did this fundraiser, and I can assure you it’s two days of solid hard, hard work! A big thank you and kudos to the folks that helped out. Also, on the very same weekend, the DelVecchio family was having their annual garage sale to benefit HPS. Marie says they didn’t make quite as much money as last year, but they didn’t have as much help this year either. The DelVecchio’s have done this fundraiser for many years now. It’s become something of a neighborhood institution. All year long people drop things off at the DelVecchio house for the annual garage sale. That means that all year the DelVecchios have to store all this stuff! Their

You’d think by now I would have the expectation in life that things never go according to plan. This weekend I brought home a ton of work. I’m probably under the illusion that if I can just catch up, life will return to normal. If I finish even half of what I brought home today it will be nothing short of a minor miracle. Friday night I gave myself the night off. Not having a weekend last weekend took its toll, and I really needed some down time. My friend Tina came over and we went to dinner and to Homers. Homers had a guy playing classical Spanish guitar and it was beautiful. Dinner, however, didn’t agree with me. I was up most of the night. My symptoms have been so much better that I thought I could risk something spicy. Guess not. Saturday I slept almost all day. I didn’t want to. I kept trying to get up to get some work done, but my head was splitting. My sinuses seem to be acting up. My head hurts, my throat hurts and my teeth hurt. My body has a way of making me rest when I rea

This past weekend was exhausting, but I think it was very productive for HPS outreach. I attended the meeting of the National Society of Genetics Counselors. To be honest, I had a very limited understanding of what genetics counselors did going into the meeting. My own contact with a genetics counselor was limited to a single encounter at the NIH when I was first “officially” diagnosed with HPS. It was a positive experience, but I had the general idea that the role of a genetics counselor was pretty much limited to explaining the genetics of a particular disorder, and how it could be passed on through a family tree. I’m sure that somewhere there’s a very well thought out definition of what genetics counselors do, but anecdotally I can tell you that the people I met this weekend do much more than draw those little four-square charts on a piece of scrap paper like the ones you might remember from your ninth grade biology class. The people I met this weekend were extremely well informed a

Here's another picture from the Puerto Rico Conference trip. Pictured here are Donna and Alissara. Alissara is an HPS'er that could use everyone's prayers right now. She's in her late 20s, has two small children, and needs a lung transplant. Her family are incredible. They've had numerous fundraisers trying to raise the money for the expenses that can't be covered by insurance. Like many people that seek a transplant, Alissara will likely have to move away from the friends and places she knows to be near a transplant center willing to work with her. She's one of the brave people paving the way for the rest of us who may one day also need a lung transplant. (Thanks to Dr. Markello who took the picture!)

I haven’t blogged much this weekend, and might be a little slow to blog this week, because I’m attending a conference of genetics counselors. I’ve got lots to share on that front, but I’d like to be more awake and feeling a bit better when I blog about that. Right now I’m feeling sort of yucky and very tired. So, we’ll catch up. Friday was my KUMed day. Whenever possible, I try to schedule all my appointments with different specialists on the same day so I don’t have to miss multiple days of work or pay multiple cab fares etc. I saw my GI doctor early in the morning. To be honest, I’d almost cancelled the appointment because I felt like I was doing better. But, since I had other appointments and things to accomplish at KU, I decided it couldn’t hurt to touch base with the GI doctor. I’m so glad I didn’t cancel the appointment. I really like my GI doctor. I mentioned that since I started taking the reflux medication, I haven’t had as much “second sampling” of my food, but I’m still burp

Here's another pic thanks to Dr. Markello. During the trip Donna and crew visited the School for the Blind in Puerto Rico to talk about HPS. Pictured here are the film crew from Stanford, Hilda our favorite retired nurse from NIH, and Donna.

The following action request came in today from the American Thoracic Society. As you all know, NIH funding is pretty vital to HPS research. Not only does it affect the clinical trials underway at the NIH, but many of our mouse researchers that don't actually work at the NIH rely on funding grants from the NIH to continue their work. We'd appreciate everyone's support on this. Action Requested Please contact your Senators by October 17 to request their support for increased NIH funding The Senate is expected to vote on the Fiscal Year 2008 Labor-Health and Human Services and Education (L-HHS-ED) Appropriations bill, which funds all federal health research and services programs, the week of October 15th. The bill includes a 3.6% funding increase for the National Institutes of Health (NIH) and a 4.0% increase for the Centers for Disease Control and Prevention (CDC). President Bush has threatened to veto the bill because it exceeds his proposed 2008 budget for L-HHS-ED funding

Since posting the news item about the Target lawsuit, this blog has been popping up in places on the Internet I never knew existed, and I've been getting e-mails from people I've never met suggesting other news items that may be of interest. I'll pass along some of those as time permits. This one is actually sort of old news - but I somehow missed it when it actually happened. As this is a problem I know I've discussed with some of you, I thought you too might find it interesting. Generally, I can read the screens on ATMs - but I have occassionally had trouble when there's glare on the screen etc. It would be nice to have the option of listening. And just out of curiousity, is anyone aware of anything being done to make other types of kiosks more accessible? I'm really hating, for example, the kiosks at airline check-in. A local store now has do-it-yourself checkout on a lovely light purple vs. dark purple screen. It's hard to read. And, although there's

I'm a sucker for baby pictures. Here's Dr. Markello with the littlest conference attendee. When we do all the things we do towards finding better treatments, and someday hopefully a cure, just remember we're not just doing it for us. These little kids will have very different lives because of the work of great doctors like Dr. Markello, and all of our other researchers. Their work is possible because of great patients like all of you. It's a cooperative effort. We're all in this together.

Many of you have been asking to see some pictures from the conference in Puerto Rico. I've put out a call for photos, but so far the one person to respond was Dr. Markello. He said he didn't get to take many pics, but he sent a few shots. My computer, as usual, is acting up - so I may post these in stages. If anyone else has Puerto Rico conference pics, please send them on! Pictured here is Dr. Markello (who calls himself "the big kid") with several kids that have the Hermansky-Pudlak Syndrome type of albinism.

After all the whining I’ve done lately about not feeling completely like myself, I’ve got to share that today I felt GREAT! I think it’s been about a month since I felt this great. I felt pretty great yesterday too. Today at work my concentration was BACK! That probably doesn’t mean I won’t be behind. Until science perfects human cloning and I can create three of myself, I don’t think that will happen. But at least I wasn’t falling asleep. My mind wasn’t constantly wandering off. My blood pressure wasn’t surging. My joints don’t even hurt! When I got home I walked a mile to the pharmacy, picked up a script and walked back, all within about 45 minutes (including the wait time.) When I got home I didn’t feel exhausted. I’ve been working this evening and feeling actually pretty good. I even just went for a second walk as the weather here is just perfect. I love the fall! I love to watch the leaves change color. I might be all grown up, but I still love to stomp through the leaves and hear

There have been a few news items lately that I thought the HPS community might find of interest. I think the press release, and the links to some of the coverage, will explain the issue well enough. What amazes me is that a big retailer like Target doesn't see the potential of blind/visually-impaired customers online. HELLO! Wake up - we blind/visually impaired (what ever term floats your boat) people often don't drive. I buy a lot of things online to save the time and expense of taking a taxi. I'm a great online customer. Target should be jumping up and down for a customer like me. The other thing that boggles my mind is the notion that in this day and age, a Web site is any less of a public presence than a brick and mortar store. This is the information age, last I checked. Court Ruling Says California Disabled Rights Law Applies to the Web 10/3/2007 FOR IMMEDIATE RELEASE CONTACT:John G. Paré Jr.Executive Director for Strategic InitiativesNational Federation of the Blind(

Just a quick update, mostly for my personal record keeping to be honest. I’m still really battling this fatigue. It is better, but it’s still a problem. Friday I had a really great morning at work, and a pretty good afternoon, but I did put my head on my desk and fell asleep for about 45 minutes. Friday evening I went out to dinner with a bunch of friends. My social life has been so limited lately because I haven’t felt up to being social that it was really great to get out for a while. We went to a Thai place. I ordinarily love Thai food, but I’m just not having much of an appetite. This is, in some ways, a good thing. Grin! I ate a veggie egg roll, a bowl of coconut-type soup, and about five bites of phad-thai (sp?). I had the noodles again for dinner this evening, and there’s still enough left for another meal. About the only thing that tastes good to me right now is ice cream. Go figure? What is my body trying to tell me with that one? Ben and Jerry’s ice cream with cherries in it

Carmen Camacho serves on the HPS Network Board of Directors. She was able to attend the conference in Puerto Rico and helped with translation. Below are her impressions from her trip to Puerto Rico to attend the HPS Puerto Rico Conference. Thanks Carmen for sharing your impressions with us! It has been a crazy week. I got back from Puerto Rico on Sunday night and I haven't had time to post yet. I was dying to tell you about my trip. For those who don't know, last weekend we celebrated the second annual HPS conference in Puerto Rico. Liz Diaz, Donna and Ashley also participated in the conference. It was amazing to see the Network grow to the point that we have a Puerto Rico Branch. Ivette Vazquez and Richi Rangel are the board directors and they mobilized the island for this conference. We were in the newspapers, on the morning news and on the radio. There was no one that didn't know we were having a conference. Dr Markello, Dr Meredith Dr Guchicco and of course, Dr Gahl an

Today was a bit better than the past two days. Honestly, I don’t know what I was doing at work the past two days. When we stopped the birth control pills, I’d left a message for my doc that I was going to stop them, but that when my cycle returned I’d need her to be the big bad doctor in a white coat and tell me to stay home. Right now I can’t miss work without a doctor’s permission. One of the reasons I started down this path was that I was tired of having these excessive bleeding days that were usually accompanied with all sorts of other health issues. I’m almost always at work, but I feel miserable and I don’t get anything done because I spend the entire day in the bathroom. If I’m going to be dealing with that stuff, I’d just assume be in my own bathroom close to my own bed where I can sleep, and moan, and whine to my heart’s content in privacy. But after so much missed work, when the time came and I was in that spot, I didn’t have the heart to ask for the note. I just suffered thr

Concentration has been so hard today. I’m so tired. I keep having to go to the bathroom. I feel drained and weak. Every so often I keep breaking out in a sweat, even though I don’t have a temperature. But, my blood pressure has been good. I should be working on a story, but I’ve got a bad case of writer’s block. The subject matter is technical, and I can’t focus enough right now to do technical. In the meantime, I thought I might try to overcome my writer’s block by blogging about some of the things on my mind. Perhaps they’re more distracting than I realize. When I was at NIH with the film crew, they, of course, asked a lot of questions. I was so tired that week (starting to see a theme?) that I don’t remember most of what they asked me. The questions I do remember are the ones I felt I didn’t answer well, or was worried my answers would be misunderstood. Nicole, the producer, asked me about the HPS sense of community. I can’t quite remember how she put it...it was something to the ef

I don’t have the “official” post conference report in yet, but I’m excited about what I’ve heard so far about the event in Puerto Rico. Official registration numbers aren’t in yet, but they’re estimating we had between 450 and 500 HPS’ers and their families at the family conference. We had only planned for 350. I heard the venue ran out of chairs and we ran out of food at lunch. Ahhh….the problems of success. We also had 48 doctors at the doctor event but had only expected 35. The restaurant had to hussle to get meals for everyone. I’d really love to have some guest bloggers that were at the event share their experiences and impressions. After everyone gets settled, we’ll see if anyone volunteers. Grin!

Well, the one thing I can say for today. High blood pressure was not a problem. I felt so tired today that I almost felt as though I’d been at an all night kegger at some college party (not that I’d have any personal experience with that mind you – grin.) Last night I couldn’t sleep. I felt incredibly tired - so tired that when I got up in the night to go to the bathroom my legs felt like jello – and yet I couldn’t sleep. Since we stopped the birth control pills, you can guess what’s back. And with it, of course, lots of cramps, an upset tummy, and joint and lower back pain that was a bit beyond its normal mildly annoying level. Mind you it wasn’t at a severe level (like at NIH in April), but it was bad enough I couldn’t sleep, even though I was so tired. I got up in the night and soaked in a hot bath, which felt great while I was in the bath, but as soon as I was back in bed the joint pain was back. I was afraid to take anything for it since I’ve started these other two new meds, and