Living on the frontlines

One of the events going on this week that I can blog about (because I know neither of them will mind) are two of my friends that have landed in the hospital this week. I’ve dubbed them “the hospital twins” because they went in on the same day and called me within minutes of one another to give me the news and ask me to pass along the info to the other one. He he he he….. It was a bit jarring when they first went in because there are a few other very sick HPS’ers right now. How many people can we have in the hospital at one time? How many people can get bad news from their doctors all in the same week? When Sheena called to tell me she was MIA because she was in “the joint” (the hospital) I thought to myself, oh man, not another one. And when Karen called 10 minutes later I said out loud, you’ve got to be kidding me! The great news is the hospital twins are doing just fine. Neither of them turned out to have too much ultra serious going on – not that they didn’t need to be hospitalized

If I started to explain the events of the last seven days to anyone outside of the HPS inner circle world, no one would believe me. They would think me some sort of physiological mess on the prowl for attention because the story would be so over the top, it wouldn’t seem really possible. I can’t blog about all of it just now. Too many things remain unresolved and privacy must be respected. But, lets just say this has been one of those weeks when balancing my work life and my personal life has been quite the chore. I can’t help but be somewhat proud of myself for pulling it off – although no one from either camp could possibly fully appreciate the task, except maybe Donna. Grin! It was a very tough week and it’s not over. My joints have really been bothering me and so last night, at the point where I was so tired that I honestly felt drunk and yet couldn’t get comfortable, I gave in and took a pain pill. Wow! I feel so much better today. My joints still hurt, but it’s amazing how much a

As I use this blog partly to keep up with my own symptoms, I should probably post I’ve had a few this week. I’m still horribly tired. I wake up tired. I fall asleep on the bus on the way to work. I feel like I need toothpicks to hold my eyes open all day, and then lately have come home to take a two to three-hour nap every evening. I’m so behind on so many things because I’m losing my evening time. I’ve also had more joint pain than usual this week. It’s not horrible and so I’m not taking anything for it. If I did, I certainly wouldn’t be able to stay awake through the day! I’m afraid to take something at night because it’s just that much harder to get up in the morning. My joint pain is in all the usual places – my ankles, wrists and fingers – but this week also in my knees. That’s a new one! I feel stiff when I walk around as if I’m much older than my age. I’ve also got several sores in my mouth right now. They just appeared yesterday and they hurt, but not horribly – just annoyingly

As I know so many of us are very concerned about the National Institutes of Health budget, I thought you all might like to read the following article that appeared on GenomeWeb Daily News. I think we've got our work cut out for us this year. President's Proposed NIH Budget Draws Fire from Scientists, Politicians [February 15, 2008] By Matt Jones a GenomeWeb staff reporter NEW YORK (GenomeWeb News) - The spending cuts for biomedical research proposed by US President George W. Bush in his budget request for 2009 have stirred up worries and sparked anger in the scientific community, causing researchers and interest groups to start speaking out, with some calling it an outrage and saying the future of US medical research is being sold short. The chatter coming out of America’s labs is that NIH grants are increasingly harder to get, funding is falling for grants already awarded, and teaching hospitals where research is conducted are feeling the pinch. Established leading researcher

Don’t worry folks – I’m okay. I’m not sick as in sick, sick – just the usual stuff. I haven’t blogged much this week, but it’s been quite a week. I just haven’t had much of a chance. There are a lot of things going on in HPSland (more on that later) and I’ve had sort of a rough week personally (more on that later too.)

This is my brother, Ryan, who I never thought I'd ever see on a dance floor, cutting a rug at last year's conference. He he he he....and his sister with the camera caught it!

It’s getting close to conference time! So, I’ll be posting a few things about what you might expect at this year’s HPS Family Conference. This year (we have done this in the past too) we will have a separate session for adult HPS’ers, for parents of HPS’ers and then if there is a large enough group, one for spouses, partners, friends, cousins or anyone else who serves in the role of supporting someone with HPS. I mention this so you’ve got a chance to think about any issues you’d like to bring up during this unique opportunity to talk face-to-face with others walking in your shoes. This session will be after the big circle on Saturday, before lunch. We all have our “issues” surrounding HPS and they are different depending on what role we play in the HPS community and where our HPS loved one is at with the disorder. For parents of younger children, issues might surround first aid, IEPs and building independence among little ones with low vision. For adults with HPS, there are sometimes

I’ve been so busy that I haven’t had a chance to blog about much personal lately. To be honest, anything personal is sort of boring. If sleeping were an Olympic sport, I’d be a gold medalist. This is weeks now that I’ve been so amazingly tired. It isn’t tired as if I didn’t get enough sleep the night before. It’s the sort of tired where I get home from work, fall asleep watching the news, and wake up the next morning. I’ve started setting my alarm for the next day when I walk in the door from work, just in case. I’ve been to the doctor and besides coming off of “that time of the month” and having a slightly low thyroid, nothing much is wrong. Something doesn’t add up, and no one seems as concerned about it as I do. Is it physical or emotional – I suspect it’s both. The only other thing is my joints are acting up and are constantly sore. Usually they only get sore when I’m having, or about to have, GI troubles. But my GI is pretty good, overall. And the joint pain isn’t horrible – just

Donna passed along the following message for anyone in the area that might want to participate. I can't attach the flyer here, but the tickets to the hockey game are $10 each - if you want some I'll put you in touch with the family organizing this event. From Donna: Dear HPSers and Family and Friends, A wonderful family in Mass. has arranged for an exciting night for HPS. The Falcons Hockey Team will be playing two games and hosting an HPS Awareness Night. An local team (the dad of our little HPSer!!) will be playing a game before the Falcon's game. They will be wearing Jersey's that have our Logo on them!!!!! Pl ease consider coming out and cheering them on. Bring friends and family and lets make a night of it!! The local hotel, Sheraton Springfield, has put aside rooms for the HPS Network for $95.00/night. The number is 413.781.1010 or 800.426.9004. For tickets for the game please see the attached flyer. Lets support this family and their efforts on ourbehalf. Any que

My little “oh no” antenna has been activated. First, let me say to be completely fair, I don’t know anything about this movie. But, when I read this article about it my conditioned “gee Hollywood is at it again” radar just went off – fair or not. Let’s face it. Hollywood has just about as lousy a track record depicting visual impairments as they do depicting albinism. Just as people with albinism are so regularly portrayed as evil, people who are blind are most often portrayed as objects of pity, incapable, bumbling, lost, unable to be independent or find their way, miserable, depressed or just plain stupid. So, when I read these paragraphs from the story about this movie, I was a little worried. For the crew and cast, which includes roughly 700 extras, making "Blindness" was alternately frightening, draining, and exhilarating. That was especially true of training to act "blind," says Christian Duurvoort, an actor who coached his colleagues in a series of workshops.

The following story ran in The Braille Monitor in January. The Braille Monitor is a publication of the National Federation of the Blind ( www.nfb.org ) if you want to check it out. I've wanted to post it here for a few reasons. First, I'd love to someday ask Dr. Stracks about his experiences in medical school, in lab classes etc. Second, in the world of albinism new parents (understandably so) often get rather pre-occupied with how much, or how little, their children see partly because they so often see a relationship between this and what their child will be able to accomplish in life. There is no such relationship. Totally blind people can be lawyers and yes, guess what, evidently even doctors. There's nothing wrong with trying to see your best. But having a fruitful life is more about attitude than vision. Third, I just liked some of the points he made about decsion making. Enjoy! A Blind Doctor Practicing Today by Mark Stracks From the Editor: On Thursday afternoon, Jul

Saturday was our local bowl-a-thon for NOAH, the National Organization for Albinism and Hypopigmentation. I met up with Lyra’s family – her mom, brother and dad – for a little bowling, although frankly I could have cared less about the bowling. I had a ball watching the kids. Mashawna, Lyra’s mom, is the one who made the albinism cuties video you all saw here a few weeks ago. You can find her blog, Parent of a Child with Albinism, on the blogroll. And Lyra’s brother Dominique has quite the arm for a six-year-old. That kid got several strikes! Way to go Dominique. Above are some pictures Mashawna sent me last night of Lyra and me.

John McCutcheon is one of my favorite singers of all time. Not only is he a tremendous musician, swapping musical instruments throughout his performances without losing a beat and proving his accomplishment on all of them, but I happen to love his political commentaries. I’ll warn some of my more conservative friends, you might not find them as funny as I do – but I think they’re hilarious. Friday night John McCutcheon was in Kansas City for the first time since 2004. He plays the Walnut Valley Bluegrass Festival every year in Winfield, Kansas – but recent CPAP, ostomy, bleeding, allergy etc. drama has made camping out at the festival a bit tough for me. Needless to say, doctor’s appointment and dizziness aside, I had to be there Friday night. I went straight from the doctor’s appointment, splurged on a long cab ride, and met a whole contingent of friends and fellow John McCutcheon fans for the concert. When I started having those dizzy spells again Thursday, my first thought was that

Before Christmas I started talking on the phone with a new HPS friend named Janet. Janet lives in the Chicago area and didn’t realize that she had the HPS type of albinism until her lungs were already quite sick. Her lungs were too sick for her to participate in any of the trials at NIH, and thus a lung transplant was her best option. Getting on a transplant list is no easy task. Janet has patiently undergone every test asked of her and weeks and weeks of medical scrutiny. This last week she got the call she’s been waiting for – she’s on the list. It’s a victory for Janet, but it’s also a victory for the HPS community. Thanks to people like Janet who have the tenacity to hang in there, even when things are very tough, future HPS’ers in need of a lung transplant will have it just a tad easier. It wasn’t so long ago HPS’ers had a very difficult time finding a transplant team that would even talk to them, let alone do a complete work up to evaluate them for being listed for transplant. Th

Okay, this fatigue thing is getting out of control. It’s been, shall we say, an HPSish female time lately, so I guess it’s no wonder I’m so tired. But, it seems like I’m always tired, no matter what the time of the month or the state of my health. I could just quite happily spend half my day in bed. I start to wonder how much of that is physical and how much is psychological. To say I’ve been under a lot of stress lately would be the understatement of the century. Yesterday I stayed home from work. I had acid reflux to beat the band all night and got pretty much no sleep. My gut just felt acidy and every time I’d lay down, here the stuff would come – yuck. I didn’t intend to miss a day of work. I got up and started to get ready for work, but felt like my body parts had cement in them. I decided to stay home and try to work. But, when I got up, fired up the computer and started trying to work, I kept getting dizzy spells. It’s a bit hard to interview people and stare at the computer scr

One of my favorite movies of all time is Office Space. It's sort of like vocational therapy when you've just had enough! This has one of my favorite scenes, when Peter meets with "the Bobs" - the consultants.

This was the CareerBuilder Super Bowl commercial. I didn't watch the game and just saw it tonight. I laughed until my gut hurt. Somehow I think I can relate. It's just too funny!

I've been meaning to post this story for a while, but it's been a very busy week. I don't know anything about this lawsuit other than what appears in the following Associated Press story. But, I can certianly relate to this woman's experience. How many times have I been in a restaurant and ordered what I knew was on the menu to avoid the eye roll of the server when I ask for the menu to be read to me? I'm sorry to admit, I've done that a lot. Is it good enough to be allowed to simply eat, or do we have the same expectation of being treated with respect where we dine? If the comments had been of a racial nature, I suspect a civil rights suit would have been a no brainer. In Kansas City blind and visually impaired people have long had an ongoing similar battle with some of the cab companies. These days I use Advanced Suburban Taxi all the time because they tend to be respectful and I've never had this happen. However, numerous times in the past I've been w

Here's another opportunity that has come to my attention. The application process is competitive and academic, however, if your child is chosen the camp is free and the NFB pays transportation for your child and one parent to attend. National Federation of the BlindJunior Science Academy July 23-27, 2008Baltimore, MD For the first time, the National Center for Blind Youth in Science (NCBYS) will be offering a Junior Science Academy (JSA) targeting children in grades three through six. This year, with hands-on experiences, tactile materials, and innovative nonvisual teaching methods, the Academy will open its doors to the youngest group of scientific explorers in NCBYS history. Students: The four-day session will expose blind children to the excitement of science in real-life applications. Students will discover that science can be fun through hands-on instruction, field trips, and interactive activities as they learn about how different aspects of the environment work together to c

The announcement for this contest was in my e-mail box this morning. I'd encourage any kids with HPS or albinism (or siblings) to try for it. I bet your personal experience would make for a great essay. Pass this along to any middle or high school kids you know. DNA Day Essay Contest Third Annual National DNA Day Essay Contestfor Middle and High School Students Sponsored by: Amercian Society of Human Genetics Deadline is March 17, 2008 The contest aims to challenge students to examine, question and reflect on the importance and social implications of genetic research. Essays are expected to contain substantive, well-reasoned arguments indicative of a depth of understanding of the issues addressed by the selected essay question. All students, grades 7-12, are eligible. We appreciate and carefully review each entry. All essays must be received no later than 5PM EST on March 17, 2008. ALL SUBMISSIONS ARE ELECTRONIC ( Submission Form for Middle School Question #1 ; Submission Form for

This clip is in Spanish. It ran on Telemundo a bit ago. I've just been so busy that I forgot to post it! Shame on Heather!

This has been a very long week for me. When I was first diagnosed with Hermansky-Pudlak Syndrome back in 2002 (the official diagnosis as opposed to the very good guess diagnosis back in 1993) one of my concerns about my potential shortened lifespan was my mother. My mom was a single parent. I’d always assumed that someday, as the eldest daughter etc., it would fall to me to take care of her in her old age. The thing is I’ve never thought of my mom as “getting older.” My mom has always been healthy. I’ve always been the sick one. It seemed like an issue that was a “someday” sort of thing. As I settled into my HPS diagnosis my view of things sort of shifted. I’ve had a lot of concerns about who would care for me one day, heaven forbid, if my lungs get worse. Mom seemed like a likely candidate. Now, five years into this (almost six) I’m in the clinical trial and my lungs are excellent. This week was a bit of a wake up call. What if something did happen to my mom? How will I care for her?

I did find mom last night about 2:00 am. My very rusty, never-all-that-great German got quite the workout. It seems mom has "kinks" in the "hoses" going in and out of her heart. We're not sure what the next step is or when she's getting out of the hospital. She thought maybe today, but I don't know. My bet is that they keep her.

I have to say we've had better weeks. Yesterday about 3:30 am I got a call from my mother. She's in the hospital in Germany with some apparent heart troubles. She's been having trouble with high blood pressure for a while now, but it seems that now her EKG has become "erradic" and so this morning they were going to do a heart catherization with dye to try to find the problem. She gave me the number to her room, but I've called and called and it doesn't work. Her cell phone seems to be out of juice. Someone was supposed to call after the procedure, but so far we haven't heard anything. We should have heard something hours ago. Meanwhile, I had called my aunt in Dallas to tell her the news. I thought she could help tell the rest of the family etc. When she called to tell my aunt Ched (my great aunt, but she's the same age as my other aunts) she discovered that Ched was on the way to the hospital. She'd had a stroke and the doctors think there may

For t hose of you that have been following the long history of the GINA bill, here's the next step should you care to help out. We came so close this summer, and yet Senator Coburn was able to put the kobash on this. Encourage your senators to step up and protect us all from genetic discrimination. From the Coalition for Genetic Fairness: Help GINA progress through the Senate Tell the Senate to take action on GINA! We must push GINA to success in the Senate for it to become law. With Senator Coburn's hold on the bill, our best alternative is to get GINA on the Senate floor for a vote. Senator Reid, the Senate Majority Leader can make this happen, but only if he hears about how important GINA is to all Americans. Help to make GINA one of Senator Reid's priorities. Call his office in Washington, DC at 202-224-3542 and tell his staff that you want GINA (S.358) to come to the floor for a vote. My name is _____. I am calling to ask Senator Reid to bring the Genetic Information N

With everything going on, I haven’t posted a health update lately. I’ve been doing well, on the whole, with the exception of ongoing fatigue. That gets really frustrating. Everyone keeps telling me it’s because I’m doing so much, but what they don’t understand is all that I’m not doing. I’m not cleaning my house. I’m not running errands that need to be run. And I am taking little cat naps at my desk. Today I stayed home from work. For the past two nights I’ve had really bad acid reflux. It’s kept me up all night, which doesn’t help the fatigue. At a certain point, there’s no point in trying to fake it. I need rest. My joints have also been acting up and they haven’t really bothered me much lately.

Well, it's time for the legislative agenda to get off and running again. I have an update on GINA I'll post later. This was a very nice summary of the Bush budget and the impact it would have on health programs. I will blog later about how I believe some of this might impact HPS'ers - but right now I'm trying to get a story done for work and keep up the momentum from the AP news story. Stay tuned! Kaiser Daily Health Policy Report Friday, February 01, 2008 Administration News President Bush's $3T FY 2009 Budget Would Freeze Domestic Spending, Seek Nearly $200B in Savings From Federal Health Programs President Bush on Monday will release a fiscal year 2009 budget request that will total more than $3 trillion and include a large reduction in Medicare spending, the Wall Street Journal reports (McKinnon, Wall Street Journal, 2/1). The budget request would decrease Medicare spending by $178 billion over five years as part of a $200 billion reduction in entitlement progr

Since I first noticed the Associated Press story about Hermansky-Pudlak Syndrome on the wire Friday, I’ve been on pins and needles. My latest count shows the story was picked up by a total of 84 news outlets. What will happen next? The article didn’t contain any way to contact the Network or obtain testing for HPS. Will anyone read it – a doctor, mother, father or friend – and see someone they know in the description? Will they be brave enough to pass it along? Will they go to the effort to google HPS? Will they be too frightened by what they read to follow it further? Will they understand that early diagnosis gives you such advantage in fighting the disorder? All weekend long I’ve had calls from HPS’ers wanting to know if anyone new has materialized. Did the coverage uncover any new families? It isn’t that we’ve got some sort of morbid wish that some new sick person will appear. It’s that we know how important this diagnosis can be, and we all know there are literally hundreds, probab

I have to post this quick because I have to do an interview for my own job in 15 minutes. But, my co-workers think I've lost it because I'm jumping up and down!!! The Associated Press has done a story on HPS! This is a big deal because that gets us exposure in every news room that uses the AP (which is pretty much everyone). I'll also be sending a copy of the story to all the health reporters I've been trying to get to cover us for years. Hopefully the AP story will get picked up in more places! I'm so excited! I hope the AP will forgive me for lifting the story - but I know all the HPS'ers will want to see it. (It is a bit frank about the lung disease, so if you're having a bad day, this might not be the day to read it.) Puerto Rico Home of Deadly Syndrome By DANICA COTO – 6 hours ago AGUADILLA, Puerto Rico (AP) — Mayra Nieve is used to being ostracized and called names as an albino in this Caribbean community. What she fears is not being able to breathe. N