Living on the frontlines

This week we added one new person to the database of people with Hermansky-Pudlak Syndrome - so that leaves us 39 left to find on the 100 People Search! We need to pick up the pace if we're going to find them by conference. But, consider this - we have 60 newly diagnosed HPS'ers in about a 10-month period - that's 60 people who now at least know their bleeding risks and have a shot at preventative care as well as new therapies.

Carmen was able to talk to Janet today. She continues to improve and will hopefully be out of the hospital by Saturday. It seems she picked up a virus from the kids she works around. Continue to keep her in your prayers!

The following story appeared in the Washington Post. As lung transplants are a topic of interest to many in the Hermansky-Pudlak Syndrome community, I thought some of you might be interested in this information. Donna pointed the study out to me. Happy reading: Lung Transplant Outcomes Better at High-Volume Hospitals » Links to this article Wednesday, January 28, 2009; 12:00 AM WEDNESDAY, Jan. 28 (HealthDay News) -- Hospitals that perform at least 20 lung transplants a year have the lowest death rates for this complex procedure, according to Johns Hopkins researchers. They said their findings could serve as a patient safety benchmark or standard for hospitals nationwide. The researchers analyzed data from the 79 American and Canadian medical centers that perform lung transplants. At the roughly 20 institutions that perform, on average, 20 or more lung transplants a year, the chances of an organ recipient surviving the critical first month after transplant are more than 95 percent, and

While scholarships were on my mind, I remembered that it seems like it was this time of year when I saw a press release about a scholarship program through the Crohn's and Colitis Foundation. I did a quick search on their site and didn't find anything about it this year (might be there but I have a lot to do so check it out on your own). But, they did have an excellent page on finding scholarships with lots of leads. It would be useful to anyone seeking funding for college - not just those with Hermansky-Pudlak Syndrome or Crohn's or legal blindness. Check it out: http://www.ccfa.org/about/news/scholarships

Warning - to the non-HPS'er, this might fall under the heading of too much personal information. Read at your own risk. I need to post a health update. Honestly, I sort of hate doing it. But, the point of this blog is to help document day-to-day life (in my life anyway) with HPS as well as to help document things for my own care. I’m getting sort of sloppy about this lately. I think it’s because I’m spending so much time filing out depressing disability paperwork that by the time I deal with that, the last thing I want to do is whine some more about my issues. But, I do need to sort of keep track of this stuff. It’s sometimes amazing to me (and I remember this from my super sick days in college too) how you can feel so amazingly crappy at one point, and a few hours later, so much better. But those crappy times can really interfere with day-to-day life. My bowels are acting weird and I need to start documenting it to figure out if it’s medication related or something else maybe I n

This information came across my desk yesterday as well. I know I've mentioned this scholarship here before, but here's a reminder as the deadline is coming up. National Federation of the Blind2009 Scholarship Program Each year at its national convention in July, the NFB gives a broad array of thirty scholarships to recognize achievement by blind scholars. All applicants for these scholarships: must be legally blind (PDF document) in both eyes, and must be residing in the United States, the District of Columbia, or Puerto Rico, and must be pursuing or planning to pursue a full-time, postsecondary course of study in a degree program at a United States' institution in the 2009 scholastic year, except that one scholarship may be given to a person employed full-time while attending school part-time, and must participate in the entire NFB national convention and in all scheduled scholarship program activities. (Read "More Than Just Money for School" by Anil Lewis [ava

Letty sent this along to me today. I'm just posting it here to share with anyone interested. We are receiving applications for our 2009 Scholarship and Career Awards. Please share the following information with anyone you know who may be eligible. Five scholarships are awarded across three categories: College-Bound, Undergraduate and Graduate. The criteria for eligibility are that applicants: - Must be legally blind (i.e., have a best corrected visual acuity of 20/200 or less in the better eye, and/or a visual field of less than 20 degrees in the better eye). - Must be US citizens, and reside and attend an accredited school in any of the following states: CT, DE, FL, GA, MA, MD, ME, NC, NH, NJ NY, PA, RI, SC, VA, WV and VT, or Washington, DC. Proof of citizenship will be required of all winners. Scholarships are based on academic and personal achievements, and candidates are not required to demonstrate financial need. Previous winners (in any category) of Lighthous

Below is a message I got from Sharon Terry, President of the Genetic Alliance. The Genetic Alliance, in cooperation with some other groups, has a family history project underway. The idea is that you and your doctor can much better target preventative care and identify other problems sooner by knowing your family history. If you've ever had any interest in documenting your family's medical history etc. here is a call-in number Thursday night to help you get started. Although the PSA and the phone bank is local to the Washington DC area, anyone can call the number. Here's the info if you're interested: Hello everyone, Did you know that there are steps you can take to prevent health conditions, simply by knowing your family’s health history? Most Americans don’t! That’s why Genetic Alliance and The American Society of Human Genetics, in partnership with WJLA-TV ABC 7 (the local ABC affiliate in Washington, D.C.), launched a Family Health History Public Service Announcemen

I got an answer from Yahoo about the spam filter issue. It was polite, but didn't correct my problem or anyone else's problem. It did suggest, however, that those having this problem write to Yahoo! It would be helpful if anyone else is having the same issue to write to them so that they are increasingly aware. I'm copying the answer below - and I did e-mail Eric back and asked him how to follow this further. If I can't do it on behalf of my groups - which seems silly to me - then at least I can do it on behalf of myself. In the meantime, I'll start researching how to get to someone higher up at Yahoo! Here's the response below: Hello Heather,Thank you for writing to Yahoo! Groups.I understand that you are concerned with the blind members of your Groupconfronting the captcha box.Heather, thank you for contacting us on behalf of other Yahoo! users. We'd love to help resolve their issue; however due to privacy concerns, we will need to ask them to contact us

I know there are many of you out there that are techie gadget nuts. I know because so frequently we're trading advice on the listserv about the mobile phone that's the easiest to read, or the computer that has the best built-in adaptive technology. Well, I found a Webcast that just might interest the techie-gadget devoted. Apparently a partnership has been formed between the National Federation of the Blind and some other companies etc. to promote blind friendly consumer electronics at the Consumer Electronics Show. The Webcast essentially is a recording of an interview about the project in a hotel room. I was sort of hoping for some footage from the show floor and some examples demonstrated for the camera. I'm guessing it was difficult to get the necessary permission for that. But for those who are interested in things techie and blind friendly, you might enjoy hearing about the project. Go to www.nfb.org - It's the Straight Talk about Blindess Webcast episode 23. Rig

Recently I've been experiencing a problem with Yahoo! that seems to be increasing in frequency. I'm hoping to hear from any other blind/visually impaired people encountering the same thing. In a great and needed effort to thwart the spammers, occassionally when you hit send on a Yahoo! e-mail a screen comes up asking you to type in a set of letters and numbers that appears in a little box. The letters and numbers are made intentionally difficult to read so that automoatic spam programs can't get around them. The trouble is when you make something difficult for the general public to read, you can only imagine how hard it becomes for those of us who have low vison or are blind. Some Web sites that use similar spam thwarting efforts have an accessability link where there's an audio file to listen to the letters and numbers. It's annoying to have to do that, but at least you can. Yahoo!, as far as I can tell, offers no such alternative. I've e-mailed their tech supp

I like this pic of the memorial because I like the lighting.

This is another pic from the WWII memorial. Each pillar represents a state or territory of the United States.

Please say a prayer for our friend Janet. Janet was only the third HPSer to get a lung transplant. She's been doing great!!! Today we learned she's in the hospital, although already seemingly on the mend. Pray she continues to get better and gets out soon!

This is a story many of us have been following closely. Some of you have wanted updates. I don't have much information to update - however, here's a story being run by the BBC. It's the latest I've heard. Tanzania witchdoctors flout ban Tanzania's only albino MP has been trying to fight prejudice Witchdoctors in Tanzania are defying a government ban announced on Friday, intended to stop the killings of people with albinism for ritual medicine. A BBC correspondent has seen at least 10 witchdoctors are working openly. It comes days after the latest murder of an albino man in Tanzania brought the national death toll to at least 40 since mid-2007. The killers reportedly sell albino body parts - including limbs, hair, skin and genitals - to witchdoctors. To read the full story, go to: http://www.facebook.com/ext/share.php?sid=45877839132&h=R2XRo&u=FjoXh

I’ve been meaning to put this up and just haven’t gotten to it. January is almost over, but it was National Donate Blood Month. It’s never too late to celebrate if you’re in the mood. Every day is a good day to donate blood if you’re able. I would not be here today were it not for all the good people in the world who show up regularly to donate blood. When I had my bowel surgery in 1993 I required more units of blood than I can remember. I’ve also required platelet transfusions at least four times in my life so far – and it’s likely to happen again. At any time those of us with HPS could find ourselves in need of a surgery or in a trauma that, thanks to our likelihood to bleed, would require the use of blood products. Thus, I’d just like to put a face to the need. I’m one of the millions that is alive today thanks to blood donation. Every day in our country 39,000 units of blood, on average, are used to treat cancer patients, transplant recipients or trauma injured patients. During cer

As I wrote out and mailed my first COBRA payment – nearly the cost of my rent before I’ve made a single copay for a single doctor appointment or prescription – this was on the radio. I thought it was a great example of what state we’re in when it comes to health care. There were a number of good points made – among them, it isn’t just the uninsured that are suffering from the cost of health care. Listen to this, and then imagine the lives of many of the HPS’ers you know with extensive and chronic medical needs. Check this out on today’s Talk of the Nation: http://www.npr.org/templates/story/story.php?storyId=99878438

For all those getting sick of the pics - sorry - I just love them. This one was a great way to study angle and line - and hey, my buddy Tommers is in the corner.

Doing outreach for a rare disorder isn’t easy. First you have to overcome the lack of knowledge out there about HPS. Then you have to find creative ways to reach out to those who might be affected. And if you manage to do all of that, sometimes even then it seems impossible to get people tested – and it’s starting to make me angry. As I hope many of you know, the gold standard test for HPS is to view the blood platelets under an electron microscope. If they lack delta dense bodies, then the person has HPS. We’ve all heard the HPS Network explanation that “normal” platelets look like chocolate chip cookies, and HPS platelets look like butter cookies. Although you can’t get this test done at just any hospital, Dr. White at the University of Minnesota is the one who not only invented the test, but he does it for free. The only expense is getting blood drawn and shipped to him. It isn’t even as difficult as a genetic test – the results typically come back in a few days. Yet in the last fe

Sometimes I share stories from other HPS’ers here – but I never do it without permission. Often several of us are working with families going through difficult times and we can’t share their stories. We haven’t been given permission. Right now there’s an HPS’er out there very much in need of our prayers. The family is very much in need of our prayers. Medicine has done all it can do. Pray that this HPS’er is kept as comfortable as possible and pray for the family who is caring for them. This HPS’er didn’t get a chance to benefit from any of the research we are doing here, and that fact is very hard for the family to deal with. They would do anything for their relative. They love this HPS'er so much.

It doesn’t seem possible, but it seems I caught yet another cold. For the past three days I’ve been feeling like I was hit by a truck. I had a horrible sinus headache. Even my teeth and cheeks hurt from the sinus pressure. I had a runny nose and very, very sore throat. And, I had a fever. Last night the cough set in again. I was having a very hard time staying hydrated, which I’ve noticed, seems to make it even harder to regulate my blood pressure. Even though I was drinking lots of water, it’s as though the water just went right through me. This afternoon I feel as though I’m emerging from the fog again. I’m also feeling incredibly frustrated given the long list of things I have to do. Yes, I know, that’s the point of being on disability – to not have deadlines anymore. The trouble is I take my self-imposed deadlines just as seriously as I ever took magazine deadlines. When I get behind I feel frustrated. The funny thing about being under the weather is that it’s the one time I also f

This weekend Donna, and I think maybe Marie, are off to attend the New York chapter meeting of the American Thoracic Society. They'll man a table there to talk to this collection of lung doctors and researchers about Hermansky-Pudlak Syndrome and pulmonary fibrosis. So many people never think to make a link between albinism and pulmonary fibrosis. Because New York has such a large Puerto Rican population, this is an especially strategic group of doctors and researchers to reach out to. Everyone please say a few extra prayers for them this weekend.

It's been a few days since I've blogged. I've been feeling under the weather again with yet another cold. Groan. I need to do a health update, but maybe later. In the meantime, it's Friday so it's time for the 100 People Search update. We added one new HPS'er to the database this week so that means we're at 40 more HPS'ers to find to make our goal by conference. That's starting to be a tall order. Everyone needs to get out there and help us get the word out!

It's that time of year again. Every year the Tillman family leads a fundraising effort to benefit the HPS Network in cooperation with their local volunteer center. The volunteer center takes on the expense of organizing this rather large event, promoting it etc. Thus, they get 20 percent of the proceeds. The Tillmans reach out to their network of friends and family and ask for donations. The Network gets 80 percent of what they raise. Below is a letter from Karen's daughter Holly. She's asked us to post it to our blogs, so here it is. Dear Friends and Family, I am involved in a fundraising event to benefit the community of local nonprofit organizations by getting sponsors through a single donation. Just like last year 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

Today the HPS Network launched its new Web site at www.hpsnetwork.org . The site features updated medical information as well as the ability to host constantly updated news about the activities of the Network. We have launched what is essentially the shell of the new site. More features will be added and translations completed in the coming months. But, because the old site was becoming outdated, we felt the need to at least launch the most critical sections now. Come back often to see updates!

Another memorial we visited after Ryan and Sara's wedding was the national World War II memorial. Here Mom, Karen and Tommy are walking towards the entrance. Again, I got a little carried away taking photos. Once again, lots of great studies in line and perspective. Sorry in advance - grin!

I hope this doesn't sound too unfeeling, but these benches are a great way to study artistic composition in relationship to line and perspective.

The following article ran last week in Science. The link to the full article is below. NIH's Bounty Split Between Bricks and Basic Science Biomedical researchers will have the chance to apply for quick-hit, $1 million challenge grants as part of the funding that the National Institutes of Health is slated to receive under the proposed economic recovery package introduced yesterday by Democrats in the House of Representatives. Each institute and center at NIH would be asked to identify “real scientific challenges that they are facing,” according to Acting NIH Director Raynard Kington. “Scientists would apply through a relatively quick process, to receive $500,000 a year for 2 years, to make progress in designated areas.” The grants could be extended for a longer time, Kington says, “depending on funding." The challenge grants would be funded by a $1.5 billion pot for research created by the House bill. To avoid the boom-and-bust cycle that NIH has experienced in the past decade

I, along with much of the country, was glued to this morning’s festivities in Washington. It was a historic moment, one of those moments people will tell their grandchildren about. I voted for Obama, and I had very specific reasons for doing so. (Please remember, this is indeed my personal blog and thus these are my personal opinions.) One thing I appreciate about having been able to do so much traveling when I was young is that it’s exciting to see events on television taking place on the very ground you’ve actually walked on. This fall regular readers will remember that Ryan took Elsie and I on a tour of the Capitol, and so once again I got to look at the images and say, hey, I’ve been there! And then I thought about what it must be like to actually be there. Obama seemed to stumble a bit on the oath. Can you blame him? Anyone’s nerves would be a little on edge. I watched as the Obamas walked the Bush family to Marine One. They stood on the steps of the Capitol, and I wondered what t

Have you ever heard a news report or documentary that you find so interesting, yet so disturbing, that you can’t get it out of your mind? That happened to me last week. For many years I’ve loved the NPR radio show This American Life. Each week the show has a theme, and they invite their stable of writers to tackle the theme in their own creative ways. Sometimes they interview people with stories that match the theme as well. Last week I think the theme was matchmaking. I missed the first little bit, but that’s what all the stories had in common. All the stories happened to be really good last week. There was a story about aid workers in Afghanistan who got drawn into a forbidden love tale between two locals who dared to skirt tradition and fall in love with each other. Then there was the story about a woman who, after donating her own kidney, decided to play the role of matchmaker between those in need of kidney transplants, and those wanting to do the ultimate good deed, to donate a

It’s the middle of January and my Christmas tree is still up – well, partly. It took me two weeks to put up the tree because I was feeling so tired. Now, it’s taking weeks to take it down just because I hate the task so much. I love my Christmas tree. I love the twinkle of the lights. I love all the little ornaments, each one with a special memory or a special symbolism. I love the shiny balls and the beads I use. I love all the little red and gold colored bows I put all over the tree, and even the big red bow I put on the top – mostly because my angel has a tendency to flop over and take a death defying dive off the tree. The last time her wings were “clipped” sort of speak, and now she spends the holidays as a wingless centerpiece. I’ve known the tree needs to come down. The stockings need to be put away along with the little snowmen and Santas that live on shelves around my apartment. I have a small nativity scene and thus I leave it up all the time. But even though I’ve known these

Yes, I am still collecting potential recipes for a Hermansky-Pudlak Syndrome cookbook fundraiser - to be published most likely around next Christmas. Here's a recipe Karen T. sent me. I LOVE Cranberry so I can't wait to try it. Hot Cranberry Punch 1/2 gal. apple cider 1 1/2 qt Cranberry Juice Cocktail 1/4 cup packed brown sugar 4 - 3in cinnamon sticks 1 1/2 tsp. whole cloves 1 lemon thinly sliced Method: Heat to boiling. Simmer 15-20 mins.

Registration is now open for the Hermansky-Pudlak Syndrome family conference. Those that are registered with the HPS Network were mailed registration forms today. You should get them sometime this week. Please, please register in advance if you're planning to come. While we are always happy to welcome the last-minute crowd, our last-minute crowd is typically most of the attendees. This can make conference planning very difficult. It helps us to plan for catering and childcare and the room seating etc. if we know you're coming. Even if you're still saving your pennies for conference, if you plan to attend at least fill out the form so we have you in our head count. Also, if you're flying to New York and you need to be picked up at the airport, we need to know this in advance. We have transportation volunteers that take tine away from their jobs and lives to help us, so we want to be organized and now waste any of their time. We need to plan what size vehicles will be nee

A few days ago I reposted "The Spoon Theory." But, when I tried to link to the author's site, for some reason it wouldn't work. Well, Ana tried it and she resent me the link. I'm sure many of you would find this site interesting so here it is: http://www.butyoudontlooksick.com/ . Not always looking sick is a problem for many of us with Hermansky-Pudlak Syndrome. But, currently I'm tossing around what I see as another problem in my head. I'm not sure I'm ready to wax philosophical about it - just pondering. As people with albinism, we generally know we've got albinism long before we put together the fact that we've got HPS. That isn't always the case, but usually. That means that often we find ourselves in other spheres of influence as we develop our coping skills that are unique to us. Many of us find ourselves involved in the albinism community where the emphasis is typically of psycho/social aspects of albinism. To regard it as a disease

Here you can see the difference in the color of the brick between the undamaged part of the building, and the newly built part.

Here Elsie, Karen, my mom and I pose for a picture in front of the place where the plane hit the Pentagon.

I was struck by how much these remind me of waves.

Here my mom is taking in the vastness of all of these benches. She's looking towards the Pentagon building where the plane hit.

At the Pentagon Sept. 11th memorial there are hundreds of these benches. Each bench sort of looks like a wave and underneath of it is a pool of water. The water runs so you can hear the sounds of soft trickling water. I think that each bench represents up to three people. They are organized by age, thus when you first enter the vast space of the memorial you're greeted by a bench in honor of a baby. I took a lot of pics of the benches.

Words on the memorial.

The day after Ryan's wedding the Tillmans offered to give my mom a ride to the airport. Her flight didn't leave until later in the afternoon, so we wanted to make the most of the time in Washington by doing a little sight seeing. So, the Tilmmans, mom, Elsie and I went to see the Sept. 11th memorial at the Pentagon.

I know I usually post these on Fridays - but we have several people going through HPS testing right now and I needed to talk to Donna about where everyone was at and whether anyone had results back. So, while it's Wednesday, this is last Friday's report. Last week we added one new family to the HPS registry. I'm not sure how they found out about HPS etc. I do know it was a pediatric case. So, that leaves us 41 more HPS'ers to find on this year's 100 People Search. I suspect we'll have another one this week - but we're waiting on the test results. Keep searching everyone! Wouldn't be a shame to find effective treatments and then not be able to share them with the people that need them? We can't leave anyone undiagnosed. It's just too iimportant.

She's in the blue - grin!

After the wedding the HPS crowd worked really hard at finding a restaurant that could take on our crowd. Finally a Chinese restaurant agreed to take us. We went our separate ways for the afternoon. Mom (who is turning her head here - again - didn't get many pics of her because she kept turning away) - went to spend some time with friends of hers that had come to the wedding. Many of the HPS'ers went back to Julie's house and we napped, kicked back, talked etc. We were all so tired. Then we met up for dinner. Ryan and Sara's wedding for many of us was a three-day eat fest. Grin!

The following is something my friend Karen T. posted to her blog some time ago. She got it from someone on MySpace. I love it. I've posted it here before. But, Karen just posted it to the HPS adults listserv and especially these days, I can relate to it so well. It's the perfect way to explain what it is like to live with a chronic illness. The author gives a link, and I tried to go there and not copy the whole thing here since it is copyrited, however, the link is no longer good and I have no way of finding this person. Thus, I hope that giving her author's credit will be good enough. She's done all of us with chronic health issues a service by explaining this so well. Yesterday, for example, I had tons of spoons. I felt great and got tons done. Today has been a very HPSish day. It's nearly 4:00 pm and I'll I've accomplished today, besudes dealing with my problems, is checking e-mail and making a few phone calls. I didn't even get to the nasty forms yet

I’ve waited to post about the results of my NIH trip. Ryan and Sara have been on their honeymoon, and while I’m quite sure that couples on their honeymoons have much better things to do than check up on things at home online, just in case I didn’t want them to read about these results while they were away. I didn’t want to spoil the trip by having them worry. But, they should now be home and so many of you have e-mailed asking (which I appreciate very much.) My test results were sort of a mixed bag. The bad news is that pretty much all of my pulmonary function numbers fell, some by as much as 10 to 16 points. That’s a lot for a four-month period, especially since being in the trial my numbers have been heading upward – not downward. Thankfully, because they had improved so much they could also fall a lot and still not be that bad. The NIH folks say that they can’t tell if this is just a blip, or a progression of my pulmonary fibrosis, until they see more tests with similar numbers. It’