Living on the frontlines

Everyone give a shout out to Sandy who shared this information. I've been meaning to post it for some time. I know some of our HPS ladies would be great applicants for this scholarship. It will, however, require making some sort of contact with the local chapter of the National Hemophilia Foundation. You'll have to get a recommendation from them. I know that HPS is so rare, and so often misdiagnosed, that we don't even typically show up on the Foundation's radar. But hey, nothing ventured, nothing gained. And in the meantime, you might make some valuable contacts, both for yourself and the HPS Network. Go for it ladies! (Yes, I know some of the dates say 2006 - just check with the foundation if you need any help.) PROJECT RED FLAG Academic Scholarship for Women with Bleeding Disorders, 2008 The National Hemophilia Foundation is pleased to offer the Project Red Flag Academic Scholarship for Women with Bleeding Disorders. This scholarship is designed to benefit women with...

I picked up the following story on my google alerts and wanted to share it with all of you. Not only is it a great example of families doing something proactive to fight misconceptions about albinism, but I also wanted to bring this group to the attention of the HPS community. This foundation has given the HPS Network a grant that will help with some of the behind-the-scenes expenses at conference. I want to give them a great big thank you! And kudos on a job well done! Pioneer Press Vision for Tomorrow Parents work to erase stigma, ease difficulties of albinism January 31, 2008 By J.T. MORAND Staff Writer It was when David Zucker ran into Susan Ballis' house asking for a snack six years ago, that Susan realized her 3-month-old daughter would be fine. David was 4 years old at the time and visually impaired due to albinism. Susan's daughter, Tess, had been recently diagnosed with albinism after Susan and her husband, Jon, noticed their little girl's eyes were moving back a...

Below is a message sent to me this morning from HPS Puerto Rico. I won't be able to watch, so if anyone sees this, tell me how it goes! Hello Everybody From HPS Network PR Chapter; Today 1/30/08 in Telemundo, "Al Rojo Vivo" program with Maria Celeste Arrarás. Interview with some PR HPS members (Ivette and Rick) and some albino who interviewed for a special report in Ponce. Scroll down the page to read in spanish Hola a todos De parte de HPS NEtwork capitulo de Puerto Rico. Hoy 1/30/08 en Telemundo, AL Rojo Vivo con Maria Celeste Arraras. Entrevista con algunos mieembros de HPS en PR (Ivette & Ricky) y algunos albinos que entrevistaron para un reportaje especial en el pueblo de Ponce.

Everyone keep your fingers crossed! When the conference in Puerto Rico took place a news team from the New York office of Telemundo went down and did some filming. We think that this footage is going to air tomorrow night at 5:00 pm eastern on the Telemundo network. We're not 100 percent sure, but that's what we've heard. For those that speak Spanish or just wnat to see it even if you can't understand the words, check it out. Worst case, it isn't there and you've got to change the channel.

See above post - thought you all would enjoy this!

Above is a video created by a Kansas City mom who has a daughter with albinism. You can see her blog, Parent of a child with Albinism, to the side on the blogroll. Check it out! She made this slide presentation. I don't know if any of these kids have the HPS type of albinism, or if any of them have even been tested for it, but I know you guys will love this. She did such a great job! I love the music too!

The following article ran in the ATS Public Advisory newsletter. It's an interview with Donna as she is the incoming PAR President. I thought they did a nice job. DONNA APPELL: AT THE TABLE WITH THE BIG BOYS When Donna J. Appell, R.N., presented a poster on Hermansky-Pudlak Syndrome at the ATS International Conference in 2001, she didn't know much about the Society's newly formed Public Advisory Roundtable (PAR). She was simply a mother who wanted to enlist the physicians and scientists attending the conference in finding a cure for her daughter's devastating lung disease. Ms. Appell is the founder and president of the Hermansky-Pudlak Syndrome (HPS) Network, Inc., a nonprofit support group for patients and families dealing with HPS, a rare genetic metabolic disorder that affects the way cell membranes are made and which can cause albinism, legal blindness, a platelet bleeding disorder, colitis and, the most dangerous symptom, pulmonary fibrosis. Today, Ms. Appell serve...

Kevin O'Brien (nurse pratitioner from the NIH), Carman Camacho (board member HPS Network) and Donna Appell (President HPS Network sit at a table with other HPS'ers in Puerto Rico. Below is a story that ran in the American Thoracic Society's Public Advisory Roundtable newsletter. The story, written by Donna Appell, is about our September HPS conference in Puerto Rico. There will be a shortened version in the HPS Newsletter (coming soon, I swear!). This is exciting because it really gives HPS some exposure in the lung research community. Way to go Donna! HPS HOLDS MOST SUCCESSFUL EVENT EVER IN PUERTO RICO In late September 2007, the Hermansky-Pudlak Syndrome (HPS) Network hosted its most successful conference ever in Puerto Rico, where due to a "founder effect," HPS is very prevalent.According to current statistics, one in 1,800 Puerto Ricans have been diagnosed with HPS, and one in 21 are carriers of the disease. In 2006, the HPS Network held its conference in Are...

It's that time of year again. Just in case you didn't get your registration materials in the mail, the registration is open for the 15th annual HPS Conference! You can download a registration packet at www.hpsnetwork.org . I'll blog more about conference later! Stay tuned - you won't want to miss it.

A big congratulations to Holly Tillman, the first recipient of a scholarship from the HPS Network Scholarship program. This new program was set up by the Kirshner family in honor of Martin Kirshner, a long time and very loyal supporter of the Network. Martin Kirshner was a big believer in the power and importance of education, thus his family felt this was the best way to honor him. The next round of the scholarship program will be kicked off at the 2008 HPS Family Conference in New York. The program is open to those with the HPS type of albinism or their children who are pursuing educational opportunities. These opportunities could be a four-year school, trade school or any sort of continuing education. It doesn’t have to be in pursuit of a degree. Our first winner, Holly Tillman, has a mom with HPS and is going to school to become an art teacher. She’s constantly supported her mom and the Network by raising more than $1,000 for the Network every year. She also recruits her friends to...

Keep those prayers coming for Elizaira! Several of you have been e-mailing and calling wanting to know how she's doing. She has made improvement. She's out of ICU and may be going back to her apartment near the transplant center in a few days. She's also at the top of the lung transplant list - so we really need some of those prayers. It isn't that anyone wants lungs to be available - but if they are we hope they'll work for Elizaira. Also, please pray for her family. I'm sure her children are missing their mommy.

Grief is a part of the HPS community. Until we find a cure, it probably always will be. Knowing how to handle grief as a community, however, is almost as complicated as the emotion its self. I suspect that people regularly pass away from HPS that I never know about. I know that people pass away from HPS never knowing they even had it. Different segments of the HPS community, however, know different people. I didn't personally know Jose, but my friend Rebecca did. I've struggled with whether to post the following item to the listserv because only two people on the HPS adult listserv knew Jose. Yet, I feel so strongly about honoring everyone with HPS, and supporting one another in our times of need and grief. People should feel free to post to the group if they're going through a tough time and need support. How do you weigh the needs of newly diagnosed people with the needs of more seasoned HPS'ers who have experienced more losses? How to we honor those losses while rema...

I have been dreading the new doctor hunt the way you might dread being strung up by your fingernails – I just haven’t wanted to do it and so have been putting it off. But I can’t put it off. My insurance has changed and my beloved doctors are no longer on my plan. This means going on a new doctor hunt and starting all over with someone new. I know it’s wise to start to establish a rapport with someone now, while I’m having few problems, so that when things act up we have an established working relationship. Hopefully, by then I will have built up some credibility so that they don’t think I’m a nut when things seem a bit weird. But, like a spoiled child – I don’t wannaaaaa…… Yesterday I finally made an appointment. Since KUMed isn’t on my insurance plan, I decided the next best hospital for me was probably St. Luke's – they’ve got a good-sized hospital only five miles from my office and another larger hospital campus downtown. After talking to Dr. Seward and Donna, I decided this ti...

Last night Ana sent me the following link. I couldn't get it to work immediately and had decided to put it in my "things to do later" pile. After all, things are quite busy behind the scenes in HPSland right now. I'm unable to even respond to everyone's e-mail right now. But then I called Karen as she's been helping me with a photo issue I'm having with the newsletter. Karen had seen the link that Ana was trying to share and urged me not to put it in the "things to do later" pile. So, I didn't. And I'm so glad I didn't! This MySpace page was created by two young ladies who are suffering with rare lung disease. They've set up this page collecting the stories of people who have rare lung diseases. It's what I've wanted to do for some time now. I said this early on here on this blog, but it's been a while and thus I suppose I should say it again. I would love to post the stories of other HPS'ers - lung disease or not ...

Excuse the sacrilege – it’s just how I feel. Last week was a tough week in HPSland. We lost two HPS’ers. Although I didn’t know either of them personally, the loss of anyone with HPS affects me. I’ve debated about whether to blog about it as most HPS’ers didn’t know either one of these people and I don’t want to upset everyone when there’s no need. But, I feel it’s the right thing to do – whether we knew them or not. They were part of “our army” and they were the brave ones that went before us. They are the ones that have helped to pave the way for better treatments, and one day the cure. How can we not honor them? Although my grief isn’t of a personal nature, I can’t help but react. Last week we were having all sorts of troubles with the magazine, troubles that ordinarily would have me plastered to the ceiling – and yet in the wake of this wake up call, no problem at work seemed really that important. Every day since leaving NIH I’ve thought about my pulmonary function tests and how w...

The following message is from Holly Tillman and then her mom. They asked to post the following message. Good Luck Holly and Karen! Dear Freinds, Family, and HPS Network community, I am involved in a fundraising event to benefit the community of local nonprofit organizations by getting sponsors through a single donation. The organization I have chosen is the Hermansky Pudlak Syndrome (HPS) Network because my mother has this serious illness, and quite frankly I would like to find a cure or a way to help my mother deal with symptoms. HPS causes albinism, a visual impairment, a platelet dysfunction with prolonged bleeding, and progressive symptoms include pulmonary fibrosis a terminal lung disease, Crohn's Disease, and kidney disease. My mother is having to deal with all but the kidney disease on a daily basis. At the moment there is no cure for the disease, you can only treat the symptoms, and death occurs in patients with pulmonary fibrosis usually in their 30's and 40's. My...

Everyone please say a prayer for Elizaira. Here she is pictured at her home in Puerto Rico with her husband and two adorable kids. Currently she is in Washington on the waiting list for a lung transplant. She's had a rough week and has been in the hospital. She needs those lungs ASAP. Elizaira, we're all pulling for you!

As many of you have heard me mention before, my office away from the office is Homers Coffee House. Think of it like a Christian version of the bar Cheers with lattes instead of liquor. Everyone actually does know my name. Grin! Not only is it an easy two blocks from my house, but it was the first place that helped me to an HPS Network fundraiser soon after I was diagnosed. Needless to say, I do go and hang out at Homers, usually when I’ve got a lot of work to do but have a bad case of cabin fever. One of the things I like about it is people watching. It isn’t that I’m trying to ease drop really, but sometimes you overhear some of the most interesting conversations. Two days this month I’ve found myself working at Homers during the day – something that’s a bit unusual for me. I’ve had to go home because of a bleeding incident, but my internet connection has been wonky (even with new baby) and when I need on the net, I really need on the net. So, when I’ve managed to at least contain my...

I was pleased to hear the following story on NPR this morning. I thought many of you would enjoy it - and that many some of you with kids might want to check out these books. An Astronomy Book the Blind Can Appreciate by Nell Greenfieldboyce Listen Now [3 min 37 sec] add to playlist Morning Edition , January 16, 2008 · Telescopes have captured astonishing images of far-away galaxies and other cosmic mysteries. Now, a new book called Touch the Invisible Sky is helping everyone appreciate those pictures, even people who can't see. This isn't the first book written by Noreen Grice, an astronomer who works at the Museum of Science in Boston. Back in 1984, Grice was a 21-year-old studying astronomy at Boston University. She had a job at the planetarium, and one Saturday, a group of blind people came to the show. "I didn't know what to do because I didn't know anyone who was blind," says Grice. Her manager told her to just help the people to their seats. After the ...

Here's another quick pic from the Puerto Rico conference. They guy in blue on the right is Jose - he's the scheduler at NIH and helps look out for our HPS'ers when they're in the hospital. He's such a nice guy!

I’ve been so busy since getting back from NIH that I haven’t had a chance to update on all the visit – and well, umm, to be honest, it’s a little embarrassing. But, yesterday this “little” problem reared it’s head and I had a very HPSish day – groan. For about four months now I’ve had this “sore” thing on my breast. It started out as just one of them, and has now morphed to four of them. They start out like little zits. They’re sore and when they rub against something they hurt until eventually, they burst open in all their pussy glory. And then they bleed, which isn’t an earth shattering problem as much as it is an annoying problem. When I was at NIH last time they cultured the sore and decided it was a minor little staph infection. I did antibiotics and it went away, only to reappear about a month later. I went to my doc. at home and was given more antibiotics. It pretty much went away again, and then came back. This time when I was at NIH they were scabbed over and so couldn’t be cu...

A while back I was waxing nostalgia for my teen years in Germany. I was remembering all the things I loved about living there and got it into my head that I should try to find our old house on Google Earth. Via satellite view, I carefully made my way down the streets of Osterholz, out to Wahlhofen and around the corner that was the turn off to our house. I recognized, even from the air, old 17th century barns and houses, but when I came to the place where I thought our house should have been, it was gone. I retraced my steps several times, trying to find my wrong turn, but I couldn’t find it. Deciding that I must have not remembered some turn, some road, I put it aside. Then, over the holidays I happened to mention the hunt to my mother. “Oh,” she said, “That house burned down. It isn’t there anymore.” Burned down! For some reason in our minds history is a stagnate never changing thing. The house that I remember as a home could not have possibly ever changed, let alone completely disap...

I've spent most of the weekend working on the HPS Newsletter, and it isn't even half finished. But, Donna sent me some additional pictures of the HPS Family Conference in Puerto Rico, and I thought I'd share some of them here. This is Kevin O'Brien, the nurse practitioner that cares for the adult HPS patients at NIH. Here he is holding a baby at the conference in Puerto Rico.

It's been a busy weekend. Here are a few more pictures of my most recent trip to Washington. This is a street in Old Alexandria.

I still can’t get over my pulmonary function tests. It’s such a complete turn around from where I thought I’d be at this time and I’m so grateful. But while the lungs are the “big daddy” issue, they aren’t the only issue. This week I’ve been sooo tired! My GI issues have been great, but it’s been a difficult “HPS female” month. All I want to do is sleep. I’ve fallen asleep at my desk several times this week. Wednesday I was so tired that while waiting for the bus I fell asleep standing against a telephone pole. Thank God the bus driver knows me, stopped, and honked to wake me up! Yesterday I left work three hours early. I was struggling so hard to concentrate and stay awake. I suspect I might be a bit anemic, but given what my numbers were just last week at NIH, I can’t imagine that I’m so anemic as to make me this tired! Needless to say, a few things I’m doing for HPSland are a little behind right now. Between my fatigue, and my computer problems, it seems like things are creeping alo...

Last week while at NIH I had more time than usual to watch TV. One of the shows I watched while lying in bed was Donny Deutch’s The Big Idea. He was interviewing Liz Lange , a very successful business woman who started and sold a multi-million dollar maternity fashion business, about her battle with cervical cancer – something she’d kept the world in the dark about through her treatments. I want to preface my response to the show by saying it is in no way meant to be a criticism of Lange’s decision to keep her cancer under wraps – or of anyone who opts to keep their medical life private rather than blog about it for the entire world to see. How we handle issues surrounding our illnesses is personal and what’s right for me might not be right for someone else. But sometimes our gut responses to things are just that – gut responses – and they aren’t always fair, politically correct or even very polite. My gut response to the program was something along the lines of “must be nice to have t...

As we nail down various pieces of the agenda for the HPS Family Conference I’ll try my best to let you know what you can expect at this year’s conference (barring a catastrophe like the make-up lady not showing up last year – grin!) I’m very honored and pleased to announce that Dr. James White will speak at this year’s conference. Dr. White is the hematologist who performs the electron microscope diagnostic testing for Hermansky-Pudlak Syndrome. Most of us that have an HPS diagnosis have had our blood shipped off to Dr. White at the University of Minnesota at some stage. Dr. White was one of the first HPS researchers. He actually had the honor to meet and get to know Dr. Hermansky and Dr. Pudlak, the two Czech doctors who originally identified the syndrome in 1959. He’ll share with us some of our “HPS culture” to help us better appreciate where HPS research has been, and where it is going. I’ve talked to Dr. White several times on the phone, but I’ve never met him personally. I’m reall...

I got an e-mail this morning from our friends at www.goodsearch.com to let us know that our check for 2007 is in the mail! In 2006 we earned about $36 on Goodsearch, even though we didn’t join until September. In 2007, we earned about $59. That’s not too bad considering we earned it a penny at a time, but folks, I know we can do better – much better. A number of you have mentioned to me that the simple fact of the matter is you prefer Google. I understand. There are a lot of things for which I also happen to prefer Google. And Google is doing its part to reach out to not-for-profits. The Hermansky-Pudlak Syndrome Network (behind the scenes) is making use of “Google Apts.” – an opportunity the company made available to us free for the next year. One of those applications is Google Donate on the HPS Network Web site – something that in only a few weeks has already netted the Network about $300. So, I don’t want to knock Google. But, folks, www.goodsearch.com is the easiest fundraiser e...

Here's an update on the Target lawsuit I mentioned on this blog several months ago. It's such a shame Target just doesn't bite the bullet and make an effort to be accessable. I'm also including a story about Amazon.com - a company that (thankfully since I love them) took a different approach. Since I do have a fair amount of usable vision, often I can navigate sites that aren't completely "blind friendly." But, it's not really about whether I personally can navigate them. It's about the principal of the matter. Creating a retail outlet online that can't be accessed by blind shoppers is like creating a brink and mortar store and posting a sign on the door that says, "Blind shoppers not allowed." Let's all give Amazon some kudos for making the effort! First, the Target update: 1/2/2008 FOR IMMEDIATE RELEASE CONTACT:John G. Paré, Jr.Executive Director for Strategic InitiativesNational Federation of the Blind(410) 659-9314, extension ...

I came across this blog today and thought it would be of interest to many of you. When I was a kid, I was completely facinated with any type of animal with albinism. This blog collects news stories about sightings of animals with albinism and there are lots of pictures - although keep in mind much of the text comes from the original source. Anyway, check it out at: http://whitershadeoftail.wordpress.com/ .

Ahhh, yes, nothing like sight seeing with three people with albinism! Grin! As we approached the temple, I started up one path and Julie and Ryan started up another. Julie says to me, "I think something's in the way up there, come over to this side." I said, "I think you're right, it looks like there's some rocks in the path up there." As we got closer the rocks started to move. Turns out they were geese! We were cracking up - beware of moving rocks!

We went and walked around Old Town Alexandria a bit, although we didn't do too much walking, thankfully, as I was in some pain. We stopped to warm up at a place called Murphy's, an Irish pub sort of place. They had a nice fireplace. Here's Ryan looking at the menu.

This is one of six windows flanking the entrance hall of the Mason Temple in Washington.

This is the entrance hall at the Mason Temple in Washington. The statue is of George Washington and on either side the walls are covered with murals depicting his role in several key Washington historical events.

On another floor of the Mason Temple in Washington there's a room that has what looks like Egyptian paintings on the walls depicting stories of the Old Testament as well as this little area meant to depict the Holy of Holies in the Temple in Jerusalem. Pictured here are a Menorah as well as what the Arch of the Covenant was supposed to look like. The Masons told us on the tour over and over that they weren't a religious organization and that they were open to people of all faiths. But, at the same time, there seemed to be "sects" within their organization that do have a spiritual bent to them.

I have more medical information to share, but I've been blogging on "baby." We haven't been able to get Ryan's wireless network to work, and rather than type those entries all over again, I'll just post them when I get home. In the meantime, I spent the day with Ryan and our friend Julie. They were so very patient with me because despite the great medical news, I wasn't feeling well. I've got this cold, and well, is an HPS that-time-of-the-month. Needless to say, had I been at home I would have been playing it low key. But, I just couldn't stand to spend the day in bed in Ryan's room. Since I was with other HPS community people that understood (so I wouldn't have to fake it) we went ahead and Ryan and Julie were just very patient with me. We went to the famous Mason Temple in Washington - a shrine to George Washington and the Free Masons. These windows were in a chapel in the building supported by "The Knights Templar." I'...

I'm so sorry I haven't been blogging! When I arrived at NIH the floor those of us with Hermansky-Pudlak Syndrome typically stay on had been closed for the holidays. They had shut everything down, including all the patient computers, and for the first day no one knew how to get the internet access back. This evening they finally brought me instructions on how to make the wireless connection work, but they're in tiny print. So, I I have been blogging, but I'll have to post those entries later, maybe when I get to Ryan's. But, I thought I'd post briefly just so you all would have an idea of what's going on, at least on the medical front. I had a great flight into NIH. I got to take my favorite airline, Midwest and I got not only the big Midwest seats, but no one was sitting next to me. I took the baby with me and wrote most of the Marketwatch department for the magazine while listening to music - it was great! The battery on the computer doesn't die out qui...

After marveling at the symptom and drug log I keep for NIH, noting happily how few sinus infections I’ve had and how much better my tummy issues have been - I think I jinxed it. I’ve spent New Year’s Eve and New Year’s Day with the sniffles, on and off low grade fever and sore throat. It would be nice to have one NIH trip without some other medical issue going on. I’ve been blowing my nose so much that now it’s all chapped and I’m doing my Rodoff impression. I’ve also been loading “the new baby.” It’s amazing how many active projects I have going and how many things I need to load onto the new machine. So much of what I do on the computer is by memory. It takes some real practice to learn a new computer.