Living on the frontlines

I think I jinxed it. After posting that my GI issues were better, apparently my bowels decided they were being ignored and wanted more attention. I've had cramps and the runs and joint pain every since I last posted. I've also been hugely tired. I spent most of yesterday in bed, and about half of today. It wasn't intentional. Every time I sat down I'd fall asleep. Finally, I just gave up and got comfy. And the skin that had been its best in years - well, there's a new ulcer about the size of a quarter. It only bleeds a tad, but I had four code browns yesterday. Drats! This is when I get blue. Everyone's been worried about me being blue because of having to go on disability. I only get blue when I've got things I want to be getting done, and my body vetos the idea. That makes me frustrated. I feel as though I should be able to just toughen up and get the job done, but when you can't stay awake that's hard. Maybe I should start taking the stuff Dr. Mar

While doing my HPS research I found another Web site that might be of some interest. It's a search site for camps for visually impaired kids. Some of you might want to search the site, and others might want to make sure your camp is included. http://www.kidscamps.com/special_needs/visual_impaired.html

One of the things I'm working on for the Hermansky-Pudlak Syndrome Network that in a previous post I included under "outreach projects" is I'm building a database of every non-profit or government agency that serves the visually impaired. The truth is we just can't rely on doctors to diagnose Hermansky-Pudlak Syndrome. I'm hoping to engage the greater blind/low vision community to help us get the word out. That means that in my research I'm finding all kinds of cool stuff related to blindness and low vision. This evening I found a non-profit based in Philly called National Exhibits by Blind Artists. They have an annual art competition and organize national touring shows for winners. I must confess, one reason I've never taken my artwork past "hobby" and never studied art seriously is that it always bugged me that I could never tell if people that were responding positively to my artwork were really responding to the work, or the fact that I d

For those in the hunt for scholarships, here's another link that you might find helpful. The first few are ones I've posted before, but keep reading down - there are some new ones. http://www.state.nj.us/humanservices/cbvi/webscholarships.html

I got so busy I didn’t get to blog about one of the most important events of the year – Adventure Fitness caroling and Echo and Karen’s annual after party. Although I’ve only been a part of this Kansas City ritual for about five years, now it just doesn’t seem like the holidays without it. Adventure Fitness (not sure if that has always been the name or not) is a program that started many years ago. I’m a little hazy on the exact details. What I do know is that it was organized for a number of years by Linda Ray who was the teacher for the visually impaired in the Shawnee Mission school district for decades. Often kids with visual impairments get left out of sports. They don’t always have the vision or the related hand-eye coordination to play many of the popular competitive sports. Personally, I remember gym class as my own personal hell on earth. Not only did I spend most of the hour completely clueless about what was happening, but I had to endure the added social humiliations. I was

Here’s a health update, mostly for my personal record keeping. When it’s getting close to an NIH admission, I read back through these and look for trends. NIH wants me to keep a regular journal, but if you journal about your health stuff every single day, it’s easy to get too wrapped up in it. Overall I’ve been doing a bit better, but am somewhat concerned that I still haven’t completely shaken this cough. I’m concerned there might be some inflammation – maybe asthma-like stuff – going on in my lungs. The cough is fine as long as I’m sitting up and not active. As soon as I try to go to the gym, walk more than two or three blocks, do housework, carry laundry up and down the stairs, I’m hacking a dry cough that if it goes on, starts to sound like a dog barking. I feel as though there’s something stuck in my throat when I cough – and the coughing always happens when I breath out, not in. It’s worse at night. Abuderol does help, which is why I think it might be an asthma thing. It doesn’t

Here's this week's 100 People Search update. This week we added another person to the Hermansky-Pudlak Syndrome database. I don't know anything about the back story (many of you are interested to learn how the person found the Network - I always am as well). Renee, who works in the office, e-mailed me to say she had added another member, but that's all she said. So, we are now at 43 people left to find to meet the Hundred People Search (HPS) challenge. Keep working on it folks! It would be so nice to have met our goal by conference!

Thanks to several of you who were so thoughtful this holiday season, I’m recovering from my post-Christmas eating orgy at Homers by drinking a latte and working on some projects. (Kevin would have killed me yesterday if he’d known what I was up to – but it was Christmas!) I’m trying very hard to make working for the HPS Network, whether I’m being paid or not, my full-time job these days. The trouble is I’m not on disability right now for nothing and sometimes I just can’t get it all in. But, when I’m really involved in a project, it’s so helpful to be able to get out of my apartment and go to my “virtual office” – Homers. I want to work from home. I don’t see how I can ever work again otherwise right now. Between all the doctor’s visits, health problems etc. it seems like working from home is really my best option and I think I have a good temperament for it. Yet, as perfect as it sounds, there are days when the dust on the shelves in the living room, or the dirty laundry in the hamper

Better late than never - one of my Christmas presents to myself was to finally get my tree up. I didn't get it finished until Christmas eve, but it snowed much of the day and it was so fun to decorate the house and listen to Christmas music as it snowed outside. The only down side was I didn't make the candle light service at church as I had wanted. The dust from all the Christmas decoration boxes and the many trips up and down the stairs seemed to really kick up the old asthma. I was coughing a lot. These days I tend to avoid church services when I'm coughing a lot because I feel so disruptive. Everyone's trying to be helpful and hand me cough drops and water (neither of which really help much) as the minister is trying to preach. It makes me feel bad to be so disruptive to the sanctity of the service.

By now the Appell family should have gotten their gift as well so I think I'm safe posting a photo of it. The Appells live in a heavily wooded area on Long Island and every year when we have our board retreat at their house it's fall time. The leaves are so pretty! And the road going up to their house is curvy like this. I didn't take a photo when I was there, but I found some photos in some photography books that reminded me of it and used those, in combination with my memory, to paint this. It's very impressionistic. But then again, several of the famous impressionists were also legally blind! Go figure.

For a while now some of you have wanted to see some of my paintings. It has been years since I've finished a painting, but now that I'm home I've been painting again and very much enjoying it. I can post this now because my mom should be on a plane on her way to the United States. This painting is wrapped in snowman Christmas wrap for her when she arrives. It's hard to photograph artwork without a proper set up to do it, but this is my best try.

Here's another scholarship opportunity that might be of interest to those with Hermansky-Pudlak Syndrome. It's from Project Red Flag and is for people with bleeding disorders. I know many of you are waiting for news on the HPS Kirshner scholarship. Well, it seems we had so many great applicants this year the Kirshners are having a hard time choosing a winner. They've asked for a bit more time. Here's the link for the bleeding disorder scholarship: http://www.projectredflag.com/scholarship.htm

Tim sent another photo that he says is one of his favorites. This one is of the doe fawn - although when does a fawn officially graduate to a deer?

Regular readers will remember that a short while back I posted a photo I'd fallen in love with of two fawns with albinism. The photo had come in one of those forwarded e-mails that goes around the country and it made it's way to Kathryn. Kathryn sent it to me. We had no way of knowing who took the photo, but suspected it was taken by some guy named Tim. Well, you'll never believe this! Tim found us and his photo here on the blog. He was gracious enough to send two more photos. He says the fawns have visited his yard in Minnesota for more than two years now nearly every day. He and his wife say are honored to have such rare and beautiful creatures visit them. And, to give the photographer credit, his name is Tim Roeschlein. Just a few days ago a local news channel did a story about the fawns and you can see it yourself at: http://kstp.com/article/stories/S348404.shtml?cat=1&v=1 . I know you all will enjoy it - and I suspect many of the kids with albinism will get a

Thanks to Lisa's work, we have an updated HPS world map. These are all of the places around the world where we've been able to document cases of Hermansky-Pudlak Syndrome. Although HPS is most common among those from Puerto Rico, it does occur all over the world. This is very important for people to understand as too often those seeking testing are told, "You couldn't have HPS - it's too rare and you're not Puerto Rican."

Some of you have been e-mailing and calling wanting the rest of the story on my skin infection and the biopsies taken by the dermatologist. Well, leave it to me to throw everyone a monkey wrench. It turns out I contracted a bacteria that is a bit unusual (so I’m told) but typically transmitted in hospital settings such as an infected central line or I.V. Since I’m in the hospital at least three times a year, and spend a lot of time with other people that are often in the hospital, this isn’t a big shocker. Instead, I’m looking at it as another “educational moment” in my life. I am now officially a germaphobe and will be carrying Purell at all times. The bacterium is Spingomonas Paucimobilis. I’m sure I didn’t get it when I had the IVs for my IUD thing last April because I’ve had this infection longer than that. The good news it is treatable and doesn’t cause too many nasty problems other than the ones I’ve already experienced – although that was a bit more problematic thanks to my blee

The 100 People Search challenge continues and this week we added one new family to our HPS family. That means that we've got 44 HPS'ers left to identify to meet our challenge. Once again, this was a case of one person informally telling another about Hermansky-Pudlak Syndrome and the Network. It does help not to be afraid to approach someone and ask them if they're aware of HPS. How many people might have never had a chance at the right health care or treatments only because those around them were too afraid to simply and politely just put it out there?

This is a link I thought many of you would find valuable - these are all organizations that give scholarships to those who are legally blind. http://www.afb.org/Section.asp?DocumentID=1845

It’s that time of year. It’s the time of year when a lot of scholarship applications are coming due. For those anxious to know who this year’s winner of the Kirshner Scholarship awarded annually to someone with Hermansky-Pudlak Syndrome or their children, I don’t yet know who the winner is – but I’ll post it when I know it’s been cleared by the Network. In the meantime, the subject of how hard it is to pay for school has come up on the HPS adults listserv. In this economy, I’m sure it isn’t easier than when I was in school! I feel for today’s students. It’s the rare exception that graduates and doesn’t start life straddled with debt. But, in my history I’ve also served on scholarship award committees and it’s amazing to me how few people sometimes apply. I think it’s hard to find the scholarship opportunities out there and people give up trying. Or, they think if they don’t have straight A’s there’s no point. I’m here to tell you – there’s money out there going unclaimed. To many, this

Last week we added another person to the HPS patient database - that makes 45 HPS'ers left to find on the 100 People Search. The story behind this latest member is a great illustration of how educating your friends and family about the HPS type of albinism can actually help identify new families. A friend of Carmen's came to the HPS Conference in Puerto Rico. He wanted to see Carmen. In the process he got quite an education about HPS. The other day he was eating dinner in a Chili's restaurant when he spotted a family that had a little boy with albinism. He went over to introduce himself very bravely. It turns out the little boy has an uncle that had albinism and passed away of lung disease - and it turns out the little boy has HPS. We would have never known about him or been able to give his family support and information if Carmen's friend hadn't been so daring, and so well informed. Never underestimate the power of networking!

If you’ve never seen the movie (I think it’s from the 1980s or early 1990s) called Planes, Trains and Automobiles, you really should see it. It’s been a long time since I watched it, so to be honest I can’t give you the sex or dirty language rundown – all I remember is how funny it was. And now, I feel like I’m living the paperwork version of that movie. It seems as though with insurance companies and the government, the shortest distance between point A and point B usually involves going to points C, F, Z somewhere along the way. I’m so high strung these days that the resulting stress usually causes me to make matters worse by throwing in a few detours of my own. The paperwork for my long term disability insurance is finally submitted. It was reviewed (and filled out) by the appropriate medical gurus and some other members of my personal brain trust. But while they were reviewing it, my printer has stopped working. I can’t find the trouble, but I think I might have caused it while try

I have fallen in love with this photo. Kathryn sent it to me a few days ago with several others. For some reason the others won't download, but there's a really good shot with the mother deer looking on. These are twin fawns with albinism. Kathryn got the photo from one of those forwards that goes around the internet. I'm hoping maybe someone in the albinism community took the photos as I'd love to know who took them. They should be on a Christmas card or something. I thought many of you would also enjoy them. And if you're the photographer, please contact me so I can gush in person.

This is an update on the situation in Tanzania. Noel brought it to my attention. Thanks Noel! The article appeared in The Sun from the U.K. Welcome to Albino Island By DAVID LOWE Published: 09 Dec 2008 WITH their milky white skin, wispy hair and haunting, pale eyes, they are called “the living ghosts” by locals. And the vulnerable albinos of Tanzania in East Africa have more than insults to fear. They are being hunted down and hacked to death to satisfy a growing demand for their body parts and blood to use in black magic. It is the stuff of nightmares. In the Mwanga district, near Mount Kilimanjaro, a baby girl was dressed in black by her mother and left alone in the family hut. A group of men cut off the pale girl’s legs, slit her throat, poured the blood into a pot and drank it. In another sickening case a man was caught trying to enter the Democratic Republic of Congo with an albino child’s HEAD in his luggage. He said a businessman in the country had offered to pay generously for

The following article appears in the National Federation of the Blind's Braille Monitor. For those with Hermansky-Pudlak Syndrome, or others who are legally blind, this information might be useful. Mr. McCarthy did a great job of summing it all up. Social Security, SSI, and Medicare Facts for 2009 by James McCarthy From the Editor: Jim McCarthy is a government programs specialist for the National Federation of the Blind. He concentrates on Social Security issues and provides an annual summary of Social Security changes: Once again we toast the passing of the old year while awaiting the new one. Along with the inevitable best-of lists and retrospectives, this inevitable passing of time is accompanied by annual adjustments to the Social Security Disability Insurance (SSDI), Supplemental Security Income (SSI), and Medicare programs. The changes include new tax rates, higher exempt earnings amounts, and SSDI and SSI cost of living increases, as well as alterations to deductible and coi

This past Friday was the annual concert by the group “J” to benefit the HPS Network. We don’t yet know what the final tally will be, but I’m so happy to report from Donna that we had a record attendance – more than 450 people came from around Oyster Bay, New York. What a great community to come out and support those with Hermansky-Pudlak Syndrome in this way. We are so blessed to have been adopted by such a caring place. I’m also happy to report, for those that sent crafts, that our first real try at a craft table was a success. We sold a lot of the crafts – although some were left – but we made more than $200 just on the crafts. Now that we know there’s a market, we’ve got another year to work on things and to promote the craft table a little better. Every time you do something new at a fundraiser like this, you learn a little and do it even better the next time.

Karen sent me this recipe. We just talked about how much I love things with cranberries in them. I can hardly wait to try it. One of the folks that I volunteer with made this, and it is quite good. When you get a chance, let me know what you think. Karen T Cranberry-Apple Casserole Ingredients: 3 cups peeled, chopped apples (2 large apples of your choice) 2 cups fresh cranberries or frozen cranberries (thaw before using) 2 tbs all-purpose flour 1 cup sugar 3 (5/8 oz) packages instant oatmeal w/cinnamon & spice 3/4 cup chopped pecans 1/2 cup all-purpose flour 1/2 cup firmly packed brown sugar 1/2 cup butter or margarine, melted Pecan halves Additional fresh cranberries Instructions: Combine apples, 2 cups cranberries & 2 tbs flour, tossing to coat; add 1 cup sugar, mixing well. Place in a 2 quart casserole. Combine oatmeal, chopped pecans, 1/2 cup flour and brown sugar, add butter and stir well. Spoon over fruit mixture. Bake, uncovered, at 350 degrees for 45 minutes. Garnish

It’s amazing how one minute I can feel so calm and serene about life, and the next be on the verge of a panic attack wondering what I’m going to do next. I haven’t done much with my artwork in years. I haven’t had time. I haven’t had the eye stamina after long days of writing and editing. And now I’m rediscovering this hobby, although I’m a little out of practice. I finished the artwork for Ryan and Sara’s wedding program. They seem be okay with it, although I’m not entirely happy with the result. It’s performance anxiety. When I’m doodling with my paint sometimes the most amazing things happen and I can’t even believe I did it – but when I try to do something on purpose suddenly I’m all thumbs. In the back of my mind I’m picturing Ryan’s future grandchildren going through some trunk in the attic someday and finding that program. After they get past figuring out who great aunt Heather was, I can picture them saying to themselves, “What’s this? What was she doing?” Now I’m going to have

I finally heard from vocational rehabilitation services about my application to open a case. It’s been about a month and a half since I applied. To be honest, although it sounds like I’m impatient, I expected it to take this long. There’s a huge backlog at rehabilitation services in Kansas. It shouldn’t be that way – but the problem isn’t the poor folks working on the front lines with the huge case loads. It’s the lack of support from the bigger system. But, that’s another blog entry. My county doesn’t have a Services for the Blind counselor. Evidently the post was vacated, and no replacement has been hired – thus I have a counselor from a neighboring county. He told me on the phone he’s had a flood of new cases. Given the state of the economy, I’m not surprised. We have a meeting set up for December 19th. Besides bringing all of my medical and financial details, I need to arrive with some sort of plan, a vocational goal (or at least some ideas) in mind. I’ve always been a driven perso

Today was my appointment with the dermatologist about this skin issue. Wouldn’t you know it by the time I finally get in to see the dermatologist, the sores are actually healing up. But I kept the appointment because, given the history of the last year, I think I can bet money they’ll be back. Just for my own personal documentation purposes, if I was working I would have missed a half a day of work today for this appointment. These sores aren’t serious, just annoying. They bleed – and sometimes they bleed so badly that they bleed right through my bra and blouse and cause quite a scene. Other times they just bleed a little bit – and when they’re new they’re pussy. You just never know. When they finally do heal they leave behind these purple scars. The doctor did a complete skin look over – and I do mean complete. I was relieved it was a woman as for some reason I wasn’t expecting that. She complemented me on what good shape my skin is in given that I have albinism. She didn’t see a lot

The following article is from the November issue of The Braille Monitor. It's about the National Federation of the Blind's scholarship program. I'd urge any HPS'ers that meet the criteria to apply. Most state affiliates also offer scholarships, and they usually use the same form. There are many other organizations that are vision (or lack thereof) related that offer scholarships for legally blind people. Check it out. I was once an NFB national scholarship winner, and it was a great experience - even though I was sick as a dog the entire convention week. Looking back I'm darn lucky I didn't end up in the hospital that week. I was so anemic! My Crohn's stuff was going to beat the band at that time. More Than Just Money for SchoolThe 2009 NFB Scholarship Program by Anil Lewis From the Editor: Anil Lewis is a member of the NFB board of directors and president of the National Federation of the Blind of Georgia. Last year he was appointed to follow Peggy Elliott

Since I quit working and my finances have gone from strapped to ultra strapped, I’ve been making a bit of a game out of how frugle I can be. There are certain little luxuries in life I want more than others, and I decided that television was a luxury I could live without. I’d much rather have the extra $30 (if I end up having it which is iffy) to go to my nearby coffee house, hang out with the people I know there, listen to live music and pretty much get out of the house on the cheap. Living without television is something I’ve done before. All during my high school years we lived in Germany. We were far enough from the American community that we couldn’t get the Armed Forces Network (AFN). So, back then before cable TV or a satellite dish was such an affordable thing, we just did without. We watched German television, which might have helped my language skills a tad. Sometimes we’d make entertainment out of making up our own stories to go with the action on the television set. It was

I am posting this from Carmen. She knew Roberto much better than I did, so it's fitting that she be the one to honor his life. From Carmen: This note is to say goodbye to a good friend, Roberto Vasquez. About 10 months ago I started to be a phone pal for my friend Roberto Vasquez. It started as a weekly phone call to cheer him up while he waited for his lung transplant. OH boy, was I wrong!! Pretty soon, he was my weekly call to cheer me up!! He moved to NY with his sister after learning that he was in need of a lung transplant. He was optimistic and positive and always found reasons to state that he was lucky as he knew there were others sicker than him. He was always looking at the good in life and he laughed a lot, even on the bad days. He would have a bit of a pity party and end up laughing at the end. He always joked about how come we could not have lungs from a pig - somehow every little problem in the world could be resolved by pigs. (grin) Well, Roberto decided half way th

This is just an update for documentation purposes. I am feeling better, but still have not shaken this cold completely – and we’re going into week three! I’m still coughing, still have a sore throat, although it isn’t as bad as it was, and still have a runny nose. But, I don’t feel as achy, feverish, or generally cruddy as I did before. And the cough, while not gone, is better. I’ve had an especially hard time staying adequately hydrated. I have to pay attention to this, even when I’m feeling normal, but this cold – or probably the medicines – have managed to suck every possible drop of water out of me The upside is the code browns slowed down. I only had one ostomy leak in a week, and since things were so “thick” it was easy to catch before total disaster struck. That is until yesterday. Yesterday was an HPS day. It took me forever to get ready in the morning because one of the sores from this infection on my breast decided to bleed – and bleed a lot! When I woke up my nightgown was p

Here's a pic of our attenpt to generate interest among the geneticists - I guess scientists and journalists are a lot alike - food always works.

I’ve waited to blog about this until after it happened – and I’ve been delayed by all this horrible hacking – but it’s been on my mind for weeks now. My brother volunteered to undergo a lung lavage at the National Institutes of Health to help the researchers there working on Hermansky-Pudlak Syndrome. I’m so proud of him! I didn’t want to blog about it beforehand, or even mention it on the listserv, because I didn’t want Ryan to feel any additional pressure to do it should he have second thoughts. The lung lavages have been very useful to the scientists working to find a cure for the pulmonary fibrosis of Hermansky-Pudlak Syndrome. Because of the bleeding disorder associated with HPS, they cannot take samples from our lungs for fear of complications – so the lung lavages offer the closest look possible at the disease process in the lungs as it unfolds. Lung lavages aren’t horrible, but they aren’t exactly fun either. The doctors put a tube with a camera on the end down your throat, pas

Here's Dr. Merideth's poster. Unfortunately, you can't read it from the pic - but I'm pretty sure she will present the results at the HPS Conference in New York.

Here Donna is posing for a picture with Carmelo (sp? sorry Carmelo if I got it wrong!). He's one of the researchers in Dr. Gahl's lab working on the molecular issues of HPS. He tells me he considers his work an honor because he's also from Puerto Rico. He feels he's helping his native land by researching HPS.

Representatives from the HPS Network attended the 50th annual meeting of the American Society of Human Genetics (ASHG), held Nov. 11 – 15, 2008 in Philadelphia. Their goal – to increase awareness of HPS among geneticists and to promote HPS screening for those with albinism. Often families with a new diagnosis of albinism are referred to geneticists. Parents are either discouraged from spending the money to discover the specific gene causing the albinism, or geneticists do testing for pigment genes known to cause albinism. Known HPS genes are not part of that panel of tests. Genetic testing for HPS can be inconclusive because all of the HPS genes have not yet been identified. But, a simple blood draw sent to Dr. White at the University of Minnesota can easily be done. Dr. White views the blood platelets under an electron microscope. If he sees dense bodies in the membrane of the platelet cell, then the patient doesn’t have HPS. If the dense bodies are missing, than the patient does hav