Living on the frontlines

As you can see from these photos of the driveway area at my Dad's, he doesn't live in the mountains exactly. Instead, he lives on a high plain between Colorado Springs and Denver. It's almost like a high desert as it's so dry, however, only a few miles away more trees grow etc. as you get closer to the mountians. We actually had more snow in Kansas City, but here, the snow blew so much that you could hardly see a thing until this beautiful sunny day dawned. It was a reprieve before more snow.

This is Dad's Christmas present. You'd never guess, but my Dad is very sentimental. I wasn't in the house two seconds when he was dragging me off to his study to show me some of my airplane drawings he'd framed and hung. I then knew that despite my pitiful Christmas budget, this couldn't have been a more perfect gift. This is supposed to be a T-38. My Dad flew them in the early part of his Air Force career when he was a flight instructor.

We were all so tired after the shows. I don't know how Donna has so much energy. We were all worn out! Here's Carmen, having changed into her pajamas, callapsing and warming up by the fire. I tought the stone looked a little uncomfortable, so I told her to join me on the couch and share my quilt. The above photo is Carmen's head sticking out one end, and my head (with camera) is evily sticking out the other end.

After the last concert, we all went out to dinner. Again, my camera wasn't taking great photos with the limited light and this is the only one that came out. Five restaurants in Oyster Bay gave 10 to 20 percent of their proceeds to HPS for anyone's bill that mentioned the cause all weekend. This was one of those restaurants.

I didn't take photos of the board meeting. I think I was too busy thinking about the actual meeting. We went out to eat after we met, and most of my pics from dinner came out very blurry. But, these came out nice! We were joined by some of our loyal HPS volunteers. You might recognise them from conference. What would we do without them????

I spent a wonderful Christmas at my Dad’s house with my stepmom Patti and my stepsisters. I did have a bit of health-related trouble while there, so I now need to record it for the “record.” For the week before I left, I felt as though I was fighting something. Besides being so tired (which can be a usual thing for me), I really didn’t have much else in the way of symptoms. But almost as soon as I arrived in Denver, I started feeling poorly. I felt achy and my head hurt. By the evening I couldn’t even think about using my CPAP because the air on my sore throat was torture, not to mention the mask on my forehead and cheeks which also just ached. I didn’t seem to have a fever, but clearly I was having sinus issues. The next day I felt somewhat better and we did a little shopping, but I was so easily out of breath. I thought that was likely because of the altitude, but then again, better safe than sorry. When the next day brought no further improvement, I decided it was time to see a doct

Carmen posted this to the HPS adults listserv, and with her permission, I am reposting it here. I think we should make it a holiday tradition. I would only amend that I personally don't want a magazine - thanks Carmen. What a head ache! I want a nice grant for the HPS Network that would allow us to hire the staff we need, and maybe give me enough of a stipend that I no longer have to spend time looking around for other work, or working on anything else. Just adding that so you know Santa! Dear Santa: I have been thinking verary hard about what I really want for Christmas. I know I am a bit late, but I wanted this letter to be perfect. I have so many things; I wanted nothing to be forgotten. Sorry for the long list, but I think you can handle it: Can you please: 1. Bring Heather her own magazine, so she can be the owner, editor-in-chief and that all the advertisers wanted to have spots in it. It will be the best magazine and it will bring the word about HPS all over the world

Feb. 28, 2010 we will celebrate World Rare Disease Day – a day designed to highlight the unique issues surrounding living with a rare disorder. Rare Disease Day got its start in Europe in 2008 by the European Rare Disease Organization. The National Organization for Rare Disorders began to sponsor the event in the United States in 2009. In the United States a rare disease is any disorder that affects 200,000 or fewer patients. This year’s Rare Disease Day will focus on the challenges of researching rare disorders. For more information about NORD’s efforts for Rare Disease Day, visit: http://rarediseaseday.us/ For more information about Hermansky-Pudlak Syndrome or any of the HPS Network's activities, go to: www.hpsnetwork.org .

Yes, I know these photos aren't very good - they're quite blurry actually - but there's a method to the madness. I wanted those in HPSland who sent in their photos and thank you quotes to see how they were used. This slide presentation was a back drop to a song thanking everyone for their help. It made a big emotional impact on the crowd. Thanks so much to all of you who shared your photos and sent thank you quotes.

I had to get a photo of this! It was just too funny. This is Carmen's son Christian. For those who can't see the image very well, on the t-shirt are ears of corn that are watching TV and they look very frightened. On the TV it says "Popcorn" and the T-shirt says under the picture, "Horror Movie."

After the Christmas concert, the band and stage helpers were invited back to the Appell house for a cast party. JoTina and her husband made the most wonderful pasta and there were lots of things to snack on and drink. We had a wonderful time. It was so great to get to hang out with all of these people who had just worked so hard on our behalf and get to know them a bit better.

After the concert Friday night guests were invited to the school cafeteria for treats and to see the crafts. Everyone seemed to have a great time chatting.

Our friends at iGive are having a membership push for the next 24 hours - until midnight central time tomorrow Dec. 17th. If you don't already belong to iGive, go to their site at the link below, join, and do a single search using their search engine. We get $1 for every person that does this, up to $5,000. Please copy and help get the word out! No purchase is necessary. It's a pretty easy fundraiser if we mobilize quickly and everyone follows through. We have another fundraising opportunity. For every new person that joins iGive with the link below and does a single search on their search engine, we'll get $1 up to $5,000. Please help us. No purchase is necessary. Please help us get the word out - we only have a short window. This letter exiplains how it works: Thanks for helping us! Hi Heather, We know that many causes have had a hard year, so we'd like to try something new tohelp Hermansky-Pudlak Syndrome Network that requires your participation, but is free and defi

After yesterday’s little meltdown, today I spent the morning feeling exhausted. I got up at 7:00 am and was at my desk by 8:00 am. By 10:00 am I was back in bed. I was so tired. Since last Thursday I’ve had a headache, but not like my usual sinus headaches. This one feel like it’s right at the back of my head, almost in my neck, at the base of my skull. Seems like a weird place to have a headache. Then my ear started to feel like it had water in it, so I thought it was maybe an ear infection. Anxious to avoid a trip to the doctor, I slept with a heating pad under my ear and sure enough, a bunch of clear fluid came out and my headache was better. Still, I’ve just felt draggy – perhaps under the weather, perhaps depressed – hard to tell. By 1:40 pm I woke up (thankfully) and was staring at the clock. I was seriously thinking about cancelling the appointment with the accountant. My joints hurt. I felt so sleepy, so tired and so foggy in the head. But the idea of having this unfinished bus

It’s been a stressful week. I’m very behind on HPS stuff because I’ve been too busy trying to sort out my personal business. Yesterday I got a letter from the state of Kansas telling me that my SSDI income (the only steady income I currently have) is too much and thus disqualifies me from the Medicaid program I’d hoped to get into for the disabled and the medically needy. How is that even possible? By the time I pay my rent, and my COBRA my SSDI check is gone. Forget about groceries, lights, heat etc. (Since I am not eligible for straight up Medicaid – I make more than $490 a month with is too much for a single adult in Kansas to qualify – keeping in mind that if I weren’t disabled, I wouldn’t even be allowed to apply) I am doing a little contract work, and it is starting to pick up – PTL – otherwise I wouldn’t be getting by. Still, when you consider that what I can earn is limited by Social Security – and that in addition to the COBRA I have to pay co-pays on 18 medications, ostomy s

The concert had a great immitation of Alvin and the Chipmunks. I was worried as whatever sound mechanism they were using to create the Chipmunk-sounding voices in rehersal wasn't working very well. At the concert, however, it worked beautifully.

Once again, I'm passing this along for those who might be interested. Gear Up for Greatness! National Federation of the Blind2010 Junior Science AcademyA STEM Program for Blind ChildrenAges 8-12Baltimore, Maryland, at the NFB Jernigan Institute 2010 Student Application 2010 Mentor Information and Application FAQ's about the program In 2008, the National Center for Blind Youth in Science (NCBYS), a program of the National Federation of the Blind Jernigan Institute, offered its first Science Academy program for elementary students. Once again, we are making this program possible for children in grades three through six. The NCBYS developed its Junior Science Academy (JSA) in 2004 in order to spark and enhance blind students’ interest in scientific study, an academic area that many falsely believe is too difficult for the blind. This year, with hands-on experiences, tactile materials, and innovative nonvisual teaching methods, the JSA will open its doors again to young explorers w

This is another peice of information I'm passing along. National Federation of the Blind 2010 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 2010 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. In addition to a scholarship, each winner will receive assistance to attend the 2010 National Federation of the Blind Annual Convention in July, providing an excellent opportunity

JoTina, who works in the HPS Network office, passed this along to me. It has nothing to do with HPS, but it's a good cause and easy to support. Land'O'Lakes is donating $1 towards hunger relief programs for every click on the button on their Web site. You only have to click once. It takes a second - you don't even have to fill out a form. http://www.landolakesinc.com/company/corporateresponsibility/foundation/

I'm just posting this as an FYI for anyone interested. Again, it came from the Genetic Alliance newsletter. Francis Collins to Present at National Press Club NIH Director Francis Collins will address the National Press Club on Monday, December 21 to present on the topic of "Biomedical Research: New Horizons for Human Health." Dr. Collins received the Presidential Medal of Freedom for leading the Human Genome Project to completion as director of the National Human Genome Research Institute (NHGRI). He subsequently organized many teams and projects that utilized the products of the international effort to not only elucidate the meaning of the raw data, but also transform the systems and paradigms associated with biomedical research. The National Press Club luncheon will begin at 12:30 pm Eastern and will be followed by a question-and-answer session. Learn more , including how to register for the event

I'm just posting this as an FYI. Of course, I'm a big advocate for NIH funding - big surprise there hugh. Right now, until the Senate and the committees between the House and the Senate get together, it's a little hard to know exactly where we are. At least it doesn't look like we're in for NIH cuts. That's a nice change. Don't get me wrong. We have to find a way as a country to reduce our spending - but a lot of that is about spending smarter. I think the NIH is a smart investment in America's future, as well as mine. This blurb came from the Genetic Alliance newsletter: FY2010 Appropriations On Tuesday, December 8, the House of Representatives approved the Fiscal Year (FY) 2010 Consolidated Appropriations bill by a vote of 221 to 202. The omnibus spending package is comprised of six spending bills totaling nearly $447 billion. The Labor, Health and Human Services, Education, and Related Agencies appropriations bill includes $31.0 billion for the NIH,

Jennifer, thanks for the sweet comment on the Christmas decorating post. I deleted it, but I didn't mean to. I've had a lot of spam comments and I got a little trigger happy with the delete key. Sorry!!!!

We really appreciate it when our NOAH friends can come out and support us. Here's Carol in the audience, one of our friends from NOAH.

I have these photos very out of order now, but this is the entire cast right before taking their bow. They all worked so hard for us!

I made the hard decision today not to lug up my Christmas tree from the basement with the accompanying lights, ornaments, wreathes and holly. I love Christmas. Although it isn’t exactly the reason for the season, I also thoroughly love Christmas decorating. For a single person, I probably go a bit overboard. I just love all of the holiday festive feel of the whole thing. I love the way the apartment looks when the tree is lit and all of my Christmas candles are glowing. This year, however, I won’t be home for Christmas. By the time I spent a week in New York helping with the Christmas concert, I decided the whole whopping week I’d actually enjoy the decorations being up just wasn’t worth the hours of putting up the tree, and the depressing task of taking it down again. I always find putting away the decorations at the end of the season depressing. The only decoration I got out was the manger arrangement. It is, after all, the reason for the holiday and the most important of the decorat

While doing some research for the conference, I found the following sources to help fund adaptive technology purchases. The first one I've posted here before - the others are new. I hope this is helpful to some. The Assistive Technology Fund (for Residents of the United States) The Association of Blind Citizens has established the Assistive Technology Fund. This fund will provide for 50% of the retail price of adaptive devices or software. The ABC board of directors believes that this program will allow blind and visually impaired individuals access to technology products that will have a significant impact on improving employment opportunities, increasing the level of independence and enhancing the recipients overall quality of life. Applicant must be legally blind and a resident of the United States to qualify for this program. Applicants may submit one request per calendar year. Applications must be submitted by June 30th, September 30th or December 31st for each grant period. A

Ashley sang a beautiful solo as part of the concert. I think I got part of it on my camera, although the sound quality on the camera isn't very good. Still - you can imagine how it sounded in person. Ashley has the voice of an angel.

I took photos from both performances and now they're all mixed up. No matter - here's a look at our stars!

I know these photos are blurry. It was really hard to get good photos in a place that was so dark and yet, so light - and where the lighting changed so quickly. Many of the photos of the concert didn't turn out well. But, even though these are blurry, I wanted to share them. These are just from one night - we had two concerts. All of these people came out to support us - to help us. I know sometimes having such a rare disease can make you feel forgotten sometimes. But these folks came out to offer support, both morally and financially - they listened about HPS and they responded. I wanted you to see them. Thanks to everyone that helped make this concert possible!

Now that our Pirfenidone trial has ended, those that were on active drug have been invited back to the NIH to undergo a lung lavage. I want to say thank you to all of the HPS'ers in the study who said yes and volunteered to take time away from their families, jobs and other commitments to go back to the NIH and undergo the lung lavage. We are hoping that our researchers will be able to learn more about whether Pirfenidone has any benefit from looking at the cells from the lungs of HPS'ers that were on active drug. Since I was on placebo, I couldn't volunteer. I am so grateful to the HPS'ers who accepted the call and are undergoing lung lavages for the benefit of all of us.

I know I've probably been rather irritating with all the fundraising pushes lately. It's fundraising season, what can I say. For a brief moment however, I want to share some prayer requests that remind me - and hopefully others - why we work so hard to raise this money and to work towards better treatments and someday a cure. Please keep our friend Chris F. in your prayers. He'll be going into the hospital next week for a bunch of tests. We all know how anxiety-ridden that experience can be. I, personally, find waiting for test results nerve wracking. Someone (believe it or not a nurse) once asked me what's the point of getting so nervous - you can't do anything about it anyway. It's a point of view I just can't wrap my head around. I put up a nice show - joke about NIH being Club Med etc. - but the truth is every time I go I'm nervous about results. What shoe is going to drop next? Will this be the visit where everything starts to change? I can't he

A big kudos to Matt. We have a new slide show on the opening page of the HPS Network Web site. It's a very good representation of the variation in the way people with the HPS type of albinism look. Check it out at www.hpsnetwork.org .