Living on the frontlines

CTV British Columbia - Family fundraises for cure to boy's rare blood disorder - CTV News Riley's family's efforts to raise money for Chediak-Higashi Syndrome made the TV news.

This video is from the album "A Very Merry Christmastime" by the band "J". All of the proceeds from the album go to benefit the Hermansky-Pudlak Syndrome Network. Please help us spread this video around the internet to increase awarenes of HPS. (Sorry for the small print. Blogger isn't cooperating.)

We all have those people on our list who are hard to buy for - or those occassions where it's tough to know what sort of gift to give. Why not help out the Hermansky-Pudlak Syndrome Network and buy one of those gifts at the same time? Check out our Celebrating Homes Fundraiser - a perfect place to buy an office exchange gift or a gift for a child's teacher! http://www.celebratinghome.com/fundraiser/hpsnetwork2011/OnlineFundraiserHome.aspx#.TpO8v75vvxl.facebook

This was in my e-mail this morning and I'm just passing it along. This new Website offers videos explaining how to do various things for the blind/visually impaired. Currently they've got a video up I want to go back and see when I'm not in a rush by a blind physician. Check it out if you think it might be useful to you. www.blindhow.com .

This has been a much better week health wise. I'm way overdo for my blood work and my flu shot. Naughty me! It seems the trouble I was  having last week and some of the week before was a tummy virus. It just took me longer to kick it than usual. This week my energy levels have been better. I've slept better than usual too. I haven't had any code browns until today (two so far). I hope that's it as finally the skin is looking really good! A few more, and I'll start having trouble again just from having to remove the pouch so often. I was, of course, not home this morning when I had the first code brown. I had liquid output, so it was a bad one, running down my leg and getting on my pants. Thankfully, I wasn't too far from home. It's cold today too, so I put my jacket around me and headed home as fast as I could walk. I don't think anyone noticed - fingers crossed.

Today we added two new HPS'ers to the patient registry. This puts us at 84 more HPS'ers to find in this year's Hundred People Search!

Last year we had the first-ever Chediak-Higashi Syndrome family conference. One of the families that came was Riley's family from Canada. Riley charmed everyone. You'd never guess watching him run around with so much energy just how much he'd already been through in his short life. Riley's family is making bracelets out of pop tops to try to raise money. This article appeared in the local paper. How awesome!!!! And, the photo is great!!!! Here's the article: Handmade bracelets help Riley Buying a bracelet in Fort Langley will help in the efforts to find a cure for an extremely rare blood disorder, that affects a young boy in Walnut Grove By Troy Landreville, Langley AdvanceOctober 27, 2011 Riley Tenhoeve, five, and his mom Selena sported bracelets being sold to raise money to find a cure for Chediak-Higashi Syndrome, a rare blood disorder that Riley was born with. Photograph by: Troy Landreville, Langley AdvanceFive-year-old Riley Tenhoeve is ...

I know it isn't Friday, but I've got so much on my mind right now that I'm afraid I'll forget. Today we added two new HPS'ers to the patient registry. That puts us at 86 HPS'ers to find on the Hundred People Search by March.

Chris Fenlon and Paul O’Donovan, from the HPS Network UK, attended a joint conference of the UK Haemophilia Centre Doctors Organization and the British Society for Heamostatis and Thrombosis, held Oct. 3-5, 2011 in Brighton. The HPS Network UK targeted this meeting, as the attendees were most likely to have patients with HPS. Fenlon and O’Donovan hoped that by exhibiting at the show, they’d create greater awareness of the HPS group based in the United Kingdom, as well as for HPS in general. “The show went very well,” says Fenlon, “Sometimes it takes a while for your efforts to bear fruit, but at this show, we already heard about results from some of the previous events. It might take a while, but it’s good to know that what you’re doing does make a difference.”

During HPS Outreach Week before the HPS Family Conference in Puerto Rico, the HPS outreach team visited Huertas Junior College and met with faculty. The college not only has several programs to assist students with disabilities, but it also has a program for students wishing to become counselors, or work in the rehabilitation services area. The team spoke not only about the basics of HPS, but also some of the social and economic challenges faced by those who have HPS that might be relevant to someone in a counseling role.

It’s been more ups and downs in my medical life as of late. Currently, I think the culprit is a stomach bug – at least I hope it’s that simple. I’ve had a few nights of throwing up, followed by days of extreme fatigue and joint pain, and an on-and-off fever of around 100. The strange thing is I have a day or two like this, then feel absolutely great for a day or two, and then it seems to come back. Today I feel great, so I’m hoping we’re finally rid of this bug for good this time! It’s also been a bad code brown stretch the last seven days. I’ve used a month’s worth of supplies and am worried Medicare will give me a hassle when I have to order more because I’ve gone through them so quickly. They are not likely to understand the implications of having a bleeding disorder coupled with an ostomy. Sometimes things just aren’t the same for me as they would be for another ostomy patient. The ulcers are actually much improved. Instead, it’s the surgical type area that’s the probl...

Just passing along this info: http://services.christianrecord.org/scholarships/index.php?fmt=GR&sid=nhf5ndqbqea4ocuskvugdcjor7 CRS - Scholarships Partial scholarships are offered to legally blind young people striving to obtain a college education. Scholarships are given on a limited basis to those who qualify. The amount Christian Record Services gives for scholarships varies from year to year. The actual amount given to each student is in proportion to the funds available. An applicant must meet two requirements before the application will be considered: •Applicant must be legally blind (20/200) with correction). •Applicant must be planning to attend college as a full-time student on the undergraduate level to secure training that will enable independence and self-support. If you or someone you know qualifies, please print, complete, and return the *application and *character reference forms. Applications for tuition scholarships are accepted bet...

When I reach out to other organizations for outreach programs, I often end up on their mailing lists. That means that this time of year I get a lot of information about scholarship opportunities. I pass on as much of it as I can. I know that families dealing with Hermansky-Pudlak Syndrome or Chediak-Higashi Syndrome face not only the usual obstacles to paying for college, but the added financial burdon of having someone in the family in need of medical care in a chronic matter. The Gates Millennium Scholars Program - taken from their materials: For students entering college for the first time in the fall 2012, the GMS 2012 Scholarship Application online process is now open. The deadline for all submissions is Wednesday, January 11, 2012 at 11:59 p.m. EST. GMS will select 1,000 talented students each year to receive a good-through-graduation scholarship to use at any college or university of their choice. We provide Gates Millennium Scholars with personal and professional deve...

This coming weekend is going to be a big one in HPSland. Everyone’s prayers and good thoughts would be much appreciated. We have a large fundraiser this weekend at the OysterFest in Oyster Bay. A team of volunteers will be serving up goodies in the food court for a crowd of more than 100,000. We’re hoping for beautiful weather and lots and lots of business. Another HPS team will be joining with a team from NOAH at the American Academy of Pediatrics. They will be making pediatricians aware of albinism, NOAH’s info for new parents, and the importance of awareness/screening for HPS. NOAH also has info on their handout about Chediak-Higashi Syndrome. Good luck to both teams!!! I wish I could be with all of you!

The Hispanic Scholarship Fund awards a number of scholarships every year! They are accepting scholarship applications Sept. 1 – Dec. 15 th . There are opportunities for everyone from high school seniors to graduate students. Check it out at: https://apply.hsf.net/applications/ (Sorry for the small print - something's wonky with the larger font again.)

This is a press release from our friends at the Pulmonary Fibrosis Foundation. It's too early to say what impact this potential therapy might have for those with Hermansky-Pudlak Syndrome. Still, pulmonary fibrosis research in general is likely to yeild valuable clues, just as research on Hermansky-Pudlak Syndrome could yeild valuable clues for the general pulmonary fibrosis community. I still, however, cringe at the term "IPF" as though that's a uniform disease it's self, separate from those of us who left the "I" behind a long while ago. The "I" means "Idiopathic" - and all that means is "unknown." For all they know, there are more than likely multiple causes and disease pathways at work, but they are just as of yet not understood. Call it a pet peeve I guess. Pulmonary Fibrosis Foundation to Fund Further Therapeutic Evaluation Studies for Compugen-Discovered Drug Candidate Potential use of CGEN-25009 for treatment o...

Today is Thursday and I feel the best I’ve felt all week. This week I’ve really battled the fatigue. I feel like I could sleep all the time and am fighting to stay awake. Tuesday night I went to bed early for me, around 10:00 pm, slept with the CPAP all night, and didn’t even stir until 11:00 am the next morning. My arms and legs feel like someone has put weights on them, so every little thing feels as though it requires more effort. I’ve been putting in long hours for the HPS Network. We have so many exciting things going on, so I thought maybe I just needed a day off. I planned not to work yesterday and instead focus on my laundry, housework etc. All I managed to do was sleep and watch a little TV. I don’t remember much of what I watched though because I kept falling asleep!

I'm passing along this press release because I thought some readers might be interested. A big bravo and congrads to this group of future teachers of the visually impaired. It means a lot that they are interested in not just learning the mechanics of being blind or visually impaired, but also the "real life" stuff too! FOR IMMEDIATE RELEASE CONTACT: Chris Danielsen Director of Public Relations National Federation of the Blind (410) 659-9314, extension 2330 (410) 262-1281 (Cell) cdanielsen@nfb.org National Federation of the Blind Announces Second Teacher of Tomorrow Class Program Offers Teachers of Blind Students Opportunity to Learn about Blindness from Blind People Baltimore, Maryland (October 13, 2011): The National Federation of the Blind (NFB), the oldest and largest organization of blind people, today announced the 2011 class for its NFB Teacher of Tomorrow program. This program provides participants an opportunity to enhance their e...

I happened to see this story and thought, wow! What technology can do! This student developed a touch screen braille writer for use on an android tablet. Of course, there's still a long way to go to get this to market, and to improve accessability on tablets in general - but it's interesting none the less. Check out the article at: http://www.wired.com/gadgetlab/2011/10/touchscreen-braille-writer/

The week has barely started and I’m already exhausted. My sinuses have been acting up, and thus the pressure from my CPAP is giving me killer headaches. So, last night I think I only went two hours with CPAP therapy. I’m sure this is partly why I feel so tired today. Yesterday I also had a code brown. Luckily, I was at home, and it only took once to fix. Still, it’s annoying. I can’t figure out why I had the trouble this time either. The skin actually looks the best it has looked for weeks. My goals for the day started out so important and big. Now, my goal is to stay awake until at least 10:00 pm so my sleep patterns don’t get all out of whack again. Productivity would be a bonus.

 It's Blanca and Diana!  Kids of HPS'ers - Christian and Holly!  Christian and his brother Gabe  Brenda, with her husband and son  It's Alyssa - an avid HPS fundraiser, hanging out with Christian and Holly!  Yeidy and Mike from the UK!

 Guess who's painting?  It's Karen's sister! And look...here's Matt's dad and Karen's dad - two HPS dads together!

This is a press release I thought would interest some readers: FOR IMMEDIATE RELEASE CONTACT: Chris Danielsen Director of Public Relations National Federation of the Blind (410) 659-9314, extension 2330 (410) 262-1281 (Cell) cdanielsen@nfb.org Governor David Paterson Urges Immediate Passage of Fair Wages for Workers with Disabilities Act New York City, New York (October 10, 2011): David A. Paterson, 55th governor of the state of New York and a member of and consultant to the National Federation of the Blind, today urged immediate passage of the Fair Wages for Workers with Disabilities Act (H.R. 3086), which was introduced in the United States House of Representatives last week. Governor Paterson said: "It is long past time for the anachronistic provision of the Fair Labor Standards Act that allows workers with disabilities to be paid less than the federal minimum wage to be phased out. As Samuel R. Bagenstos, former principal deputy assista...

This week we added two new HPS'ers to the patient registry. This means we've got 86 left to find on this year's Hundred People Search. Keep up all the outreach gang. Encourage anyone you know with HPS to register with the HPS Network. We need them to prove that we're out here to the researchers!

It's a black cape affair - a night of fun, food and fellowship! Spend your Halloween helping those with the HPS or CHS types of albinism. You MUST make a reservation, the sooner the better. E-mail Fran Moore at: fgomoore@verizon.net . The event poster is below:

Supporters of the HPS Network can now purchase Christmas music on iTunes and financially help the Hermansky-Pudlak Syndrome Network at the same time. The band “J” has just released their second Christmas album to benefit the HPS Network called “A Very Merry Christmastime.” Several years ago they recorded the album “Another Christmas,” the profits of which went to help the HPS Network in its mission. Anyone interested in purchasing either album through iTunes should look for the albums by name. They make great gifts! “Another Christmas” is also for sale as a CD in the HPS Network store – http://www.hpsnetwork.org/en/store/another-christmas. “A Very Merry Christmastime” will soon be added to the HPS store.

Celebrating Homes has joined with the Hermansky-Pudlak Syndrome Network to raise money. Between now and Nov. 30th, anyone wishing to do a little holiday shopping and help the HPS Network can go to: http://www.celebratinghome.com/fundraiser/hpsnetwork2011/OnlineFundraiserHome.aspx Items for sale range in price from $10 to $18. Some items for sale include pumpkin cheesecake mix, candles, holiday wrapping paper and children’s’ items.

I hope readers don’t find this post morbid. I certainly don’t intend it to be. I intend it to be practical. A few days ago I was listening to a radio program and heard mention of a company called “Legacy Locker.” The idea is that if something were to happen to us, so much of our lives are online, yet our loved ones seem to have no standing to reclaim our online existence. This company offers a service that, in the event of your demise, they will send your passwords and online info to designated loved ones. I must admit, it’s something I’ve thought about. Yet, to me, there’s even a broader context here. How do you “preserve” a blog, or e-mails or such? For centuries historians have relied upon the written record for an eye witness account of a historical period, or even just a flavor of the times. What will future historians do now that most of us seldom send snail-mail letters or keep paper journals? I don’t mean to say that I’m offering any content so profound that it’s...