Living on the frontlines

Photo by Joe Sipe

I can't believe it's almost time to go back to NIH - boy how the time flies by! This week I've had a few issues. Wednesday was pretty much a useless day. I had the runs all day and couldn't leave the house for fear of getting too far from the toilet. Tuesday I felt great, but Wednesday I could hardly stay awake! Then, this afternoon I went to the grocery store to send a fax to my attorney. I went to the bathroom and the toilet bowel was full of red. I panicked, but then remembered I'd drank some juice that morning that was red. It's a type of juice I drink all the time but have never noticed that happening before! But, I don't pay much attention to the brand. I buy whatever is cheapest, so maybe what I bought had more dye in it than real juice. Won't buy that brand again! For years back in the day the docs would ask me if there was blood in my stool, and like a moron, I'd answer no. I didn't even think about the fact that I probably wouldn't ...

I think this is becoming my theme song whether I like it or not. - No social security check for May.

This is a public service announcement from the Coalition for Pulmonary Fibrosis. As regular readers know, many of us with Hermansky-Pudlak Syndrome develop pulmonary fibrosis. I have pulmonary fibrosis but am very lucky to be in a clinical trial right now.

Here are some little crafty items I did just for grins. I do intend to do more paintings for the HPS Network craft bank - but honestly - sometimes I'm just not in the mood. I'm tired and I just want to do something simple. After Christmas last year I cleaned up at the Michaels sale. I made six of the Santa pins. They're essentially made with a cotton ball and a little bead for the head. They were supposed to be ornaments, but they're so little who would see them on a tree? I thought they'd make cute pins - so I put a pin back on them. The "snow" sign is essentially a wood cut out I painted white, and then applied white sparkly stuff to the front. It's meant to hang in a window or on a door. And the little bow shelf - well, all I did was paint it red. More items to come - these are going into a box to be sent to the Network, but I'm not sending it until it's full.

For the second year in a row, the Springfield Falcons in Springfield, Mass have come to the aid of the HPS Network. For two of their games, they donated $2.00 for every ticket sold by a representative of the HPS Network. And, four adult league teams held special exhibition games before the Falcons game to help raise awareness of HPS in the community. Way to go Falcons, and way to go McGillicuddy family (organizers of this fundraiser.) Check out the HPS Web site in the next few days to read more about the event. http://www.hpsnetwork.org .

Over the last few days I've been getting to know Marla Palmer from Utah. She keeps a blog for the Utah chapter of the National Organization for Parents of Blind Children and she has two children with albinism. Her kids are learning Braille. Her blog had some really cool links to Braille resources for anyone trying to get started learning the code. I'll add more of them when I've got time, but there's one that does online Braille flashcards. Of course, that's visual, but that's not all bad. I'm learning to read Braille with my fingers, but I am a visual learner. Sometimes for my memory it's helpful to see the contraction so I know what I'm supposed to be looking for with my fingers. More new links to come (and I need to update some of the old ones.)

Here's an update on the three-to-one matching challenge. We're only $50 away from reaching the $500 goal for this matching grant. WooHoo!!!!

Below is a story my sister-in-law sent. Thought some of you would find it interesting. Tanzania bishop calls for protection for albinos Sunday, 26th April 2009. 11:43am By: George Conger. The Anglican Church of Tanzania has joined the battle against the discrimination and abuse of albinos. In his Easter Sunday sermon, Bishop Phillip Baji of Tanga denounced the killings of an estimated 45 albinos since mid 2007, saying the murders dishonored God and disgraced the nation. The church called for the government to crack down on traditional healers or witchdoctors who trafficked in albino body parts. In February UN Secretary General Ban Ki-moon urged Tanzanian President Jakaya Kikwete to address the issue, saying the killings were a “gross violation of human rights.” Read the rest of the story: http://www.religiousintelligence.co.uk/news/?NewsID=4316

Some months ago I noticed a new thing on the bar on the right side of the blog. I noticed that some of you have signed up as "followers." While flattered, I've been trying to figure out how that happened. When I figured that out, I then couldn't seem to figure out how to follow anyone else's blog. What do you know but there's a button on the top,. right next to the button for ratting out inappropriate blogs, to "follow" a blog. Okay, so I'm a little slow. Thanks to those of you who are "following" the blog. I know I've got some regulars, but it's always nice to know there are actually real people out there! HA!

I was so looking forward to attending The Mouse Project fundraiser, but alas, mother nature conspired against me and last night I actually slept in my own bed. My flight out of Kansas City was delayed because of severe weather. We sat in the plane for an hour before takeoff. By the time we arrived in Chicago I had seven minutes to make the flight connection. Knowing it would be tight, I asked the flight attendant if there was anyone else on the flight making the same connection and if so, if he’d mind asking them if I could follow them to the next flight. Sure enough, there were several of us headed for Fort Wayne. We ran through the Chicago airport and made it to the gate (in another terminal) two minutes after the door was closed. What irritated me was that the plane to Fort Wayne had 20 seats maybe, and six of us were coming from this Kansas City flight. You would think that knowing we were on the ground and coming, United would have held the flight. So, my newfound friends and I we...

This is the video the Tillmans created to share at The Mouse Project Fundraiser.

Boo-hoo I wasn't there! Here are some of our Washington local HPS'ers who got to have dinner with Sandy, Ashley and Donna on Tuesday night at the Cheesecake Factory! Sandy has never been to an HPS conference, so many of us have never gotten to meet her in person. She's the second one next to Julie. Sandy also spent some time with Kathryn in Roanoake and there's some nice pics of them on Kathryn's blog too.

I put the word out about this some time ago on the blog - the DNA Day Essay Contest. If you'd like to see some of the winners this year, check out: http://www.facebook.com/ext/share.php?sid=76651413195&h=OFidY&u=O2Zd0&ref=mf To all the high school students out there - get ready for next year!

And here's the runner up from the Facebook contest. Great job! Drum roll..............The 1st runner-up for our DNA Model Photo Contest is.......Paula K Nance and her sophomore Biology class students.... We'll be contacting you Paula, to arrange for a small prize because we were so impressed with your submission given that it's Earth Week. Well done and congratulations.

I just logged onto Facebook and saw the following.....congrads to the winners!!! National DNA Day This year's WINNERS of the DNA Model Photo Contest are.......Angie and Peggi from the American Society of Human Genetics for their entry:"Fortune Cookie DNA Helix - Crack the codes of DNA and read your fortune.Submitted by ASHG staff Angie and Peggi. Idea by Karen. Thanks for your help, Mike, Jo and Ray."Congratulations, Angie and Peggi. We'll contact you soon to arrange for delivery of two NHGRI 19 oz. mugs.

Since I'm such a night owl, I just looked at the clock and guess what - DNA Day is here! A big kudos to all the hard working scientists and doctors out there that have spent their lives figuring out our DNA - they give us hope for the future and there's no better medicine than that! And here's my favorite helix pic from the Facebook contest - although since the photos seem to be missing I can't find the credit. I liked this one best because of the clever symbolism - unlock your DNA and unlock your future - sort of like a fortune cookie. The only difference is people like me hope that by unlocking our DNA, we'll figure out a way to change those fortunes.

This is a pic of our famous Carmen M. with her son. Boy has he grown up fast - and he's turned out to be such a nice looking young man. Photo by Frankie the Cat

This is Joe Sipe, Crystal and Candice's dad. Every year he's such a huge help with the conference. He and Matt are the go-to guys for audio/visual - and frankly they're way better than the audio/visual guys I've dealt with at the hotel. They keep the weekend moving smoothly! And, Joe Sipe takes great pics! I so much appreciate him sharing them with us all!!!!

Photo by Frankie the Cat

This is just a reminder to all the friends of the HPS Network out there - the three-to-one challenge continues. A donor, who wished to remain unnamed, issued a challenge. For every dollar made in a personal donation, they'd match it three-to-one up to the first $500 raised. We've raised $350 of that so far, and we're sort of stalled out. Donate $10 to the Network now, and it will become $30!

I need to post a health update. Just a warning to anyone squemish out there. This week hasn't been a good HPS week. I guess I can't complain because I had been doing much better. Code browns were down in frequency, energy levels were up (even if my sleep patterns are wacky and my high energy time is in the middle of the night.) I've been quite busy working on HPS-related projects. And then bam - the brick wall hit this week. I started my period. I must say, these are WAY better since I got the Murina, but they haven't left. I still have at least one heavy day (better than three or four). I sort of crack up with Dr. Meredeth susggest one should seek medical attention if you go through more than a pad an hour for more than eight hours. I've done that every month for years! And that was yesterday - went through half a large pack of the ultra thick pads in 24 hours. The other trouble with that time of the month is that I get the runs badly. It was as if someone turned a...

Here the twins pose for a pic with Dr. Meyer, Janet's doctor from Wisconsin. We were so pleased he was able to join us this year. Photo by Joe Sipe

I was looking at the scientists that will be staffing the live DNA Day chatroom tomorrow, and what do you know, but our own Dr. Markello is in the first round. He'll be on from 8:00 am to 9:00 am eastern time.

Here's another one I pulled from the National DNA Day Facebook page - but it's missing too. I'd love to know how they folded the paper to get this to work. It would make a great class project to learn about DNA. I'm saving my favorite one for tomorrow. (Although I love all of these!)

Here's a picture of chromosomes I pulled from the National DNA Day Facebook page - although it seems to be gone now. I was going back and cutting and pasting the credits - so if this is yours, just speak up. Very cool.

Did they plan it? I doubt it, but it looks like they did. This is Candice and Crystal posing for a pic with Ryan and Sara and Marisol.

Photo by Joe Sipe

Here's another photo from the photo contest on National DNA Day's Facebook page. I don't know who to give credit to except that with the photo it says, "Upload your pic for our DNA model contest and win an NHGRI mug. Here's our ode to Ramen helix...." - so maybe it was NIH staffers? At any rate, I love it.

This came up on my google search. I thought you all would find it interesting.

I am very excited about this weekend. This weekend I'm going to Fort Wayne as the HPS Network's representative at The Mouse Project fundraiser. The Molter family has raised more money for HPS than any other donor. It's this funding that made the grant for Dr. Young possible. I feel such a personal debt of thanks to the Molters, and to everyone in Fort Wayne that helps with this fundraiser, that I'm very excited to get to meet then in person! Here's the press release that was just issued a few hours ago about this weekend. The Mouse Project Annual FundraiserArticles / dBNews Indianapolis Date: Tuesday, April 21, 2009 08:20:55 Fort Wayne, IN - The fifth annual Mouse Project Fundraiser, a benefit for Hermansky-Pudlak Syndrome or HPS will be held at Sweetwater Sound on April 25th from 7 to 11 PM. This year’s special evening of fun with friends is being held to help ensure Julia and Tommy, and other children and adults with HPS, can follow their dreams. Tickets are jus...

I continue to try to learn Braille. My friend brought me some more books to read, as I'd mentioned a few days ago. Now I've polished off "Thomas and the Naughty Deisel" and I'm onto "Curious George Goes to the Hospital." Gee, wonder why she picked that book for me? I was laughing pretty good last night as I got to the part of the book where poor George, who has swallowed a puzzle peice, has to drink barium. They tell him it's a "sweet tasting drink." I got news for you monkey - they're lying to you! Sweet tasting liquid. Pepsi is a sweet tasting liquid. Barium tastes like chalk! I'm also reading "Julian and the Secret Agent" - but to be honest, it's the book in grade II Braille and I'm not getting enough of it to figure out the story. But, every day is better as I learn more contractions. Sometimes I even understand a whole couple of sentences in a row! So, my method is to start with Julian until I can't take f...

Here are the Sipe twins posing for a pic with Dr. Lisa Young at the HPS Family Conference. Yes, I still have conference pics and some other HPS'ers have told me more picture CDs are in the mail - boy are you all going to be sick of these pics! Grin! I just love them. It's like a family album. I plan to do a profile of Dr. Young in an upcoming issue of the newsletter. She is the researcher that won the grant we did with the American Thoracic Society. Thanks to that funding (go Fort Wayne), she was able to get a $700,000 grant from the NIH to continue her work. We're so lucky to have her!

I found this photo on Facebook on the National DNA Day event page. I guess the National Society of Human Genetics has a contest and these were some of the submissions? It's a little unclear. But, they give credit for this image to ""PEEP-NA" by Courtney Beers, Jan Chalupny, Heather Douangpanya, and Kathy Schaeffer." All I can say, is way to go! This cracked me up! I found a few other really cool images, but hey, got to give you a reason to either keep coming back, or sign up for the National DNA Day page on Facebook. Grin!

This article is from the NIH's Web site. It's a great excuse for us to do some outreach - after all, where would we be were it not for people who study genetics? What Are You Doing for National DNA Day? When many people think of April, they think of spring. But others think of DNA. As the seventh annual National DNA Day approaches, the National Human Genome Research Institute (NHGRI), along with students, teachers, researchers and health professionals across the country, are gearing up to celebrate the key molecule of life. National DNA Day is usually observed on April 25, but this year NHGRI will hold most of its activities on Friday, April 24 to accommodate classroom schedules. Building upon the popularity of the online chatroom and ambassador programs, NHGRI and its DNA Day partners this year have expanded their outreach efforts even further by creating National DNA Day social networking pages on Facebook and Twitter. Established by Congress seven years ago, National DNA Day...

Bravo Angels in Voice!!!!

Senator Lucy Arce Ferrer, a Senator-at-Large in the Senate in Puerto Rico, presented Donna Appell, President of the HPS Network with a resolution, passed by the Puerto Rican Senate, honoring the 16th Annual Conference of the HPS Network and thanking the Network for its advocacy on behalf of patients from Puerto Rico. Sen. Arce was an honored guest at the Network and expressed her interest and willingness to help advocate for patients with Hermansky-Pudlak Syndrome. She attended the conference sessions and showed great interest in the work of the Network. In Puerto Rico, the senator is well known for her work on health care policy. For more information about the HPS Network, visit: http://www.hpsnetwork.org/ .

Donna Appell, Founder and President of the Hermansky-Pudlak Syndrome Network, was appointed to the International Lung Health Committee of the American Thoracic Society (ATS) for the 2009-2010 year. The appointment was made by Dr. Randall Curtis, MD and president-elect of the ATS. The International Lung Health Committee develops strategies to promote the global mission of the ATS to improve the health of patients worldwide with pulmonary and sleep-related conditions and critical illnesses. It recommends to the Board policies, guidelines, and programs that promote lung health worldwide. To read the complete story, go to: http://www.hpsnetwork.org/ .

I just wanted to post a quick shout out to the DelVecchio clan. They held their annual HPS garage sale this weekend and raised more than $780 for the HPS Network - most of it in 25-to-50 cent sales! I've got to hand it to the DelVecchio family. Not only do they organize this garage sale, but they take items for sale from neighbors and friends all year - and all that, ummm....I think the polite word is stuff......has to be stored somewhere. Their garage and attic and every nook and cranny Marie can find is loaded down by the time the sale rolls around. I wish I lived closer. I've got some garage sale items, but it's hard to have a garage sale when you live in an apartment and don't even have a parking shed, let alone a garage. Grin!

Way to go Ashley

And more from the Tillmans - Yahooo!

More from the video masters - Tommy and Karen!

Thank You Tillmans!

The gal in red is Carmen M. I remember the first time I saw her dancing - she was on oxygen and about passed out because it was getting in her way and she took it off. It's so good to see her enjoying the dance oxygen free! Photo by Frankie the Cat.

I'm sorry, I forgot to tag this photo - I'm not sure if it's by Tommy or Joe Sipe.....I know I didn't take it. Sorry guys! But, I love the pic! It's one of those photos that makes the point for physicians that you can't identify patients with albinism because they're blonde! We all aren't blondes - whether our darker hair is by nature or the bottle.

We have one new HPS'er added to the registry this week. That puts us at 94 for this year's Hundred People Search outreach challenge! Way to go!

The deadline for this opportunity isn't too far off, but I only saw it today. For any undergraduates with albinism who can pull this together quickly, it's a great opportunity! Go for it! From the NOAH Now e-newsletter: McGowan Leadership Scholarship Application Deadline Friday May 1st Applications for NOAH’s fi rst ever scholarship, the Michael J. McGowan Leadership Scholarship Award are due by Friday May 1st. The Michael J. McGowan Leadership Scholarship Award was established in 2008 in an effort on behalf of NOAH to recognize leadership and empower young people with albinism. NOAH will award one $5,000 scholarship in 2009 to a student with albinism enrolled in an undergraduate program at an institution of higher education. This award will not only aim to enhance educational opportunities for students with albinism but will also celebrate outstanding leadership qualities similar to those exhibited by NOAH’s dedicated current and past leaders. Complete details and application ...

Now that we're going to Digestive Disease Week, it's a shame that we don't have the budget for my sponsorship idea. I always thought we should buy a sponsorship at this trade show. We could sponsor the toilet paper in the convention center bathrooms and have printed on the rolls - Get the poop on HPS, visit booth # x . Ahh--I bet it would get attention. Alas, it would cost several thousand likely, and we're doing good to afford the booth its self.

This is another cool photo my mom sent. I have no idea where it came from - but boy can I think of a lot of captions for it - maybe you all should have a try!

We were trying to find the best time to give our little gifts to the regular Network office volunteers. They are so great!!!! Photo by Joe Sipe

Photo by Joe Sipe

This is a photo I took near Letty's apartment in Manhattan. Sometime when I'm in New Ork I want to spend a day just roaming around taking photos. New York has it's own color palette of subtle colors, but I was amazed that on every other corner there was a little store selling fruit or flowers and the colors just popped out at you. That's why I took the pic.

I spoke with Ryan the other day on the phone. Ryan is going to make such a great dad someday. He was telling this story about his nephews that has made me smile several times thinking about it. They've moved to a new house. They're very into Oscar the Grouch. There was a trashcan in the back yard of the new house that looked just like the one Oscar lives in. The little boys came running into the house yelling, "Uncle Ryan, Uncle Ryan, guess what? Oscar the Grouch lives in OUR back yard!"

Months ago one of the HPS families set up a cause page for HPS at www.iwon.com . This is an online game site - a.k.a reason to bring traffic to a site to sell ads. At any rate, every time you play one of the free games at the site you earn coins. You can spend the coins to buy chances to win different things - but the coins also get recorded for your charity team - if you've joined one. They give $10,000 away each month to the top charity - and they have some runner up prizes for the charities too. If you like playing games online, join our team.

Photo by Joe Sipe

Photo by Joe Sipe

I finished my first braille book for this go around at braille - actually, I read it four times. It was called The Tiny Family and was all in grade one braille, a nice refresher. I still remember my alphabet pretty well, but have forgotten so many contractions. So, I have another book I'm working on that's in grade II. I review a few contractions every day and then just force myself to slog through the book in grade II braille. It's like working out a secret code or puzzle. Some of the contractions will come back to me, and others I'll figure out from context - and then others I'll just be completely stumped on and only half a sentence makes sense until the next day when one of the mystery contractions is in the bunch I'm reviewing and is a whole new part of the puzzle. Today my friend Echo brought me some more books - and some more in grade one braille too. My next little book - Thomas and the Naughty Deisel . My mind must really be in the gutter because the f...

I have no idea where this lounge is, or where this photo was taken, or even who to give the credit to - my mom sends me these e-mails with these cool photos in them occassionally, and this was one of those. It's not that I don't have sympathy for how difficult it must be to quit. I do, however, want to spit nails every time someone makes the arguement that it's their right to smoke because they're not bothering anyone. When I think of all the costs involved with smoking-related illnesses - and the trouble we have getting funding for lung research because lung disease is percieved by so many as being "our fault" - I do tend to get a little hot under the collar. Come on - call a spade a spade - all of our bad habits, my chocolate habit included, cost the greater society. And no, I'm not opposed to the twinkie tax either. Perhaps it would help me stick to my diet.

Here Dr. Markello give us an update on his research. I hope he's around the week I'm at NIH - I want to pick his brain.

As some of you know, I’ve been working on a painting for the Molter’s fundraiser. They have a silent auction at the event, and I thought perhaps I could make a contribution. Last night disaster struck. Somehow I tipped over the glass of dirty water I’d been using to shake out the brushes and it went all over my painting, and onto the carpet. I was quick with the stain remover and think I managed to save the carpet – although it’s in such horrible shape that it wouldn’t be any great loss. The painting, on the other hand, is goner. It wasn’t going well anyway. I think this is God’s way of telling me it was okay to scrap it. Trouble is I only have 10 days until the Molter fundraiser and I don’t think I’ll have enough time to finish anything by then. I’ve got too much else to do with the newsletter and making contacts in Chicago. Oh well.

The HPS Network will be in the Chicago area twice in May! We will be speaking at the NOAH Mini Conference on albinism at the Chicago Lighthouse on May 9th, and then making the rounds to a number of hospitals. clinics and agencies serving the blind. If any of my readers have connections in Chicago, we'd surely appreciate them. I'm looking for media coverage and connections in the medical community. Thanks!!! And, stay tuned for more updates on the Chicago outreach!

Photo by Joe Sipe

Photo by Joe Sipe

Here Frankie the Cat captures his own kids in a playful mood! Love the pic.

Photo by Joe Sipe

Here I am with Janet and Dr. Meyer, Janet's doctor. We are doing a session about lung transplants in an interview style. Photo by Joe Sipe

Today I officially benefited from the economic stimulus package. My HR person at my old company told me that indeed I am eligible for help with my COBRA payments – the government will pay for 65% of my COBRA. The other good news is it turns out my COBRA was cheaper than we had thought, so I’d overpaid some. This is a huge relief when it comes to May. It means I owe about $400 less than I thought I would that month. Of course, I’m not exactly running out to do my bit for the economy yet. I’m still in survival mode – but this is a big help. One day when at least some of my economic chaos is under control, I expect I’ll be contributing to the economy. I haven’t been paid a full salary since October and have had no income since January. Needless to say I have a lot of things I’ve put off buying, and some of those items you can only put off so long. I need, for example, new pants. I haven’t had a new pair in a year. When you have a code brown, even if you get to it quickly and the stain is ...

Photo by Joe Sipe

Photo by Joe Sipe

Candice and Crystal sang for us several times at conference. They recently had a great fundraiser concert in their area in Phoenix! More to come on that as I get caught up. Photo by Joe Sipe

Photo by Joe Sipe

There’s been a raging online debate going on among some of the online communities for people with albinism about whether children with albinism should be taught Braille. I do hope to blog about that topic later – I just don’t have the energy for it now. I will say that I very much wish I’d had the opportunity as a child. I wasn’t introduced to Braille until adulthood. I learned both grades 1 and 2 Braille in about six weeks at the Louisiana Center for the Blind. Learning the code is the easy part though. It’s building the speed that takes time and can be done through nothing but sheer practice. I did use Braille my freshman year of college, but then got sick. At the time I didn’t know I had HPS – only that I was constantly sick and very fatigued. Because my speed wasn’t quite up to my print speed, I abandoned it. Had I been able to keep it up just a few months more I think I would have nailed it down. Later in college I took Braille lessons again. The problem was I knew the code. I did...

I had another talk with the insurance company. It seems that yes, they do have all the records that I thought they had. The only ones now missing are those from the NIH. My friends at the NIH have done all they can to try to speed up that process, but it’s bureaucratic and there’s a limit to what they can do. We just have to wait. For those who suggested I take some legal action, I haven’t ruled it out, but it’s hard to appeal a decision that hasn’t even yet been made. I have this horrible gut feeling that the company will deny my claim. They keep mentioning, “If this is not a pre-existing condition……” The fact is they issued the policy. It was an employee benefit. GINA says that they can’t hold my genetic pre-disposition to have these health issues against me, but GINA is a new law, and laws are only useful when you bring a claim to the court system. I’d rather avoid that whole nasty mess. In the short run, I think I just have to assume I’ll never see a penny from them. Ironic isn’t i...

Photo by Joe Sipe This is a session where we have a panel of HPS'ers share stories about living with HPS. This year the panel was Crystal and Candice Sipe, Matt, Lisa, and Karen Tillman.

Photo by Joe Sipe

The one thing that has bugged me in this process of applying for disability is the idea of being fenced in. I don't like the idea of taking government money, even if I have paid into it and need it, and then essentially being stuck. I want to always be free to strive to my greatest potential - whatever that might be. In the end I don't know how much extra work I might be able to pick up when I get SSDI - my health can be unpredictable and that could impact things. But I don't like being forced to choose between doing my utmost best and surviving. Below is a change to the social security law being proposed by the National Federation of the Blind right now in Congress. It makes sense to me! And, I'd think in an age of precious resources, it would make the best sense for government too. I was so thrilled when I saw it! Here it is: Removing the Earnings Penalty: A Common Sense Work Incentive for Blind Social Security Beneficiaries Purpose: To promote and facilitate the tran...

Here's Letty at the nail salon.