Living on the frontlines

Christina McGillicuddy, 9, saw an opportunity when her grandparents recently held a yard sale in Longmeadow, Mass. She held a bake sale at the event and raised more than $80 for the HPS Network. Christina’s mom helped bake a selection of cookies, breads, muffins and brownies – all priced between 50 cents and a dollar. The day of the sale Christina ran the bake sale and sold the items herself. She educated every customer about HPS and sent them home not only with something good to eat, but an HPS brochure to learn more about the people they’d just helped with their purchase. Way to go Christina!!!!

This week we added one new person to the HPS registry. That puts us at 33 to go on the Hundred People Search challenge! Way to outreach! Thanks to everyone in the HPS community and the albinism community that's helping out.

This was mentioned in the National Organization of Rare Disorders newsletter. Just thought I'd share it if anyone's interested. Online Talking Glossary of Genetic Terms The National Human Genome Research Institute has launched the next generation of its online Talking Glossary of Genetic Terms. The glossary "talks" because users can actually hear an audio pronunciation of each term, and also listen to an audio explanation from scientists who provide context and other supplementary information. The updated glossary gives students, teachers and the public a reliable online resource for more than 200 terms and basic concepts behind today's breakthroughs in genetics and genomics. The glossary is available at www.genome.gov/glossary .

Albinos under Burundi police protection welcome Napoleon (age 1 week) 28 Oct 2009 09:18:00 GMT 28 Oct 2009 09:18:00 GMT ## for search indexer, do not remove --> Source: International Federation of Red Cross and Red Crescent Societies (IFRC) - Switzerland By Alexis Manirakiza in Ruyigi, Burundi Website: http://www.ifrc.org Reuters and AlertNet are not responsible for the content of this article or for any external internet sites. The views expressed are the author's alone. The picture shows Napoleon Ahishakiye, an albino baby born on Thursday 15 October 2009 and as far as anyone knows the first albino birth in a shelter, with his 18-year-old albino mother, Emelyne Banteyineza. (Photo: Alex Wynter/IFRC) (p-BDI003) Napoleon Ahishakiye, a healthy boy, was born on Thursday 15 October 2009 - as far as anyone knows the first albino birth in one of the shelters still scattered around the eastern Burundian province of Ruyigi, near the border with Tanzania. After the occult-based killings

Tomorrow and Saturday the DelVecchio family will be holding their annual garage sale to benefit HPS. This sale has become quite the event in their neighborhood. People donate items for sale all year, and the DelVecchios manage somehow to store them in every nick and cranny they can find - from the garage to the attic. Say some prayers that the weather is nice, and the customers aren't too stingy. Grin!

I know many blog readers are following these issues. Below is a summary sent out by the American Thoracic Society to their members. There are a lot of things in the House bill I like - some things I don't like - and it's all my opinion and not necessarily the Network's. But, I'll have to blog about all that later. As you noticed, I've been somewhat absent from the blogosphere, and boy do I have a LOT of catching up to do! House Leadership Releases Merged Healthcare Reform Bill Yesterday, the House released a healthcare reform bill that merges the bill passed by the three House committees of jurisdiction (Education & Labor, Energy & Commerce, Ways & Means). The legislation is expected to be considered by the full House next week. Major provisions of the bill include:Coverage:• Expansion of health insurance to an estimated 96 percent of legal US residents under 65• Individual mandate with penalties•.Employer mandate for those with payrolls over $500,000 wi

I have so much to blog about from HPSland, but it's been a very busy few days. In the meantime, I'm trying to get through the last of the vacation pics. Here's another from Beauty and the Beast.

The following news story ran in Staten Island. Look past the snow shoveling for seniors. What a great way to get lots of crafts to sell at upcoming HPS events. Way to go! I'm pretty sure the Diaz family is behind this effort - this is their neck of the woods and I'm pretty sure Liz said something about it. I've just been a space cadet with everything going on these past few days. Here's the story - and don't forget - every craft counts! Snow-bound seniors need help from shovel-ready teens Thursday, October 22, 2009 Staten Island Advance STATEN ISLAND, N.Y. -- While weather forecasters are dithering over how much snow we will get this winter, 2,500 seniors have been busy signing up for Where-To-Turn's Snow Shoveling For Seniors program. Now, students are needed to shovel those walks when the first snow flies. The seniors are residents of communities all over the Island. Students -- seventh-grade through high school -- should be able to work within walking distanc

The following is a call-to-action sent out by NORD - the National Organization for Rare Disorders. This is a big issue for many in the HPS/CHS community. Many HPS'ers have large medical bills over the course of years and years. Most insurance offers up to a millon worth of medical coverage. That might sound like a lot, but trust me, with the cost of health care today, it isn't hard to meet that cap. If, for example, you need a lung transplant the surgery alone runs about $300,000. That doesn't include pre-op workup and care or post-op anti rejection drugs. Many HPS'ers require expensive medications such as Remicade at $10,000 an injection every six to eight weeks. Couple that with other complications as life goes on, and once again, the bills start adding up fast. If you feel so moved, please call your Congressional representative and ask them to sign onto this letter to abolish insurance coverage caps sooner rather than later. Here's the info: Please share the foll

Yes, I know, I haven’t blogged much in the past few days. I’ve been rather busy! Over the weekend and into this week I attended the American Academy of Pediatrics with Gina and Hilda from the HPS Network. We partnered with a group from NOAH (National Organization for Albinism and Hypopigmentation). It was a great chance to get to meet some others in the albinism community I didn’t really know much about before. Chris Meyers was the muscle, constructing the booth and tearing it down again. (Thank you Chris!!!!) We had several moms with children that had albinism, and another adult with albinism named Liz. I know you all won’t believe it, but in the chaos of putting together my new office, I left my camera on my desk at home. I can’t believe it!!!! However, photos will follow as thankfully some of the NOAH folks had their act together and brought cameras. NOAH promoted their new book on raising a child with albinism as well as their rapid responder program for families with a new albinis

Today is the last day to vote for the HPS Network to help us win up to $10,000! Vote for the HPS Network at: https://www.christiecookies.com . The top 10 charities will win between $1,000 to $10,000 for their cause, depending on who has the most votes. Please enlist your friends and famly to help as well.

This morning we added yet another person to the HPS patient registry. That puts us at 34 to go on the Hundred People Search - keep up the great work!

After Donna, Ashley and I had each finished a dish of mint ice cream, and Julie and Mervin had finished torturing themselves, we went to see Beauty and the Beast - a live outdoor stage musical production. It was WONDERFUL! The quality of the performance was exquisite - as were all the costumes etc. And since it was outdoors, I could take photos. They said no flash photography, not no photography. So, I have a LOT of Beauty and the Beast photos - get ready!

Here we are walking into the MGM park. It looks as though the place came out of the 1950s. We didn't make it to MGM until much later in the afternoon so our time was much shorter there. There just wasn' enough time to do everything. Mervin and Julie, however, the daring duo, headed for the Tower of Terror! The tower is a replica of a hotel. Apparently (according to Julie as I certianly didn't go on this ride) you go up in the hotel, getting a little tour. When you get to the top you're in this elevator and the elevator drops - several times - unexpectedly and a different amount each time. You know, if the CIA did that to people, it would be called a human rights violation and torture! But Mervin and Julie loved it. They went twice!

I stopped and took this photo on the way out of the Magic Kingdom park. One thing that really impressed me was how much attention to detail Disney spends on every aspect of the parks - even though they are so huge. Every flower bed, every store front, is a little "experience."

This was another ride I remembered from my last visit to Disney at 12. It’s a pretty easy going ride – just about my speed. You sit in a buggy and move through the corridors of the haunted house. As you can imagine, the graphics are detailed and great – you could go through several times and see something new every time. I didn’t find it particularly scary – but very entertaining.

I can’t remember the name of this ride at Disney, but boy, I’ll never forget the smell. As with most of the rides, it was an experience. The riders played the role of cadet prison guards for the universe at a prison designed for all manner of alien life. Of course, just as you’re getting your “training” the supposed biggest baldest criminal in the galaxy shows up for intake – only he’s a cute little thing. That is until he escapes. We were all in these chairs and these bar things came down over our heads so you couldn’t move around much. Then it got dark as the alien tried to avoid recapture. He spit on you (you could feel the spray) and at one point he let off the most horrible oder. I’m not sure if it was supposed to be a fart or a belch, but it STUNK like nothing I can really compare to it. Of course, some of us with lung issues can be especially sensitive to smells – and I’m one of them. I felt like I couldn’t breathe for a few minutes and was quite happy to have that thing removed

I'm posting this update early this week, and will follow it up if others turn up by Friday. I'm getting ready to be on the road, and didn't want this to fall through the cracks with so many other things on my mind. We added a new person to the database this week - thus we're now at 35 to go on the Hundred People Search. Keep up the good work everyone!

Yesterday was such a great day for being nothing special. It was the first full day I spent in my new office. It’s so wonderful to have enough room to work!!!! It rained all day – and you know I love the sound of rain – that soothing pitter patter on the pavement outside the window. The sound is instantly calming to me. It was cloudy and overcast, making it easy for me to control lighting conditions. I just enjoyed working away all day. I still don’t have everything put away. That may take some time. I can’t really afford to take several days off to get everything just so as there’s so much going on in the HPS Network. Instead, I take a break every so many minutes – walk into the living room, scoop up a handful of things and then put them away in the study before going back to work. Looking at the screen for more than a half hour without just a little break, even if only 60 seconds, does a number on my vision. Lastly, I was so thrilled yesterday to pick up a freelance assignment. It’s

Growing up as a kid with a vision impairment, there are a lot of things in life I never automatically assumed I'd be able to do on my own - whether because of my own lack of confidence or the messages I got from others. I worried much more than the average kid about things like just being able to get from point A to point B - heck, even just being able to find point B! As I grew up, and figured out how to do all of those things that once seemed so impossible or scary, the upside (besides learning to be independent) was the great sense of satisfaction you get from surprising even yourself. One thing I've never been that great at is using tools or building anything. When it came time to order a desk with the help of Kansas Voc. Rehab, the best deal I could find for the money I could spend was a desk that had to be ordered and then put together. It came in three large boxes and had lots of screws and washers and bolts and such things. I assumed I'd need help putting it tog

This was also one of my favorite rides. I remember it from my Disney trip when I was 12 and went to the park with my church singing group. I think the pirates were from a different movie back then, but hey, a pirate is a pirate. In this ride you take a boat to the land of the pirates – their sort of secret hide out city. The detail is amazing. You could take the ride over and over and see something different every time. Some of the pirates are fighting, others flirting, others leaning over bridges going over the canal with your boat taunting you. There’s just so much to look at!

I’m starting to forget some of the names of the rides we did at Disney, but one I remember very clearly, even if I have the name off, is Mickey’s Symphony. I expected it to be a very kid-oriented experience, and it was, but it was just as fun for adults too. I was also worried we wouldn’t see a thing because we were in the last row. In fact, it didn’t matter at all and we saw just fine. The experience is 3D, so the characters pop out of the screen and seem to come to you, rather than you trying to strain to see them on the screen. The cinematic concert takes you through a wide range of Disney hits. The concert moves from a cartoon video of a symphony, to a 3D cartoon experience, compete with the smell of apple pie at the Beauty and the Beast feast, or the splash of water as you dive into the little mermaid’s home, to the feeling of wind on your face as you ride Aladdin’s carpet. It was very, very good – a must do at the park.

Just a little update for record keeping – grin. All and all I’m doing well. I have been fighting sinus troubles off and on – probably more on than off – lately. My sleeping patterns had been delightfully normal until two days ago. A few code browns at night, and well, I’m all turned around again. My voc. rehab counselor is supposed to be paying a visit in the morning, and I’m trying to decide if I’m better off to try to stay up all night again or not? I've had a LOT of fatigue this past week, but the sleep patterns getting all wonky probably account for a lot of it. It’s so easy to get out of sync, and so hard to get back in sync again. Groan. My joints have been bothering me again too – not badly, just a moderate sort of annoying ache that mostly happens in the night or early morning. I think because of the sinuses, and the work I’ve been doing on the new office, I also have had a pretty constant dry cough for about a week. It’s also been keeping me up at night too. I've had a

This evening I heard the most moving commentary on NPR by a woman remembering her friend who passed away from breast cancer. She remembered her friend’s incredible coping spirit to move on and do what she wanted to do even when conventional wisdom might have suggested she do otherwise. She spoke about the losses her friend experienced as she became sicker. The most painful of these losses was the loss of being able to do “mom stuff” for her eight-year-old daughter – things like driving carpool or baking cookies. I was moved by the essay, partly because of the story, partly because it was so well written, and partly because although I’m not a mom, I’ve seen similar situations play out in the HPS community and hearing the loss of “mom stuff” brought back memories of heart-to-heart conversations in the wee hours of the morning with friends while their children slept. Although the essay was for Breast Cancer Awareness Month, it made me think again of our documentary film. I’ve been asked o

Many HPS’ers that have been around for a few years might remember the film crew that came to conference two years ago from the Stanford Center for Bioethics. They filmed a good deal of conference and conducted a number of interviews. Since then they’ve done additional filming with Ashley and I. The project is being done in two parts. The first part was a half-hour film that is focusing on the issues surrounding a patient advocacy group working so closely with investigators on a clinical trial. This film is intended to be used as part of a medical school curriculum. The filmmakers have applied for an additional grant that would allow them to make an hour-long film focusing more on the issues surrounding living with a chronic illness. We’re all hoping that one day it airs on PBS or some other well-known broadcast network. Yesterday the half-hour film was screened at the University of Washington Medical School for a class there, and today it was screened at Stanford for 150 medical studen

I know this photo looks hazy, but it just shows how HOT it was the day we were at Disney. A rain storm came through, and after it left there was literally steam coming up off the pavement making everything hazy - and making my breathing oh so much fun! It didn't last too long though.

This week two new HPS'ers were added to the patient registry. That puts us at 36 left to find before March to meet our goal. I'm starting to think we might even be able to pass the goal! Last year we ended at 32 short of our goal, and now, with months left, we only have four more to go to tie last year.

Well, actually, it isn't Ashley's birthday - but the trip to Disney was her birthday present and birthday party so they gave her a birthday pin. Everywhere she went they wished her a happy birthday. And at lunch, they sang to her.

I’m sure some of the regular readers are by now growing weary of Disney pictures – and trust me, there’s more to come. They’ve been very convenient for me to post lately because I’m in the middle of living in chaos. It’s a good chaos though! My new desk has arrived in three large boxes. I decided to take the opportunity of getting a new desk and new computer equipment to completely clean my office from top to bottom. I moved all of the bookshelves, filing cabinets, art supply cabinet and drafting table into the living room. It took days. Sometimes it seems like certain tasks that once I could have completed relatively easily now just take so much effort. And who would have guessed how much junk I’ve managed to sock away in this study over six years! Oh my! I threw out several large garbage bags of stuff, and I probably have more to go! I thought this process would take at the most a day or two – it’s now dragged on for two weeks! Today I finally got to cleaning the carpets in the study

Right up there with Pooh, one of my earliest Disney memories is the song, “It’s a Small World After All.” I remember the song, and I also remember getting in trouble when I was four because I lost the copy of the song that came from Recordings for the Blind. Funny how you can remember getting in trouble for things even when you were small. Another of the rides we enjoyed (although I couldn’t photograph) was the It’s a Small World ride. You get on a little boat and you float through various regions of the world decorated as though they were on top of a sugary cake. All along the route there are mechanical dolls dressed in national costumes and dancing and singing the “It’s a Small World” song. It’s just so cute – especially for a doll collector like me. I’d have loved to have taken a few of those darling dolls home. Sometimes it just isn’t about acting your age – it’s about finding your inner child.

Yeidyly Vergne Martinez, MPH and board member of the HPS Network Puerto Rico, as founded an online art gallery of her work on Facebook called Memories of a Fairy. Fifty percent of the sales from the gallery will be donated to the HPS Network. Check out Yeidyly’s artwork at: http://www.facebook.com/heather.kirkwood1?v=feed&story_fbid=151266849878#/group.php?gid=147133679690&ref=mf Alternatively, friend Yeidyly on Facebook to see her work.

This was a very cute ride, even if we stuck out a bit as five adults in line for it! You ride the honey pots through the Hundred Acre Wood and meet all of Pooh's friends. It's just darling.