Living on the frontlines

The office is in chaos as we get ready - there's "baby" right in the front.

I’m back home! I had hoped to be able to keep up with the blog while at the conference, as well as the listservs – but alas the wireless at the hotel wasn’t working. I didn’t see the point in paying for a LAN connection since by the time I was back in my room at night, I was pretty much ready to just fall into bed. I didn’t get to take very many pictures this year, but luckily a number of HPS’ers have already been sending me pictures to post to the blog. If anyone else has some great shots they’d like to share, I’d love to have them for the blog and the photo archive. I arrived at Donna’s house mid afternoon on Wednesday to help get ready for the conference. Conference preparation is truly an amazing operation. It’s hard to explain to everyone what it takes to make conference happen every year. I know everyone knows it takes a lot of work, but it’s more than that. It’s the thousands of details, little ones and big ones. There’s the photocopying and printing alone. When I arrived the of

Do you use American Printing House for the Blind products? Than you might want to try to earn a little cash by entering this essay contest. Check it out, but the deadline is coming up fast - April 1st. Printing House for Blind seeks essays for contest JEFFERSON The American Printing House for the Blind is conducting an essay contest and inviting the public to tell how its products have made an impact on their lives. The contest is open to students with a visual impairment who are enrolled in grades 3-12 for the 2007-08 academic year, adult consumers of printing house products and teachers of the visually impaired, rehabilitation counselors, and other professionals in the field of blindness. First-place winners in the adult categories and students in grades 9-12 will be able to choose either a Braille+ Mobile Manager or a $1,000 printing house gift certificate. Students in grades 3-8 who place first can opt for a Manual Perkins Brailler or a $750 gift certificate. The deadline for entry

I haven’t posted in days. Regulars know this is highly unusual. I’m addicted to self expression and it just about kills me not to be able to journal, or blog. But these past few days I’ve been so under the weather the building could have caught fire and I wouldn’t have cared in the least. I just would have rolled over and enjoyed the heat since I had a bad case of chills. Last week was the week from Hell. It really put a damper on Easter. I feel like all the things I love about Easter, all the spiritual preparation etc. just sort of fell by the wayside. As I had blogged before, we were very behind at work. I had stayed home Monday last week (after sleeping all weekend) thinking that I could sleep off this bug. It seemed to be viral and not bacterial and I really hated to waste the money and the time off work to be told to drink more orange juice and get plenty of rest. So, Tuesday and Wednesday I struggled through my day feeling horrible. I mean pretty darn horrible, which doesn’t help

It is truly frustrating how many people with Hermansky-Pudlak Syndrome go undiagnosed. Later this year the HPS Network is planning a major outreach effort in Florida. While HPS is not “just a Puerto Rican thing” it is more common in Puerto Rican communities – and Florida has a lot of these communities. According to the U.S. Census Bureau, there are nearly 800,000 people of Puerto Rican background in Florida. If you stop to consider that HPS typically occurs in one out of every 2,000 odd births in this population – there are likely several hundred HPS’ers walking around in Florida completely unaware they have the syndrome. So, we’re going to try to find them. Sometime this summer the HPS Network is hoping to host a one-day mini HPS Conference in Orlando. To maximize the efforts of our doctors from the NIH that would come to speak, however, we are trying to build relationships with local hospitals and hopefully do some educational sessions at area medical centers for medical staff. Elsie

As my friend Sheena would say, I need a little cheese to go with my whine. I’m in the mood for a good whine. Ever want to cut your nose off from the rest of your face? How is it possible that gallons of snot can come from a single person’s head? Is it possible there’s an invisible structure squeezing my head? And how on earth did I manage to swallow all this glass? That’s how I feel. Tylenol does improve things, and the sinuses do dry up for a few hours at a time – although my nose now looks like a Rudolf imitation and it occasionally bleeds from the chapping. Just what I need, the occasional drips of blood to further distract my day. My joints ache, for which the Tylenol doesn’t help. I have to pee constantly and yet can’t seem to drink enough. But these pesky magazine deadlines are nipping at my heels. I’m tired, so tired. I’m so tired I slept through my alarm this morning and then fell asleep standing at the telephone poll waiting on the bus. Honest. I fell asleep standing up, my pu

Team HPS raised more than $2,500 for HPS - the total isn't completely in yet.

While the Falcons were playing hockey, in Greensboro team HPS was walking in The Human Race. I especially want to point out the woman sitting next to Karen at the table. This is Karen Bailey. Karen Bailey spent most of the last year in the hospital after contracting MRSA. She's made a miracle recovery after many didn't expect her to make it. Although she's now using a wheel chair, Karen really wanted to help raise money for HPS. How's that for touching? She raised over $1,000 for HPS and did the race in her wheel chair. Holly, Karen's daughter, also raised more than $1,000 for HPS. Way to go gang!

Pictured here is the HPS Hockey gang, minus Christina's dad. Pictured here are: Rebecca, Veronica, Christina (one of our newer little HPS'ers), her mom Sarah and Carmen. A special thanks to the Springfield Falcons for donating a percentage of their ticket sales to HPS!!!!!

I hear this was one of the more popular raffle items - grin!

Here are the three musketeers from Boston - Rebecca, Veronica and Carmen.

As many of you know, this was quite the fundraiser weekend. We had a number of HPS fundraisers underway this weekend. I'm waiting on info from all of them to flow in. Here are some pictures from the fundraiser in Springfield, Mass. organized by the McGillicuddy family. Here, Carmen, Rebecca and Veronica, HPS'ers all, are working the information table.

Well, there’s a weekend that never was – and today I’m home from work too (although I’m about to get online and try to work from home.) I’ve got a cold. It’s just a run-of-the-mill virus I think, but with all my other medical crap, the last thing I need is another reason to miss work. But, I’ve been running a fever of 102 all weekend (down to 100 today) so I think it better not to be around any other germy people. My throat hurts, my nose is dripping, I’m coughing, my joints hurt – waah, waah, waah – and I’ve got to get the issue finished so I can get to conference.

Today the folks in Greensboro - Tillman and company - did The Human Race fundraiser. Last year Karen won a local volunteer of the week award for her efforts. Tommy, her husband, has now put the video on YouTube. I thought you all might like to see it.

Just passing this along - it's a scholarship time of year! If anyone else knows of other scholarships the Hermansky-Pudlak Syndrome community might be eligible for, let me know. Also, NFB state affiliates often offer scholarships using the exact same form. Sometimes they're easier to get than the national ones - I can say that as both a state and a former national scholarship winner. NATIONAL FEDERATION OF THE BLIND2008 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 , 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 2008 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 a

Chediak-Higashi Syndrome, or CHS, is another syndrome similar to Hermansky-Pudlak Syndrome that can occur among people with albinism. CHS involves a lot of additional health issues because the immune system is so compromised. But many CHS'ers are now living longer lives thanks to bone marrow transplants. Here's a young lady in Australia with CHS that made the news. Shy-Ann kicks off heeling process Friday, February 22, 2008 EIGHT-year-old Shy-Ann Marshall has a shoe fetish - and with $2000 she can buy all the footwear she wants. Her wish was granted by the Make-A-Wish Foundation last night when she received $2000 in vouchers to go on a shopping spree in Cairns. "She loves shopping," Shy-Ann's mum Tianie Healey said. "She has a shoe fetish and wants to shop for 17 pairs of shoes but I told her with that amount of money she can buy more than just shoes." Also on the Machans Beach youngster's shopping list are make-up, games, a hair dryer, clothes and a

Regular readers know that one of my biggest political issues is funding for the NIH – and frankly funding for scientific research as a whole. During the Bush administration funding for medical and scientific research has been cut dramatically. Obviously, NIH funding is near and dear to my heart, and my lungs actually, as I’d like them to keep working. Oh, and I’d like my guts to keep working, and I’d like to not bleed everywhere, and hey, seeing better might be nice too. The NIH is crucial to continuing HPS research. But political issues surrounding science are often ignored. Because these issues are so vital to our heath care, and the economic health of our country, a number of scientific associations, medical associations, Nobel Prize winners etc. are trying to organize a presidential debate about just science issues. McCain, Clinton and Obama have been invited. So far none have accepted. I’d love to see this debate. It would really help me make a decision about my vote. If you’d lik

Many readers seem to like some of the articles I’ve rerun here about various issues that impact the Hermansky-Pudlak Syndrome community. As many of us are legally blind, a lot of those articles have to do with vision. I read the following opinion page article in The New York Times today and I thought it was very well put, although the author claims to have a great memory because of his blindness. My memory isn’t quite as good – at least for certain things. The article is about David Paterson who is about to become governor of New York. Politics aside, I think most of the legally blind community is ecstatic to have a legally blind person in such a high-level position. The author of this article is right about one thing – often people with disabilities bring an extra skill set to the table instead of a more limited one. I’ve been trying to convince the journalism world of this for years. The funny thing about diversity is you can’t just do it to look like a fashion commercial – you’ve ac

Looking for some money for college? Know someone the HPS Network could nominate for one of these awards? I'm just passing along the info - grin. Overview A common and unifying experience for many people after ostomy surgery is the feeling that they can once again lead a normal life. The Great Comebacks® Program recognizes these individuals who are inspirational, both in their personal lives and in their contributions to their communities. Anyone who has overcome the difficulties of living with Inflammatory Bowel Diseases (Crohn’s disease and ulcerative colitis), colorectal cancer, or an ostomy, and whose story can encourage others, is eligible for the Great Comebacks® Awards Program. Through the awards, and the efforts of the recipients, we hope to further de-stigmatize intestinal diseases and ostomy surgery and help give people the hope, guidance and the information they need to make their own Great Comeback®. If you, or anyone you know, would like to participate in one of our thr

How about some happy news from the HPS family? Many conference goers will remember Paul O'Donovan. He's an HPS'er from Ireland and attended conference three years in a row, the first time with his mom. Well, Paul has gotten married! Pictured here are Paul and his new wife, Dela (who is an American by the way.) Grin! Congrads to you both! We're all so happy for you!

The joint pain I’ve been describing as mild and annoying graduated to just plain yucky last night. The worst pain was right at the base of my back, and it was definitely more than annoying. It just plain hurt. I came home from work and just laid on my bed in a fetal position hurting. I decided enough was enough and I broke down and took an Oxycodone. Tylenol wasn’t hacking it. I HATE taking that stuff. I’m terrified of getting addicted to it, and it makes me so groggy. But, I must confess, after it kicked in I was kicking myself for not having taken one sooner. Even though I was groggy, it was so nice not to hurt anywhere, even just a little. I’m not sure where this came from last night. I had the TV on for a while, and the radio and I was sort of drifting in and out a bit. But somehow the phrase came to me, “You’ve got to do it like you’d eat an elephant, one bite at a time.” Wow – guess it stuck because the image is a pretty good one for my life right now. I’ve got all this stuff to

Contact: Sara McGillicuddy, (413) 783-5448 or by email smcgill3@comcast.net . Donna Appell, President, HPS Network, (516) 922-3440. Date: April 10, 2008 FOR IMMEDIATE RELEASE Falcons show heart by promoting awareness of rare genetic syndrome Springfield, Mass – The Falcons are teaming up with the Hermansky-Pudlak Syndrome Network to help promote awareness about a rare genetic syndrome affecting several local families. Hermansky-Pudlak Syndrome is a rare type of albinism that causes a visual impairment and bleeding disorder that can vary from mild to life threatening. Some genetic mutations also involve other health issues such as digestive problems and pulmonary fibrosis or a scarring of the lungs. While many people with HPS don’t live beyond their 40s, there are a number of exciting treatments currently in clinical trials at the National Institutes of Health. But because the syndrome is so rare, many are unaware they are affected and thus cannot take advantage of these research develo

I love good quotes. I love those books of famous quotes and those calendars with the quote of the day on them. Today’s quote of the day seems especially fitting for those of us living with Hermansky-Pudlak Syndrome. It’s from General Omar Bradley who became famous for his role in World War II, later became the first Joint Chief of Staff and was the last five star general we had in this country – at least the last one I can remember (yeah, I grew up as a military kid.) Gen. Bradley says, “It is as true in everyday life as it is in battle: we are given one life and the decision is ours whether to wait for circumstances to make up our mind, or whether to act, and in acting, to live.” Yep, that seems pretty true of fighting Hermansky-Pudlak Syndrome. You either have it, or you don’t. We all wish we didn’t have it. But, if we do, we have two choices. We can sit around and wait for nature to act, or we can take action. For me, action is power. Everyone has their own method of coping and I’m

We interrupt this blog to briefly record a few medical details so I don’t leave them out of my drug trial journal. Frankly, I haven’t felt great since last Tuesday night. Last Tuesday night I had the runs pretty bad and out of no where. When you have an ostomy, this is a bit of a problem. Let’s just say the container is only so big – and if the river keeps on flowing, sort of speak, pretty soon the result is a very nasty explosion. So, I was up all night going to the bathroom about every 45 minutes. By the time morning arrived I still hadn’t been to sleep. I was exhausted and feeling pretty dehydrated. I called into work to let them know I wouldn’t be in – a real problem since as usual we’re behind schedule and understaffed. I felt better by the evening, but then it was as if all the emotion of the previous week with the passing of Elizaira hit me all at once. All I wanted to do was hide under my quilt and pretend the entire world didn’t exist. I don’t normally get like this, but somet

As many of you know, some advocates for the blind are working on legislation in Maryland, Arizona and Hawaii to require electric cars to add some noise so that blind people can hear them coming. It's stirred up quite a debate. The Arizona Republic ran an editorial I beg to disagree with, but perhaps what was even more alarming were the comments sent in by readers. I urge you to read the editorial, and then check out the comments. If you need a reminder about how far we've got to go in this world to educate the general public about blindness and low vision, here it is. I especially loved the one by the person who questioned why blind people would cross the streets by themselves anyway - oh yeah, nice. Here's the link: http://www.azstarnet.com/allheadlines/227405

This is just sort of an FYI to my regular readers. One of the reasons I have my comments set to be approved is I get a lot of spam comments and I don't want to encourage them by posting them. In the last few days I had several comments suggesting Web sites related to things I had written about. I'm happy to pass along good resources from sources I know - but if you post without using your name I probably won't send any Web site suggestions through. If you want to make a suggestion, but also want to do it without using your name, that's okay. Just e-mail me and tip me off so I know where the suggestion is coming from. Thanks from Heather's anti spam campaign! Grin!

It's easy to gripe at companies when they do something wrong. But, in my opinion, it's equally important to give them a pat on the back when they do something positive for the community. I posted some time ago about this science academy opportunity for blind and visually impaired third to sixth graders. Oracle has stepped up to the plate to help fund this endeavor. Bravo! Grant Helps Fund First Youth in Science’s 2008 Junior Science Academy REDWOOD SHORES, Calif., FEB-2008 Oracle and the National Federation of the Blind (NFB) Jernigan Institute’s National Center for Blind Youth in Science (NCBYS) today announced that they will work together to help open the door for young scientific explorers. As part of this collaboration, Oracle will help fund the NCBYS’s first Youth in Science’s 2008 Junior Science Academy (JSA) as a way to make science come to life for blind students across the United States. "Oracle is proud to be a sponsor of this year’s science academy and we look f

I'm just passing this along in case anyone is interested. 2/26/2008 FOR IMMEDIATE RELEASE CONTACT:John G. Paré Jr. Executive Director for Strategic Initiatives National Federation of the Blind (410) 659-9314, extension 2227 (410) 913-3912 (Cell) jpare@nfb.org National Federation of the Blind Announces New Summer Program to Empower Blind Teens Students will Build Skills, Increase Confidence, and Gain Work Experience! Baltimore, Maryland (February 26, 2008): The National Federation of the Blind, the largest and most influential organization of the blind in America, today announced that it will hold the first-ever Teen Empowerment Academy at the NFB headquarters in Baltimore. The Teen Empowerment Academy is the newest program in a series of initiatives striving to drastically increase the educational, social, and vocational opportunities for blind youth. The eight-week residential training program, led by blind instructors and occurring from June 15 to August 9, 2008, is designed to h

In the Hermansky-Pudlak Syndrome community, we know all about stress. We’re experts. We know about the stress of living with chronic health problems. We know about the stress of a sometimes uncertain future. We know about the stress of limited finances, of working with overworked and understaffed (and often under-appreciated) state and federal agencies. We know about the stress of coping with a disorder that often requires us to learn more than the average patient might have to learn about medicine and health care. We know what’s its like to find ourselves in the position of advocates for our very lives – whether we ever wanted to be there or not. Yep, we’ve got stress down pat. Coping with stress well, however, is another story. I have to say I don’t always do it well. I didn’t get this, uh….hum, figure by not coping with stress by trying to save time by cutting corners or skipping exercise. This year in particular has been one major stress pit between the sale of our magazine, being

This is a post for readers in the Washington DC area who might want to take their kids to the circus. You can buy discounted tickets for the Premiere Night of the Ringling Brothers and Barnum and Bailey Circus and help out the charity Friends of the Clinical Center and NIH Charities. Friends of the Clinical Center is a charity that raises money to help patients with unexpected or unusual needs while being treated at the NIH. It might be that they had to stay longer than expected and thus need help with bills back home. It might be that something happened and a relative needs to be flown in unexpectedly. They work to fill in the gaps that sometimes the government can’t fill. NIH Charities helps to buy things like items needed at the Children’s Inn at NIH, among many other things. If you’re interested, Premiere Night is Wednesday, March 26, 2008 and the circus is being held at the Verizon Center. At 6:00 pm there will be a special hour of hands-on interaction with circus performers, and

This post is actually from Carmen Camacho. She has been talking with Alex through this whole thing as he doesn't speak English. She passed along the following message. I've been passing along all the sympathy e-mails, posts and phone calls from here too. I think it does mean a lot to the family. Hi group Last night I called Alex, Elizaira’s husband. He is doing OK and wanting to go home soon and be with his children, two cute little girls that are 4 and 6 years old. He will be leaving today and Elizaira will be arriving in PR on Friday. I explained to Alex about our list serve and told him about all the beautiful messages that you guys had for him. I told him how we all felt that Elizaira had a very courageous spirit and how, without knowing, she has paved the road for others. She is truly an inspiration for us here in the states as well as for all of us around the world. Alex wanted me to tell you that he was grateful to have our support; he expressed his appreciation to the N

I know that many of you have been following the story of Elizaira from Puerto Rico. I’m sorry to report that she passed away at 6:00 am on Sunday morning, March 1, 2008. She was 29 years old and leaves behind a husband, two beautiful children and a very loving extended family. Elizaira was amazing. She first contacted the HPS Network less than a year ago. She was having trouble breathing and didn’t know about HPS or the possible lung complications. Already her pulmonary function tests were quite low. Elizaira cared for all of us from the very beginning, before she even knew us. It just so happened that the documentary film crew was at the HPS Network office filming the day she called for information ( It was the second time she called ). The film crew asked if they could film Donna speaking to her and doing the initial new person intake, and even though she didn’t even really know us, she opened up her life for our benefit and agreed. She traveled to the NIH hoping to be admitted to o

The following comes from my friend Tina. Tina has been a big help with HPS fundraisers in the past. Now she's working at the Kansas State School for the Blind. Although this call for careers says local, she's really interested in developing a database of blind/legally blind adults with a very wide variety of careers. So, you don't have to be in Kansas to help her out. Just return the following info to her at the e-mail address listed below. Thanks for the help. Dear Colleagues and Friends: I am working on a project for the vocational program at the Kansas State School for the Blind, and I need some help. I’m attempting to gather the names of as many people who are blind or have low vision who are employed. In their vocational classes, students are asked to conduct phone interviews with people with visual impairments whose type of employment is of interest to them. If you would be interested in participating in such activities, if you know someone who would be interested, or

I am happy, although perhaps a bit late, to report that both of the hospital twins are out of the hospital. Sheena is doing well at home and drinking her little heart out so as to not get dehydrated again. Karen is also home, although her white blood cell count is low, probably because of the Imuran she was on before. She's back on Prenisone (sp) and we all know how happy she must be about that. Look out! Furry objects beware. (Karen has had a tendency to want to pluck the fur out of things when she's on this drug as it can make you a bit moody and anxious.) Today was the kickoff party for Karen's annual fundraiser. I tried to talk her out of having it given her white blood cell count. But Karen is stubbron and she was determined to do it. She swore up and down she'd wear a mask and spend as little time with the guests as possible. I checked up on her this evening to make sure she was up in her room all on her lonesome instead of partying with the teens downstairs. Inde

I saw this article this evening when I was on the Newsweek Web site. I've got a bad case of writer's block and sometimes reading helps to unblock me. As so many of us in HPSland have our own blogs now, I thought you all could expecially relate to this story and might enjoy it. For me, this blog has been so much more than I could have ever imagined when I started it. It's given me a voice when I felt voiceless. That can happen a lot when you're battling chronic illness issues. HPS is so rare that sometimes you fee like no one can understand, or even worse, that no one cares about your experience or your story - and if they don't care about that, they'll never help to find the cure. There are times when family and friends, especially those outside of HPSland, just can't deal with my life. Someday, if they really want to ever know me, they'll find me here. And I can relate so much to the comment made by the teenager in this story that had cancer. I'm no