Living on the frontlines

Pictured above is Richie looking a bit worn out. It’s no wonder. Richie is another one of those unsung soldiers in the war to cure HPS. He’s Ashley’s older brother. Richie is the nicest guy you could ever want to meet. He’s helped out with HPS projects, probably every since he can really remember. He’s hauled boxes, unloaded trucks, answered phones, babysat and on this most recent Florida outreach, been a driver for the outreach team. Richie has also often made donations to the cause out of his own funds, and hey, when you’re a kid, and then a college student as Richie is now, those funds are hard to come by! So, a big kudos and thank you to Richie who has always been there for those of us with HPS. Thanks Debbie for the pic!

I spoke with Janet earlier today. She’s getting anxious. Every day they seem to say that she’s getting out of the hospital, and every day it’s one more day. She’s hoping today will be the big day. Janet sounded great! She’s down to one liter of oxygen at rest, but it may take as long as a month to completely get her off the oxygen.

Here's Donna at what I guess is the end of her talk. Note the slide says "We are winning." She's right. This is an exciting time in Hermansky-Pudlak Syndrome research. We're learning so much and we are making headway.

The outreach in Florida was definately a success. I'm still waiting on all of the information to be processed to see how many new people we found. But, we were also able to reach some folks we knew already, but who had not been able to attend an HPS conference. Here Donna is giving her history of the Network, I'm guessing, because that's Ashley's baby picture on the screen! Thanks to Debbie who sent this pic from her cell phone camera.

Just a few more days before Ryan and Sara are in Kansas!

While on the American Lung Association Web site, I found the following release. It came out in May, and I meant to look it up then, but sort of forgot about it. At any rate, as many of us have trouble with air quality and breathing, I thought some of you might be interested. Wouldn't you know Washington D.C. was not exactly the best place. Oh well.....I whined to myself....but they have a metro. Waaahhhhh.... AMERICAN LUNG ASSOCIATION ISSUES STATE OF THE AIR REPORTFIRST CITY OUTSIDE CALIFORNIA (PITTSBURGH) TOPS ONE OF THE MOST-POLLUTED LISTS National Trends Show that Declines in Ozone and Particle Pollution Have Stalled Contact: Carrie Martin(202) 715-3461 cmartin@lungusadc.org Editor’s Notes: American Lung Association subject matter experts available for interviews— Bernadette Toomey, President and CEO; Dr. Norman H. Edelman, M.D., Chief Medical Officer; and Janice Nolen, Assistant Vice President, National Policy and Advocacy. Online maps pin-pointing cleanest and most-polluted ci

I talked to Janet over lunch. She’s doing much better. The fluid that was building up around her new transplanted lung seems to be almost gone. They are hoping to take the tube out today. She said she’s been walking around the hospital and feeling better. They have started to taper the oxygen again now that there isn’t so much fluid. Janet wants out of the hospital. She’s been a trooper. She’s been patient. But she’s climbing the walls – she wants OUT! Hopefully that will happen this weekend. Fingers crossed!

Making it easier for people requiring oxygen to travel on airplanes has been another advocacy issue for the HPS Network. It's something we've advocated for on Capitol Hill with the American Thoracic Society. Currently it can be a real pain to travel if you reuqire oxygen. Some airlines flat out won't allow it. Others will, but they won't let you bring your own and they charge you a nice little fee for the right to breathe on their planes. They don't always provide oxygen for flight changes, delays or cancellations. The patient has to pay for and arrange all of this. It's no picnic. It seems that Canada has seen the issue as one of access for the disabled. (This is something I'd like the revamped ADA to cover.) They've announced steps that are ahead of the U.S. This is great for Canada, and it's great for us. We can now point to Canada as an example to show it can work and not be dangerous. Here's the press release from the Canadian Department of

The following is a press release from the American Lung Association. I wanted to give a little background first. The HPS Network, in cooperation with the American Thoracic Society, has lobbied for pulmonary rehabilitation to be covered by Medicare. Many insurance plans don't cover pulmonary rehabilitation, although many HPS'ers and other patients with pulmonary fibrosis, find it useful. Insurance companies tend to follow the lead of Medicare, so it's the hope that this bill will make it easier for patients with pulmonary fibrosis to get pulmonary rehabilitation covered. I know the release talks about COPD, but it really goes beyond that. I must admit, personally, when I read the ALA's smoking info. I have mixed feelings about it. On the one hand there's no doubt that smoking causes all kinds of health problems and really costs the United States a lot of money annually. I'm happy to see the advocacy for smoke free zones as I'm the person that calls in advance

Here's an update from the New York Times on the move to revamp, and hopefully improve, the Americans With Disabilities Act. I personally have mixed feelings about this. But, I must add that with everything going on in HPSland I haven't had time to adequately research this. My concern is this: if we expand the definition of the disabled in this way, does that then make them eligible for programs designed to encourage employers to hire the disabled. And, if so, how? Here's the scenario I'm worried about. Let's say there are two applicants for a job. Both apply under a program designed to encourage employment of the disabled. One has, say, an illness that is currently controlled by medication and not easily visible to the employer. The other is, lets say, blind. The employer is going to get "credit" for being a good employer and hiring someone with a disability either way. One person requires no adaptations, no money spent to make anything accessible etc. The

The following article appeared on the Web site ARS Techika. While it is about a program for cystic fibrosis, I can see lots of implications for other disorders like pulmonary fibrosis. Hey, entertainiing pulmonary rehabilitiation you can do at home! And lots of people don't take inhalers correctly, so learning to do it with some feedback would be useful! Games for Health program explores gaming-fitness connection By Michael Thompson Published: June 25, 2008 - 12:48PM CT The idea that video games can be used to help both doctors and their patients is nothing new , but it's a notion that is gaining an increasing amount of credibility. The Robert Wood Johnson Foundation is providing grant money to a number of research groups via its " Games for Health " program. The grants are intended to explore what gaming can do for health and fitness, and they include an innovative study at the University of Vermont College of Medicine, which received a $189,772 grant from the Fo

Here's a story that ran in this morning's Orlando Sentinel. Way to go Florida team! And way to go Orlando Sentinel. I've been writing to reporters at the Sentinel for years. I'm so glad they picked up the story when we were in town! It might be nice if HPS'ers left some nice comments in the comment section. Let them know what a difference that coverage can make! OrlandoSentinel.com Puerto Ricans at higher risk for rare, dangerous form of albinism Jeannette Rivera-lyles Sentinel Staff Writer June 26, 2008 As a child, Debbie P�rez's nearly white hair, fair skin and pale-blue eyes made her stand out among her Puerto Rican family members.Little did anyone know that the differences went beyond appearance. It wasn't until P�rez was an adult that she was diagnosed with a rare -- and potentially lethal -- form of albinism called HPS (Hermansky-Pudlak Syndrome) that affects Puerto Ricans at a much higher rate than any other group. "I bruised very easily and had

Here's another press release I thought many of you would find interesting. I used to constantly use talking books from the Library of Congress. But, to be honest, the cassettes, or even worse the records, are so combersome now that I haven't used the service in several years. I can't even find any place that can repair my four-track tape recorder. So, I'm very glad to hear the books are going digital. Ideally, they could be made available online to download. Now, wouldn't that be cool!!!! We'll see what happens - you know how legislation works - it isn't over until the guy in the White House says so, and then even sometimes it isn't a done deal. I suspect that with Mrs. Bush being a former librarian, however, that they'll likely smile on this effort. I'd like to think so anyway. 6/24/2008 FOR IMMEDIATE RELEASE CONTACT:Christopher S. DanielsenPublic Relations Specialist National Federation of the Blind(410) 659-9314, extension 2330(410) 262-1281 (

Last night I talked to Donna to get an update on how the Florida outreach was going. The answer is VERY WELL. Donna said that she felt like if she turned around right then and left that already the week had been worth all the work, and they weren’t even half finished. When I spoke to her they’d already had four doctor/medical personnel sessions where Kevin and Dr. Markello presented. They averaged about 38 to 40 attendees at each event, except for the one last night that had a turn out of 58! The group was also interviewed by La Prensa (sp?), the local Spanish language newspaper. An article is supposed to come out Thursday and then another follow-up article the following Thursday. Today they had more medical meetings as well as an interview with the Orlando newspaper. Telemundo was planning to follow them around today as they worked on outreach. Thursday evening is the big patient event. I can hardly wait to see how that goes and how many people attend. While it is an HPS-related event

Last night I spoke with Janet. She was having a little more trouble than she’s had the past few times I’ve talked to her. They’ve got the blood infection pretty well taken care of, it sounds like, but the infection has caused some fluid to build up around her new lung. Yesterday they had to put a tube in to drain some of it off. Janet wasn’t thrilled, but as usual she always looks at the up side. She’s definitely a cup half full type person. But, this means she’s still in the hospital. And it means she had to go back on some oxygen while they resolve this fluid issue. She was coughing more last night than she has since I’ve talked to her post transplant, but she said that’s a good thing – it means she’s getting the stuff out of her lungs. The good news is they kicked her out of the ICU so now she’s in a regular hospital room. That’s progress!

Have you ever wondered what DNA looks like in a test tube? According to Richard Preston, it looks like clear snot. What an image! I’ve been reading a book by Preston that I’m really enjoying. For those that know me, and how little precious time I have to read (essentially on the bus to and from work if I don’t have too many HPS phone calls to make and my eyes aren’t too tired, and it’s not too bright outside) – if I say it’s worth the time, I think it’s good. Grin. The book is called Panic in Level 4 and is essentially a collection of behind-the-scenes stories about various things Preston, a science writer, has covered over the years. Among them, there’s the story about the time he got to visit a Level 4 biohazard lab (the place where they study things like Ebola) and his “space suit” came open. Or the story about a rare genetic syndrome where people feel an overwhelming compulsion to actually try to eat their own body parts. Or, the twins that built a super computer from mail order pa

The following article ran on the Associated Press wire yesterday. I'm posting it mainly as an update. There are also several regulation changes that have been proposed. There's a great government Web site if you're looking for more info on ADA or any regulatory changes etc at www.ada.gov . Who knows, maybe soon I'll actually have a chance to wade through some of this and read it for myself! House to improve accessibility for handicapped By STEPHANIE S. GARLOW – 18 hours ago WASHINGTON (AP) — House leaders announced Monday that they plan to install wheelchair lifts in their chamber so that people with disabilities will have access to the speaker's podium. The renovations — which will allow people in wheelchairs to reach the speaker's rostrum, where the leaders of the House work — are expected to be completed next year. "Our commitment to a barrier-free workplace sends an invaluable message to all Americans that the House will lead by example," Speaker N

Those of you that were at conference this past year will remember meeting Elsie M. We've been calling her New Jersey Elsie so as not to confuse her with Florida Elsie. Grin! Well, New Jersey Elsie needs our prayers and support. Her son has been in an accident and has lost the use of his legs - at least for now. Below is the article that appeared in their local paper. Pray for their family, for her son, and for Elsie. She's got a lot of medical problems of her own and this will make it even harder for her to deal with them. I wish I was in New Jersey so I could give her a big hug! 'I will walk again' Paralyzed since storm Thursday, June 19, 2008 By CHARLES HACKJOURNAL STAFF WRITER \ It was a promise, not a prediction. "I will walk again," Victor Muniz, 22, of Kearny, said yesterday during his first day of therapy, just six days after he was paralyzed from the waist down when a tree fell on him near his home during a sudden storm. Muniz anticipates nine months o

Another cute picture from Sara - Thanks Sara!!!!

Ever wonder how much your blood is really worth? Or, (as I did) ever wonder how much that yellow bag of blood platelets really costs? This ran in the Kansas City Business Journal on Friday. Being that I've had probably more than my fair share of blood transfusions and platelet transfusions during my lifetime, I found it very interesting. Increased testing fuels blood's accelerating costs Rising prices make $4 gas look anemic by comparison Kansas City Business Journal - by Rob Roberts Staff Writer Dave Kaup KCBJ Dr. Jay Menitove, executive director and medical director of the Community Blood Center, chats with Dan Hiatt, the first donor of the day. CBC's costs have tripled the past 10 years. View Larger If you think $4-a-gallon gasoline is pricey, imagine refueling with a fluid that costs hundreds of times more. The Community Blood Center of Kansas City 's hospital clients are paying more than $2,600 a gallon for red blood cells, somewhat less for frozen plasma and subs

I haven't had the time to blog about the new changes being suggested for ADA, or to properly research them for that matter. But, one area that does start to bug me is the lack of public accessability when it comes to technology. This article in the Austin Statesman makes some great points. Check it out! In my mind if we're going to make changes to ADA, these are some of the things that should be on the table. As personal technology explodes, deaf and blind people feel left behind By Kim Hart THE WASHINGTON POST Monday, June 23, 2008 WASHINGTON — Olivia Norman's fingers fly across her laptop keyboard, dexterously tapping out instant messages to friends and entering search-engine queries without committing a single typo. A minute later, she's listening intently to the voice cues that help her read e-mail and send text messages on her smartphone. Norman is blind, so the cues help her navigate the tiny keypad and understand the words on the screen. She can't order an on

I ran across this article by Dr. Gahl that is sort of an update to the journal article I have in my own files that's an overview of HPS. I'm only including the link because it is so long, but it gives a great overview, as of 2007, of all the HPS gene mutations, complications etc. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&partid=1287

Here's a picture of Ryan and Sara on their trip to California. Sara sent me a few pics last night. They're so great! Aren't they a cute couple!

Here's the latest update on the 100 People Search. This week we added one new person to the database, so we're currently at 93. I'm really hoping we make a nice dent in that next week.

This is going to be a big week for Hermansky-Pudlak Syndrome. As many of you already know, HPS is most common in people of Puerto Rican background – 1 in 1,800 births actually. It’s one of the most common genetic disorders on the island of Puerto Rico. The HPS Network is undertaking some saturation outreach efforts, one community at a time, in areas with a large number of people of Puerto Rican background. The greater area around Orlando has the third largest Puerto Rican population outside of the island its self. We all owe Hilda, Elsie and Debbie a huge debt of gratitude. This team has undertaken an outreach effort that’s been amazing. Hilda and Elsie have been working the field while Debbie organizes support from home. Hilda and Elsie have visited every hospital in the region, set up a number of educational events for medical staff etc. They’ve passed out hundreds of HPS brochures. They even started leaving the brochures in hair salons. After all, stylists usually know as much abou

I can't remember if I ever posted this pic or not, and I can't find it in my archive. This was our booth this year at ATS. Donna and I were at sessions, but Ashley, Karen and Izzy were holding down the booth. You'll notice the big picture of Lisa in the back - it was to make a point - that not everyone with HPS is blonde! Grin.

Well, Janet didn’t get out of the hospital on Friday after all. She’s developed an infection in her blood. When I called her on Saturday, I thought that she would be very disappointed that she wasn’t out of the hospital. But, she took it very well. She says she knows she’s been through a major procedure, and that it has gone even better than expected. She knew there would be setbacks and if staying in the hospital a few more days and getting IV antibiotics is what she needs to do, then she’s happy to do it. Go Janet! We actually had a nice long talk on Saturday. Janet is making plans. She’s anxious to hold an event to increase awareness of HPS and she’s anxious to get back to work.

As many of you know, one of our most important legislative outreach efforts is to help promote funding for the National Institutes of Health (NIH). This press release caught my eye. You can see that expanding funding of the NIH won't just help those of us with rare disorders or illnesses that don't yet have effective treatments - it also filters to communities across the United States. Here's the release: Report: NIH and Global Health Research are a Major Boon to All State Economies Families USA WASHINGTON, June 18 -- The National Institutes of Health has a legacy of great medical accomplishments, including victories over diseases like measles, rubella, and whooping cough. Now a report from a national health care advocacy organization reveals how NIH funding to states creates jobs, helps develop communities that are focused on advanced biomedical research, and sustains America's leadership in medical research. Titled "In Your Own Backyard," the report from Fam

I was able to talk to Janet last night. We had a very nice talk. It's so great to talk to her and have her not out of breath, or coughing, or struggling to breathe. They've taken her off the oxygen, although it's still nearby just in case. Janet says that was really scary. She's been attached to that oxygen for dear life for quite a while now and it's a bit unnerving to think it's gone away. I've heard other lung transplant patients say the same thing. Today Janet is getting out of the hospital. She's going to stay in a hotel near the hospital for another week. She says she's also nervous about all the things she has to do now and all the medications she has to keep track of etc. But I know she'll do just fine. She's got so much support and when you talk to her on the phone you can hear the ear-to-ear grin coming right through the phone.

Here's another article I found on the move to revamp ADA. It came from Human Resources Executive magazine. It's always a good idea to understand how the HR folks are viewing these issues and what they're saying to one another. Plus, the article makes some good points Note: The magazine has asked me not to include the entire text of the article, which I'm happy to do. But, as I know several of you repost things from here, I wanted to pass along the request. Collaboration Leads to Revised ADA Bill The proposed law will expand narrow court interpretations that have restricted ADA coverage in the workplace for people with disabilities. It is expected to increase the overall number of disabled people able to request reasonable accommodations, but should not have a significant impact on ADA employment policies already in place. By Tom Starner Since becoming federal law in 1990, the Americans with Disabilities Act has had a major impact on the U.S. workplace. The problem is,

I know several readers are following the hybrid/electric car issue. Some of these cars actually don't make noise, making them hard for those of us with limited or no vision to know they're coming, or tell how fast they're moving. Here's a press release on the next thing happening. FOR IMMEDIATE RELEASE CONTACT:Chris Danielsen Public Relations Specialist National Federation of the Blind (410) 659-9314, ext. 2330 (410) 262-1281 (Cell) cdanielsen@nfb.org MEDIA ADVISORY National Federation of the Blind to Speak at NHTSA Public Meeting on Dangers Posed by Silent Vehicle Technology The National Federation of the Blind, the nation’s oldest and largest organization of blind people, will speak at a public meeting to be held on Monday by the National Highway Traffic Safety Administration of the Department of Transportation on the dangers posed to the blind and other pedestrians by silent engine technology used in new vehicles, such as hybrid automobiles. Date: Monda

Blog reader Veronica sent me the following article and I agree, it's definately worth posting and it's definately something we should be educating ourselves about. I have a few thoughts, but I'm on deadline so I'll share them with you all later. For now, here's what's going on. Published in the New York Times Sweeping ADA update would affect millions By ROBERT PEAR The New York Times WASHINGTON — The Bush administration is about to propose far-reaching rules that would give people with disabilities greater access to tens of thousands of courtrooms, swimming pools, golf courses, stadiums, theaters, hotels and stores. The proposal would substantially update and rewrite federal standards for enforcement of the Americans with Disabilities Act, a landmark civil-rights law passed with strong bipartisan support in 1990. The new rules would set more stringent requirements in many areas and address some issues for the first time, in an effort to meet the needs of an agin

While there is no connection between diabetes and HPS, sometimes there are a few HPS'ers who find themselves on steroids for a long time and thus develop a problem with blood sugar that must be monitored. Often this is temporary. Last night I was thinking of a particular HPS'er who has developed this problem and then this morning came across the following review of talking blood sugar monitors from the National Federation of the Blind. So, I thought I'd post it just in case anyone else found it useful. Talking Blood Glucose Monitors Blood glucose monitoring is an important part of your diabetes self-management plan. Your numbers can show you the effect of food, activity and medication on your blood sugar. Also, checking your blood sugar can confirm when it is too low and you need to take action. Your healthcare team will use the blood sugar numbers you gather at home to determine if changes in your treatment plan are needed. If you have experienced vision loss, you may find

If you live within driving distance of Orlando, and you've ever wanted to know about Hermansky-Pudlak Syndrome, here's your chance. The HPS Network will be in Orlando along with several experts from the National Institutes of Health. HPS testing will be available onsite on a first-come, first-served basis. This is a unique chance for anyone in the albinism community to learn more about HPS and get tested if you like. Don't miss it! Contact: Elsie Gonzalez, Regional Coordinator, HPS Network Inc. at 407.454.9891 or Debbie Perez at 407.855.3111. Donna Appell, President, HPS Network, (800-789-9477), Hilda Cardona, RN at 301.974.7108 Date: May 21, 2008 FOR IMMEDIATE RELEASE The Hermansky-Pudlak Syndrome Network sponsors the First Annual Conference for people with HPS/Albinism in Central Florida. Orlando, Florida – The Puerto-Rican Chamber of Commerce of Central Florida and the Florida Hospital Church are helping the Hermansky-Pudlak Syndrome Network to promote awareness about a

Today I thought I'd just re-post the e-mail Janet's husband sent to the HPS adults listserv today. Janet gets better every day! From Anthony: Hi everyone, Janet has had her final chest tube removed this morning. We are getting closer to her release date and we are kind of nervous about being on our own. There is a lot for us to remember in terms of medication regimen and the changes in our lifestyle. Also, very soon Janet will be breathing all on her own for the first time since July. Our transplant coordinator (and my new best friend) was right when he said that Janet would be nervous about giving up the oxygen. I had a similar predicament myself a few years back when my lung collapsed, but nothing like what Janet has had to go through, so I can sort of relate to her apprehension. Only someone who has pulmonary fibrosis can understand what having a total lack of oxygen does to a person. I can't wait to tell everyone when she is finally breathing on her own. She is re-learn

I talked to Janet this evening. It was so much fun. She always makes me laugh! Tonight Janet’s voice sounded like it did before. She’s down to one liter of oxygen and says she can’t stop smiling. Janet said she spent a lot of the day talking on the phone because it was so good to talk on the phone without getting out of breath. She also went for a walk around the hospital and took some lessons on how to manage her new medication schedule. Her blood sugar is off so she’ll have to take insulin. I’m not sure if that’s a permanent problem or not, but if I had to hazard a guess, I’d say it’s a result of the steroids and other meds she’s probably on. It is so good to Janet. Tonight she’s talking about when she goes back to work. The other great news is that Janet donated her explanted lung to the NIH and it arrived safely to be used for research. That meant a lot of Janet, and it’s a great gift to all of us. I know I’ve said this before, but tissue donation is important to the research. Some

I’ve been very good about my CPAP, at least as good as I can be. But, my face is starting to show the evidence of my good behavior. I now have four bleeding sores on my face where the mask hits against the skin. My face actually feels sore. A few friends that also have sleep apnea have suggested some mask options. The only problem is I only get a new mask from my insurance every six months. If I get a new mask that doesn’t work out well for me, than I’m stuck. Groan.

Many of us in the low vision community are familiar with the Kurzweil reading machines. But, personally, I was never aware of Ray Kurzweil’s life story, or of his publications. Last week I heard him interviewed on Science Friday about his book The Singularity is Near: When Humans Transcend Biology. I guess the book came out in 2005, but I hadn’t been aware of it. Now I want to read it. Check out the radio show and information about the book at: http://www.sciencefriday.com/program/archives/200806064

Janet called me this morning. She wanted everyone to know she's doing well. She might even get out of the hospital late this week. If she does, she'll stay in a hotel near the hospital for at least a week. She and her family will take some training on her medications etc. Her voice was higher pitched than normal so I didn't recognise her right off. She says she's down to level three on the oxygen. It was so good to actually hear those lungs working!

Before everyone gets all excited - the baby in the picture isn't Ryan's - grin! It's Sara's nephew. But don't they all look cute together?

Janet is doing extremely well. We just got an e-mail from her husband. Today she is eating solid foods and took a walk around the nurses station. Her transplant was just on Tuesday, so we're all thrilled with her progress. The family will have to stay with Janet in Wisconsin for probably a month while she recovers. You can still help them out with those expenses that aren't covered by insurance on the right side of this page. Thanks everyone for supporting Janet.

I have a Google Alert set up to let me know whenever there's a news story posted containing the word "albinism." I get all kinds of stuff, most of which I don't pass along here because it has nothing to do with Hermansky-Pudlak Syndrome. This story also has nothing to do with HPS, however, it is so appauling that I wanted to bring it some attention. It's been all over the internet. I've seen it on dozens of blogs - thus it took me a while to track down the actual, credible, story. This story appeared in the New York Times. There's also some video if you want to click through to the actual story at: http://www.nytimes.com/2008/06/08/world/africa/08albino.html?_r=1&sq=albinos&st=nyt&scp=1&pagewanted=all This story will give you a little bit of perspective about living with albinism in the United States. Albinos, Long Shunned, Face Threat in Tanzania Guillaume Bonn for The New York Times Men waited for help at the Tanzanian Albino Society offi