Living on the frontlines

It's been two weeks since we really did a 100 People Search update. Things have been busy, but what else is new. We actually have two new HPSers, one child and one adult. That means we're at 94. We also have several families currently testing. This week I also found a case report just released in a journal about a 10-year-old boy that has been diagnosed in Hong Kong. I mention it only because so often when HPS'ers that are not of Puerto Rican background try to get tested, they are often dismissed. That is four people that I know of that have tested positive for Hermansky-Pudlak Syndrome that are of Chinese background.

This photo is of the Breathing Better event hosted by the Public Advisory Roundtable of the American Thoracic Society - the photo was taken by the show's official photographer. On Saturday, before the “guts” of the American Thoracic Society conference got underway, the ATS Public Advisory Roundtable held a special forum for patients. The theme of this year’s forum was pulmonary rehabilitation. It’s a topic that all people with lung diseases can benefit from – and it’s unfortunately a topic that many of us remain woefully uneducated about. Donna Appell, the HPS Network President and Founder, is also currently the President of PAR for the ATS and thus was responsible for organizing this event. It had a wonderful turnout. Karen and I were a bit late to the event because our flights didn’t get in until around noon. But, I learned a lot from the part I was able to attend. I think the most important thing I learned was that being out of breath is really okay. I don’t mean the sort of ou

This is a pic taken by ATS's official photographer. Here the doctors are coming and going from meetings. It really is a big meeting!

Here's a pic of Ryan with his girlfriend Sarah. I got to meet Sarah when I was at NIH. She was very nice. I'm very glad Ryan has found such a nice girl! Grin! They've been going out several months now, so we'll see what happens. They seem to fit together very well.

When Lisa volunteered for a lung lavage for research, it meant that she had to go to NIH on her birthday. Ryan's girlfriend Sarah brought a birthday cake darecorated with little chocolate chips. We saved a peice for Dr. Markello who was staying late to do my sleep study. He quipped, "Oh look, it's got dense bodies." (Referring to the way Donna explains HPS platelets.)

Happy graduation to Matt and Kathryn. Way to go! Both Matt and Kathryn have battled the GI issues of HPS while going to school. I know how hard that can be. I was also in college when my GI issues surfaced for the first time. It can be a struggle to keep up with your studies when you don’t feel well often or are often fatigued. Hats off to both of you, and best of luck entering the working world. I know you will both go on to do great things.

One of the things I've always wanted to do with this blog is archive the stories of others with HPS. I've wanted to do this for several reasons. First off, we can learn so much from each other's stories. Second, it's a way of documenting our history. Third, these stories come in handy when doing educational sessions or outreach. They put a face on the medical facts. Ana recently wrote her story down and sent it to me. Here it is: As a child I always had numerous bruises on my legs and arms, where I bumped into things. I burned easily in the sun, and had trouble seeing in the bright sunny days of the Caribbean Island, where I grew up, Puerto Rico. But it was not until around 1998, when I was to get the earth-shattering news that I had a disease for which there is no known cure. I learned that I had tested positive for Hermansky-Pudlak Syndrome. My world was turned upside down as I was now the mother of a three year old daughter with no family support whatsoever. The pros

I just wanted to send out a great big BRAVO! to Angels in Voice (Candice and Crystal) on their fundraiser last week. They gave a concert (how I wish I could have been there in person) and raised more than $2,500 for the HPS Network. Way to go! Thank you Candice and Crystal, and thank you to all of your loyal fans and supporters. If you don’t know Angels in Voice, check out their blog at www.angelsinvoice.com . They have a new CD out by the way! And it’s awesome!

Mark your calendars now! The third annual HPS Family Conference Puerto Rico will be held Aug. 23 at the Coliseum Pachin Vecins in Ponce. We’ll pass along more information as we get it. Start planning to be there and hear the latest on HPS research as well as have a chance to network with other affected families.

Those of you who have been to the NIH have likely had a chance to meet some of the students working in Dr. Gahl’s lab. He usually brings them around in a hoard on Thursday mornings. They stand around and Dr. Gahl tells them all about HPS, usually throwing in a little social history about whichever of us happens to be there that day. I love meeting the students. I’ve always loved meeting medical students. It’s one of the things I miss about not going to KUMed anymore. I miss the young and nervous medical student that always appears in the exam room first to ask me what I’m there to complain about. I see them as the future. They’re the ones who will have a chance to be in the know about HPS for an entire career. They’re the ones who will keep this research going into the next generation. We need to inspire these young students and let them know how much we appreciate them. To that end, last summer (I think it was last summer) there was a particularly brilliant young woman working in Dr.

This article is from U.S. News and World Report. Drug for Deadly Lung Disease Shows Promise Idiopathic pulmonary fibrosis kills 40,000 Americans each year Posted May 23, 2008 By E.J. MundellHealthDay Reporter FRIDAY, May 23 (HealthDay News) -- Patients with a progressive fibrosis of the lungs that's fatal within a few years of diagnosis may finally have some reason for hope. Related News Japanese researchers say daily use of the drug pirfenidone improved the lung function and lengthened the survival of patients with the illness, called idiopathic pulmonary fibrosis (IPF). "Patients look to any research in IPF with a sense of hope, because right now, there's very little that can be done for them," said Mark Shreve, founder and chief operating officer of the Coalition for Pulmonary Fibrosis, based in San Jose, Calif. "To say that there's a desperate need -- even that would be an incredible understatement, because you are talking about a devastating, relentless

This week the 30th person in the phase III Pirfenidone trial to treat the pulmonary fibrosis of Hermansky-Pudlak Syndrome was enrolled. Yahoo!!!!! This is a big deal! We’ve been working on it for a very long time. What does this mean? It means that the statistical clock is ticking. We still need 40 patients to complete the trial, however, we have reached the threshold at which we have enough patients to start the clock for the interim statistical analysis. At roughly 18 months, or half way through the trial, the statisticians will review the data thus far. If the patients on the drug are doing significantly better than the patients who are on the placebo, then for the next 18 months of the trial everyone will be put on the drug. That’s great news for those of us that are in the trial. It’s also great news for everyone else because it means we’re that much closer to getting the drug approved (if it works) and moving on to the next step to find the cure. At the American Thoracic Society

FOR IMMEDIATE RELEASE MAY 21, 2008For More Information Contact:Sharon Terry – sterry@geneticalliance.org or 202.966.5557 x201 Iris Maldonado – imaldonado@amplifypublicaffairs.net or 202.263.2580 President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law Washington, D.C. – May 21, 2008 – The Coalition for Genetic Fairness (http://www.geneticfairness.org/) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA). GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings. “This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY). “Since all of us are predisposed to at least a few genetic-based disord

I was able to put up a few short tidbits earlier in the week because magically I was able to find a free wireless network in the hotel room. By the second day, however, the free wireless had been quashed and they wanted $20 a day to let me connect. Considering how little time we had in our hotel room, and how tired we were when we were there, it didn’t seem worth it. So, now that I’m on the way home, I’ve got to catch up. This week myself, Donna, Karen T, Ashley and Izzy went to Toronto to participate in the meeting of the American Thoracic Society or ATS. ATS is made up of both thoracic doctors (clinicians) as well as bench researchers. It’s a great place to network to both educate the doctors about Hermansky-Pudlak Syndrome as well as hopefully facilitate moving the science its self forward. More than 16,000 doctors and scientists from around the world attended. We had a booth on the show floor. The traffic was very good this year. Among the visitors that stand out in my mind are thr

FOR IMMEDIATE RELEASE May 21, 2008 Contact: Donna Appell, President and Founder of the HPS Network, 1 (800) 789-9477 HPS Network applauds signage of the Genetic Information Non-discrimination Act Oyster Bay, NY – The HPS Network commends the passage and signing of the Genetic Information Non-Discrimination Act (GINA). GINA will allow patients with HPS, as well as millions of others with genetic disorders, to seek out diagnostic testing without fear of retribution from employers or insurance companies. Often patients are reluctant to be tested for a predisposition for genetic disorders like HPS because they fear increased insurance premiums or being unable to get insurance at all. For patients with HPS, not being correctly diagnosed can be dangerous. HPS is a rare form of albinism that causes legal blindness, a bleeding disorder and in some mutations digestive problems as well as pulmonary fibrosis. The bleeding disorder of HPS can easily be managed if patients and their physicians are

Note: I actually wrote this yesterday. Today was a big day! I wish I wasn’t traveling so that I could be monitoring the coverage and working the phones to try to get us a little press. Today President Bush has signed the first piece of national civil rights legislation for the new century – the Genetic Information Non-Discrimination Act. While those of us with existing diagnosis might still find it difficult to get insurance coverage etc. at least there is now no reason to fear genetic testing (other than typical emotional responses to negative results). Now people can freely seek genetic testing that can result in early diagnosis and hopefully early treatment with better results. Now, there is no need to be afraid of seeking genetic testing that might help people find appropriate clinical trials – and thus hopefully science as a whole will be propelled forward for all sorts of genetic disorders. After 12 years in the making, today GINA is a reality!

Here's another peice of exciting news about Pirfenidone just out. It means that if the trials show that the drug is working, the FDA will work to get the approval process underway quickly. InterMune Announces Receipt of Fast Track Designation for Pirfenidone From FDA - Conference call scheduled to discuss Shionogi Phase 3 results on pirfenidone - BRISBANE, Calif., May 19 /PRNewswire-FirstCall/ -- InterMune, Inc. (Nasdaq: ITMN) today announced that its program for the development of pirfenidone for the treatment of idiopathic pulmonary fibrosis (IPF) has received "Fast Track" designation from the U.S. Food and Drug Administration (FDA). Fast Track is a designation that the FDA reserves for a drug intended to treat a serious or life threatening condition and one that demonstrates the potential to address an unmet medical need for the condition. The FDA takes appropriate actions to facilitate the development and expedite the review of the approval applications for fast track

This is a report on one of the sessions that took place at the American Thoracic Society meeting. The Japanese trial is actually somewhat ahead of the trials in the United States - both the IPF trial and the HPS trial. It's so great to hear that the drug appears to be having some effect. While at the booth a doctor almost came bouncing by to ask what we thought of Pirfenidone. "Do you think it works?" he asked. "I hope so!" I answered, "I've been part of the clinical trial for 20 months." He looked a little surprised. I don't think he was expecting to find a patient for some reason. Anyway, thought you all would be interested in the results. I sure was! New treatment option for idiopathic pulmonary fibrosis Published: Tuesday, 20-May-2008 Medical Research News Patients with idiopathic pulmonary fibrosis (IPF) may have a new treatment option, according to researchers in Japan. In a Phase III, double-blind, placebo-controlled clinical trial, t

I wasn't able to get wireless access the last few days I was away at the American Thoracic Society meeting. I did some blogging on the plane on the way home, but I fell asleep as soon as I walked into my apartment. I didn't even eat dinner! So, needless to say, I'll have to post those entries this evening. In the meantime, thought I'd pass along some of the coverage associated with President Bush signing the Genetic Information Non Discrimination Act or GINA. I, personally, am happy to see this pass, although since I already have an active diagnosis, it might not help me. But, I think it will be a great help to those who suspect they might have HPS, or any other genetic condition (even though the diagnostic test for HPS is a blood test) but don't yet have symptoms. Early diagnosis just isn't a bad thing. Here's a story from the Chicago Tribune. If you go to the story its self, you can leave comments. Genetic information now protected, but watch out President

Our Florida organizers have been working hard these past few weeks and I’ve been wanting to blog about them and send a shout out for a while now. It’s just been a busy week. Elsie and Hilda have been hitting the pavement hard doing outreach to the medical community. They’ve been visiting hospitals, handing out brochures, talking to medical education coordinators etc. It’s been a lot of hard work but these go getters are getting it done. Debbie has been serving as the base camp (she’s at home taking care of her granddaughter). She’s been helping by making lots of phone calls, looking up phone numbers etc. so that Elsie and Hilda can be more efficient. And they’ve made some progress. We have several seminars set up for medical personnel as well as educational sessions with various agencies that work with the blind and visually impaired. It’s been a real grass roots effort and everyone is chipping in. Friday quite a bit of progress was made on the plans for the patient education night on

Calling all those in the New York City area! The HPS Network will once again be marching in the Puerto Rican Day Parade in New York City on June 8th. We need hearty marchers to join us. You don’t have to have HPS to participate. Recruit your friends, family or co-workers. Last year we even recruited a few strangers off the street. But, it really does help us to know who is going to be there. So, if you’d like to join us, please e-mail me at hkdawn@yahoo.com and I’ll put you in touch with the HPS parade organizers. Liz Diaz, who is heading up this venture, advises from last year’s experience that walkers should be prepared to be outside for a long time in the sun. Don’t forget the hats and sunscreen and maybe a bottle of water.

Are you in or near Phoenix? Come hear the Ninth Annual Angels in Voice concert to raise money for the Hermansky-Pudlak Syndrome Network. Candice and Crystal Sipe are the Angels in Voice duet. Both have Hermansky-Pudlak Syndrome. They also have beautiful voices and enjoy doing a mix of popular and gospel Christian music. They also have a new CD out! You can hear clips from last year’s concert on their Web site at www.angelsinvoice.com . Above is the poster for the concert!

For those that live in Kentucky, come out and support the HPS Network May 31st at the National Guard in Owensboro. There will be a rummage sale with lots and lots of cool “stuff” for great prices! All proceeds will benefit the Hermansky-Pudlak Syndrome Network. Contributions are also welcome. You never know what sorts of treasures are waiting for you.

If you have albinism, or a child or family member with albinism, and you live in or near Kansas City, come join a group of us for a picnic in the park, June 7th. We’ll be meeting 11:00 am to 2:00 pm at I-Lan Park, 126th and Null in Leawood. Bring a picnic for your family, and a dessert to share. It will be a casual, lets-get-to-know-each-other event. If you think you might come, e-mail me at: hkdawn@yahoo.com . Since most of you know me from the HPS Network, this is not an HPS Network event. It’s a NOAH event. I’m just helping to get the word out, and I’ll be there too with loads of sunscreen and my big umbrella!

A topic came up for discussion this week on the HPS Adults listserv. What can I say, you never learn everything there is to know about HPS. The discussion concerned getting permanent eye liner applied. Eye make up in particular can sometimes be a little tricky to put on if your vision isn’t so great. Now, some places are offering the option to have eye liner put on for good. But Marisol, one of the women on the listserv, advised that NIH had warned her against trying this. Curious, I followed up with Kevin O’Brien, the nurse practitioner at the NIH that works with HPS adults. Kevin confirmed the warning. It seems that besides the other hazards of things such as permanent eye liner or tattoos, such as getting hepatitis etc., some of the inks used contain metals. This is problematic should you need medical imaging studies such as an MRI. Kevin advised that many MRI places won’t do MRIs on people with permanent cosmetics or tattoos. I’m not an expert on either of these things. Frankly, I

The American Thoracic Society will be in Toronto May 17 to 21st. As part of that meeting there will be a special get together for pulmonary patients organized by the Public Advisory Roundtable or PAR. The event will be from 1:00 pm to 4:00 pm, May 17, at the Sheraton Centre Toronto Hotel, 123 Queen Street West. The meeting will be on the lower concourse in halls B and C. The topic will be pulmonary rehabilitation and there will be both patient and professional speakers. Patients will have a chance to network with one another at the end over snacks. Hope to see you there!

I was disappointed Sunday to not be feeling very well. I was supposed to go to Lyra’s second birthday party. Lyra is a little girl in my area with albinism. Her family and I have gotten together two years in a row to raise some money for NOAH. She’s such a cutie, as are her older brother and sister. I was looking forward to getting out of my mother’s day funk and hanging out in the park with a bunch of kids. But, it seems every time there’s a change in my medication, there’s a sort of adjustment period. I know if it was the medication, or something else, but I wasn’t up to being in a park. My stomach was a bit upset. My joints were hurting and my back hurt right about where my kidneys are. I was bleeding again and felt crampy. So, either this was part of the overall female thing, perhaps adjusting to the IUD and its hormones, or maybe it was because I restarted my study drug. Who knows. Sunday night, however, I managed to keep the CPAP mask on for five hours. Today I felt great! I had

Look out on the runways of Paris! Here I am on the second night of the sleep study. Jackie, the sleep tech, showed Dr. Markello how to make a little "hat" to keep the wires from going everywhere. She also showed us how to make a little "purse" to keep all the wires in so that I could have some freedom before bedtime, and so that it was easier to get up during the night without damanging anything. Isn't it stylish? Grin!

Janet Perez is an HPS'er that lives in the Chicago area. Some of you may know her from the HPS adults listserv. She was diagnosed with Hermansky-Pudlak Syndrome rather late having, unfortunately, never heard of it or it's potential complications. By the time we met Janet, it was too late for her to participate in the research at NIH. She is currently listed as critical on the lung transplant list and has already had one "trial run" for a new set of lungs. Lung transplants aren't easy, and they aren't cheap. Janet and her family are raising money to help with expenses not covered by insurance. I have added a widget to the side of this page for her online fundraiser. As you can see, it does cut off a bit, like some of my other items on the side of the page - yet no matter what I do in the HTML code to fix the size, this keeps happening. I don't want to delay getting Janet's information up while I figure it out. I've never actually met Janet, but we&#

I finally managed to sleep several hours with the CPAP mask on. Dr. Markello would be so proud – grin! The only trouble was it was the middle of the day when I did it. Usually I sleep in late on Saturday mornings, typically from complete exhaustion. But this morning I had an invitation to speak at our local Lion’s Club about Hermansky-Pudlak Syndrome. There was no way I was going to miss that. So I got up very early, attended the meeting, and gave my talk. I think it went well. I think I faked it pretty good as I really wasn’t feeling all that great this morning. When I got home, I decided to listen to the news before digging into the large list of things I had to do. I’ve been working on trying to become more comfortable with this CPAP mask, so I decided to try wearing it when I was doing things like listening to the news. Maybe if I could get used to it, I’d stop tearing it off in the middle of the night. What do you know, but I fell asleep. And I didn’t just nap either. I slept hard

I got great news from my blood work on Thursday. The CK came back down to 65. Yippee! I would have been surprised if it hadn’t come down. I honestly think it was just one of those fluky things. But, because it was high I had to come off of my study drug (Pirfenidone or placebo) this week. Had it remained high, I couldn’t start taking it again. So, I couldn't help but be just a little on edge about it, about the what if etc. So, thankfully, the number is down in the normal range and I was able to start taking my study drug again. It’s funny how you get in the habit of doing something, and then when you stop doing it, it feels like you’re forgetting or missing something. I had to take the pill bottle out of the bag I keep all my meds in just to be sure I wouldn’t take the stuff out of habit.

I'm still unable to post directly from YouTube, but the Tillmans have put up the following video. Check it out, and Celebrate! Grin! http://www.youtube.com/watch?v=F8CYKPz_kHg

Well, I’ve been hanging in there with the CPAP every night. I’ve got little marks on my cheeks now to prove it. I still can’t seem to get through a night though. Well, I do, but I’m up several times a night messing with the mask. Last night I did a new trick. I didn’t wake up once, but when I woke up the mask its self was on the floor next to my bed, and the headgear was still on my head. So, I have no idea how much of the night I was really getting what I needed. Yesterday I went to the doctor to get some blood work and discuss the NIH trip. I’ve been temporarily taken off of the Pirfenidone protocol trial because my CK and CK MB were so elevated the day after my little “surgery.” This is an indication of muscle break down, or so I understand (feel free to correct me – my brain isn’t real sharp today). There seemed to have been some debate about whether it was due to platelets, or whether it was due to laying on my back too long the day of the surgery. At any rate, I’m waiting on my d

Regular blog readers have heard me whine before about my fatigue issues. It’s been a problem since college, and lately, it’s been a big problem. When you fall asleep standing up against a telephone pole at the bus stop and the bus has to honk at you to wake you up, or when you’re falling asleep at your computer at work, there’s a problem. I’d complained to my docs at home every visit for the last year. We did a sleep study a little over a year ago, but how they got any usable data from it I have no idea. I don’t think I slept more than 30 minutes all night. The thing is I have my little night time routines. I’m a night owl by nature. But the sleep lab insisted I go to bed at 9:00 pm. I was wide awake, trying to sleep with all these wires hooked up to me etc. It just didn’t work. And when the nurse came in exasperated at 2:00 am announcing that “if you don’t hurry up and go to sleep they’re going to make you do this again…” well, that pretty much assured no sleeping would happen. It jus

The biannual DelVecchio Garage Sale, a.k.a. HPS flea market was held this past weekend. Marie says they made $795, roughly. That's an aweful lot of nickles, dimes and quarters! Way to go DelVecchio family! Marie has been doing this fundraiser for YEARS! It's a neighborhood event! So, if anyone else out there would like to have a garage sale to raise money for HPS, Marie is a great resource!

One of the other missions of the week during my NIH visit was to get an IUD inserted. I hadn’t blogged much about this, but it’s really been a time issue and not because it’s too personal. Women with Hermansky-Pudlak Syndrome frequently develop problems with their female cycles. We often experience exceptionally heavy bleeding etc. As a younger person this was never an issue for me, but during the last few years it has become worse and worse. There are days when I can bleed so badly that I’m in the bathroom every 45 minutes taking care of business. I can’t sleep through the night without creating a major mess. It can last for days and days, making one very tired. I’ve also noticed in these last few years that my cramps have become increasingly worse. My GI issues can be fine the rest of the month, but suddenly when it’s that time I’m also in the bathroom constantly with an upset stomach. My joint pain gets worse. It’s like being sick for a week or more out of the month. Yet some months

What a week. What is it they say about the best laid plans? This admission at NIH was supposed to be maybe a bit longer than the usual Pirfenidone trial admission, but still pretty simple and routine. And from the perspective of the trial, everything was smooth sailing. It was just all the other things that came up during the week. First the good news. I still continue to do very well on the lung function front – in fact, once again my PFTs were better than they ever were, even before they fell a bit making me eligible for the trial. In fact, they are so good that I think Kevin and the gang might be second guessing if they jumped the gun admitting me to the trial in the first place since the pulmonary fibrosis on my CT scan is so very mild. During my wrap up they brought up the fact that some people don’t try hard on the PFTs when they are being screened in hopes of getting into the trial. They didn’t come out and say they thought I did this, but still, I wonder if they wonder. The thi

Boy do I have a lot to blog about! It's been a very long week at NIH. But, in the meantime, Ryan posted this to the HPS Adults listserv and since I missed the big event, I wanted to pass it along to everyone that's been following the progress of the GINA bill. Congress passes anti-genetic discrimination bill » Links to this article By JESSE J. HOLLANDThe Associated Press Thursday, May 1, 2008; 6:33 PM WASHINGTON -- Congress sent President Bush a bill Thursday forbidding employers and insurance companies from using genetic tests showing people are at risk of developing cancer, heart disease or other ailments to reject their job applications, promotions or health care coverage, or in setting premiums. Bush was expected soon to sign the Genetic Information Nondiscrimination Act, which lawmakers and advocates called "the first major civil rights act of the 21st century." Federal law already bans discrimination by race and gender. "Your skin color, your gender, all of