Living on the frontlines

Oct. 1, 2011 Contact: Donna Appell, President and Founder, HPS Network, (516) 922-4022, or e-mail: dappell@hpsnetwork.org FOR IMMEDIATE RELEASE Yang Zhou wins grant from the HPS Network and ATS Foundation Oyster Bay, N.Y. – Dr. Yang Zhou, associate research scientist working in Dr. Jack Elias’s lab at the Yale University School of Medicine, has been awarded a grant from the Hermansky-Pudlak Syndrome Network (HPS Network) and the American Thoracic Society Foundation. Dr. Zhou’s project will investigate a potential biomarker and therapeutic target of pulmonary fibrosis, which may one day lead to better diagnostic and treatment options for patients. Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that causes albinism, a bleeding disorder, and in a subset of patients, other health problems such as a Crohn’s-like digestive problem and pulmonary fibrosis. Pulmonary fibrosis is a scarring of the lungs. In patients with HPS, it is ultimately fatal, t

The Mystery Diagnosis episode featuring Hermansky-Pudlak Syndrome and Karen Tillman’s story has aired in the Slovak Republic in Eastern Europe. The episode contains about five minutes of footage not shown in the American version. If anyone sees this episode in Spanish, please let the HPS Network know! We’d love to have a copy in Spanish! If you’d like to see the Slovakian version, go to: http://www.youtube.com/watch?v=X97p18Hta9Y&feature=share

True to my new plan, here’s the medical update for the week. It was a week ups and downs. On the whole, I felt good. I only had “bowel issues” two days this week. They had more to do with the frequency of visiting the “throne room” than anything else. I didn’t have any cramps. Despite these problems, I only had one severe fatigue day yesterday. It was more likely due to a rough night Wednesday/Thursday than anything else. For some reason, my acid reflux was particularly bad that night. Even with the pressure of the CPAP (which eventually had to be abandoned that night because of coughing), stuff was “coming up.” I can’t imagine what triggered it. I didn’t eat late and hadn’t eaten anything that I know is bad for my reflux. Code browns were a bit of a problem this week. I had one leak in public and had to beat a fast retreat home. Thankfully, I was only a few blocks from home. Had I been farther, I might have been in real trouble. On another day I had four leaks and

This is another something that comes across my desk every year, and I LOVE to pass along. You don't have to have Hermansky-Pudlak Syndrome or Chediak-Highashi Syndrome or albinism to enter. Anyone in high school can enter. Good Luck!!!! Dear Colleague, The American Society of Human Genetics (ASHG) announces its 7th Annual DNA Day Essay Contest for high school students from across the United States and around the world. You may recall that DNA Day commemorates the anniversary of the publication of Watson and Crick's seminal paper proposing a double-helical structure for DNA. We have substantially increased the value of the awards for 2012. Students are eligible for cash prizes of $1,000, $600, and $400 for first-, second-, and third-place, respectively, and $100 for honorable mention (10 awards). Teachers of winning students will receive lab equipment grants of equivalent value. We invite you to submit up to six of the best essays your students write. Also, beca

HPS Network Regional Coordinator Karen Tillman will be honored by Moses Cone Hospital on Sept. 27 th for volunteering more than 2,000 hours at the hospital. Tillman has served on the hospital’s volunteer board, produced its volunteer newsletter, and spent many hours working at the discharge desk. She will be honored, with other awardees, at a gala dinner.   Tillman has been able to use her connection with the hospital to outreach for HPS.

Photo by Tommy Tillman - Nancy (in the red) and her daughter Jessica. Our facebook and twitter followers, as well as our Yahoo! group members, are already in the loop about this, but I have to brag! Nancy Lee, a long-time member of the HPS Network Board of Directors and a long-time member of NOAH, got her lung transplant this past Friday evening. It’s the eighth HPS lung transplant that I’m aware of, although they are getting to be so common now, perhaps there have been more! Nancy and I were both in the HPS Pirfenidone study for the pulmonary fibrosis of HPS at NIH. I’ve known her for years. She’s always been an inspiration to many HPS’ers because she’s always been so healthy. Even as her lungs began to fail, Nancy remained a go-getter! She’s continuing the trend making it off the vent and out of ICU in record time! She’s having a bit of trouble with the swallowing test today, but I’m sure that will be quickly overcome. Nancy still has a VERY LONG road to go. Getting new lu

It’s the final push for the fiscal year. The HPS Network is a charity at www.goodsearch.com. Supporters can earn money for the Network with every online search they perform on this search engine (excluding image searches.) The site also has an online shopping mall at www.goodshop.com. If you visit major retailers going through this site, a percentage of your purchases will be donated to the HPS Network. Goodsearch only sends a check once a year. Help us make the most of the last five days of the fiscal year and search for the cure!

Spending just a few minutes a day, you can help raise money for the HPS Network without spending a dime! Facebook Causes has teamed up with advertisers to raise money for non-profits. If you go to the HPS Network Cause Page, http://www.causes.com/causes/26257-hermansky-pudlak-syndrome#, there will be a pop-up advertisement. If you watch the ad, you’ll earn money for the Network. These donations are small, but if all 1,035 of our Facebook followers did this once a week, and got five friends to do the same, the funds would quickly add up!

We are slowly working our way through some of the new people leads from Puerto Rico.  A number of them are still waiting to hear about their diagnosis. We have been able to confirm three new people so far though, so that puts us at 85 to go on the Hundred People Search! Please keep up the outreach. I'm finding some HPS friends on facebook that are not registered with us. Please, if you have HPS, register with the Network so we can count you. There's no fee or obligation. We just need to prove to the world that we're out here!

I had such a good time with my friends Echo and Karin, and a new friend, Ben, at the RenFest. Of course, you know me. I love playing with my camera.

Last year, after the HPS Conference, several of us went on a sight-seeing trip of New York City. After the conference, I started posting pics from that trip. As time went on; however, I got busy and never got to finish posting pics from the HPS Conference, or the HPS "playdate in NYC" and now even the HPS Conference in Puerto Rico. A girl can keep trying though!   Candice and Crystal sharing some excellent New York cheese cake - yummy!  I love this pic. Here are Ashley and Mervin on the train. And there's good old mom poking her head through the crack of the seat to say hello! I think it's a stitch!  Awe, the couple themselves!  I love this pic of Candice and Crystal. We're visiting NBC and they're sitting in front of a window looking over the ice rink in NYC.  And here's our friend Michael from the UK! We went to this restaurant that was sort of like a haunted house. Mike has quite the sense of humor! Here's he's kissing one of the decorat

Regular readers know about the documentary “RARE.” For several years a film crew from the University of Stanford Medical School’s Bioethics department followed us through our drug trial for Pirfenidone. We were hoping that the documentary would be accepted into the Hampton Film Festival. Unfortunately, we learned this week it didn’t get in. How is that possible! Okay, I know I’m bias – but every time I’ve watched the film with others, they’ve been very moved. There’s also the fact that I’m so anxious to get the film, “out there.” I want to use it for fundraising and outreach. Still, I do believe that God does things in his timing. The truth is the weekend of the Hampton Film Festival couldn’t have been worse for us. Not only do we have one of our largest fundraisers happening that weekend, but we have an outreach at the American Academy of Pediatrics. Our attention would have been divided. So, perhaps it wasn’t meant to be. Another festival at another time w

One of the things I do at the Hermansky-Pudlak Syndrome Network is a lot of listening. It’s often listening late at night, well after little ears are in bed. It’s one of the reasons I get a late start on my workday. You’d get up at 9:00 am too if you were regularly up past 1:00 am! Grin! Sometimes themes develop during these very private, heart-to-heart chats. I feel like I can blog about this because it was shared by more than one person – several in fact. One friend summed it up perfectly. “You know what makes HPS different than so many other health problems?” she asked me, “It’s that even if you’re healthy, if you have a type of HPS that you know causes pulmonary fibrosis, you know it’s coming. Even if you’re lucky and it doesn’t show up until your 60s or 70s, you know it’s coming.” I could so well identify with her. This is an issue I suspect will arise in medicine more and more as we learn so much about human genetics. Someday it will be common p

It’s Tuesday, and we’re already three days into Pulmonary Fibrosis Awareness Week (Sept. 18 – 24, 2011). I’ve been completely swamped in HPSland (all good stuff) and I haven’t even had a moment to blog about this. For those who don’t know, pulmonary fibrosis is a scarring of the lungs. It happens for a number of reasons. Some people get it because they were exposed to toxic chemicals or radiation. Some people get it (like me) because of a genetic mutation. And for most, they have no idea why they have it at all. As the lungs start to scar, it makes it harder for them to expand and contract as you breathe. So, naturally, breathing becomes increasingly difficult until eventually you pass away. I have pulmonary fibrosis as a result of Hermansky-Pudlak Syndrome or HPS. Pulmonary Fibrosis Awareness Week is a chance for all of us, no matter why we have PF, to generate greater public awareness of the disorder. Greater awareness in general means better diagnosis, mo

I used to post a health update weekly. I haven’t done it in a long time. When I was in the drug trial, it was part of the story. I had to keep a journal for the NIH, and blogging made it easier. Now, I seldom post about how I’m doing. I don’t want to whine. When you live with a chronic illness, you live in a kind of Catch-22. If you tell people (when they ask) how you actually feel or are doing day-to-day, they get sick of hearing it. They grow tired of hearing about a problem they can’t help with or fix. They start to think of you as a hypochondriac. On the other hand, if you always reply, “I’m fine” no one really understands you or your life. If you have a lot of health issues, you get very good at looking perfectly fine, even when you’re not. To have a life, there are just some days where you just have to do your best to push through. I don’t know how to resolve this issue. No matter what I do, it seems I can’t win. The other day, however, while listening to a news re

These are more pics of the kids that attended the HPS Conference in Puerto Rico. At one point, there were two clowns brought in to entertain. They did an awesome job!

This is one of my most recent paintings. It's a close up of sunflowers. Lately, I've been a little intrigued by the compositions one can get, the interesting shapes and textures, when you look at the world close up (as I often do because I don't see well.) This painting is for sale - $40. For now, it's for sale for the Heather-needs-to-pay-her-increasing-health-insurance-bill fund and not the HPS Network. Since I sell so much of my artwork for HPS, just wanted to be clear about that. This painting is on board canvas and measures a foot by a foot. It's painted with acrylic. Enjoy!

The following link is for a Webcast given last week. It was co-hosted by the Coalition for Pulmonary Fibrosis and the American Thoracic Society. It's about clinical trials for pulmonary fibrosis. I must preface this for those with Hermansky-Pudlak Syndrome. For reasons I must admit I don't always understand, we are usually excluded from these trials (a debate for another time). However, this news is very exciting because if any of these drugs shows promise, it could very likely be used to treat us as well. I find it hopeful just to know there really are people working on treatments every day! This webinar also explains how pulmonary fibrosis works very well. Enjoy! http://patients.thoracic.org/lung-disease-week/pulmonary-fibrosis-week/webinar.php

Just a few pics from the HPS Puerto Rico Conference. More to come......

The HPS Network Puerto Rico was covered by a number of media outlets in the weeks leading up to the HPS Puerto Rico Conference on Caguas. Not only did the coverage help promote the conference, but representatives of the Network were able to use the coverage to educate the general public about HPS. The media coverage was kicked off by an appearance by Ivette Vazquez and Yeidyly Vergne on Radio Hits 1250 am. The show is co-hosted by Yary Rivera, a member of the HPS Network. Univision Puerto Rico News covered HPS and the conference in a two-day report. Dr. Enid Rivera (Hematologist), Ricardo Rangel (President of HPS Network PR, Inc.), Ricardo Rangel Jr., Germán Acevedo, Yary Rivera, Milca Lopez, Daniel Jimenez, Learsy Martínez and Yeidyly Vergne appeared in the report to talk about HPS and the conference. Finally, HPS and the conference were featured on two different local TV programs on Puerto Rico channel 13 (“Tele-Oro”), “En Cuerpo y Alma” hosted by Dr. Natalio Isqu

Leslie Feldman-Rumpler, a friend of HPS’er Rebecca Rosado, ran the Cohasset Triathlon in Boston in honor of Rebecca. Leslie says she is inspired by Rebecca’s experiences as a successful lung transplant recipient. She ran the event to help raise money for continued research into the pulmonary fibrosis of HPS. Thank you Leslie!

I love hanging out with the kids at the HPS Conference in Puerto Rico. When you're playing games, there are fewer language barriers.