Living on the frontlines

Matt's parents at lunch The DelVecchio family. Marie is the tag sale diva! This is me eating lunch and picking the brains of Dr. Young and Dr. Markello. And now I'm saying, Hey Tommy, don't take a pic of me eating!!! Grin! Mervin's mom - scrapbooker extrodinare!

My hats off to everyone in Puerto Rico working so hard to make this event happen. Bless all of you! Here's the info for any possible blog readers that might need it - and so that the rest of us in HPSland can cheer on Puerto Rico in all of their hard work and effort. 5ta Conferencia Anual de Albinismo y el Síndrome de Hermansky-Pudlak Date: Saturday, August 14, 2010 Time: 8:00am - 4:00pm Location: Club de Leones de Mayaguez, Carr #2 Description.La Organización sin fines de lucro HPS Network Puerto Rico Inc. se complace en invitarles a participar de nuestra 5ta Conferencia Anual de Albinismo y el Síndrome de Hermansky-Pudlak. Habran charlas educativas, educación contínua para édicos y pruebas de función pulmonar para aquellos pacientes que deseen hacersela. La actividad es totalmente libre de costo. Para más información: Stra. Vergne Coordinadora Asministrativa (787)-313-4643 Esta Actividad se es organizada y coordinada por el HPS Network. La misma es costeada gracias las donaciones...

Last week I was back at the National Institutes of Health for my one-year follow up from the Pirfenidone trial, as well as to undergo a lung lavage to donate lung fluid for research. I don’t quite know how to explain this. Sometimes when I’m traveling to NIH and then home again it feels as though I’m traveling between planets – the planet of real life and the planet of ideal life where everyone understands and no explanations are ever needed or required. When I was working I was always so exhausted that I felt as though I landed at NIH on the verge of completely falling apart. It was the only place I could really go where no one would bother me for several days. Even if I was doing well, there’s something about being “in the hospital” that the non ill people understand as some sort of line of demarcation. It was nice to be at the NIH and not be on the verge of complete and total exhaustion. I was on the placebo part of the study for the Pirfenidone trial, but when the trial was closed ...

Join the Names for the Cure effort to help raise money for the HPS Network. We want to expand our capital campaign database with quality names. Those most likely to respond to a fundraising letter are, of course, the people who know us and love us the most – our friends, family, doctors and co-workers. We will be conducting the capital campaign in December, but we need to get busy expanding the database NOW! Names on the capital campaign database receive no other mailings from the HPS Network (unless they’re on another database, like the membership database). Hey, we’re a charity that can’t afford to waste money filling mail boxes with junk mail! This is the only fundraising appeal we send in the mail from the office and we only do it once a year. Funds go to support the day-to-day running of the HPS Network, publication of the newsletter, support of the Website, scholarships to attend conference and support of HPS research. We keep membership free, which means we’ve got to raise money...

Below is a link to an article that appeared in the Los Angeles Times. This is the same guy who was on the TODAY show. Articles like this help to generate greater awareness of pulmonary fibrosis. Pass them along. http://www.latimes.com/news/health/la-he-my-turn-pulmonary-fibrosis-20100628,0,4182968.story

This evening my friends came over with their kids and they all went swimming in the pool. I couldn't swim, but I practiced using different settings on my camera to take photos of them.

Karen heard from the producers from Mystery Diagnosis. The episode featuring Hermansky-Pudlak Syndrome is scheduled to run on the Discovery Health Channel on Aug. 16th. Check your local listings for times.

Photos by Tommy Tillman - a.k.a Tommer

This is my most recent painting. I tend to paint in a tight manner as if I were trying to do realism, which I'm not - thus I've been working on "losening up" a bit and trying to paint in a more impressionist style. I'm adding this painting to the ones for sale for the HPS Network. It's acrylic on canvas board and is 12 by 12. I'm asking $50.

I’ve needed to blog lately, but unusually, I’ve been putting it off the same way I put off dusting or ironing – there’s always something that seems more important and provides the perfect excuse to put it off. That’s unusual because I actually enjoy blogging very much. Lately, however, there are just some things I’ve started to think about, and then thought better of the idea and simply changed the channel in my brain. Last weekend was my birthday. I had a wonderful birthday with lots of sweet messages from friends etc. I went to dinner with Echo and Karen and Jevon, who I hadn’t seen in ages. Tina J. spent several nights at my house and Tina B. joined us for a day. It was like a teenage slumber party, only maybe a tad bit more laid back. It was a great birthday. As I get older, however, birthdays start to take on a little more significance. Of course as we all age we’re all getting that much closer to the various problems associated with old age – but when you have something like HPS,...

Below is an e-mail I got from Fran. I've been particularly busy this week and just hadn't had a chance to look for this clip myself. I thought some of you would like to see it. We all need to shout from the rooftops - we need better treatments for pulmonary fibrosis. Thanks Fran! Hi Heather, hope you are well, you may have found these links already but here is the Today Show link, and the second one was with Bob O'Rourke speaking on an NBC station in Calif. June 1, 2010 http://www.nbclosangeles.com/station/shows/NewsConference___Deirdre_Roney_and_Bob_O_Rourke__Coalition_for_Pulmonary__Fibrosis_Los_Angeles.html NBC Today Show - June 15, 2010 - http://www.msnbc.msn.com/id/26184891/vp/37703792#37703792 Take Care, Fran

Congrads to Gabe, my buddy in Boston pictured here with his mom. He's all dressed up in a sharp tie to celebrate his fifth grade graduation. Can you believe how fast kids grow up? Gabe is my pill buddy. We race each other to see who can down their meds faster. Gabe's mom is Carmen, one of my HPS friends, co-moderator on the listservs and a member of the board. His dad is Frankie the Cat. Thanks Frankie for the pics.

Unfortunately, I'm just now getting this press release and this aired this morning, but perhaps we can find it on YouTube or on NBC's Web site. As so many of us with Hermansky-Pudlak Syndrome have pulmonary fibrosis (myself included), we can't help but shout from the rooftops together, and be down right thrilled when one of the shouters gets a little press! It still amazes me that we have no treatment for pulmonary fibrosis, a problem that kills as many people a year as breast cancer, and yet gets a fraction of the attention or research dollars. (Not that I begrudge breast cancer anything - they've done an awesome job of promoting their disease.) Pulmonary Fibrosis, CPF, to Receive National Media Attention on NBC'S TODAY Show Via California Man's Desperate Fight for Survival Show to Air Tuesday, June 15th SAN JOSE, Calif., June 14 /PRNewswire-USNewswire/ -- The Coalition for Pulmonary Fibrosis (CPF) announced today one of the first major national media coverage...

Photo by Tommy Tillman

The team filming Karen T.'s HPS diagnosis story is in need of an actress, blonde, with HPS or OCA in the New York City area. They need to reshoot a few scenes from Karen's life when she was about 13 years old, so you'll either have to be a teen, or very, very young looking. They decided the actress they used in Greensboro was too tan after all. This project is meant to generate awareness of HPS. They would mainly be shooting arms and legs. If you think you might be able to help, e-mail me for more info and I'll tell you more - hkdawn@yahoo.com .

The Vision for Tomorrow foundation funds grants on eye research, including albinism. They are having an upcoming fundraiser, so I thought I'd just pass along the information. They are holding a basketball tournament on Aug. 22nd. For more info and to sign up your team, go to: http://www.visionfortomorrow.org/. Go to the Events page for the info.

The HPS community is very saddened by the loss of Donna Appell's dad, known by everyone as "Grandpa." He passed away this past weekend. I'll post the obit as soon as I get it. In the meantime, here's what I know so far. The wake is Today, Monday 06/14/2010 at the Oyster Bay Funeral Home 2-4 and 7-9 pm. The funeral Mass on Tues am at St. Dominick s church. Ashley will be signing the entire Mass. I think Ashley is very brave. I don't think I'd be able to hold it together long enough to sing. The family is asking that instead of flowers, people make donations to the HPS Network in Grandpa's memory. Photo by Tommy Tillman. (Grandpa with Grandma at this year's HPS New York Family Conference in May.)

Many of you may know Yeidyly from the conference. She's on the board of directors in Puerto Rico. Below's text was on the Website of the Public Health Association. Yeidyly had a poster about HPS accepted. Go girl! Yeidyly Vergne , MPH, DrPHc , Public Health Program, Ponce School of Medicine, Ponce, PR Ivan Iriarte, MD, MS , Public Health Program, Ponce School of Medicine, Ponce, PR Hermansky-Pudlak Syndrome (HPS) is a congenital genetic metabolic disorder affecting cell membranes, lissomness, melanosomes and dense bodies of the platelets. HPS is characterized by albinism, bleeding diathesis, granulomatous colitis and pulmonary fibrosis. Puerto Rico (P.R.) is known as the “World's Capital of Albinism” because HPS is more than two times as frequent as in Africa, and about 10 times more frequent than in the continental U.S. This study describes and compares the clinical and epidemiological characteristics of HPS between P.R. and continental U.S. by means of a cross-sectional s...

To thank Dr. Lomax for all of her time on the Mystery Diagnosis project, we gave her a basket full of goodies and an HPS Network t-shirt. Here Karen is thanking Dr. Lomax and giving her the gifts.

The Oyster Bay High School Business and Marketing Honor Society raised approximately $4,000 for the HPS Network at their annual charity fashion show, held at the Oyster Bay High School Performing Arts Center. Honor society students planned the event, gathered donations, and sold ads for the event program. Many honor society parents also donated baskets for a raffle filled with items such as an overnight stay at a bed and breakfast, Yankees tickets, Mets tickets and a Vera Bradley gift bag set. Ashley Appell, an alumnus of the high school, sang “A Dream is a Wish Your Heart Makes” with a recording of fellow HPS’er Mervin Hernandez playing the sax in the background. She also modeled two dresses at the event. Donna Appell gave a presentation about HPS and showed the video “Stronghearted” by Rafael Velez. The video is about Rafael’s experiences growing up with Hermansky-Pudlak Syndrome and his first HPS Network Conference.

The Jewish Guild for the Blind and the HPS Network are working together to offer a teleconference-style support group for Spanish speaking parents of kids with HPS. If you know any families that would be interested in this free service, please have them e-mail or call the HPS Network at: info@hpsnetwork.org or 1 (800) 789-9HPS.

People with HPS types 1 and 4, over the age of 18, are needed to participate in a research study at the National Institutes of Health investigating the lung disease of Hermansky-Pudlak Syndrome. Volunteers will be asked to undergo a lung lavage to collect cells from the lung. A lung lavage involves inserting a tube with a tiny camera on the end into the upper lung, and then squirting saline fluid into the lungs to cause the volunteer to cough. The coughing causes the lungs to sluff off cells which are then suctioned up as fluid. (The HPS community has nick named the fluid “liquid gold” because of its value to research on the pulmonary fibrosis of HPS). Patients are technically awake for the procedure, but are given drugs so that they have no memory or awareness of the procedure. Some medical conditions may prohibit one from volunteering. Those who have already undergone lung lavages can re-volunteer every six months. If you would like us to add your name to a list of possible volunteer...

After a long day of cameras, who wants to cook? Here's Karen, myself, Holly and Tommy enjoying dinner at their local Mexican restaurant.

Kathryn posted this story to the HPS listserv, and there a number of stories out there about this. As many of us take these meds for our reflux, I thought I'd share it. I would add, however, that you really shouldn't change your medication routine without talking to your own doctor. A lot of drugs have a lot of side-effects. You and your doc need to weigh a potential side effect against what you're being treated for. My reflux is pretty bad and happens any time I'm not taking my meds for it. The damage the reflux could do to my lungs is probably a bigger concern for me than this potential problem. Still, it's nice to know these things. FDA warns of fracture risk with popular heartburn drugs For people taking over-the-counter proton pump inhibitors, the FDA said they should only be taken for 14 days to help ease frequent heartburn. HealthDay Reporter TUESDAY, May 25 (HealthDay News) -- Blockbuster heartburn medications such as Prevacid, Prilosec and Nexium will now c...

And here is Dr. Lomax getting ready for her interview. We really can't thank Dr. Lomax enough for all that she did for us on this project. If you live in Greensboro and you need a dermatologist, she's awesome. She'd be great for families not just with HPS, but albinism in general.