Living on the frontlines

This is Nancy and her daughter Jess at Champions Thursday night before conference. Nancy is a board member so came early for the board meeting. Her daughter Jess did a wonderful job teaching everyone to Zumba!

I had to post this pic on its own because I love it so much. This is Rebecca, the most recent HPS'er to get a lung transplant (this past December) with her doctor. Doesn't she look great? Go Rebecca!!!!!!!

On Feb. 25th, Heather Kirkwood, Carmen Camacho and Frankie Feliciano were joined by HPS Network member Rebecca Rosado to give a presentation about HPS and the HPS Network to the pulmonary team at Brigham and Women’s Hospital in Boston. Unlike many groups, the pulmonary team at this hospital was already quite familiar with Hermansky-Pudlak Syndrome. Not only do they have several HPS patients, but they performed a lung transplant for Rebecca this past December. Rebecca is now doing wonderfully with her new lungs. Heather Kirkwood gave the Powerpoint presentation to the group and Carmen and Rebecca added their own stories about diagnosis and living with HPS. The group expressed how thrilled they were that these doctors were willing to help those with HPS and perhaps become a center where other HPS patients could be referred. Currently another HPS’er is awaiting a lung transplant at the same hospital.

This comes from the National Organization for Rare Disorder's monthly newsletter. It's an update on an issue we've supported - doing away with lifetime coverage caps. It's an issue of particular importance to those with rare disorders. Often treatments for rare disorders can be more expensive because there's a limited market for them. Also, often people with rare disorders need a lot of expensive care from an early age. Many easily max out insurance limits, sometimes even before adulthood. Here's the update from NORD. Insurance Caps to be Eliminated With Senate and House approval late last week of the healthcare reform reconciliation bill, the annual and lifetime insurance caps strongly opposed by NORD and its Member Organizations have now been addressed. Lifetime caps will be eliminated from all insurance plans, new and existing, six months after enactment of the bill. Annual limits will be restricted until 2014 and then eliminated altogether. Another issue o

Are you looking for a way to help the HPS Network? Karen Tillman held her annual Human Race fundraiser this year, only she couldn't be there in person becasue it fell on the same weekend as conference. Her friends really stepped up to keep the event alive even without Karen there. Let's help her out by letting them know what a difference they're making for us! Here's the message from Karen: This year, I was unable to attend the Human Race as it landed on the same weekend as conference. Three of our volunteers from Moses Cone Hospital walked in our place and carried our HPS sign as well as educated people about HPS. They were Bill Murray, Allison Barman (she was in a coma, and had to relearn everything) and Bill Miller. I would like to send them a card with thank you notes and what it means to you for them to represent us. Please email your thank you notes to ktillman1@triad. rr.com Keep in mind these guys got up really early on a Saturday morning, and stayed until

Before I left for conference, I hadn't even finished posting stories from the last outreach trip. Here are a few photos and stories from Boston! Thanks to Frankie the Cat for taking these images. I hadn't yet replaced my camera that was distroyed by Delta Airlines. From Boston: Heather Kirkwood, Carmen Camacho and Frankie Feliciano visited the hematology lab of Dr. Robert Flaumenhaft at Beth Israel Hospital on Feb. 25, 2010. Dr. Flaumenhaft has studied HPS in his lab and invited the Network to give a lunch presentation to his fellow researchers and his students. The Network fed the doctors pizza and soda while Heather Kirkwood gave a presentation on HPS and the HPS Network. Several of the researchers and students had never seen the humans their mouse research will help one day. After the presentation, the assembled researchers engaged in a lively discussion about what direction their research might take in the future. One researcher in particular was interested to learn more ab

Mervin arrived in time for dinner. Mervin is about to graduate with a degree in accounting. He's done a wonderful job helping to upgrade the Network's accounting system.

Ashley and Hilda on Thursday night before the board meeting.

This year was the second conference for Anthony and Janet. Last year we celebrated Janet's lung transplant - she's still going strong!

Old friends meet up again in the hospitality suite. Here's Mervin and Waleska from Switzerland with Carmen C.

Ahhhhh.....we're finally here - only a few more hours until Mervin arrives!

Here's Ashley headed off for her job at the preschool on St. Patty's Day. I couldn't help but take a photo - even if she did close her eyes. Too cute!

Two HPS'ers that I know were particularly excited to see conference get underway were Ashley and Mervin. Here they are skyping with each other the night before Mervin was supposed to arrive. Aren't they cute?

I take these photos of all the gear we bring to conference every year because I know that unless you're living in the Appell household before conference, you have no idea what that pre-conference vibe is like. It's non-stop work from early in the morning to late at night with an army of local volunteers. There's photocopying to be done, packets to be stuffed, powerpoints to be produced, signs to be made and it goes on and on. It's exhausting work, but it's still a sense of excitement when the trucks and vans arrive in the Appell driveway to pack up all the materials for the weekend and take us to the hotel.

A big congrads needs to go out to Maria M. She's been listed on the lung transplant list. It's been a long haul for her. She developed kidney issues and had to undergo a kidney biopsy before they'd agree to list her, a particularly bloody procedure. There were complications, but it all worked out. We are so thrilled for her. Please pray that her new lungs arrive soon and that she remains in good health to get them.

I don't think I've been away from the blog this long since I started it. Conference was wonderful this year and I have lots to report, but by the end of the night I was simply too tired to blog about the day's events. After conference several of us went to New York to do some sight seeing, and then Donna and I went to Washington to attend a medical meeting. It's been a long few weeks and I'm still not home. I'm now trying to process all of the news that I'm so behind on sharing here. Lots and Lots of photos to come - you'll probably get sick of them by the end. He he he.........I am still here!

I haven't posted much this week because I'm so busy getting ready for the HPS conference. I'm in the HPS Network office with several of our volunteers who have been working so hard getting everything ready!

Several days ago I posted that Samantha, one of our little kids with Chediak-Higashi syndrome, was going to get to meet her bone marrow donor. It is a very sweet and touching story. Here's the link to the local Tampa news station that covered the reunion. Chediak-Higashi Syndrome is a sister syndrome to Hermansky-Pudlak Syndrome. There are several similarities, although kids with CHS have much more profound immune system problems than the typical HPS'er. Here's the story: Get out your hankie now. http://www.myfoxtampabay.com/dpp/news/local/312-marrow-donor-meets-girl-she-saved

These are a few more photos from my friend's recent trip back to Osterholz. These are photos from the town square. Very little has changed. This tower was always there, and I never knew what it was. There was a kind of canal that went through the central part of town to a nearby park. At the park there was a big hill and at the top of the hill was the Osterholz windmill. I'm not sure what the story is about the cow on the ladder out the window. Several years ago there was a kind of public art project all over Europe of these painted cows. Perhaps it's left from that? This building is directly across from the church. When we lived there, it had large signs outside saying off limits to American troops by order of the command. I always wondered what sort of naughty things were going on that made the place off limits to soldiers. The building next to it, sort of in the background of the photo, was one of our favorite restaurants. They had Italian-style thin crust pizzas an

Osterholz American High School was located in the village of Osterholz-Sharmbeck. The army post was actually several miles away at Garlstadt (and then the US military had a shipping port presence in Bremerhaven). For the first few months that we lived in Germany, before our mom found a house, we lived only a few blocks from downtown Osterholz in a hotel. We spent a lot of time in the village downtown area near this church. I wish I could remember how old the church is - it's very old - older than the United States is as a country if I remember correctly. Not surprisingly, it doesn't look like it's changed much. Still, it's fun to see it again.

Here's another photo from my past. The building in the foreground was the school cafeteria and the band and choir room. It looks pretty unchanged.

These photos were taken by our favorite roving photographer, Frankie the Cat! Grin! The guy in the white coat was interested in how HPS may affect kidneys. The tall guy introduced himself as "the mouse man." He works with HPS mice. Here we are discussing possible future research questions for HPS after our presentation. Heather Kirkwood and Carmen Camacho visited the hematology lab of Dr. Robert Flaumenhaft at Beth Israel Hospital in Boston on Feb. 25th. They met with several researchers and students in the lab that currently study HPS mice. Some had never met a human with HPS before. Dr. Flaumenhaft gave the HPS group a tour of his new laboratory before the HPS Network served lunch to the lab’s researchers and students. After lunch Heather Kirkwood gave a brief presentation about HPS and the HPS Network, showing the researchers a variety of photos of the people their research will help one day. Carmen Camacho, who has known Dr. Flaumenhaft for some time, shared her HPS sto

Here are a few photos of the elementary school as it looks today. It's where Ryan went to school. It was actually a large American school complex with one building for k-6 and another for 7 - 12. There was also another building for the cafeteria and band room, and another for the auto shop. The gym was attached to the high school.

Here's an older photo of Osterholz American High School back when it was an American High School. I'm not sure how the building is being used now.

An old friend from Osterholz, Christina Pocaigue Stelljes , recently revisited and took some photos of our old school and the village. Readers will have to allow me a little trip down memory lane. This is the way the entrance to the school looks now - it's been added so since the Americans occupied the place. For the few of you that read the blog who remember Osterholz, I thought you might get a kick out of some of the photos. Thanks Christina for allowing me to post them.

Donna Appell, President and Founder of the Hermansky-Pudlak Syndrome Network, recently joined other patient advocates with an interest in lung disease as well as representatives from the American Thoracic Society on Capitol Hill to speak to members of Congress about a variety of issues affecting lung disease patients. The group asked Congress to pass a resolution recognizing 2010 as the Year of the Lung. Lung disease organizations from around the world have already designated 2010 as the Year of the Lung in hopes of generating greater public awareness of lung health issues. The advocates also spoke to members of Congress about the need for greater funding for research at the National Institutes of Health, the Center for Disease Control and the Veterans Administration.

Pulmonary Fibrosis Patient Organizations Applaud Efforts of Patients, Families at FDA Hearing PF Patients Plead with FDA Advisory Panel to Hear Their Voices, Understand Their Plight SILVER SPRING, Md., March 10 /PRNewswire-USNewswire/ -- The Coalition for Pulmonary Fibrosis (CPF) and the Pulmonary Fibrosis Foundation (PFF) are applauding the efforts of Pulmonary Fibrosis (PF) patients and family members for their work to convey to the FDA and an FDA Advisory Committee the sense of urgency and desperation regarding the disease and the lack of treatment options. Their words were heard yesterday by the 11-member Advisory Committee and representatives of the FDA during a public hearing portion of the FDA Pulmonary-Allergy Drugs Advisory Committee discussion of a potential new therapy in the fight against PF. The committee voted 9 to 3 to recommend approval for the drug by the FDA. If approved, the therapy, Pirfenidone, would be the first FDA approved drug for PF. PF is a progressive, relen

I know many of you hae been following the developments for people with albinism in East Africa. Let's show some appreciation to our Representatives who made this resolution possible. Although the Congress isn't the State Department, it still makes a statement. Don't forget, we will have a sun screen drive at conference to send donations to Under the Same Sun. Please feel free to bring an extra tube of sunscreen if you'd like to help. Connolly Bill on Albinism and East Africa Atrocities Passes House 418 to 1 Mar 10 2010 Legislation sponsored by Congressman Gerry Connolly (D-VA) that highlights the horrific murders and atrocities faced by men, women, and children with albinism in Tanzania and East Africa and calls on governments in the region to take action to stop the violence and bring the perpetrators to justice passed the U.S. House of Representatives Wednesday. Connolly’s legislation – H.R. 1088 – moved through the House committee process in less than two months and

The HPS Network presented to the medical staff at Soundview Health Clinic in the Bronx on Feb. 24th. The clinic serves a heavily Puerto Rican population. Donna Appell explained the ins and outs of Hermansky-Pudlak Syndrome and the services the HPS Network can offer patients. The Network served lunch to the assembled medical staff, thanks to the quick work of Marie DelVecchio, who put together lunch for 30 with only a day’s notice and brought it to the clinic. Brenda Lopez, Leticia Colonio and Heather Kirkwood were also on hand to answer questions about HPS and allow physicians to observe the nystagmus in their eyes and the variations in their coloring. The Soundview clinic staff showed a great amount of interest in HPS and expressed a willingness to do whatever they could to help the HPS community.

On Feb. 24th Brenda Lopez, Leticia Colonio and Heather Kirkwood spent an hour on the streets of the Bronx handing out chocolates and brochures about Hermansky-Pudlak Syndrome in English and Spanish. The trio focused on a neighborhood near Lincoln Hospital that has a large Puerto Rican population. Brenda Lopez obtained permission from the manager of a neighborhood CVS Pharmacy to stand at the store’s entrance and pass out information. It was the trio’s hope that the brochures might generate greater community awareness and eventually, through the grape vine, find their way into the hands of those that need the information most.