Living on the frontlines

Here Karen stands ready to answer questions about HPS. Note that once again everyone prefers the chocolate chip platelets over the butter cookie platelets - I'm so offended - grin.

Boy does our map need updating. There's a new paper out from the Netherlands documenting four new cases of HPS. One is in a child of Dutch ancestory. We've seen HPS in Dutch families before. What was new, however, was a family with three affected members who were immigrants to the Netherlands from Libya. Thus, we can now add Lybia to our global tracker of HPS cases - just further evidence that while HPS is most common among Puerto Ricans, it does occur all over the world.

This is the second annual ATS Foundation dinner. The ATS Foundation helps to fund grants for lung disease research. This event is a fundraiser held at ATS - dinner was $100 a plate. It is, however, an excellent networking opportunity.

Karen calls home to chat with her hubby Tommy.

Oyster Bay, NY – The Hermansky-Pudlak Syndrome Network (HPS Network) awarded Dr. Samuel Seward its Doctor of the Year Award at its 17th annual HPS Family Conference in Uniondale, NY. Dr. Seward is the only physician to have a private practice caring for patients with Hermansky-Pudlak Syndrome or HPS. HPS is a rare form of albinism that, in addition to vision impairment, causes a bleeding disorder. Some gene mutations also cause digestive problems much like Crohn’s Disease and pulmonary fibrosis. It is one of the most common genetic disorders among people of Puerto Rican heritage. Dr Seward has dedicated countless hours to help patients with HPS, often giving up weekends and family time. He has served many years both on the HPS Network’s Board of Directors and Scientific Advisory Board. “What I like best about Dr. Seward is that he listens to what I have to say. He gives me the time I need.” said Ana Guzman, one of Dr. Seward’s HPS patients. “Although I live in Kansas, I see Dr. Seward

Come on docs....this way to free alcohol......that's right....follow the music.......

The opening ceremony of ATS ended with a New Orleans Jazz Band leading thousands of doctors through the convention center to the complimentary hurricane drinks - virgin ones available for those of us who don't drink. To be honest, I never saw what the big deal was about the hurricanes. It tastes like fruit punch with booze to me. Big deal.

It’s been quite a few weeks! I know I haven’t blogged much lately, but boy do I have catching up to do. I started out the most recent round of traveling by heading to New Orleans for the American Thoracic Society or ATS. This time I was able to meet Karen Tillman, who came along to help man the booth, in the Atlanta airport. We were able to be on the same connecting flight to New Orleans, which turned out to be a real blessing. I had been worried about traveling. I’d had a bad two weeks of GI problems, the kind that require one to take up residence in the throne room, if you catch my meaning. The day before I was to leave, all of the cramps and problems seemed to go away and I thought I was in the clear. I got up the next morning and everything seemed to be fine until I got to the airport. The hour before I got on the plane I was in the bathroom three times! Once in the air, I had to violate the seatbelt sign for an emergency run. Thankfully the flight attendants didn’t give me much gr

I took this before everyone was really seated. It really was a full house. In the afternoon several experts in different kinds of lung disease gave various presentations on lung health. They were wide ranging, from how indoor and outdoor air can impact lung disease, to the importance of diet and exercise, to a doc. that gave a presentation on the genetics of pulmonary fibrosis. We were thrilled that he included Hermansky-Pudlak Syndrome on his slide as a cause of pulmonary fibrosis. It made our day!!! We really are getting somewhere in the lung world thanks to the great docs we meet at this meeting.

The Public Advisory Roundtable held a patient session called Meet the Experts. Essentialy, there were global experts on various types of lung disease and the patients could sit around a table with them and ask questions. Of course, we didn't think anyone with HPS would show up but us - we don't know of anyone with HPS in New Orleans - but Dr. Gochuico from the NIH agreed to man our table anyway. We wanted to be there, even though we knew we wouldn't have a lot of patients like some of the other lung diseases, because we wanted to brand HPS. We wanted to be included in the thought process so that we too have a seat at the table. It also gave us some time to talk to Dr. Gochuico. They have some new ideas about the pulmonary fibrosis of HPS. I don't want to get into them because they are just that - ideas that haven't yet been investigated or tested. still, it's so great to know the cogs of thought are still turning and new ideas are being bantered around at NIH.

Being the Year of the Lung fans that we are, I couldn't help but take a few photos of all of the Year of the Lung signage around the convention center. It also got several mentions at the Public Advisory Roundtable Breathing Better sessions. Above, Karen and Ashley pose next to a Year of the Lung sign.

Here's Karen and Ashley putting the finishing touches on the booth.

When you attend a large trade show like this, it's always amazing to see how quickly they build the exhibit hall. Today Ashley, Karen and I put together the HPS booth while Donna attended a meeting. I took a few photos of the hall pre-show from our booth. Wait until you see them from the actual show! Building the booth was hard work, mostly because typically trade show organizers don't pay to cool the large hall while the workers are building it. They save the cost of cooling for the attendees. The thing is here in New Orleans it was 87 degrees today and extremely humid, and that was outside. The air wasn't moving and the sweat was just dripping off of me. I felt like I needed another shower before I even got to the first meeting. Karen and I both had to sit down a time or two because we were getting light headed - but we got the job done and got out of the hall without being run over by a fork-lift or a crane. It was a small victory.

Karen and I arrived safely in New Orleans last night for the 2010 meeting of the American Thoracic Society. Donna and Ashley were already here as Donna is working on a global lung health initative. I'm too tired to write about everything that happened today, but I can say that so far the meeting is going very well. We've seen many of our doctor friends here so it seems we're off to a good start. I'll post a few photos from our day. I tried to post them to Facebook, but the photo uploading tool seems to be wacky again.

Ever have one of those days where you just want to complain? I was watching a Saturday Night Live sketch and the line “Really?” is now stuck in my brain. Sometimes the HPS life has the dumbest problems. This is one of those weeks when I’m grateful I don’t have a traditional job. Between the GI issues, the wacky sleep issues because of the GI issues, and the time I’ve spent on the phone fighting with insurance companies etc – well, who has time for work? Groan. I’m having a CPAP issue. My last mask has a crack in it so it whistles. Who can sleep with a whistle going off every time you breathe? So, I tried to order a new one, only I haven’t needed new CPAP supplies in a while. My insurance company requires that I order this through a mail order company rather than a local provider, and the mail order place has changed. This might be the cheap idea, but it isn’t always the best idea. When you get a new mask through a local provider, you get to meet with a respiratory therapist. They check

I know this is a day early, but I likely won't be able to post this tomorrow. We have two newbies on the HPS patient registry this week. Way to go on the outreach!!!! We're now at 95 to go!

Maria G with her sister and mom. The interpretor is helping her with the microphone headset system. This is Brenda with her husband. Brenda has been very busy on the outreach trail in the Bronx. Brenda has HPS, although many people don't believe she has albinism. This is Melody. The only time we get to talk to her is around conference as she's not online much. I was so glad to see her again this year! Here's our buddy Karen T. And finally here's Donna with her husband Richard. Photos by Tommy Tillman.

This video comes via Yary. Thanks so much Yary for recording this and sharing it with all of us who have been worried about our friend Carmen. Poor Carmen has been in the hospital for months now.

The BBC journalist who broke the story to the world about the killings of people with albinism in Tanzania has recently won an award for her bravery. I don't know if she'd ever be able to come to the US, but it would be a moving gesture for the albinism community to honor her as well. Here's the link to the story: http://news.bbc.co.uk/2/hi/africa/8674440.stm

Notice: this entry will contain frank information. Read at your own risk. Last night, today and tonight have been particularly bad health days. I'm doing a horrible job of tracking my fatigue for Kevin, but to be honest, I've been too busy dealing with GI stuff - no wonder I'm tired. My sleep patterns are completely out of whack. If you lived in my shoes, yours would be too. Last night about 2:00 am I started having extreme abdominal pain. These cramps were like cramps I haven't had for years. I honestly was debating about going to the ER because they were so severe. I was also having horrible runs, as though someone had just turned on a faucet. But, the output didn't look bloody at all - instead it's more of a yellow color - very odd. This morning I started my time of the month. Since getting the IUD, this is very unpredictable as it only happens every few months and never on a schedule. It's been a welcome change for me! I was relieved to at least know the

While everyone else is resting up from Saturday afternoon and getting ready for the big Saturday night banquet, our doctors and researchers are meeting in a closed-door science meeting. It's the board's opportunity to ask for their wisdom about where the science is going and what our very limited funding should go to first. It's also a chance for the researchers to talk amongst themselves about what they're working on and what they might try next. It's an informal setting so often the free flow of ideas is very exciting. I often don't even understand what they were talking about until weeks later. We are careful not to interrupt the flow for fear of getting in their way. This year during the science day on Sunday there were some exciting presentations. So exciting to the researchers, in fact, that they've asked for an entire day next year where they could meet amongst themselves. We are working to make that happen.

After the initial introductions, we break up into three groups - one for adults with HPS, one for parents of kids with HPS, and one for spouses, partners, friends, cousins, boyfriends or whomever else is very involved in the life of their HPS friend. These photos are from the HPS adults section. Next year we will offer a fourth session at the same time to allow those who don't wish to break up into these groups something else to do. Sometimes some of these sessions can be a bit emotional. It does, however, allow those that need it a safe place to ask questions or express emotions they might not want to share in mixed company.

The HPS Network is launching the Names for the Cure program to help develop the mailing list for its annual capital campaign. Names for the Cure will be a monthly contest with a gift card prize every month. The first drawing will be held June 30th for a $10 Starbucks gift card. Participants can earn a drawing entry for every five names and addresses they submit to the HPS Network for the capital campaign. These names are kept on a separate database, thus they will not receive other mailings from the HPS Network. Anyone can submit names and you can get a head start in May for the June drawing. A grand prize will be awarded at the 18th Annual HPS Network Family Conference in New York. (You don’t have to be there to win.) The grand prize will be awarded to the contest participant whose names have the highest percentage of responses in the capital campaign. The grand prize is yet to be determined. The capital campaign is held in conjunction with the holiday season. Letters come directly f

The singing duo of Candice and Crystal Sipe, otherwise known as Angels in Voice, held their 11th annual Hermansky-Pudlak Syndrome Network benefit concert April 16 at the Thomas Road Baptist Church, 5735 West Thomas Road in Phoenix.. They raised approximately $1,300 for the Network with the help of a cast of performers and friends including: John Edmonds, Judy West, Chuck Kinslow, Pastor Paul Nunez, Paula Daul, Rick and Sue Jordan, and special guests the Salvation Army Phoenix Citidel. The evening was full of gospel music as well as the story of the HPS Network and our ongoing quest for the cure. Fans of Angels in Voice can check out their blog for photos, video clips and information about the group’s CDs. Go to: www.angelsinvoice.com .

Below is some information from the Asante Mariamu Foundation. HPS'ers will remember that thier director came and spoke at our conference. Unfortunately, the news from Tanzania is pretty grim. There's another upsurge in the attacks on people with albinism. In the last two months, a four year-old child with albinism was taken out of her bed and killed, and four others were mutilated because of their genetic condition. If you want to read the stories (they are hard reading) you can visit the Foundation's Web page with updates at: http://www.asante-mariamu.org/Asante_Mariamu/Hot_Topics.html

I didn't get to chat with Nicole at conference. It's one of the down sides to running a conference. Often you're too busy making sure things are in order for the next event to chat with people as you'd like. I did, however, get to chat with Nicole online this week. I was so glad she messaged me and that I was in a place where I could answer her. Nicole is 17 and from Puerto Rico. She'll be a senior this coming year and wants to go to medical school. Go Nicole!!!! Nicole's photo (I don't think she'll mind me saying) is an educational opportunity for those who don't understand the varying pigment presentations of those with HPS. Some HPS'ers are as blonde as Ryan and I, while others look like Nicole here. Doctors really need to understand that, and I'm sure one day Nicole will be able to help us out witih that message in person.

Meet Miv, Mervin's mom. She's been a great help to the Network during the past year. She works in the Division of Blind Services in Orlando and thus has been able to help a lot with outreach. She was also our very popular scrap booking instructor for the scrap booking session at conference. Thanks to Grandma and Grandpa for sponsoring that session. I wasn't able to attend, but those that did had a blast!!!!!

My latest low vision moment..... Last night, naked as the day I was born, I went to get into the shower. There was this big black thing in the bottom of the shower near the drain. This time of year I have a lot of spiders in my apartment, and they give me the willies. I often find them in the shower for some reason. This big black thing was bigger than most of my eight-legged friends, but based on past experience, I assumed he was just the grand daddy of the clan. There was no way I was going to share my shower with him, and he was so big I was afraid to try to squash him with a paper towel. I went in search of bug spray under the sink, but I'm out. I thought maybe cleaning chemicals would be enough to subdue the beast so that I could kill him without him getting away from me. There's no way I'd sleep thinking he was on the loose in the apartment. So, I leaned into the shower armed with everything from Clorox to Windex. I squirted him with all barrels. He didn't move. I

This is also a 12 by 16 (or 16 by 12 - you get the idea) acrylic on canvas board. I'm also selling it to benefit the HPS Network. It's $150, a bit more expensive than others, but it took more hours to paint than some of the others too. If I sell them great - if not I'm saving them up in hopes of having an exhibit at some point to benefit HPS.

I wish I had a better way of photographing these. This is a 12 by 16 acrylic on board canvas. It's a garden scene and was a bit of an experiment for me - a technique I need to work on a bit more. I'm selling this one for $50 to benefit the Hermansky-Pudlak Syndrome Network. If it doesn't sell online, then I'll just hang onto it for future display at various HPS occassions and fundraisers.