Living on the frontlines

Monday was my scheduled follow-up appointment to see if there is still blood in my urine (microscopic amounts, but it seems to be getting everyone’s attention none the less.) I’d made this appointment several weeks ago so as to carefully time it at such a point that we could be pretty sure my period had nothing to do with the trace amounts of blood. Since making the appointment, I’ve noticed an increased frequency of diarrhea, sores in my mouth that appear one day and are gone the next, irritation and sometimes bleeding around my stoma, more joint pain than usual, acid reflux (which has never been an issue for me before), lots of gas (I’m the belching queen these days) and very mild stomach cramps right below my rib cage about 20 to 30 minutes after eating. They sort of feel like gas. I’d mentioned all of these symptoms to Kevin right after conference, and we’d agreed to keep an eye on them. He was worried I might be having an HPS GI flare-up. I had the same worry. I know all the signs

In all of the events of the past few weeks it totally escaped me that I’ve now kept this blog for more than a year! Wow! It doesn’t seem that long. When I first started the blog, I intended it to be more of a mix of my own thoughts with HPS-related topics thrown in as well. I’ve long wanted to write a book about the HPS Network, the history of the syndrome and our journey to the cure. It seemed a good place to “take notes” of all the many little things that happen along the way, and what it takes to advocate in the medical world and get research and treatments. But a year into the blog, and it seems to have morphed yet again. I don’t have time to write the book right now. I’m too busy trying to get the cure. Grin! And, the story isn’t finished yet. Maybe when we get FDA approval for Pirfenidone to treat HPS there will be a development worthy of an ending (although that won’t be the end of the story either.) Something else, however, has happened with the blog along the way. I average 30

Thanks to Sheena for this little clip. Dr. Gahl will probably be happy that you can't make out his face, but it's him! Grin!

More pics from the Tillmans!

Thanks Tommy!

Pictured are Tina with her new guide dog Rosa. This evening was supposed to be fun. My friend Tina, who has been running the Adventure Fitness Camp Fire program for blind and visually impaired youth, is moving jobs and will be working for the school for the blind. Tonight we’d planned a special surprise party for her. I really, really, wanted to be there. I wanted to be there to celebrate all that she’s accomplished. I wanted to be there to see all the camp fire friends I hardly ever see anymore now that I’ve cut back my time volunteering. I wanted to see all the kids again. We were going to surprise Tina, have some dinner at Waldo Pizza, and then go to a folk music concert. I’ve been looking forward to it for weeks. But it just wasn’t meant to be. I started the day by completely sleeping through church. I had intended to go because I felt pretty well rested (having missed work on Friday.) I even washed my hair the night before and had all my clothes laid out ready to go. I vaguely re

As many of you know, Dr. Merideth was interviewing women with HPS about their OBGYN histories in hopes of getting a better understanding of the challenges HPS women face, and how to best treat them. She had a "runner" to go and get women when it was their turn. So we could see her, she carried around this large orange poster board.

Thanks Tillmans! Tommy, you're the best!

Thanks to Tommy for putting together such wonderful photo slide shows!

One of the tricky parts of the HPS Family Conference is getting everyone fed, and fed as cheaply as possible to keep the price of the conference down. One of the ways we do this is to bring food in from the outside and try to feed everyone in the hospitality suite. That means eating in shifts to some extent to get 220 people through a meal, and do it in under an hour! (Photo from the Tillmans)

I’m sorry I haven’t done such a great job of posting much lately. It’s been a tough week. It was a tough week because of all the HPS’ers that were running into troubles, but also I’ve been feeling a bit under the weather too. Having HPS can make you feel like a hypochondriac most of the time. Remember the cartoons when we were kids? When a character had to make a decision about how to respond to a given situation there’d be a little devil sitting on one shoulder, and an angel on the other shoulder. The devil and the angel would argue back and forth until one finally won. That’s sort of like the little mental battles that go on in my brain sometimes, except instead of a devil and an angel, there’s Kevin, the voice of medical reason on one shoulder, and there’s the rest of my life on the other shoulder. Should I go to a doctor? Should I stay home from work – the debate constantly rages. Right before conference I started having some on and off diarrhea. I also had some sores in my mouth,

More conference pics.....

Things started looking up today. Joey not only escaped the ICU, but they let him go home! That was much earlier than had been expected, and I think it must be a good sign that they believe the bleeding is under control. He does have to go back for follow-up CT scans, just in case, but this is really great news! The other nameless HPS’er also got to go home today. Another great sign. Sheena seems to be doing okay. It turns out she had a bad kidney infection. She’ll be in a few more days. So, things are looking much better than they did earlier this week.

Here's the film crew in action during the opening session of the conference.

This has been a tough week for the HPS community and for the HPS adults listserv. So far I haven’t had an update on Joey this morning. I’ve been getting them from Donna, and Donna has a lot on her plate right now adjusting Ashley’s medications. They’re in the hospital right now. Please also keep Sheena in your prayers. Sheena’s in the hospital right now too, although I don’t have many details about what happened. We’ve got another HPS’er in the hospital as well with serious GI complications. It’s been a very tough week all around. Keep all of these folks, as well as the extended HPS family, in your prayers. I’ve reached my quota for the week – no one else is allowed to get sick – period!

Joey is awake, alert and clear as a bell today. He was able to eat a bit and apparently is feeling a little frustrated that his glasses were distroyed in the accident. To me, that all sounds like wonderful news. If you can be sitting in the ICU fretting over your glasses, then things could be a lot worse. They are, however, keeping Joey in the ICU for now. They did another CT scan and the head trauma is no worse, but it's also no better. So, they want him where they can keep a really close eye on him.

Many people in the HPS community know the DelVecchio family. Marie and Joe DelVecchio both serve on the board of directors of the HPS Network. They were one of the first families back in the days when Donna was having the HPS Family Conference in her basement. Joey, their son, has grown up in the HPS family. This morning Joey was hit by a car while crossing a street on his way to work. He's currently in the ICU with a head injury. His head hit the winshield of the car so hard it completely shattered the glass. There's a cut on Joey's brain and likely some swelling in his head. He was unconscious, but woke up this afternoon and seems to be alert and responding to his surroundings. That's an awesome sign. But, he's not out of the woods yet. A head injury can be quite serious for anyone, but for someone with a bleeding disorder it's that much more serious. Luckily, the hospital was able to contact Joey's mom very quickly after he arrived in the emergency room.

For the first time this year we invited several vendors to set up tables. They represented mainly (but not totally) local New York groups and services. This is the crowd checking out what they've got to offer.

Here's another pic of the chocolate rose construction project. Grin! Now, did I take a picture of the finished product? No - I wasn't thinking. If anyone got one, please send it my way!

The following article ran in the Burbank Leader, Feb. 19, 2007. I thought some of the regular blog readers would enjoy it. The verse especially caught my attention both because I happen to like that one, and because I've seen it on Katy's blog several times. FAMILY FAITH:Trust God's plan for us By KIMBERLIE ZAKARIAN "Trust in the Lord with all your heart and lean not on your own understanding; in all your ways acknowledge him, and he will make your paths straight" (Proverbs 3:5-6). This popular proverb calls people to trust in God amid each and every one of life's circumstances. As I write this column, I am in New York at a conference for a rare disease called Hermansky Pudlak syndrome (a platelet dysfunction that can effect people with albinism). While I look around me at all the children and adults affected by this syndrome, my mind has countless thoughts and my heart experiences profuse emotions. Scores of people attending this conference pray for their fa

Pictured above is Brenda, a fellow HPS'er, and her husband at the HPS Family dinner. Brenda is one of the sweetest people you could ever want to meet, and she's one of those people I didn't get enough time to sit and talk with at conference. Brenda is also a great example to show that you can't diagnose Hermansky-Pudlak Syndrome by looking for people that "look albino." The albinism "look" of HPS can vary widely. If it weren't for the red eye in the photo (having a hard time adjusting the red eye in my pics right now), you'd probably never guess Brenda has any sort of albinism just by looking at her.

A second drug trial to treat the pulmonary fibrosis of Hermansky-Pudlak Syndrome is planned to open this spring, according to the announcement made by Dr. Markello from the National Institutes of Health at the Hermansky-Pudlak Syndrome Family Conference last week. This protocol is designed to treat patients that are found to be too ill for the ongoing Pirfenidone protocol. Patients must have a forced vital capacity (FVC) of less than 45 for this trial. The trial will test a cocktail of medications, all of which are already on the market for other uses. It’s NIH’s hope that these medications, in combination with one another, will slow down the disease process. The protocol will recruit six to 12 patients for this study. They will be brought to the NIH (at NIH’s expense). The first hospitalization is estimated to be three weeks as each medication is added gradually and any adverse reactions or side effects are monitored. Then patients will return to NIH for approximately three days every

Isn't this little guy a cutie? Here he is with his parents who came all the way from Puerto Rico to learn more about Hermansky-Pudlak Syndrome.

Every year after conference two things happen to me. I get a cold, and I get to feeling depressed. It’s so refreshing to hang out with other people with the Hermansky-Pudlak Syndrome type of albinism that coming home is sometimes a bit of a let down – a hard landing back in reality. And, the fact that I barely ever sleep in conference probably has something to do with the cold. I just wear myself out. This year my post conference funk hasn’t been so bad. Don’t get me wrong. I miss everyone terribly. But I came home even more exhausted than usual with a long and stressful week ahead at work. Our magazine was supposed to go to press on the day I got back into the office. So, I worked like crazy to have all of my things finished. I got up at 5:00 am to work a few hours before going into the office, and carried work home with me at night. Coupled with the things that needed to be done to bring conference together, I was wiped out before I even arrived in New York. This is my excuse for my

Here are Matt and Ryan at the dance. I think Ryan always looks so good in a suit!

By the time we'd finished the HPS board meeting, the HPS Conference introduction meeting, the Puerto Rico meeting and the Puerto Rico board meeting, we were all a little slap happy. Donna had this funny CD she kept playing throughout the conference with songs about meetings - so she broke out the CD and made us all dance. The woman in the red is Hilda, who has been vital to our efforts in Puerto Rico. She's a retired nurse from the NIH who just can't get enough of us - grin! Really, she's amazingly deticated to us. The woman in the white was a doctor that came from Puerto Rico to learn more about HPS.

After the opening session on Friday night, we held a meeting for the HPS'ers and family and friends that had come from Puerto Rico so that we could discuss some issues unique to their organizing efforts on the island. Here's a pic of at least part of that circle. Isn't the baby just a cutie?

I should be blogging about the second protocol, but I'm tired and it's complicated and I want to be sure and get it right (although Julie summed it up perfectly on the HPS adults yahoo group!) So, instead, I logically just spent an hour trying to figure out how to get Blogger and Photobucket to play nice and let me post some video clips the way I want to post them - to no success. Grrrrr....so, sorry, more pics tonight. Here is Sheena and Julie and Jeff in the Tillman room starting to work on the craft project surprise. Thank you Tillmans for the pic!

Here's part of the gang (photo courtesy of the Tillmans) looking quite determined! Pictured are Julie, Sheena, her husband Jeff, Karen and Ashley. (Ashley's started using a cane and it seems to be working well for her.) A little conference story.... We were trying to think of something special to honor Donna, her sister Sue who works several days a week in the Network and organizes everyone's travel and a big hunk of the conference, JoTina who regularly volunteers in the office and Kathleen, a retired banker that helps us with our financial stuff. Karen came up with a craft project to make roses out of Hershey kisses. They turned out beautiful! But, it meant there were a lot of people in the Tillman's room working on this secret project. At one point several of us were heading to the Tillman room. I was walking behind Julie and suddenly there was a thunderous knock and someone sternly saying "Hotel security!" The whole group of us turned and quickly made our w

Holly and Karen Tillman waiting on the plane to take them to New York!

This is a photo the Tillman family took out of the window of the airplane flying into New York. New York, New York, it's a heck of a town....the Bronx are up and the Battery's down.....the people ride in a hole in the ground.....la la la la la la......okay, so I'm still a little sleep deprived.

Here Dr. Gutentag presents her research results. Dr. Gutentag is actually a neonatologist (baby doctor) who specializes in the breathing problems of premature babies. She's been studying surfactant, a substance that lubricates the lungs so they can expand and contract more easily (think of it like the grease you use to oil a creaky door.) That work got her interested in Hermansky-Pudlak Syndrome. She found that while HPS'ers have enough surfactant, we seem to have a hard time releasing it. Dr. Gutentag is one of the reasons we all really need to be pushing for adaquate funding of the National Institutes of Health. HPS isn't her primary research - but she's able to help us out even though we can't give her a big grant because the rest of her lab work is so well funded by the NIH. She says those grants are getting harder and harder to get, however, and so her research is sort of stalled out for need of funding. She seemed like she needed us to inspire her again at co

It's Valentine's Day! Sadly I'll be spending it alone this year. After several years of being completely spoiled by large flower arrangements being sent to my office by my boyfriend - well Valentine's Day just isn't the same without him. We seem to have finally drifted apart and gone our separate ways, although I know we both care for one another deeply. Sometimes love isn't enough. In our case, geography got in the way. Peter, my boyfriend, has two children and a great job in Hong Kong. Before HPS, I would have gladly, happily, practically skipping, moved half a world away. But just as we seemed to be reaching that stage in our relationship along came HPS and suddenly I felt I had to choose between a future with Peter or having a future at all. I knew that my lungs weren't getting any better, and I knew my best shot to fight this disease was in the United States. So, I chose not to pick up and move half way around the world. Many, many people have said to m

Donna has a wonderful way of coming up with great ice breakers and creative ways to kick off sessions. This year she had a whole CD of "meeting music." I have no idea where she found it, but pictured above is Dr. Gahl, Clinical Director of the National Human Genome Institute at NIH and Donna dancing to the tune "Welcome to the meeting." Just in case anyone had any doubts that Dr. Gahl would do anything for us!

Well, I've got so much to blog about, but when I got back into the office I discovered our press date was moved back and there's still a lot to do. This evening I've been answering questions from conference goers that got home, thought about things a bit, and had questions about some of what they heard in the meetings. So, in the meantime, here are a few pictures from the conference. Pictured here in the middle is Susanne, an HPS'er from Germany with her mom on the left and Carmen Camacho, an HPS Network board member on the right. I was thrilled that Susanne got to join us this year.

Pictured here is Dr. Yao from the National Institutes of Health. He will be running the just-announced GI protocol for Hermansky-Pudlak Syndrome. One of the more exciting developments at the HPS family conference this past weekend was the announcement by the National Institutes of Health that they’ll be launching a treatment protocol for the GI problems associated with HPS “sometime this spring.” The final paperwork isn’t yet complete, so please keep in mind that last-minute changes can still be in the works that I don’t know about. All I’m reporting here is what was announced at the conference. Dr. Yao, a fellow working under Dr. Mannon, will be running the day-to-day operations of this protocol and thus presented it to the HPS patient community. Dr. Yao is a new doctor to HPS, but he’s been “assigned” to us by Dr. Mannon. Our mission now – wow Yao in hopes that he takes on HPS as his personal cause! Grin! Since the protocol paperwork isn’t yet complete, however, there is not yet a p

Everyone in this photo has Hermansky-Pudlak Syndrome. This was the photo taken at the end of the 14th Annual HPS Family Conference. In total, the conference had 220 attendees - these are only the attendees with HPS whose flights hadn't already left by the end of the last day. I’m home from the 14th annual Hermansky-Pudlak Syndrome family conference and, well, I’m TIRED! It’s as if I went off to another dimension and have just been plopped back into the world of reality. The house is still dirty and in desperate need of some TLC and tomorrow morning God only knows what’s waiting at work. I’m not checking my work e-mail tonight in hopes of preventing any going-to-press crisis from affecting some much needed sleep tonight. I can’t do anything about any problems tonight anyway. Getting to the HPS conference isn’t easy. It can be expensive and hard to get off of work – but, for me, it’s as important (probably more so) than anything else I could be doing to better my health. I don’t eve

Only a few days left until we’re off to New York for the Hermansky-Pudlak Syndrome Family Conference! There’s a part of me that is very excited, looking forward to seeing all my HPS friends and to hearing all the latest in the research. Then, there’s a part of me thinking about all the details, the board meeting, the nuts and bolts of making something like this run – and I can hardly wait for it to be over. I can’t imagine how Donna and the Oyster Bay team must feel. Last year I went on Wednesday and stayed at Donna’s house to help get things ready. We stayed up until about 2:00 am before Richard, Donna’s husband, came downstairs and “made” us go to bed. We were up at six the next morning finishing photocopying, putting together packets etc. The Appell house was a hive of activity with volunteers coming and going, things being loaded into trucks to take to the hotel – and all the while we’re trying to remember what’s still there and what has gone and what we’ve forgotten. I offered to

Today I was a bit of a slave to my ostomy. I had to change it again this morning because that sore started bleeding a bit. The good news is although it was bleeding, it did look better than yesterday. But, of course, this little bleeding episode happened right as I was trying to get ready for church. They’re going to start to wonder who I am down there! I thought about trying to go and just being late – but to be honest, the best thing I could do for this ostomy issue is not to have to pull another bag off and tear the skin even more – the best thing I could do was to lay still for a while. So, instead of church I listened to part of a sermon on the radio. Not liking it very much (not much into prosperity gospel focused on materialism) – I switched over to This American Life on NPR. Years ago I listened to this show every week. Each week they have a topic, and they invite their stable of writers to write about it. I quit listening to it a few years ago because, frankly, it was getting

Knowing that my trip to the HPS conference is coming up, I’ve been carefully timing a few things in preparation. I don’t like, for example, to travel on the same day I’ve changed my ostomy pouch. Typically, if it’s going to leak, it does it within about 24 hours of changing it. So, today was the carefully planned day in order to get the timing of things just right. The area around my ostomy site was feeling kind of sore this morning, which is unusual. When I went to change the pouch, I discovered a kind of sore, or ulcer maybe, the size of my thumb! The skin was perfect four days ago. Where on earth did this thing come from? It looks dark red, almost purple, and I was sure that when I gently touched it, it would bleed, It did bleed some, and of course thanks to HPS, took a bit to stop. It completely threw off my morning plans because I was afraid to leave the house until I was sure I wasn’t about to have a leaking, bleeding mess on my hands. So far so good – although it’s sore. Just wh

I recently nominated Karen Tillman for volunteer of the week at her local volunteer center. Programs like these are helpful to not only honor our own, but to get a little press coverage for HPS. If you're working on an HPS project, and there's a similar program in your community - let us know! Karen Tillman Hermansky-Pudlak Syndrome Network February 4 Greensboro News and Record What she does: : Karen Tillman is one-of-a-kind. It's not because she has a rare genetic disorder affecting only 400 people in the continental US. It's because she refuses to let her life-threatening condition defeat her spirit and commitment to find a cure. Tillman has Hermansky-Pudlak Syndrome (HPS), characterized by albinism, vision impairment, and a bleeding disorder. She also has pulmonary fibrosis, making breathing difficult and causing her to tire easily. There's no cure for HPS, but Tillman is doing her best to educate people about the obscure condition and raise money for research. S

As some of you know, I’ve been paying attention to the featured themes on the JPG Web site as sort of “homework” assignments to try to improve my photography skills. I haven’t entered another picture (besides the one of Donna) because I’m playing a little strategy. Mind you, I never expect to win one of these contests. I just want to maximize the exposure for Hermansky-Pudlak Syndrome in some small way. The photo of Donna has had 122 people read the caption, and received eight votes. Grin! I decided not to enter a photograph until the category comes up for voting – otherwise I fear it will be buried so far back that no one will ever see it. It would be nice if they rotated somehow. Oh well. But, I think about the themes a lot. I go through my pictures trying to decide which ones are good, and which ones would fit with one of the listed themes. If I don’t have one that fits, then I think of where I might go to capture the right shot – or how I might compose something visual that would t

This is crazy. I’m swimming in work. I’ve been getting up at 5:00 am and going to bed at midnight all week trying to get things for work and for the conference and a few other things all done. It isn’t like I had a spare hour tonight – but I splurged anyway. I watched the last half of Grey’s Anatomy and ER. I’ve never been a big Grey’s Anatomy fan – but after blogging about that a few months ago, and the mountain of dismayed e-mail I got in response, I’ve given the show a second look. Confession time – it’s growing on me. I thought tonight’s show was a little on the overly dramatic side, but the mother/daughter plot line was particularly good. Who doesn’t try their best to live up to a parent’s expectation – and how hard it is when you feel you just didn’t turn out like your parents had planned. I’m supposed to be making way more money and living in suburbia, married with 2.5 kids in a spotless house. Oh well. So much for that! I didn’t turn out exactly as I’d planned either. In my sc

I grew up around the military. I think of West Point as being, well, you know, West Point. But, this evening Donna and another HPS mom, Marie DelVecchio, are on their way to West Point, New York for a joint meeting of the New York chapters of the American Thoracic Society and the American Lung Association. Donna has managed to get a table right outside the meeting room doors to set up our little display, pass out literature about HPS to doctors, and hopefully talk to some of them about the drug trial. The event sort of came together at the last minute. When Donna called to inquire about the possibility, no one knew how to answer the question. Could a patient group have a table? Would they have to charge? But, the details were hammered out and now Donna and Marie, at this very minute, should just about be to West Point. Tonight they’re having dessert at Dr. Seward’s house. And, at o’dark thirty they’ll be bright eyed and bushy-tailed, smiling like a couple of perfume spritz girls at a d