Living on the frontlines

Last week I blogged about some of the interesting papers I’d found on my latest troll through the medical papers (the ones I can get to anyway). One thing I left out, mostly because it didn’t fit with the topic at hand, were the papers I found where the researchers are studying HPS, but not so much for HPS’s sake. Several of the researchers were using the protein trafficking problem of HPS as a model to study cancer cells that don’t respond to typical cancer therapies. The science, as usual, was a bit beyond my humble understanding. I suppose the researchers are trying to better understand why certain types of cancer are resistant to therapy. There were several of these papers. In fact, last year a researcher from Germany studying cancer contacted the Network and asked if we could help him get some blood samples. After his research was looked at by some of our science folks, I volunteered some of my blood. If you could help a cancer researcher with a vile of blood, how could you refuse

Two weeks ago now Donna and I attended the public information meeting for the National Heart, Lung and Blood Institute. It was the first time I’d attended this meeting and Donna was showing me the ropes. It was two days packed full of information, but several things stood out in my mind that I’ll share here. The first day the official meeting didn’t start until evening, however, the lung disease groups got together for about six hours beforehand to discuss issues of mutual interest. This might not be a fair conclusion, but I have the impression the lung disease patient advocacy groups work together far more closely and in an organized manner than patient advocacy groups in other parts of medicine. I think this might partly be because of the power in unification they’ve found as part of the public advisory roundtable of the American Thoracic Society. ATS deserves a lot of kudos for being so open to patient advocacy involvement in what otherwise is a closed club of doctors and researcher

Congrads to Dr. Guttentag. Here we are posing for a pic with Dr. Guttentag on the far left, then Carmen, me, Donna and Dr. Gochuico. The American Thoracic Society is divided up into different assemblies, each one focused on a particular area. For example, one might focus on sleep, while another on COPD. Our docs belong to the assembly for MDs and PhDs - the bench researchers doing basic science related to lung disease. Our own Dr. Guttentag was elected as Chair of the committee charged with reviewing suggestions for various symposiums at the next meeting. We were so thrilled for her!

This is just a brief health update. Some of you might have noticed I haven’t blogged as much lately – pics are easier to post. This past week I’ve felt so drained. I can’t seem to sleep enough. It’s as though I force myself through the day getting done what needs to be done. When I run errands the heat and the humidity feel as though someone is putting a heavy blanket over my face making it hard to breathe. I’ve been doing a lot of cleaning, and I feel like I’m even more sensitive to things than I used to be. Cleaning takes forever because I have to stop so often and take a break. We don’t even want to talk about the jungle growing on my patio. Groan – if I wanted to take care of a yard I wouldn’t be living in an apartment. I really wish the landlord would care for that stuff. All I wanted was a place for a few flower pots that would look cute and I could water every other day. I’ve also had a number of code browns. I suspect part of that is to do with how much sweating I do whenever I

We added one new family to the HPS patient registry this week - that's 90 left to go on the Hundred People Search challenge. Thanks for everyone's hard work on outreach!

Here's Janet, beating the sun with one of those HPS unbrellas.

More of our float folks!

Note the unbrellas, also for sale from the Network - grin! Thanks so much to all of these folks that came out to support us in the effort to get the word out! They have no idea what a difference they're making the lives of hundreds of HPS'ers, and hundreds more to come! Way to go!!!

Awe, Janet and Anthony, who is this little person with the beautiful eyes? (Parade photos by Anthony)

Close up of the signage on the float!

Here Janet is posing with some of our supporters (Janet, you'll have to tell me who these people are!) They're also sporting lovely HPS Network T-shirts - did I mention you can buy those from the HPS Network? Grin! (photo by Anthony, Janet's husband and

Here's our buddy Janet sporting her lovely pink HPS Network T-shirt (available for sale from the HPS Network office). She's getting ready to leave for the Puerto Rican Day Parade!

Hey gang, I just entered a photo to JPEG Magazine. I don't for a moment think that my photo skills are a match for some of the incredibly amazing pics on that site - but the themes are great little personal challenges to make you stretch your skills. Here's a link to the photo. If it ever gets published, it's $100 - and boy oh boy could I use the money. So, feel free to leave nice votes for it. Grin! http://www.jpgmag.com/photos/1777243#ShareThis

I've been here, just not posting the last two days. I have these ongoing fatigue issues, and it seems to go in cycles - I have a string of good days and I go like gangbusters, and then it's as if this invisible brick wall comes down in front of me and I hit it at full speed and fall backwards on my bum. These last two days it feels like every little thing I've done has wiped me out or just takes so much energy. Granted, it's hot. Really hot. The air quality is also horrible. But I've been staying indoors in the air conditioner. When I've tried to venture out and even walk just a few blocks, I get short of breath and feel really, really tired - like I have to recover from a simple three-block walk to Quick Trip. Needless to say, my activities the last two days have been confined to the absolutely necessary. I love blogging - a lot actually - but the world won't fall apart of I miss a few days. It's probably just the egomaniac journalist in me that cares w

Carmen bumps into her doctor from back home! (American Thoracic Society meeting)

Dad called to check up on the festivities. Here's Aunt Barb chatting with him on the phone.

Here we are at dinner. Janet and Aunt Barb had cooked a wonderful dinner!

Since my cousin Janet and I share a bitthday, they brought along a birthday cake to have after dinner. It was very yummy. Of course I didn't get this "figure" by not sampling a few cakes along the way, so I've got an expert opinion on this. The icing wasn't what you'd expect looking at it. It wasn't the sugary kind. It was more like whipped cream, and yet it had such pretty shapes. And inside was a layer of fresh strawberries! I love strawberries!

I don't blog about this topic as much as I'd like, but I saw this story and just had to share it. It's often argued that kids with albinism have "too much vision" for braille. The thinking goes they'll never really use it because they'll always prefer print. I think it has a lot to do with how the whole thing is presented and supported. As for my own current braille studies, I must confess, I've been naughty. I carried braille books with me on my trip and was very good about reading at least a little every day. Ironically, I've been lax since I've been home. So, this is an inspiration for me. Here's the story: Franklin girl in Los Angeles for National Braille Challenge Logan Anderson hopes to visit the ocean during National Braille Challenge By William J. Booher william.booher@indystar.com Logan Anderson, Franklin, is among just 60 blind or visually impaired students in the United States and Canada scheduled to compete today in Los Angeles

Once every month or two I do a pretty exhaustive hunt for any papers published anywhere in the world on Hermansky-Pudlak Syndrome. Often I don’t understand them, but we as the Network try to track these things. We want to know who is researching what, and we try to keep a database going. Mostly the research is science that at best is over my head and requires me to do a lot of looking things up and studying to even understand. I look forward to my visits to the NIH so I can sit down with someone like Dr. Markello and get a science lesson! On my most recent search, however, I found a few interesting tidbits – well, interesting to me as an HPS’er, but not necessarily huge medical breakthroughs from a scientific point of view. They are rather perhaps the sorts of things we should be aware of as advocates in our outreach work. 1. We do have some African-Americans with an HPS diagnosis but they are very few. This is perhaps more to do with a lack of outreach among African-Americans with a

For all of you who tease me about my camera - here's my aunt Barb and my grandmother Kirkwood (now Wagner) - as you can see, it's in the genes. I can't help it.

This is my aunt Barb and cousin Janet from my Dad's side of the family. While I was in Washington, Sara drove us up for a visit. They made a wonderful birthday dinner. Janet and I have the exact same birthday - June 11. She is one year older than I am.

This is a story I adored as a little girl. I even have two sets of Little Women dolls that someday I hope to be able to afford to display. I’ve kept them carefully preserved all these years so as not to mess them up – they’ve never been played with but rather simply admired. The story is told from the perspective of one of four daughters who wishes to be a writer. She remembers what it was like to grow up in the Civil War era after her father left home to participate in the conflict. The stories of the lives of she and her sisters are sweet, hearth and home, remembrances. Watching this movie again after several years made me a bit sad that I don’t have family around, and made me look around at this apartment and wish I had the funds for a flourish of nesting. The movie just makes you feel like home – as if an apple pie should be in your oven and pretty table settings around your table. It’s a chick flick for sure! I give it five out of five spoons.

Here’s another little Netflix instant gem. It’s a four-part BBC miniseries called North and South. I’d best describe it as Dickens meets Jane Austin. The story is based on a novel by Elizabeth Gaskill. The story is about a minister’s family. The minister has a falling out with the Church of England and moves his family from their Jane Austin-like country existence to a harsh, dark and dirty mill town. The story’s central character, the minister’s daughter, Margaret Hale, must learn to adapt to the move. Although it was only from one part of England to another, the differences are as if she’s moved to a new country. Eventually she comes to appreciate the place she, at first, looked down upon as uncultured and uncivilized. And, there’s a great love story plot that would make good old Jane Austin proud! The last episode is the best! I give it five out of five spoons!

Here's another pic from ATS taken by Carmen. Here Donna is posing for a pic with our friend Teresa from the Coalition for Pulmonary Fibrosis.

Usually I do these updates only once a week, if there is anything to report, on Fridays. This week, however, I'd no sooner issued the update and we had a new HPS'er call into the office and register with the Network. So, I stand corrected this week! We added two new HPS'ers this week to the HPS patient registry. We now stand at 91 to go!

I haven’t done movie reviews in a while, although I have watched some rather good ones lately. One of the wonderful things about Netflix is that I can watch a wide variety of things instantly, where ever I am, provided I can get internet access. I only hope that Netflix is able to keep making movies and TV shows available on instant stream. I’m sure there are many in the entertainment community that would just assume limit the access – however, I hope more of them have the foresight to understand you can’t dictate how your customers want your product. You’d be better off to offer what they want rather than what you find easiest to give them. At any rate, I’ve just started watching a documentary series available on Netflix instant play called Empires: the Medici. It’s a PBS production. I’ve always wanted to go to Florence, Italy. Italy is a place I never got to visit while I lived in Europe, and I’d love to see Rome, Venice and Florence. This is a documentary about the Medici family. It

It's about 2:00 am and I'm going to force myself to go to bed now. I woke up about 4:00 am yesterday throwing up and feeling feverish. By morning, oddly enough, my throat and armpits hurt (weird) and I have this huge sty in one eye (also very weird). I spent several hours this morning feeling very queasy, and then most of the rest of the day in bed. I'm so, so, so behind on HPS-related projects. And I have so much to blog about that takes a little more thought than the posts you've seen lately. Groan. I know I've now been back home five days, but it feels more like five hours. This week went by so fast, and I still have such a huge pile of stuff to get through! I've also done a lousy job of blogging about my health while I've been away. I need to keep better records so you'll be seeing something about that too soon.

This is a photo Carmen took at the American Thoracic Society. Here Donna shares her excitement about the show with a doctor from Puerto Rico. She's holding the show daily with a photo of Donna and Ashley on the front page.

Want to meet others with albinism? Come on and join us in Kansas City for the regional NOAH meeting in August. A great time will be had by all!!! http://albinism.org/publications/2009/pdf/kc_event_flyer.pdf

This week we added a new person to the HPS patient registry - that leaves 92 more HPS'ers to find on this year's Hundred People Search challenge. I know we've found a few more HPS'ers, but we can't count them unless they register. Please encourage any HPS'ers you know to register with the Network. We have more power in numbers - and we can't tell people about new research developments etc. if we can't find them.

Another pic of Harvey...grin.

I love the telephoto lense on my camera. It's better than my monocular. I can even see birds in the trees - check it out!

This is a video from the American Society of Hematology. They showed it to us at the reception at the National Heart, Lung and Blood Institute meeting. While it doesn't mention HPS, it does talk about the importance of studying rare diseases for everyone. I thought it was a nice video that you all might enjoy.

Need a little shade this summer? Maybe something to help keep you dry during those summer showers? How about an HPS unbrella? The HPS Network bought in bulk unbrellas for the float in the Chicago Puerto Rican parade. We got extras to sell as a fundraiser. The HPS Network store isn't quite up and running on the Web site yet, but here's a description. I'll post when I know what the shipping will cost. If you want one, call the HPS Network office and let them know - they can tell you what to add for shipping and you can get your check in the mail etc. From Renee in the office: We have 25 umbrellas for the online HPS Store, they are red with white lettering and are called Super Mini Umbrella, tucks into a briefcase or tote bag, yet has a 42'' arc to keep you dry, six panels, manual-opening design with lightweight frame includes matching-color nylon sleeve. Folds down to 9" We can sell for $10.00/ea + shipping.

Here's another member of the family that came with the package when Ryan married Sara - grin. It's Harvey the cat, a.k.a the Harvinator. He is such a riot. I think he just might be the hairiest cat on Earth. I am very allergic to cats, but I managed a week with good old Harvey and did okay. I started to have a little trouble when I couldn't resist temptation and petted him a lot. But, all and all things went okay provided I didn't let my allergy medicine wear off before I took the next dose. I took twice as much medicine there as I am at home now to keep the allergies, and thus the asthma, under control. That's probably not something I could do long term, but it was okay for the week I spent with Ryan and Sara. We had a lot of fun and I was so glad to be there. Harvey is a character. He charms his way into your good graces. I think Harvey thinks he's actually a dog as he sometimes acts more like a dog than the typical aloof cat.

Yep, love my camera - grin.

We have several Elsie's in HPSland and I think some have been confused by which Elsie passed away last week. Here's a photo of her Karen found in her personal archive. I know I've got a great shot of her talking to Ashley at conference, but I can't find it. This photo was taken only two years ago. Elsie's story has been a stark reminder for some of us how quickly things can change in our lives. The value of this lesson is not to dwell on what might be, but rather to make better use of what is today.

Our trade show exhibit fits into this green travel case. We call it "the green monster" because it weighs about 100 pounds. We stuff so much in there that it's hard to close, so here's Ashley, sitting on the case, so we can try to fasten it shut again.

Before and after a trade show, the hall is a messy, sometimes scary place. Ashley found the cranes particularly scary as the zipped around the hall. You really do have to watch your step. At the end of the show, as soon as the last bell tolls the entire place starts to fall apart instantly with signs being taken down, carpet being pulled up etc.

While at Digestive Disease Week we were able to make it to St. Mary's hospital in Humbolt Park to do a lunch education session for the residents. I am certian that diagnosis was made from this meeting. Several of the people in attendance seemed to know of potential patients. Janet was also able to join us for this outreach. Yeah!

I have a thing for old buildings.....grin......

This is an old-fashioned riverboat that you can take rides on up and down the Platomac River. Julie and I thought it looked like fun, someday.