Living on the frontlines

For any of the HPS’ers that haven’t been keeping up with the HPS adults Yahoo! group, and who know Sheena from conference – Sheena is having bowel surgery tomorrow. Please keep her in your prayers. This sort of thing is never fun. I know Sheena will be happy to just have it over with.

I came across this video clip on YouTube. Ben Morrison is a comedian that has Crohn's. The GI issues of Hermansky-Pudlak Syndrome have been on my mind a lot lately. We've had a bit of a GI epidemic lately. Currently we've got Sheena about to have surgery, Karen about to have a scope, Matt recovering and hopefully returning to his internship, and Katy's ongoing problems - just to name a few! Trust me - there are more out there. HPS does involve a Crohn's-like element for about 20 percent of us. Keeping your sense of humor is incredibly important to being able to live with a chronic illness. I have to admit, sometimes I'm not feeling very ha, ha - but stuff like this helps. I know there are some of you who would choose a few different words here and there - but I liked this!

I'll post in a second to explain what this is all about.

Since May when I added several new medications, my energy levels have been much better – but this week I’ve felt a bit tired and I don’t really know why. This morning I slept until noon for a grand total of 14 hours of sleep. That seems a bit much. My joints, while not horrible, had also improved and now are acting up a bit. And the sores around my stoma, while slightly improved, are still sore and bleeding. That’s a pain because it makes me nervous every time I leave the house that I’m going to have a problem. I had some blood work done on Friday. So, maybe that will tell us something.

Often there are things going on in HPSland that I just can’t blog about in detail in order to respect privacy. But this last week a few things happened that I want to mention in general terms. Two HPS’ers agreed to give an incredible gift to HPS research, and to all of us, by making a gift of their tissue to the NIH. In both cases they were having surgery and contacted the Network to ask if the bits being removed could be of value to research. Donna was in Washington this week on Capitol Hill and at a meeting of the Genetic Alliance and at NIH with Ashley. When I called to tell her of the offers, and ask what needed to be done, she got almost teary on the phone. She said that for years she’s had to ask families to donate tissue during the worst of times. She was so humbled that people are now coming forward to make such an offer. Sometimes NIH accepts the offer, and sometimes they don’t. It depends on the organ involved, the nature of the reason it’s being removed and the overall histo...

Later this year the HPS Network will launch our first capital campaign. Many not-for-profits have annual capital campaigns to help raise money for operating costs. You’ve more than likely received letters in the mail with a particular charity’s story and an appeal for donations. To have an effective campaign, we are currently developing a fundraising database – a collection of names and addresses of people who might be interested in making a donation, however modest, to the HPS Network. And, we’re appealing to you for help with this process. The people most likely to be interested in helping our efforts to find treatments, and one day the cure, for HPS are those closest to us – our grandparents, uncles, aunts, cousins, friends and even our doctors. We’re asking our HPS community to send in the names and addresses of their contacts that they think would be good to add to our database. Then, most likely around Thanksgiving, those contacts will receive an appeal letter from the HPS Networ...

This event actually happened in June, but I just got some pics for the newsletter and I thought I'd share one here. Some of our families in New York City, led by Liz Diaz, marched in the Puerto Rican Day Parade as a way to do outreach. HPS is very rare, but it does occur in 1 out of every 1,800 births in Puerto Rico. As a result, there are many people with HPS in the Puerto Rican community - and many don't know they have it. We try to do outreach to help families get an accurate diagnosis and be able to do everything they can to stay as healthy as possible. If anyone lives in the New York area and wants to march in the parade next year, let the Network know. Liz did tell the board that it's not a great event if you're not feeling well. They had to stand on the hot street for most of the morning and into the heat of the afternoon before the parade actually started. It was very tiring. If you plan to go, bring your sun screen!

More pics from the family reunion. My grandma didn't want any birthday presents, as if we were all going to show up at her 90th birthday party empty handed, oh please. So, her daughters put together some scrap books of photos from her entire life - from childhood to her children to her grandchildren. I thought it was a really neat idea. And, the afternoon of family story telling that it inspired was so much fun.

Last night I was happy as a clam, thanks to Ryan’s gift of a computer, and Matt’s talents that rehabbed the old machine. I sat at Homer’s, outside for Monday night “Picking on the Patio” with my latte and my laptop. I listened to a mix of John Denver tunes, a few original pieces and of course the old fashioned gospel selections, as I worked on HPS projects. How perfect is that? It was perfect until some schmuck, who looked to be about in his 60s, sat next to me and started smoking. While smoking is prohibited inside, the jam session is held outside and anything goes. About that time Donna called so we could touch base on a few things and I decided it was time to bug out. I have this love hate relationship with smokers. The love part is that I truly understand that it isn’t as simple as quitting. If quitting smoking is anything like my feeble and failed attempts at dieting, I know it isn’t that simple. At the same time, there’s a part of me that gets truly irritated with people that wer...

Sorry guys! I guess when I cut and pasted the link for the Coalition for Pulmonary Fibrosis Webcast, I didn't get the whole thing. Try this link - you'll have to register, but it's free. http://www.videonewswire.com/event.asp?id=39614

It’s been a long weekend. My biggest goal this weekend, after all the preparation for my mom, the trip to Wichita and Kingman etc. and a full week of work, was simply to sleep until I felt like waking up. And I accomplished that goal. I slept in very late Saturday morning and it was wonderful. And then the trouble started. The three little sore spots by my stoma started acting up again. When I went to change my ostomy, they’d fused into one big sore and bled. It wasn’t uncontrollable, go-to-the-emergency-room kind of bleeding. It was just annoying, now-my-appliance-isn’t-going-to-stick kind of bleeding. Sure enough, thanks to the runs, I had a devil of a time keeping an appliance on. And every time it had to be changed, the tape tore my skin and bled. Now I have the sores by the stoma, plus some new raw spots that bled quite a bit and then got sort of pussy (hope you aren’t eating breakfast.) The annoying part about this is that I ended up spending a good part of the weekend in bed try...

I thought some of the blog readers with pulmonary fibrosis might be interested in this. The Coalition for Pulmonary Fibrosis holds patient symposiums around the country. They are much larger than the HPS Netowrk because they are a sort of unbrella group for pulmonary fibrosis. When they had a symposium in New York, they recorded it for broadcast on the Web. You can download the doctor slide presentations as well as the audio from the presentations. I know I must sould like I'm beating a dead horse, but the discussion focuses on IPF. Once again, the only difference between IPF and the pulmonary fibrosis of HPS is that we know our pulmonary fibrosis is caused by a genetic condition. One day the "I" in IPF is going to go away. There are several causes for pulmonary fibrosis, and the more we learn the more we'll understand about those causes. Generally, pulmonary fibrosis will be linked to either environmental factors, or to genes. Enough said. If you'd like to downlo...

Finally I've been able to upload an image. It seems wireless is really good for e-mail, but not so hot for graphics. This took FOREVER! This is a photo of my grandmother at her 90th birthday lunch with her four daughters. My mom is the one in stripes. We had a lovely lunch with the entire family at Larksfield, where my grandmother lives. Her daughters gave her the flowers in the middle of the table as one of her birthday surprises. They chose these flowers because they were in grandma's wedding bouquet. This is my grandmother who is half Puerto Rican. While my cable is down, please forgive me for typos. I seem to type faster than the connection, or the laptop, (not sure which) can handle.

This is a press release that popped into my e-mail today from the Genetic Alliance. I thought it too might be of interest to many of you. I'm one of those patients that tries to actually read the latest literature on my disorder. To our doctors, that might seem a bit weird at times - perhaps even a sign of insanity. Lord knows I frequently don't understand everything I'm reading. In fact, I usually arrive at NIH with a list of questions and consider it the highlight of the week when I actually get to ask a few of them to our researchers there. I try to stay up on the research for several reasons. First, how can I best advocate for our needs if I don't know what's going on? Second, having such a rare disorder, I know my doctors at home don't have the time to comb the Web for the latest research on HPS. Usually these papers don't offer a new treatment, but they do offer me hope. Each one is like a little peice of a puzzle and slowly the peices are coming toget...

The following press release came up this morning on my Google alerts. I thought many fellow HPS'ers, especially those of you that are so good about writing your Congressional reps, would be interested. For some of the newbies, this bill calls for idiopathic pulmonary fibrosis research. The pulmonary fibrosis of HPS is not idiopathic. Idiopathic simply means that the cause is unknown, and we know that HPS genes types 1 and 4 do cause fibrosis. But, just as our HPS research can benefit people with pulmonary fibrosis from all sorts of factors, we can also benefit from IPF research. Thus, we can also benefit from this advocacy work. Resolution Recognizing IPF Challenges Introduced in 110th Congress Legislation formally calls for research into treatment, cure for devastating lung disease WASHINGTON, July 18 /PRNewswire-USNewswire/ -- The Coalition for Pulmonary Fibrosis (CPF) announced today important legislation that recognizes the need for research into the cause of idiopathic pulmona...

With the long list of things I have to blog about, it seems rather stupid to be putting up a health update – but I need to do it to help me update my drug trial records. Overall I have to say I’m doing better than I’ve done in quite a while. I don’t know which medication it is (although I suspect it’s the thyroid med.) but suddenly I don’t come home every night and want to go straight to bed. It’s great to have productive evenings again! And, it’s great to not be feeling so foggy in the head all the time. I feel like I’m playing a little game with my bowels. If I do nothing, I’ve always got the runs. But, if I take the Lomotil, I seem to be able to control the runs to some extent. The week before my trip, however, seemed to be the exception though. Nothing seemed to work for a few days and I was having a lot of cramps. I don’t want to be taking the Lomotil all the time if I don’t always need it – so I’m playing this balancing act. I get the runs. I take a pill, and if that doesn’t work...

If you’ve tried to call the HPS Network in the last couple of weeks, it might have taken Donna a while to get back to you. The Appell family has had its hands full. As many of you know, Donna’s husband Richard had a heart attack two weeks before the HPS conference this year. Can you imagine having 220 “guests” for a conference only two weeks after such a scare? But, that’s the Appell family. The show must go on. Since then Richard has been having some GI bleeding issues. I told Ashley on the phone a few weeks ago to tell her dad, “Only one customer per family – tell your dad you’ve got it covered.” She seemed to think that was funny. Grin. The problems have continued. Meanwhile, Donna has continued to manage Ashley’s care which requires being admitted to the hospital about once every six weeks. This past week Richard was in one hospital and Ashley was in another. Donna was shuttling back and forth trying to be there for both of them. In the midst of this, Richie, Donna’s son, was tryin...

I never got to post that I was leaving before I left. Things were so hectic. There as a lot going on in HPSland. I was trying to finish up some things for work before I left. And I was trying to get ready for my mom to come for a visit. Ryan flew into Kansas City and my mom drove up from Wichita. My mom lives in Germany, but she’s home visiting for the summer. We all went back to Wichita, and then to Kingman, Kans to celebrate my grandmother’s 90th birthday. Now that I’m back, boy do I have a lot of blogging to do. It may take me a while to catch up, and the HPS’ers may have to put up with some family pictures! HA!

Regular readers are well aware of the HPS Network’s relationship with the American Thoracic Society. We’ve partnered with them to award a research grant to Dr. Lisa Young for her work studying the pulmonary fibrosis of HPS. Dr. Young just published a very interesting paper in the American Journal of Respiratory Cell and Molecular Biology titled: Susceptibility of Hermansky-Pudlak Mice to Bleomycin-Induced Type II Cell Apoptosis and Fibrosis. Her findings were exciting in that they will help to further us along on the journey to nailing down exactly what happens in the lungs. The paper was also exciting because it is the first paper that credits the HPS Network as a research funder. I’m a little leery to try to summarize some of Dr. Young’s findings for two reasons. I’m not a researcher and I could easily misunderstand something. Also, I know that when you’re reading things that are hard to understand, you tend to focus in on the things that make sense to you, and that isn’t always the ...

Speed bump Note: Blogger is acting up in a lot of ways right now. It won't let me use headlines, and when I go to approve comments left, they disappear. So, please bear with me a bit. Lately I’ve been feeling so much better than I’d felt in months. My joint pain, while still present when I get up in the morning, usually goes away with a hot shower now. My runs have all but gone away. My breathing has been good (except when outside in extreme heat and humidity). The hives haven’t come back again since the last episode. I have much more energy and am thinking more clearly. But, there’s always a speed bump in these things. This weekend things seemed to have flared up a bit. The runs were back, and the meds didn’t do much to counteract it. My joint pain, while not horrible by any stretch, was worse. I tended to get short of breath more quickly, but then again, I’ve been on a cleaning blitz for my mother’s coming visit. Cleaning, with the resulting dust and fumes from cleaning products...

Once again I’m sitting at Homers. Today Ryan’s computer and the wireless modem have saveme from wasting several hours of time. I had an appointment to get my hair cut at 11:30 am. I decided to pack up the laptop, go to Homers to have a latte and muffin for breakfast while doing a little work, and then head next door to get my hair cut. It’s very hot and humid today. The actual temperature is in the 90s, but I have no idea what the heat index must be. The heat and humidity definitely don’t agree with me. While I’ve been feeling really good lately, and having no trouble breathing inside, it seems when I get to walking in this heat I get out of breath very easily. By the time I arrived at Homers, only about three blocks away from home, I was completely winded. As I ordered my little treat, a latte, my phone rang. It was the hair place. They’d made a scheduling error and couldn’t take me at 11:30. Could I come at 2:00 pm instead? I really need a haircut. I want it before the big family reu...

A few days ago I touched on the topic of my lack of concern about retirement. That entry touched off several e-mails, and thus I want to clarify a few things. I don’t want you all to think I don’t ever think of the future. Rest assured, while I might not be completely convinced that I will ever experience “retirement” I still do contribute to my 401K regularly! It’s not as if I’m somehow resigned to any particular scenario of the future. I want to clarify why it is that a lack of acceptance or recognition of HPS on the part of some close to me is so incredibly frustrating. I’ve gotten to a point where I can accept that this is something not everyone can cope with – or that their method of coping is to pretend nothing is wrong. I might not like it. It might not be my style – but in the last five years I’ve had no choice but to accept that there are people around me who will react this way. I have no power over that. If I haven’t been able to change it in five years, I probably never wi...

Many of you already know this, but for those that don’t belong to one of the Yahoo listservs, the dates of the HPS Family Conference will be different than our usual weekend in 2008. The conference will be held at the same hotel, the Long Island Uniondale Marriott, but the dates will be March 28-30. We always try to hold the conference during the same dates for a number of reasons. We get the best hotel rates in the middle of February in New York. The airfares are the lowest that time of year as well. These are important factors since we often end up helping families attend the conference. The other reason is that all of the doctors that regularly attend always know the HPS conference is the second weekend in February, thus they avoid scheduling conflicts. But this year the Long Island Marriott will be under renovation during the dates of our event and cannot accommodate us. Donna and her sister Sue investigated some other local hotel options, but none could match the Marriott’s rates,...

Dr. Guttentag, one of the researchers working with a mouse model for Hermansky-Pudlak Syndrome, has been awarded a two-year grant by the Great Rivers affiliate of the American Heart Association to help fund her research proposal titled: Mechanisms of Lung Inflammation in Hermansky-Pudlak Syndrome. Dr. Guttentag is investigating the natural history of HPS using mouse models. She is particularly interested in giant lamellar body formation and how it may contribute to the lung inflammation frequently seen in HPS. The American Heart Association is particularly interested in her work for two reasons. First, advanced pulmonary fibrosis often puts a strain on the heart causing various heart problems such as cardiomyopthy. Thus, learning to better treat lung ailments could also help to reduce the number of people facing heart problems. Secondly, one of Dr. Guttentag’s research models looks at a medication commonly used to treat heart failure called amiodarone. In some people, amiodarone affect...

I did it! I'm sitting outside at Homers, listening to live music, and I'm ONLINE! I figured out the wireless thing all on my own! Yahoo! For a non-techie like me, this is a minor achievement!

Have you ever wondered how they name drugs? The actual name usually relates to the chemical compound involved, but the brand name – how do they come up with that? Take some of my drugs, for example. Cetirizine is the “science” name for Zyrtec. Why is cetirizine any harder to remember than Zyrtec? Okay, Zyrtec is easier to pronounce, and when I say it the millions the manufacturer paid in advertising pays off – I remember the ads. But Zyrtec isn’t exactly a warm and fuzzy name. It sounds very “science-like” which is probably a good thing when you’re naming a drug. But, where did the word come from? How about another one? Fluticasone Propionate – that’s the “science” name for Flonaise. At least they start with the same letter. Or how about Diphenoxylate Atropine? It’s otherwise known as Lomotil. I think Lomotil is definitely an improvement on the name, but still, not the word that instantly would pop into my mind if trying to name a product. In my humble patient opinion, probably the mos...

I must confess that often I avoid some of the more personal aspects of having Hermansky-Pudlak Syndrome on this blog to protect some of the people around me. But, at the same time, it’s important to tell the story, the whole story. Over the weekend was one of those experiences that left me dumbfounded, and about which I’m not entirely sure I should blog. But then I thought of my old friend V. who passed away from HPS several years ago, and I decided this is the sort of story that should be shared, albeit carefully. We are planning a large family get together this summer to honor my grandmother who will turn 90 years old on July 11th. In the course of conversation with a particularly close relative, I relayed some of the upheavals at work and my uncertainty about how they all might turn out. Most likely in an honest, yet poor, attempt to be interested and caring, my relative said, “Well, the thing I worry about is what this could do to your saving for retirement. I’m worried you won’t h...