Living on the frontlines

Since its debut, the episode of Mystery Diagnosis featuring Hermansky-Pudlak Syndrome has aired a number of times. Each time we’ve had inquiries from people who identified with the story and would like to be tested for HPS. It’s been an interesting group. With the exception of one person we’re pretty confident does not have HPS, everyone who has called in has albinism and GI issues. Several report all kinds of bleeding issues. The vast majority indeed do not appear to be of Puerto Rican heritage. It’s amazing when you consider that HPS is supposed to be so rare – indeed so rare that some would argue no attention really needs to be paid to it. (Not me of course) What are the odds that these people not only have symptoms of HPS, but happened to catch the episode of Mystery Diagnosis? How many more are out there that simply have never heard of the syndrome? The next step is testing. We can answer questions and help people seek testing, but that’s all we can do. It’s up to them to follow t...

Rep. Joseph Crowley (D-NY) and Fred Upton (R-MI) have formed the Rare and Neglected Disease Caucus. A Congressional caucus is formed by members of Congress to provide a forum for specific issues or legislation of interest to a specific group. A number of caucus groups exist in the Congress. Their main function is to help draw attention to issues of importance to their membership. The Rare and Neglected Disease Caucus intends to begin by focusing on the following issues: Bringing greater Congressional attention to the more than 6,000 rare and orphan diseases that currently have no FDA approved treatments; Ensuring sufficient funding for rare disease research and medical device development; Ensuring ways to incentivize companies to develop products for rare diseases; Providing a forum for Congressional representatives and various stakeholders in the rare disease community to come together to discuss issues of common concern.

The entire trip Puerto Rico had the prettiest clouds. The photos don't do it justice. It doesn't even begin to compare with being there in person. I loved the light in the sky here. This was taken out the car window.

My trip to Puerto Rico was AWESOME! The only flaw was that it was too short. The HPS Network Puerto Rico did a fantastic job organizing outreach and the conference. It was a wonderful day and I was so grateful for the opportunity to meet so many wonderful people. I think Donna and Ashley must have been laughing at me as our plane descended from the clouds. Perhaps I just happened to be in Puerto Rico during a time with a lot of thunderstorms, but the entire trip there were the most amazing clouds in the sky. They were amazing even as the plane dropped down out of the sky. Below I could see a rainbow between the puffy clouds that looked like suspended cotton balls. It seemed like a great way to start any trip. Although I lived near the ocean when we lived in Germany, the ocean around Puerto Rico is nothing like the North Sea. From the plane I could look out and see the white caps on the waves and water that was such a deep blue – not a chilly gray like the North Sea. As the island came ...

I'm so behind on posting about the trip to Puerto Rico. Since the episode of Mystery Diagnosis on Hermansky-Pudlak Syndrome ran right after we got home, it's been a little busy. These, however, are my favorite pictures from Puerto Rico. I know, not pretty senery etc - but these little guys and gals inspire me. They are the next generation of folks with HPS, and if we keep up the hard work, they will live better lives because of it. They motivate me.

I am so overdue posting these pics. This is an unofficial HPS get together in Boston. It was Franie the Cat and Maria's birthday. I've been meaning to post since before Puerto Rico. I'm just THAT far behind. I love these pics - and this get together - because really it has nothing to do with HPS. These are just a bunch of friends who enjoyed spending time with each other - don't they look like they're having a great time? I wish I could have been there too!!!!!

Cesily Ramos, author of the just-released book Embracing the Mystery, is donating $5.00 from the sale of each book to the Hermansky-Pudlak Syndrome Network. Embracing the Mystery is a collection of Ramos’s personal reflections and poetry inspired by her search for a diagnosis and experiences living with a chronic health condition. Ramos has Hermansky-Pudlak Syndrome. The book is available for purchase from http://www.blurb.com/bookstore/detail/1526943. Ramos has lined up further donations for the sale of each book from the following organizations: Union 28-PA Bagel Express-PA Sky's the limit-Florida Mission Of Hope-Africa Hispanidad Tax Service-PR Free shipping is available for purchases made before Aug. 31st. Enter (in caps) the following codes at checkout. Coupon Code: USD $ coupon code: SHIPPINGFREE GPB £ coupon code: SHIPPINGFREE1 EUR € coupon code: SHIPPINGFREE2 AUD $ coupon code: SHIPPINGFREE3 CAD $ coupon code: SHIPPINGFREE4

The following message appeared on one of the listservs I belong to: As so many of my readers are either HPS'ers or other folks with low vision/blindness, I thought some of you might be interested. It looks like a great opportunity to me. Colleagues, Be a part of the team. We are pleased to share the following Regional Disability Integration Specialist opportunities at FEMA. These positions will lead, support and facilitate FEMA’s commitment to inclusive emergency preparedness, response, recovery and mitigation: Positions are open in all ten FEMA regions: Philadelphia, PA http://jobview.usajobs.gov/GetJob.aspx?JobID=90118572&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability&sort=rv%2c-dtex&cn=&rad_units=miles&brd=3876&pp=50&jbf574=HSCB&vw=b&paygrademin=12&paygrademax=12&re=134&FedEmp=N&FedPub=Y&caller=advanced.aspx&AVSDM=2010-08-17+13%3a59%3a00 Atlanta, GA http://jobview.usajobs.gov/GetJob.aspx...

If you missed the show, it will air again on Saturday, Aug. 21st at 5:00 pm.

Last night was a big night in HPSland. Our own Karen Tillman's diagnosis story was featured on the popular Discovery Health show, "Mystery Diagnosis." It was emotional to watch because I know Karen very well and because we share these HPS experiences. The entire HPS community is all a flutter with excitement and expectation about what this show might mean for us. That might seem strange to an outsider. But for us, the exposure could mean so much. It could mean that someone out there affected by HPS gets a diagnosis. While we'd never wish for anyone to have HPS, having it and not knowing can have terrible consequences, as you saw in the show. Had the doctors known and understood HPS, they might have treated my case differently, and perhaps Karen's too - who knows. For us, it's neither here nor there - but for people who are sick now, it could make all the difference in the world. We're also hopeful that maybe the show planted a seed in some doctor's bra...

This was a quick trip and it was all business. We didn't sight see, but I wanted so badly to have some photos that were a sort of flavor of what Puerto Rico looks like. These photos were all taken from the car window. I don't know what it was, but Puerto Rico had some of the most beautiful clouds because there was always a variety of cloud types in the sky with the light bouncing off of them.

The HPS Network Puerto Rico team appeared on WABA 850 am radio in Puerto Rico. Hilda, Mervin and Rinitza (I know I just messed up that name.......I'll check it with Yeidyly.) did the talking. Donna and Ashley sat in a chair in the corner so I ended up sitting at the interview table. It was a little embarrassing moment because the host spoke to me. I introduced myself, but that was as far as my Spanish went. Grin! I wasn't intending to speak - I was just looking for a place to sit out of the way.

This last week we added one new person to the HPS patient registry. That puts us at 80 to go on this year's Hundred People Search challenge! We, of course, also have a stack of new people from the conference, but they still have to be processed. Some don't have a confirmed diagnosis. Others might not be new to the registry, so we don't count them, etc. I will post more about Puerto Rico over the next few days, probably mostly pictures until I get home and have some time to write.

This item was on a listserv I belong to and I just thought I'd pass it along for anyone interested. The National Federation of the Blind (NFB) Jernigan Institute will host an accessible election technology seminar for developers of election technology on September 13, 2010. This seminar is one of the activities conducted by the Jernigan Institute under its Help America Vote Act Training/Technical Assistance grant from the United States Department of Health and Human Services. One of the purposes of the seminar is to inform election technology developers about the experiences of blind and low vision voters with accessible voting technology. We need your help to provide election technology developers with as broad a range of voter experience as possible. If you are blind or have low vision and have used an accessible voting system in a federal election, please send an e-mail describing your experience, the city or county and state where you voted, and the type of accessible voting sy...

Contact: Donna Appell, President and Founder, HPS Network, (516) 922-4022 or e-mail: dappell@hpsnetwork.org. Date: Aug. 9, 2010 FOR IMMEDIATE RELEASE Discovery Health’s “Mystery Diagnosis” will feature one of the most common genetic disorders in the Puerto Rican community Oyster Bay, NY – The Discovery Health program “Mystery Diagnosis” will feature a rare form of albinism that is one of the most common genetic disorders among people of Puerto Rican background on Aug. 16th. The program documents the diagnosis story of Karen Tillman, a woman with HPS who lives in Greensboro, NC. HPS is frequently not diagnosed until a crisis event occurs – a reality that doesn’t need to happen since testing is relatively simple. HPS involves albinism; however, the appearance of people with HPS varies widely from a very blonde and light complexion, to dark skin and hair with albinism only affecting the eyes. HPS also causes a bleeding disorder that varies from mild to severe and life threatening. This bl...

Chediak-Higashi Syndrome is another rare type of albinism. It's a kind of cousin disorder to Hermansky-Pudlak Syndrome. The HPS Network, for now, serves as a kind of home for the Chediak-Higashi Association. Below is a really heartwarming story about Samantha, a kid with CHS. If you've ever thought about being a bone marrow donor, you should read this. We are hoping that later this year we might be able to have a special small conference for families affected by CHS and some of the experts in the field. To be honest, the big issue is funding. Our budget is already stressed - but this just needs to happen. Sometimes you just have to decide something is going to happen, and then figure out how. The duckling watercolor (featured on the side of the blog) is a modest effort on my part to kick off the Chediak-Higashi Conference Fund. Here's Samantha's story: Blood Ties: Samantha Galauskas meets her bone marrow donor Samantha Galauskas, a four-year old from Illinois and Shaila...

Contact: Donna Appell, President and Founder, HPS Network, (516) 922-4022 or e-mail: dappell@hpsnetwork.org. Date: Aug. 8, 2010 FOR IMMEDIATE RELEASE HPS Network supports conference on experimental lung disease research Oyster Bay, NY – The Hermansky-Pudlak Syndrome Network is a platinum-level sponsor of “The Lung Epithelium in Health and Disease Conference” to be held Aug. 8 – 13, 2010 in Saxtons River, Vt. The conference is one of many held by the Federation of American Societies for Experimental Biology (FASEB). The conference’s presenters include some of the nation’s leading researchers specializing in investigating the mechanisms of pulmonary fibrosis. The event is being organized by Dr. Michael Beers (who attended the 2010 HPS Network New York Conference), Dr. Rama Mallampalli and Dr. Barry Stripp. The agenda includes several presentations on Hermansky-Pudlak Syndrome. HPS researchers Dr. Susan Guttentag and Dr. Lisa Young will be presenting and participating in the conference. T...

This is a fantastic book – definitely five spoons on the spoon scale. It’s the story of Henrietta Lacks, an African-American woman who might have been lost to history were it not for her very special cells, the hard work of author Rebecca Skiloot and the help of the Lacks family. Mrs. Lacks was a cervical cancer patient at John’s Hopkins hospital in 1951. Without her knowledge, doctors took a dime-sized biopsy of her cancer tumor. It was then passed along to researchers at the hospital who were working on the problem of how to grow cells indefinitely in a lab. Like most scientific endeavors, there was a huge failure rate, but the scientists stuck with it. Then, along came Henrietta’s cells. Her cells became known to science as HeLa cells. They’ve been to the moon and sent around the world. According to the book, if we were able to weigh all of the HeLa cells in existence today, they’d be about 50 million metric tons – about the same as 100 Empire State buildings. Before anyone e-mails ...

I love updates like this one. I feel GREAT! My sleep patterns are all wacky, but I’ve tapered down on the steroids now and am back to all my normal doses. I decided that since my fatigue, GI stuff and the steroids seemed to make every day a new adventure with no idea what to expect, that I wouldn’t stress about the sleeping. If I wanted and felt like working in the middle of the night I’d do it, and if I wanted to sleep through the day, I would. Somehow I really do get more done that way. If only the rest of the world preferred to work at 1:00am! Now that I’m feeling very well and everything is normal, I’ll start working on normalizing my sleep again. I’ll have the help of traveling with a very strict schedule to get me turned around.

I finished this painting last night. It was fun to paint! I'm trying very hard to "loosen up" on my style. It's hard for a control freak like me! Grin! Hopefully I'll get better at it. It's 11 by 14 inches on stretched canvas. For now, it's for sale from me, not the Network. That may change if I get a venue to display things for the Network and I need some paintings to fill in the space. I'm asking $50.

More pics from the HPS Zumba dancing at the Saturday night dinner.

During the past five years I haven’t been much of an avid reader. When I was in college I ate up books. I marked them up, wrote notes or reactions in the margins and highlighted them to death. I had plenty of time to read back then. I’ve always preferred non-fiction to fiction. Perhaps it’s a reflection of my journalism training, but a work of fiction has to be really, really good or I get bored quickly. Last Christmas Ryan and Sara gave me an iPod. It’s now up there with my must-have possessions. I can live without cable TV, but not without my iPod. As a legally blind person I used to get free books on tape from the Library of Congress. I haven’t done that in a long time. For all I know the technology has changed a lot, but I found having to buy the special four/track tape recorders cumbersome. It seemed like they were so fragile, yet so expensive. I was always sending them in for repairs. My iPod has allowed me to re-discover audio books. It’s so small I can lay in bed at night with ...

FOR IMMEDIATE RELEASE CONTACT Donna Hill, Head of Media Relations Dennis HR Sumlin, President Performing Arts Division, National Federation of the Blind (917) 903-5650 denmaster77@gmail.com www.padnfb.org Blind Recording Artists Sought for Multi-Genre Compilation Help Support Scholarships for Blind Performers New York City, NY (August 4, 2010): Dennis H.R. Sumlin, President of the Performing Arts Division of the National Federation of the Blind (PAD, NFB): www.padnfb.org has announced that the volunteer-run nonprofit is now taking submissions for "Sound in Sight Volume 2." A follow-up to the organization's popular "Sound in Sight Volume 1," The new multi-genre compilation will feature recordings by the nation's finest blind and visually impaired recording artists. Artists selected for inclusion will receive 5 copies of the CD and have the distinction of helping PAD's innovative programs for blind performers. PAD awarded its first $1,000 Mary Anne Parks P...

I have been meaning to post this for several days, but I'm so swamped I just haven't had time to convert the flyer into a little news story. For those of you who don't know the Vision for Tomorrow Foundation, they raise money for eye disorder research and have funded research on albinism. The day sounds like it will be a blast. I decided it would be better just to post a link rather than miss posting at all. If you're in the greater Chicago area, check it out. http://www.visionfortomorrow.org/familyparty2010/

This is also from the American Thoracic Society's Washington letter today. It's an update on how the funding for various government programs impacting lung diseases and lung disease research is doing in the Senate. I couldn't copy the chart mentioned, but if you'd really like to see it I'll send it to you, along with where to subscribe to the newsletter if you'd like to do it yourself. Senate Panel Approves 2011 Health Research and Services Funding The FY2011 appropriations bills have been moving through House and Senate subcommittees and full appropriations committee's over the past few weeks. On July 29, the Senate Appropriations committee, chaired by Sen. Inouye (D-HI), approved the FY2011 Labor-HHS-ED Appropriations bill, following subcommittee action earlier in the week. The Senate bill proposes $577.8 billion for the Department of Health and Human Services, a decrease of $32.456 billion over FY2010. The Senate Labor-HHS bill includes a $1 billion fund...

The following was taken from the American Thoracic Society's Washington letter sent out today. I think it's great news for lungs everywhere. I would urge, however, that when the experts are thinking of cross-institutional projects, that they don't forget about the role of genetics. Many lung disorders, not just HPS, are either directly caused by, or influenced by, our genetics. Senate Committee Calls for More Lung Disease Research The ATS has achieved a victory towards increasing research support for lung disease in its Year of the Lung campaign! The Senate FY2011 health research and services spending, known as the Labor-HHS-ED Appropriations bill, includes language that the ATS recommended concerning lung disease at the NIH. The language, which is a directive to the NIH director, states, "The Committee encourages the Director to work with the NHLBI, NIEHS, NIAID and FIC to develop cross-Institute initiatives on the causes, identification, treatment and prevention of l...

I finished this painting last night. It's done from a photograph I took after going to church with my grant aunt in St. Louis. She goes to Kirkwood United Methodist Church, and these flowers were in a flower bed at one of the houses across the street from the church. It's a little on the abstract side - but not too much. It is 11 by 14 on stretched canvas. I am selling it, but for now not for the Network. I actually have some big bills coming my way in September, so it's going to the Heather co-pays for the doctors fund - grin! Don't worry, I have enough money for the doctors - but getting a freelance gig or selling some artwork would provide a little padding for fun.

Here are a few of my favorite pics from St. Charles - where we went when I was visiting my great aunt. The top two I actually took through a window in a moving car - they came out pretty good considering!

I posted the video below for a few reasons. First, this is such a cool program. I've posted about it several times before, and when the application process is open, I post it to our Yahoo groups etc. As many of you know, we were trying to enter a grant into this same contest. I was pretty frustrated last night. I spent about 15 hours on our application. The last day every time I tried to get in to add our video - the last bit - the site either wouldn't let me in, or gave an error message. When it came time to enter your grant, I FINALLY got in four minutes after the stroke of midnight and kept getting error messages when I'd try to submit. It's like trying to call radio station to win a big prize, you just can't get through. All 1,000 spots were filled in under 17 minutes. At least when you call the radio station you know what's happening - you know if you get a busy signal or a try again. This didn't really tell you anything, which just made me really frust...

The opportunity to go to Puerto Rico has reignited my interest in tracking down family history. This week I attempted to draw my family tree from my great grandfather Jose Hernandez. No wonder when a child is born with albinism, the most common response of the family is, “We don’t have anyone in the family that had albinism….” In just a few short generations I have cousins I never knew about, let alone do they likely know about me. I don’t know if I’ll be able to meet any distant relatives in Puerto Rico, but I had the idea of making a scrapbook of our part of the family tree to take as a gift. I do want to tell them about HPS, to tell them they might be carriers of this gene. I don’t want to discourage anyone from having children, but should a child be born with albinism, my hope would be it wouldn’t take them 29 years to be diagnosed with HPS as it did for me. Who knows, maybe in a hundred years passing on this sort of information won’t seem as vital because an instant genetic map wo...