Living on the frontlines

This message was posted on the Facebook discussion group for Year of the Lung some time ago but I only just today found it while looking for something else. I thought I'd pass it along to our lung transplant crew. Grin! Just in case you might be interested..... Joanne Schum 2nd Edition: "Taking Flight: Inspirational Stories of Lung Transplantation" Looking for Stories"Taking Flight: Inspirational Stories of Lung Transplantation"The new year has begun, and I am now ready to do the 2nd Edition of Taking Flight!!!!If you, or you know anyone, anywhere in the World, any lung illness, is a recipient, carer, family or friend of someone who received a lung, lungs, heart/lung transplant - this is an opportunity to get your story published.Many details are still being accomplished, but this is the first message to let you know the opportunity.Just a bit about the book.It will contain stories that the contributors write themselves, a family member, whomever they would lik

This year we had more exhibits than ever at the HPS conference, something I only hope will grow. Thanks to Tommy for taking these pics. Unfortunately, I had spent the entire night at the hospital with an HPS'er, so I missed the first part of Saturday and the circle. I simply had get at least two or three hours of sleep. I hated missing any part of the conference.

Kevin had asked me to keep a diary before my NIH trip in June, and so far I’m doing a really lousy job! Last week I had more than the usual amount of upset tummy issues. As often happens after a few days of the runs, I’m now better in that department, but have developed a kind of skin ulcer-like thing the size of a quarter under the stoma. This seems to be the pattern. I think despite all the ostomy products we use to try to keep the skin protected, when things are bad, it’s just hard to prevent. Now this sore is bleeding. It doesn’t bleed tons, and when I have it uncovered, it does stop – but it’s kind of oozy. I have spent the past two nights up because I had to keep changing things. That means, of course, my sleep patterns are all out of whack again. You can’t really blame it on fatigue, however, when you haven’t slept. Tonight things are better, but I’m awake again. I’ll have to start working on getting the schedule right again, but tonight I think I’ll just work until I can’t any

This is Luz - someone please correct me if I spelled her name wrong. I think she's new as she's an HPS'er I don't really know very well. Everyone that got to know her at conference loved her. I feel so bad because I think I barely even got to meet her. I hope she's able to come again next year so maybe I can get to know her better.

Today Donna, Renee and I finished a grant application. Say a few prayers that we are awarded this grant. It would help to cover some (but not all) of the bills for conference. It would also help us fund continued outreach in New York. (This grant money has to be spent in the state of New York – not hard for us to do for sure as New York has a higher than average HPS population.) I am moving onto working on another grant that I hope would help fund some of our medical show outreaches. I had started it, but then this New York grant opportunity came along and was due right away – thus we dropped everything to finish it. If there’s a grant dance – like a rain dance – now’s the time to shake it baby!

Just a quick post as some folks are saying they aren’t able to keep up with all the mail on the listserv and they want to know how things are going with some of our family. I don’t normally post this stuff because I don’t want to invade someone’s privacy so I’ll only share what I know has been shared outside the listserv, and therefore, is in the public domain. Janet, last I heard, is still in the hospital but it sounds like she’s on the verge of getting out. I think when you’ve had a transplant and you have to take those immune suppression drugs, it’s just par for the course that sometimes you’re going to get nailed by a bug. Her husband says she’s doing okay though. Continue to keep them both in your prayers. Carmen M. seems to be doing better by the reports of those that have seen her. She is such a trooper as I think she’s been in the hospital most of the time since February. There was a photo of her on facebook with some HPS friends and she was flipping the camera the bird. Norma

As I have so many friends and readers - some with albinism or HPS and some without - I get a lot of info about blindness/low vision stuff. This is another of those items I really don't know a lot about, but I'm passing it along. If you're interested, you can check it out. The Fellowship for Leadership Development sponsored by National Industries for the Blind (NIB), is a salaried, two-year program that combines business-focused, on-the-job experience with formal management training. Legally blind people who have an undergraduate degree, work experience, and passion for business are invited to apply. Fellows are selected on academic achievement, experience, motivation, references, and personal interviews. Fellows who have completed the program have moved to management jobs gaining financial independence and, as business leaders, have added value at all levels of the workplace and society. To learn more about the NIB fellowship and apply, go to and click on the link for the

Tommy Tillman took this pic and I really like it. Not only is it a pic of me with some of my best friends in all the world, but it's also a nice pic to show how different the phenotype of HPS can be. Everyone here has HPS - not just the blondes.

This is Rosa - I was so pleased to see her come to conference this year. I had heard she wasn't coming, but she made it. I was so glad of it. These are Carmen's boys. They've pretty much grown up in the HPS Network. Neither one has HPS, of course, but they've volunteered at conference and been a part of the family pretty much for most of their lives. Christian, the older one, is currently making his decision about where to go to college. Remember doing that? I remember feeling like it was the biggest decision of my life, but actually, it turned out to be important, but not as huge a deal as I had thought. I ended up transfering schools after a year and a half. This is Renee in the green. You may very well talk to her when you call the HPS Network as she works in our office. Here she's with Gina. Gina did a lunch training at the conference I intend to blog a lot about when I get finished with the two grants I'm working on right now. This is Paul from Ireland

I am very sad to say we lost another HPS'er this week, Enrique. He lived in the Boston area. His family has been involved with the listservs and the Network for the past year at least. Enrique is but another example of why we must so urgently find better treatments, and someday, the cure. He was only in his mid 30s. Please pray for his family in their time of grief that they find some comfort and peace. Please also pray that the memory of HPS'ers like Enrique does not become a point of desperation in the battle to cure HPS, but rather only helps to fuel the urgency and continue to motivate our community in our quest. Please honor his memory by working to make life better for the next generation of HPS'ers. Rosemary posted Enrique's service, I am passing along the information: " El servicio funebre para Enrique se llevara a cabo el sabado 1 de mayo de 2010, de 1:00- 4:00 pm. En John Breen Memorial, 122 Amesbury st, Lawrence Ma 01841"

I thought this was great and just wanted to share it. I've been pushing out our little press release and saw this. Actually, it came out in March. I don't know how I missed it. I need to get on their press list. The HPS Network was unable to attend this meeting in person. It was both a function of scheduling issues as well as a budget issue. I would have gone, even if Donna couldn't, but we're having to watch the budget very carefully right now. (As if we don't always - groan). It's also sort of nice to see the "I" dropped for idiopathic in most of the text. It seems less exclusive. Pulmonary Fibrosis Patient Organizations Applaud Effords of Patients, Families at FDA Hearing PF Patients Plead with FDA Advisory Panel to Hear Their Voices, Understand Their Plight The Coalition for Pulmonary Fibrosis (CPF) and the Pulmonary Fibrosis Foundation (PFF) ) are applauding the efforts of Pulmonary Fibrosis (PF) patients and family members for their work to conve

Oyster Bay, New York – The Hermansky-Pudlak Syndrome Network (HPS Network) awarded the American Thoracic Society (ATS) its World of Difference award at the 17th annual HPS Network Conference in Uniondale, New York. The award recognizes the tireless work on the part of the ATS to advocate for the needs of patients with lung disease. Graham Nelan, Deputy Executive Director, Program and Development and Courtney White , Manager, ATS Research Program and Public Advisory Roundtable from the ATS, were on hand at the HPS Network’s annual gala dinner to accept the award. The World of Difference Award honors those whose advocacy work has benefited people affected by Hermansky-Pudlak Syndrome. HPS is a rare form of albinism that also involves a bleeding disorder, and other health problems. Those with HPS types 1, 2 and 4 develop pulmonary fibrosis, a scarring of the lungs, often at a young age. Currently there is no treatment for pulmonary fibrosis and many of those with HPS pass away from the lu

Kyoko Hashimoto, ambassador of the Japanese Hermansky-Pudlak Syndrome Association (JHPSA) and Takuma Ishii, Assistant Professor, M.D. Pediatrician, Clinical Geneticist, and Clinical Cytogeneticist, Department of Public Health and Genetic Counseling Program, Graduate School of Medicine, Chiba University and Division of Genetic Counseling and Clinical Genetics, Chiba University Hospital, attended the HPS Network Conference in New York. The JHPSA, founded after a meeting between two Japanese citizens with HPS in Tokyo, currently has seven members. The JHPSA maintains a Web site and Yahoo! group. According to papers from Japan published in American medical journals, it’s believed HPS may be the second most common type of albinism among people of Japanese background. Ambassador Hashimoto brought a written copy of the story of her life to share. Below are some of the highlights. Hashimoto was born in Osaka, Japan in 1962. She was born with black hair, therefore was not initially diagnosed wi

Here's a photo of Karen with Dr. Gochuico, the lung doctor that is working on HPS at the NIH. One of the highlights of the conference is the informal time you get to spend with the doctors and researchers. They see us outside of a clinical setting, and we see them outside of the hospital. It makes us all a bit more human to each other. Photo by Tommy Tillman

Once again the HPS Network is issuing the Hundred People Search Challenge to its members and supporters. The Hundred People Search or H.P.S. Challenge is meant to empower members of the HPS Network to begin to educate their communities about the syndrome, thereby creating greater awareness. While we would never want anyone to test positive for HPS, we know that it is far more dangerous to have HPS and not know it. It’s our goal to find 100 new HPS’ers during the course of a year. Last year the Network helped 74 people with HPS get a diagnosis. Members of the HPS Network help with outreach in big ways and small ways – but all vital to the effort. While some help by attending medical conferences and manning a booth, others help out by speaking to their vision teachers, vocational rehabilitation counselors or physicians about the syndrome. To help them, the HPS Network has created “Presentation in a Bag.” The presentation bag contains a ready-made Powerpoint, note cards in large print tha

Brenda and her husband at Champions. Here's Julie and Paul - Paul was one of our international attendees from Ireland. Paul and Tommy chatting in the bar at Champions.

This year, for the first time at the HPS conference, we had Karaoke. It was a big hit. Ashley and Mervin did a great job putting it together. Even some of the docs got into the act. Here's Dr. Seward singing.....

I took this photo at The Carter House on the grounds - I just like it - I put it in my idea file for future paintings.

Once again the HPS Network is launching this year's Hundred People Search. So far it's been behind schedule, however, Dr. White has been on vacation so new families haven't been able to get the test this past month. We do have one new person this week, so that puts us at 99 to go on this year's Hundred People Search.

The HPS Network is urging support for the Congressional Year of the Lung resolutions, H.Res 1122 and S. Res. 432, sponsored by Reps. Lewis (D-GA) and Stearns (R-FL) and Sens. Lincoln (D-AR) and Crapo (R-ID). H.Res. 1122 currently has 9 bipartisan cosponsors and S. Res. 1122 has two cosponsors. Both resolutions must gain many more co-sponsors to secure House and Senate passage. The Year of the Lung is an international effort to bring more attention to the plight of those that suffer from all sorts of lung diseases. It is hoped the momentum and attention generated by the Year of the Lung will help to make decision makers more aware of the greater need to fund lung disease research and find better treatments and someday, cures. The HPS Network would also like to thank those Congressional representatives who have already shown support for the resolution, including: Reps. Baldwin (D-WI), Chandler (D-KY), Ehlers (D-MI), Kennedy (D-RI), Moore (D-KS), Murphy (D-PA, Neal (D-MA), Stearns (R-FL)

Here's our great friend Maria with the purple one - grin. Keep praying for Maria - she's still waiting for that new lung.

Below is a brief article that was published in the American Thoracic Society's newsletter. I am going to write a similar one for HPS, but thought I'd go ahead and post theirs now as it's faster. I've been feeling not 100 percent, so I'm moving a little slow. Year of the Lung is designed to bring attention to the need for more funding and public health attention for lung disorders. Although lung problems are leading killers, they don't begin to get the funding and attention of other organ systems. For example, although the pulmonary fibrosis of HPS is rare, pulmonary fibrosis in general kills as many Americans every year as breast cancer, yet has a fraction of the funding or public support. (Not that I'd ever want to take anything away from breast cancer.) If you want to help, you can contact your Congressional representatives about this resolution. A resolution doesn't carry the same weight as a law, but it will help to increase Congressional awareness o

It's true - I can't spell. Here's one of those spelling moments. You know it's bad when spell check doesn't even know what you're trying to say. While the adults were attending the Year in Review session Friday night at conference, the kids were attending a book reading by a children's author. His book is The Purple Platapus - see, can't spell. English teachers and copy editors everywhere are probably rolling over in their graves.

The HPS Network is honored to receive a grant of $10,000 from the National Organization for Albinism and Hypopigmentation (NOAH). NOAH, a national organization for those with all types of albinism, has been a long time supporter of the HPS Network. As an umbrella organization their donation creates deep friendships between the albinism community and the HPS community. The funds will be used to further the mission of the HPS Network on its journey to find a cure.

So many of you are so sweet and always ask me about how Ryan and Sara are doing. I'm happy to report they're doing "GREAT!" They have no idea what a celebrity couple they are in HPSland. I think there wedding was a rare chance for many in the HPS community to get together for something totally unrelated to medicine - it was just a chance to celebrate a happy occassion and have fellowship and fun. Ryan probably won't like the botton pic, but I like it. That expression is sort of so typically him. I took these photos when we were visiting the Carter House and gardens.

I've been talking to Kevin about returning to the NIH for my one-year post protocol follow-up visit. It looks like I'll be going the end of June. Some of the rules at NIH have changed, or tightened, depending on how you look at it. I used to be able to squeeze in a weekend in DC with my NIH visit. I have so many friends there, as well as family. NIH can no longer allow us to stay in town longer than we would if they're paying for the travel. It's a bummer, but I do understand. It's funny. During the protocol, as hard as it was to take the time off from work, I could hardly wait to get to the NIH. I was always worried they'd find me a little to happy about staying in the hospital. While I was working, however, frankly I never felt good. I was always under massive amounts of stress and every four months felt as though I was on the verge of complete and total exhaustion. Frankly being "in the hospital" was a welcome and much needed rest. Now, although I&#

Photo by Tommy Tillman

This is Chris from the UK. He's our newest moderator for the HPS adults listserv. We now have about 100 people on the HPS adults listserv and it's a very active little community. It takes seveal hours a day to moderate, thus we added Chris to help Carmen and I get through all the messages. We find the community is more active when the messages don't sit too long before they go through. It isn't perfect - and we never promised to be an instant messaging service - but we do the best we can.

One of the games I created for the Price is Right involved guessing how much we could make if every member raised a given amount of money. Too often people think they have to do a major project for it to be meaningful. While I'd never want to discourage anyone from the big money maker fundraisers, the reality is everyone can't pull that off - but if we all did just a little it would make a huge difference. For example, if every member of the HPS Network raised just $10, we'd increase our budget by $9,200. If everyone raised $50 a year, we'd increase the budget by $46,000!

This is Maryann Mulloy and Denise Miles, both of whom are long time HPS Network volunteers. They've helped out with conference since long before I even knew I had HPS. Often people wonder why we don't move the HPS Network conference around the country. There are several reasons, but perhaps one of the biggest ones is our volunteers. To keep the costs down we have an army of volunteers that have been with us for years. They know the system. They know the kids in child care. They know our members. They simply couldn't be easily be replaced by volunteers without that kind of connection to the very special needs of our members. They are simiply wonderful.

This is Paula Hern, another one of our wonderful volunteers. She's at the Appell house well before conference helping to get the food situation in order and the conference materials organized in all the right boxes so that loading and unloading is easy.

Renee, who works in the HPS Network office, sent me the following. She saw it on a boat near where her brother has a boat. I think you could easily substitute the word “HPS Network” for “parish.” I can empathize with both sides of the fence. There are some places in my life where I feel like the person who is just along for the ride. I justify this to myself in that the other places where I am involved in my life don’t need me as much as the HPS Network needs me. Still, I know I have to get beyond that to start to develop a more balanced life. It’s hard when you feel like you’re in a life and death race and you’re rowing the boat with golf clubs. I suppose that’s the only advantage to being obscure and unknown. Every single one of us makes such a huge difference, even if we feel like what we’re doing is so small. There are no small jobs in HPSland – we need the cumulative efforts and talents of everyone. As Donna puts it, in the beginning the cure was a dream, but now it’s a race. Here

Here's Nisha and her mom. I was so thrilled they were able to come to conference this year. I've wanted them to be able to attend for years and it just never worked out schedule-wise. I only wish I would have had more time to sit down and really chat with them and get to know Nisha better since we're only a few hours from one another. I just never get that chance at conference, espeically with the kids since they're usually in bed by the time my day finishes.

I'm posting this in case it could be helpful to any of the readers. Readers who are legally blind should be very aware, however, that some of the social security rules are different for legal blindness than for other disabilities - especially the rules for Social Security Disability Income (SSDI). SSDI usually isn't an issue for the 18 to 21 group as they seldom have enough work credits to qualify anyway. Personally, I think this is one of those good government programs that could be great with a few changes. It's one of those occassions where I find the world of disability and the world of chronic illness don't combine well. Some people are disabled, and some people have chronic health issues - and some people have both. The trouble is so often the system doesn't realize the different need set or challenges this involves. Incentives and work opportunities for those of us with both are just a whole other animal. But, that's a blog for another time. PEATC Webinar

Kelsey Thompsonn from NOAH just posted this to a listserv we both belong to and I thought I'd post it here as I know many of my readers have albinism, the HPS type and other types as well. I hope someone finds the information helpful. 2010 Michael J. McGowan Leadership Scholarship Award The Michael J. McGowan Leadership Scholarship Award was established in 2008 on behalf of the National Organization for Albinism and Hypopigmentation (NOAH) to recognize leadership and empower young people with albinism. NOAH will award one scholarship annually to a student with albinism enrolled in an undergraduate program at an institution of higher education. This award aims to enhance educational opportunities for students with albinism while celebrating outstanding leadership qualities similar to those exhibited by NOAH’s dedicated current and past leaders. The 2010 scholarship award will be $3,500. Download the application from NOAH’s Web site . See the 2010 McGowan Leadership Scholarship appl

This is Candice and Crystal, our favorite singing duo. They are known in their career as Angels in Voice. They just held a fundraiser for HPS and I'll be posting more about that later. Stay tuned!

I’ve been so busy that I haven’t really had time to post much about my own life lately. Some of you have missed a little commentary on the blog. I do have a lot to say. This little lessoned learned story happened a few weeks ago. It was definitely a low-vision moment! After traveling for a month, I very, very much needed to deposit some money in my bank account so that my bills wouldn’t bounce. It was getting to be an urgent problem. I walked to my bank, about a mile, and found it closed at 3:00 pm in the afternoon. I was irritated. The ATM wasn’t working and no one inside was responding to me standing at the entryway pointing to the hours of operation. I HAD to make the deposit. Very put out, I walked a little under two miles to another branch to do my business. I asked to speak to a manager as my first thought was that perhaps the bank was failing and the FDIC was inside. He informed me that my bank had been robbed and that was why it was closed!!!! The robbery happened about the tim

More spring photos from the Carter House.

I'm not sure if I've already posted this photo, but I just like it. It's from the garden at the Carter House. I just like this tree - it has an interesting shape.

I had so much to do to prepare for conference that I didn't get to build my game as I would have liked. I had to use poster board that I knew was too small for anyone to actually see - but then again, it at least helped me to follow along.

Blake is the new guy on the panel. Here's Blake. Here Karen is giving out one of the prizes I collected. For months I kept my eye out for things on sale very cheap I could collect to use for prizes. Here Maria's mom won a place on the panel. She was actually quite good at the game. Next to her is Laura, Maria's sister, who was translating. Photos by Tommy tillman.