Living on the frontlines

I'm sooo, soo behind on posting even just the news to the blog. We've been so busy at the HPS Network that it's been hard to take the time to communicate all the great stuff going on. I'm working on it though. In the meantime, here are more conference photos. I love posting them throughout the year because it's sort of like reliving those special moments.  This is Rafael, who did the film about his first conference experience.  This is Randy, who came from Puerto Rico for the conference. He gets the registration gold star! He was one of the first to register!  Letty with her little dog Red. Molly with her guide dog Gwen.

Special Families Magazine , a brand-new Canadian magazine for families with kids that have special needs, featured an article by Selena Tenthoeve, the mother of a child with Chediak-Higashi Syndrome. Selena shared the story of her now five-year-old son Riley, who has CHS. She tells about his birth, diagnosis and journey through two bone marrow transplants. Check out the article (on pages 12 – 13) at: http://issuu.com/specialfamiliesmag/docs/sfmmay2011 P.S. Yesterday a new blog reader who has a child with CHS left a message on the blog. If you're still out there and reading, please e-mail me at: hkdawn@yahoo.com . We'd love to be able to reach you!

This is a movie I found on instant play on Netflix. It’s a nice little romance with a somewhat complicated plot. Charlotte Gray is a Scottish woman living in World War II London. She speaks French very well and gets recruited to be a spy working with the French underground. Before she leaves England, she falls in love with a British pilot. Just as she’s about to set out on her mission, she finds out his plane went down over France. Suddenly her mission is more complicated than relaying intelligence. She wants to find her love, who she hopes has taken refuge with the underground. Her plans to find her lost love get complicated, however, when the French family that has taken her in and provided her cover story rescues two Jewish boys whose parents have been taken away to the camps in Germany. She has to choose whether to look for the love, or save the boys. By the end, things become even more complicated with a new love interest. It was a nice little flick. I don’t remember t

I recently watched the series “Bramwell” from start to finish as if I was reading a book. It felt like reading a novel as I got so engrossed in the story, I kept clicking for the next episode to find out what would happen next. This is a British series set in Victorian London. Miss Bramwell is the daughter of a doctor and forward thinker. He sent his daughter to medical school and the story picks up as she tries to find a job as a woman doc in a Victorian world. As you might expect, it wasn’t smooth sailing. Finally, she sets up a clinic of her own. The story then moves to the lives on the poor patients she serves. I enjoyed the series very much, both for the great story lines and for the glimpse into Victorian medicine. The last season, however, took a departure from the feel of the first three. I didn’t look at the credits to discover if this was true, but it almost felt as though a different writer took over the story. I didn’t like the ending much at all. I guess it

Below is an update on NIH funding from the Genetic Alliance. I just returned, with Candice and Crystal, from the American Thoracic Society meeting. One of the big concerns, both in formal sessions and in informal conversations, was worry about cuts to medical research budgets. Everyone was just about in a panic about it. Without research, there can't be a cure. With more limited dollars, the fight for those dollars will be even more intense. NIH Directors Testify on Budget Request Last Wednesday, May 11, 2011, the Senate Labor, Health and Human Services, Education, and Related Agencies Subcommittee heard testimonies from five NIH directors on the FY 2012 NIH budget request. NIH Director Dr. Francis Collins presented the importance of translational science, the economic benefits of medical research, and the need for continued funding to compete on a global level. Dr. Anthony Fauci (Director of the National Institute of Allergy and Infectious Diseases), Dr. Griffin Rodgers (D

Development is a classy word for fundraising – and let’s face it -no one likes this task. Yet to find the cure for Hermansky-Pudlak Syndrome, there is probably no task that anyone can do in service of the cure with more importance. Very little can happen without funding. The office cannot run without funding. The HPS patient registry cannot run without funding. The conference, even if everyone paid full freight for the experience (and no one does because we subsidize the costs), can’t happen without funding. Most importantly, the biggest thing restricting research into better treatments, and someday a cure, is funding. As federal agencies charged with medical research find their budgets slashed, and as private medical research foundations find themselves with more demands on them as a result, funding is more critical than ever! I’m sharing a link to an article below. It is designed for people who serve on the board of directors for non-profits. It’s about how to ge

A while back, I posted some things about Space Camp for visually impaired kids. This came in my e-mail from NOAH. I'm passing it along to anyone interested. NOAH Announces Space Camp Scholarship! Your child can be a Top Gun or blast off for the stars! Dreams come true during this experience of a lifetime at Space Camp for Interested Visually Impaired Students (SCIVIS). Mary Pinkston, the 2010 Delaware Teacher of the Year, graciously donated a scholarship for a child with albinism to attend Space Camp September 24 - 29, 2011, at the U. S. Space & Rocket Center in Huntsville, AL.   This amazing opportunity allows young people who are blind or visually impaired to remove the word “can’t” from their vocabulary! With modifications for blind and low vision students, SCIVIS attendees select a ‘top gun’ flight training program or a space shuttle training program. Students learn to operate the same simulators used by NASA astronauts and fighter pilots. NOAH b

Below is our press release about the 1,000th person being added to the HPS patient registry. Waleska was good enough to translate it into German for us. Thank you Waleska!!!!!! Datum: 30 März, 2011 Kontakt Person: Donna Appell, Presidentin (516) 922-4022 oder 1 (800) 789-9HPS, oder e-mail info@hpsnetwork.org . ZUR SOFORTIGEN VERÖFFENTLICHUNG Tausendste Person angemeldet für das Hermansky Pudlak Syndrome Network Patientenregister. Oyster Bay, NY - Letzten März wurde beim Hermansky-Pudlak Syndrome Network (HPS-Network) die 1'000 Person mit dem Hermansky-Pudlak Syndrome (HPS) im Patientenregister eingetragen. Das HPS-Network wurde im 1992 von Donna Appell gegründet. Seitdem haben sich durchschnittlich 1,5 Familien pro Woche beim HPS-Network angemeldet. Patienten von der ganzen Welt sind eingetragen. Sie repräsentieren alle Genetischen Typen von HPS die bis heute erkannt wurden, sowie einige, bei denen das Gen noch nicht gefunden wurde. Die registrierten Mitglieder

I'm passing this info along to anyone who might be interested: SAVE THE DATE Thursday, May 26, 2011 The Computer Center for Visually Impaired People (CCVIP) at Baruch College Invites You to a Technology Demonstration Entitled: For Entertainment Purposes Only NEW Times: *1:00-3:00pm or 6:00-8:00pm Where: Baruch College 151 East 25th Street, Room 763 What: In this session, we will be exploring devices and software that are strictly for “Entertainment Purposes”. We will focus on Apple TV, a television top box that brings access to movies, television, music and more to people who are blind or partially sighted with its built in Voiceover screen reading technology. Have you ever been frustrated at not being able to order your own pay-per-view movie on your cable system? If so, Apple TV might be the right device for you. In addition to Apple TV, we will be showcasing accessible apps and products that give us access to radio stations, NetFlix and e

This year's conference theme was the Academy Awards, and we had a ball planning and attending the banquet dinner - a dinner compete with red carpet, photographers and some volunteers armed with toy microphones asking us all what we were wearing on the red carpet. I think everyone had a good time just dressing up for the occassion! We took the group photo this year in the Skylight room, which worked very well. It gave everyone a place to meet out of the way. And, of course, as we waited for everyone to arrive, we made over each other's outfits!

Today was a special day for moms across the world, but for me it was just another day. I called my mom and wished her a happy day. I had found the perfect Mother’s Day card actually, one that is perfect for an inside joke between us, but I hadn’t sent it because she will soon be moving, and I fear with the slow mail service it would just get lost. Otherwise, I spent the day making it a point to avoid Mother’s Day. It isn’t that I have any hostility to the day, or don’t wish mothers everywhere well; rather for me it’s a day that more than most reminds me that I don’t have children, and likely never will. For years this idea was especially painful. With time, I’ve adjusted to it. God has his plans, and honestly, I don’t know how some of the moms with HPS, chronic health problems and small children do it. I marvel at them! They are truly amazing and much under appreciated by the rest of the world. Yet, if I were one of them, I wouldn’t be able to do the things I do now for th

These pics are from a very special session held this year at the HPS Family Conference in New York. This is the Healthy People Sing choir, minus me as I'm taking the pics. Grin! Ashley's voice coach did a session teaching us all breathing techniquess that not only make us better singers, but help to develop breathing muscles. Developing these muscles could improve quality of life as pulmonary function drops. It was good for our lungs, and a lot of fun! Then, we performed the song "FAME" at the banquet dinner!

These photos are from Dr. Sethi's session. She was the dermatologist that presented at the conference, both to the NOAH conference and the HPS conference. Her session was quite popular. When I took photos, everyone hadn't settled in yet.

 Some of the dinosaurs we saw were so huge they were mind boggling. Here we are standing on glass over the spine of a found skeleton. It went the length of a rather large room. Dino Butt! This one was so huge I could never find an angle to capture the whole thing. This is the closest I could come.

This is from an e-newsletter put out by the National Federation of the Blind. It's always nice to be able to give a company kudos for making themselves accessable to everyone! Ticketmaster Makes Web Site Fully Accessible and Fan-Friendly to Blind Users The NFB also announced a cooperative agreement with Ticketmaster, the global event ticketing leader and one of the world’s top five eCommerce sites, to make its Web site fully accessible to the blind. Under the agreement, the Ticketmaster Web site will be made fully accessible to blind users utilizing screen access technology by December 31, 2011. Screen access technology converts what is on the computer screen into synthesized speech or Braille. Pursuant to the agreement, Ticketmaster will develop a comprehensive accessibility program that will include the development of an accessibility guidelines manual, as well as the appointment of both an accessibility coordinator and an accessibility committee. Additionally

This is an item that was in my e-mail. I'm passing it along to anyone interested. The National Federation of the Blind is doing a digital technology survey and is looking for input from the parents of kindergardeners to those with vision impairments in academia or in grad school. If you want to check out the survey further, go to: http://www.nfb.org/nfb/directTechAccess_193.asp

I've just posted a few videos I saw on facebook. They were posted by NOAH. This looks like such a great opportunity for blind and visually-impaired kids. I know my brouther would have eaten this up when he was a kid. Although he's legally blind, he did ROTC in high school, as well as Civil Air Patrol. One of the toughest things about his childhood and having a visual impairment was that he wanted so badly to be in the military. That being said, there was one little comment in the videos that has had me stewing all afternoon. One of the kids who had some vision commented that she liked the camp because she was the one who had more vision for a change, and she could be the one to help the kids with no vision. PLEASE understand I'm not being critical of her. In fact, I had a similar experience at Lions Camps when I was a kid. For a change I was the one with more vision than anyone else, and it was cool to be the one given responsibilities that at home, no one would ever

Sandra, one of our HPS friends from Puerto Rico, needs a new set of lungs. There isn't a lung transplant center in Puerto Rico, so she and her family (two children and husband) must re-locate to Boston. There, she'll be able to be evaluated by a hospital that has done lung transplants for people with Hermansky-Pudlak Syndrome. We also have a wonderful group of HPS'ers in the Boston area willing to help support her. Please join us in this effort to raise money for Sandra and her lung transplant. Thanks! http://www.firstgiving.com/fundraiser/fernando/boston-run-to-remember?fge=ask&utm_medium=share&utm_campaign=share&utm_source=at-facebook&utm_content=mainpage

I was very long overdue cleaning up the blogroll. I still had Ryan and Sara's wedding page up there, and they've been married several years now! I added a new blog, and took off a few blogs that I truly loved, but which seem to be seldomly updated these days. The new blog I added is the Respiratory Decade blog. As regular readers know, last year was the Year of the Lung. In Europe, they're continuing with the Decade of the Lung. I really haven't seen much about it here in the U.S. I had hoped we'd do the same thing here. At any rate, as my readers come from all over the world, I thought you'd enjoy some more globally-oriented blogs as well. Grin! Check it out at: http://respiratorydecade.blogspot.com/

Below is footage of Dr. Gahl, the primary investigator for Hermansky-Pudlak Syndrome at the NIH, giving a talk at one of the TED conferences. It doesn't even mention Hermansky-Pudlak Syndrome, but I've shared it here because Dr. Gahl so welll presents an issue all of us with rare diseases must be concerned about. After all the work and science that it takes to find potential treatments, what happens when those treatments go through the regulatory process? On what basis will they be evaluated, and should the same criteria be used for common disorders as is used for rare disorders? I would argue no. In this presentation, Dr. Gahl spells out an ethical principle - risk vs. benefit. It's a principle I used (although in my own head) to weigh the potential benefits and risks of participating in the drug trial at NIH. Although we believed Pirfenidone was safe (and still do), it's not an experimental drug for nothing. There are unknowns. I was still in reasonably good hea

 Candice and Crystal pose with Lisa, her little daughter Nicole, and her husband.  Our singers rehearse for their performace at the big HPS dinner! Long time friends - with and without HPS - gather at the conference to have a good time!

Marisol Goico, a student at the Borough of Manhattan Community College, turned living with HPS into a class project for her Fundamentals of Speech class. She gave a presentation about the medical aspects of the disorder, as well as her personal experiences as a person with HPS. Go Marisol! Grassroots outreach like this helps to build awareness of HPS. “The students asked a lot of questions. I felt like they were really interested,” says Goico.

A small group of HPS’ers showed off their skin and eyes for physicians attending the 88th Annual Dermatology Conference at Brigham and Women’s Hospital in Boston. Carlos Nieves, Carmen Camacho and Frankie Feliciano all attended the event. The conference gave a variety of disorders related to the skin an opportunity to educate physicians about life with each condition. The HPS group proudly told more than 200 physicians about how to spot nystagmus. They showed off their varying skin tones to illustrate how people with albinism can look very different than the general public imagines. They also explained what makes HPS different from other types of albinism. The group handed out pens and brochures to the doctors as well. “We got a lot of interest,” says Carmen Camacho, “We met several doctors who said they have patients with HPS too. We hope they’ll pass along those brochures.”

Yaritza Rivera was honored May 1st on White Cane Day by the Lions Club of Puerto Rico for following her dreams and achieving her life goals as a person with a visual impairment. The event was sponsored by President Felix Cheveres of the Boriquen Balrich Lions Club and Bart Drich. Yaritza, or Yary as she’s known to her friends, is a long time member of the HPS Network. She co-hosts a radio show on Radio Hit 1250 AM in Puerto Rico.

I need to figure out how to become famous, or at least well connected. As most of you know, Hermansky-Pudlak Syndrome, and finding the cure, is a bit of an obsession. Days like today when I’m working on some of my more “administrative” (fundraising) tasks, I can’t help but feel an overwhelming sense of frustration. What a difference just the right connection would make! What would be chump change to other medical conditions and their groups could radically accelerate, and change the very future of those with Hermansky-Pudlak Syndrome. It just takes money. We don’t have it. If you could go to a workshop and create a group of people from scratch with the intention of making fundraising as difficult as possible, you’d come up with the HPS Network. Yes, I’m sure lots and lots of other non-profits and disease groups feel the same way. For starters, although our numbers increase, on average, by a person a week (and have done so steadily since 1992) – we are still ultra rare. We’r

I was contacted by the albinism group in Italy. They are having a nationwide meeting later this summer and asked us if we'd send a video of greeting from the HPS Network. Karen agreed to help put something together. We thought it would be nice to edit together greetings from a number of HPS'ers. Having our video shown would be great PR! So, if you've got a Webcam and can do it, would you make a short recording of yourself saying.... Hello, My name is (your name) and I'm from (your town and state). I have the HPS type of albinism and I'm a member of the HPS Network. Greetings Italy! Feel free to include family groups etc. When we send them the video, they're going to put Italian subtitles under it.   If you could send your video clips to Karen at: kttillman1@att.net - she'll edit them together for us. If you could send them by Friday it would be most helpful. Karen needs time to do the editing, and then we've got to get it to Ita

 HPS'ers gather for opening comments - here Rebecca, Chris and Emilio are ready to get things started.  Every year we have what we call the "HPS/CHS Family Album" on Saturday morning. It does take a LONG time, but it's one way for all of us with low vision to really know who's at the conference, and to hear, briefly, everyone's story. It helps you identify others you might want to speak with later. Here Rebecca tells about her year at the circle - she got a lung transplant!!!!  Here Carmen and Maria speak at the Family Album Circle.  This is Casey's mom - sorry, blanking on her first name! For shame Heather, I know. And here Diana talks about her year. Diana has gotten quite involved in outreach!

These are a few group pics of our little HPS play date in New York group. This wasn't an "official" Network event - more like a bunch of friends who planned to do something together while we were still all in town.

This is something that came across my desk during my "forced vacation." As I have so many readers who are blind or visually impaired, I thought some of you might be interested. FOR IMMEDIATE RELEASE CONTACT: Chris Danielsen Director of Public Relations National Federation of the Blind (410) 659-9314, extension 2330 (410) 262-1281 (Cell) cdanielsen@nfb.org National Federation of the Blind and Law School Admissions Council Agree to Settlement LSAC Will Make its Web Site Fully Accessible to the Blind Baltimore, Maryland (April 26, 2011): The National Federation of the Blind (NFB) today announced that it has settled a lawsuit with the Law School Admissions Council, Inc. (LSAC) regarding access to the LSAC Web site (www.lsac.org) by blind people. As part of the settlement, LSAC will provide full and equal access to its Web site for blind users by September 1, 2011. Changes will be made to the LSAC Web site that will allow blind users utilizing screen a