Living on the frontlines

This week we added a new member to the HPS Network registry. This puts us at 89 to go for the Hundred People Search this year.

Tomorrow night we're sending out the first edition of the new HPS Network e-newsletter. You can sign up at: The first edition of the new HPS Network e-newsletter should be going out tomorrow night. If you want to get it, and you haven't signed up yet, go to: http://eepurl.com/eWT9w

I'm passing this along from a friend: Less Than One Week To Go Hi all, You may recall last month I sent you an email explaining that the guide dog who was with me in the World Trade Center, Roselle, had been nominated for an American Dog Hero as part of a contest put on by the American Humane Association. Roselle is well in the running for the American Humane Association Dog Hero of the Year award. She leads the guide dog pack and can win the grand prize award as well. Although Roselle past away last month she is still eligible to win and would be a good representative not only for guide dogs, but for all of us as a way to help emphasize that blind people can be anywhere and can work in the world just like light dependent persons. Please visit the following web site and help us push Roselle to victory. Thanks. Here is the address to vote for Roselle. Simply login or create an account and then vote for her. You can vote

Below is a video I wanted to post just because my friend Casey did such an awesome job with it. She tells the story of how she was diagnosed with Hermansky-Pudlak syndrome, or HPS. Casey thought she had ocular albinism. The pigmentation among people with HPS can vary widely, so often those affected think they have ocular albinism. Casey saw the Mystery Diagnosis show, and that is how she was diagnosed. Now, she's making a difference by helping to educate others about HPS.

Through the wonders of the internet, in the last few months I learned of the story of Melanie Cottle, a little girl in the UK who just died of Chediak-Higashi Syndrome (CHS). Her story is both sad, but also inspiring.   Melanie was only diagnosed with CHS this past Christmas at 11 years old. I don’t know the medical specifics of her case. I only know what appeared in media reports, some of which didn’t even spell Chediak-Higashi correctly. It sounds as though she may have already been in the accelerated phase of the disease by the time she was diagnosed. To make matters worse, Melanie had a very rare blood type. Her doctors and family undertook a nationwide call for blood donors across the United Kingdom. People from high and low tried to do what they could to help. It was inspiring to see how a little girl’s need could bring people together. The coverage not only helped Melanie, but it brought the importance of being a blood donor, if you can, to a wide audience. It brought a

Karen Tillman gave a presentation on HPS and coping with life’s struggles at the First Baptist Church in Whitsett, N.C. on July 17th. She spoke about coping with life’s struggles, and then showed the Mystery Diagnosis film featuring her story. “Everyone has struggles in life, not just us,” said Tillman, “I explained HPS and then spoke about how Christ was an example of how to deal with the challenges life gives us.” During the Q&A session, Tillman talked about the importance of being an organ and blood donor. “The audience asked really good questions. I was impressed,” she said.

The Hermansky-Pudlak Syndrome Network participated in Gene Day on the Hill, June 23, 2011 in Washington DC. The event brought together many representatives from groups representing genetic disorders to advocate for issues of common interest. HPS Network President Donna Appell, and her daughter Ashley represented the HPS Network at the event. Collectively, Gene Day on the Hill advocated for three issues: • Funding for title V (child and maternal health programs) in the 2012 federal budget • Funding for the National Institutes of Health and the new National Center for Advancing Transitional Sciences • The maintaining of funding for the National Center on Birth Defects and Developmental Disabilities Read more on each of these issues in the related articles.

The HPS Network is a sponsor of The Gordon Research Conference: Lung Development, Injury and Repair. The conference is to be held Aug. 14 – 19, 2011 at Salve Regina University, Newport, RI. The conference will emphasize mechanisms in lung development, injury and repair and focus on new advances in these fields such as microRNA, systems biology, and bioengineering. By bringing together a diverse and outstanding group of investigators to present the most up-to-date advances in these related fields, the conference hopes to encourage creative and multidisciplinary approaches that will ultimately facilitate development of innovative and effective therapies. To learn more about The Gordon Research Conference, go to: http://www.grc.org/programs.aspx?year=2011&program=lungdev

This week we have a Hundred People Search update. We've added one person to the HPS registry. We've got 90 left to go. Keep up the outreach. We don't want to leave anyone behind!

We are so excited that a trailer of the film RARE is now available on YouTube. This film follows Donna Appell and the journey of the HPS Network during our drug trial several years ago. But, the story is wider than that. It is an experience shared by rare disease groups across the country and the world, each trying to encourage research and find treatments. It's alsos the story of medical research and how places like the NIH are so important to our country. You can see the trailer below. Please don't just watch - go to YouTube http://youtu.be/kC6j-Of55rw  and like the video. Even better, leave a comment. It would be awesome if we could demonstrate a grassroots effort to get the film attention. To do it, we have to raise money, of course. Help us "make the sale" by showing a wide interest in the film.

This is one of the items that came across my desk. I though I'd post it in case anyone could benefit. Good Luck! Greetings Colleagues, Business Leadership and Superior Training (BLAST+) for blind entrepreneurs is quickly approaching. I need to find some successful blind owners of businesses to highlight at this training, networking and leadership development event. If you know of any of the following: 1. Blind individuals who have recently had successful case closures because they became employed as a small business owner. That is to say, they opened their own business with or without rehab support… we need to know about them. 2. If you are a successful blind business owner, I would like to hear from you. If you know of rehab counselors or employment specialist or agency self-employment specialists I would like to be in touch with them. We have a few all-expense paid trips to the BLAST+ conference available. The BLAST+ conference will spend significant time this year