Living on the frontlines

Donna Appell, President and Founder of the HPS Network, Jackie Falco and Ashley Appell attended the annual scientific meeting of the New York Thoracic Society to man a display about Hermansky-Pudlak Syndrome. The trio was able to speak to pulmonologists from around the state about HPS, a cause of pulmonary fibrosis. (Sorry for the small print - Blogger is causing me font problems again.)

Parents of those with Chediak-Higashi Syndrome (CHS) will now have the opportunity to chat with one another via telephone once a month. The Jewish Guild for the Blind, in cooperation with the Hermansky-Pudlak Syndrome Network, will host a once-a-month conference call for the CHS community. The call will be moderated by a social worker and will be a free call to those in the United States, thanks to a grant obtained by the Jewish Guild. The first call will be held Feb. 28th, 2012. For more information, or to participate in the call, contact: Heather Kirkwood, hkdawn@yahoo.com. Please put “CHS” in the subject line so your e-mail isn’t mistaken as spam.

Here's another item I'm just passing along in case anyone is interested: Video Description Training for Employment Background: Video description is a tool developed to provide blind people with access to visual information portrayed in videos; however, historically the work force in the video description field overwhelmingly consists of sighted individuals. Beginning July 1, 2012, major broadcast and cable networks will be required to provide video description for some television programs. The growing need to produce video-described programming will create new employment opportunities for blind professionals. This workshop will provide participants with some initial training which could potentially make them desirable to companies who provide video description. Program Details: •Application deadline is March 9, 2012 •Applicants will be notified regarding their acceptance status in early April •When: May 14 to 18, 2012 •Where: National Federation o

Latinas Magazine is looking for young women to join its youth editorial board or to submit story ideas/articles. It could be a great opportunity for any budding writers out there! Here's the link: Information Youth Editorial Advisory Board Website: http://www.surveymonkey.com/s/8WBTJCT Latest Activity: Nov 21, 2011 Share Twitter Facebook Youth Editorial Advisory Board Young Latinas (ages 13-21) who are interested in developing their writing and multimedia skills and getting published in LatinitasMagazine.com are invited to apply. This is a great way to get published, get your voice heard, motivate other Latinitas, make an impact and build your resume. The Latinitas Youth Editorial Advisory Board is a group of young writers ages 13-21 who assist with writing articles for our magazine, blogging, participating in our online community (www.MyLatinitas.com) and providing feedback on the direction of the magazine. Youth writers are selec

Just in case you need a little smile today.

This is another peice of information I'm just posting in case anyone is interested: Dear Colleagues & Friends, Please RSVP to Dawn Suvino at 646.486.4444, extension 14 or dsuvino@visionsvcb.org for reservations not CCVIP. Enjoy! Thank you, Lisa Saunders Attention NYC Young Adults with Disabilities VISIONS and Mobility International USA Invite you to kick-off Summer 2012 in Madrid, Spain! INFORMATIONAL SESSION Monday, January 30th 6:00 – 8:00 PM At VISIONS at Selis Manor (135 W. 23rd Street) Find out how you can be part of a 10-day leadership program with Mobility International USA (MIUSA) this summer. Hear from blind participants who have traveled the globe with MIUSA from Costa Rica to Bahrain and beyond! Applications will be available & representatives from MIUSA will be on-hand to answer your questions. Program is open to NYC residents with disabilities ages 18 – 24 Generous scholarships available Please RSVP to Dawn Suvino at 646.486.

This is information I am just passing along for anyone who might be interested: The National Federation of the Blind Announces the 2012 NFB Leadership and Advocacy in Washington, D.C., (LAW) Program Engaging the Voice of America’s Blind Youth April 13-18, 2012 The NFB LAW program provides blind students with a unique opportunity to explore the inner workings of our country’s government, its history, and its culture. In addition to learning about the history of the organized blindness civil rights movement, how resolutions are passed, and how blindness legislation is created, participants will become familiar with advocacy work for blind individuals and available resources for blind students and adults. Highlights of the program include: visits to historical sites in Washington, D.C., meetings with influential government leaders, and presentations by prominent leaders in the National Federation of the Blind. Read more about this chance of a lifetime in the Summer 201

This is info that was sent to me - I'm just passing it along: Science Sense Tours Visitors who are blind or partially sighted are invited to attend this program, held monthly in the Museum galleries. Specially trained Museum tour guides highlight specific themes and exhibition halls, engaging participants through extensive verbal descriptions and touchable objects. Science Sense is free with Museum admission. Saturday, February 11th, 10:00 AM Dinosaurs Join our guides on a paleontological adventure through the Koch Dinosaur Wing. Science Sense tours are available to individuals or groups. Space is limited and advance registration is required. Programs may be subject to change. For additional information or to register for a Science Sense tour, please call (212)313-7565 or email accessibility@amnh.org

These are photos of some recent craft projects. The red frame is already spoken for - but I'm asking $12 (including shipping in the US) for the two eggs together, and $12 (including shipping in the US) for the picture frame. If you'd like more info, just get in touch.

I have done artwork since before I could walk. My mom was an art teacher in her first career. She wanted Ryan and I to be creative, so she started early. She would buy rolls of newsprint paper and spread them out on the floor. Then she'd put us on the paper with big jumbo crayons. Ryan didn't take to art. I loved it. These days I don't get to paint as much as I'd like. I'm always behind on things that just seem more important than my own personal entertainment. But when I get to feeling too overwhelmed, somehow the painting helps. It's therapy. When I was in the drug trial for Hermansky-Pudlak Syndrome at NIH, waiting for test results always made me anxious. I always packed watercolors and painting helped to pass the time. It helped me think about something besides how life would change if the results weren't good. Today I saw this article through a newsfeed I get regarding bleeding disorders. I loved the article and thought it was great! It

I just got this e-mail from NOAH - the National Organization for Albinism and Hypopigmentation. I'm am thrilled to pass it along! NOAH's Michael J. McGowan Leadership Scholarship Award 2012 Application is now Available! -------------------------------------------------------------------------------- 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 NOAH member with albiism residing in the U.S. or Canada who is enrolled in an undergraduate program at an institution of higher education in the U.S. or Canada. The intent is to enhance educational opportunities for students with albinism while celebrating dedication and outstanding leadership qualities similar to those exhibited by NOAH's current and past leaders. The 2012 scholarship award will be $3,000

I’m thrilled to report that my pulmonary function tests yesterday were largely unchanged! Yippee! I’m particularly thrilled because honestly, I felt terrible. I’ve been having a lot of GI problems the last two weeks. Thursday and Friday my body had finally had enough. If I did that well feeling so yucky and weak, then I’m in good shape. When pulmonary function tests come back okay, it’s a great sense of relief. During the last year I’ve watched many of the people I was in the drug trial with decline. Nancy got her lung transplant, and Elsie needs one ASAP. Several others are being evaluated. I have to admit, it makes me nervous. We were all in the same boat not that long ago. While I wasn’t expecting any bad news, there’s a part of me that fears the moment I let my guard down, the moment I’m not expecting the bad news, will be the time I learn the pulmonary fibrosis has been creeping up on me.

Registration forms are now available for the 19th Annual HPS Network Family Conference in Uniondale, New York (March 16 – 18, 2012). The forms are currently being mailed to members who have up-to-date contact information in the Hermansky-Pudlak Syndrome patient registry. If you’d prefer to download the form, you can find it at: http://www.hpsnetwork.org/en/events/2012-03-16/19th-annual-hps-conference. You can also pay online at the HPS Network store at: http://www.hpsnetwork.org/en/store

The Crohn’s and Colitis Foundation has set up an online archive of Webinars about living with bowel problems. Many of the Webinars are available in English and Spanish. While CCFA does not provide any information about Hermansky-Pudlak Syndrome (it would really be nice if they would as for us, it can literally be life and death), you may find a lot of useful information here. Please consult with your own physician who understands your HPS before making any changes to your care. Here’s the link: http://www.ccfa.org/info/webcasts

This article came to my attention and I thought some of you would like to read it. This is a growing problem for people with vision impairments. While, as a person with albinism, I can see some of the touch screen technology well enough to use it, there are some I find very difficult to use as well. My blind friends (and sometimes myself) find that as this technology increases in usage, it can be limiting to our independence. Personally, when companies use this technology in this way, it's the same thing as setting up a brick and mortar building but making the doors so that a wheel chair can't get through - something that hasn't bee legal in this country since 1992. It's never desirable to have to make a court case out of such things, but I fear it will take a number of cases like this to get corporate America's attention. My biggest pet peeve are ATM machines. When I'm dealing with my money, I don't want to guess that I'm pushing the right buttons

This is a press release I'm passing along for anyone interested: Sprint to Offer Mobile Accessibility Application, Developed by Code Factory, for Free to Customers Who are Blind or Have Low Vision Mobile Accessibility application and new Accessibility Sprint ID packs make smartphone usage more accessible for Sprint customers Sprint to Offer Mobile Accessibility Application, Developed by Code Factory, for Free to Customers Who are Blind or Have Low Vision Mobile Accessibility application and new Accessibility Sprint ID packs make smartphone usage more accessible for Sprint customers OVERLAND PARK, Kan., Jan 09, 2012 (BUSINESS WIRE) -- Sprint /quotes/zigman/240259/quotes/nls/s S +2.17% is offering customers who are blind or visually impaired, as well as elderly individuals or those who cannot read print on smartphones because of physical, perceptual, developmental, cognitive or learning disabilities, free solutions that will provide them easier access to their Android

This past Monday I went to have an annual CT scan of my lungs. At my age, it’s routine for Hermansky-Pudlak Syndrome. I’m almost afraid to say it where anyone can hear, but I really haven’t felt much trouble in the lung department. I even managed to avoid the usual respiratory infections I get like clockwork in November/December. Maybe not being around as many people helps. I don’t yet have the results from the CT scan. I probably won’t for a few weeks. This time, however, they had me do something a bit different than other CT scans I’ve had before. They had me breathe in, then breathe out, and then hold my breath. In the past it’s been breath in, and hold it. Well, when there isn’t any air in your lungs, it really is hard to hold your breath for very long! It seemed like forever until the voice from the other room commanded “breathe.” I was turning blue! I’m not sure if this was how it was supposed to work, or if the tech was forgetting to tell me I could breathe again

Mom and I watched this movie over the Christmas holidays. It’s one of the best movies I’ve seen in some time. The story is about a writer, a young white woman, who sets out to tell the stories of the African-American maids that inhabit her world. It’s no small task. She must gain their trust, and guard their stories. While the film has very serious themes, it is also quite funny in places. It’s pretty family friendly. I don’t remember anything too much in the way of anything rude. If it’s there, it was so small it didn’t register in my memory. Small children would probably find it boring, but older kids would not only learn something from the story, but be entertained by the humor as well. It isn’t yet available for instant play on Netflix, but you can order the DVD. I give it five out of five spoons!

Most of my friends and family know it. I’m a Netflix addict. They really ought to give me a commission because even through the recent turmoil, I’ve been a huge fan. When I lost my job in 2008, it was a cheap way to still have at least some entertainment. (I had to cut expenses and so got rid of the cable TV.) After two months at my mom’s with 100’s of channels, honestly with the exception of a handful of international news channels from abroad – I’m not missing much at all. In fact, I’ve developed a real hatred of commercials, once I’m past the first day and the novelty has worn off. Grin! At any rate, I also love documentaries. Since I was a kid I’ve been fascinated by the story of Pompeii. It might seem a bit dark, but Pompeii provided such an amazing historical record – a flash in time. Living in Europe, we visited several Roman ruins, but none like this. This particular documentary “Pompeii: Back from the Dead” tells the stories of 54 inhabitants that all found refuge in a cel

The hotel room block is now open for the 19th Annual HPS Network Conference in New York. The hotel rate is $139.00 a night. The rate is available for Friday to Sunday night. Make your hotel reservations now to ensure you get the best rate possible. You may contact the hotel at: Long Island Marriott Hotel & Conference Center 101 James Doolittle Boulevard Uniondale, New York 11553 USA Phone: 1-516-794-3800 Fax: 1-516-794-5936 Sales: 1-516-794-3800 ext. 6800 Toll-Free: 1-800-832-6255

This is a news item from the Genetic Alliance policy bulletin. The NIH got a very modest funding increase, but this is good news in that so many other government agencies didn't get anything, or were cut. The increases will pretty much take care of inflation etc. But, half of the increase is going to fund NCATS, a program the HPS Network has joined with other groups to encourage. NCATS stands for National Center for Advancing Transitional Sciences. In other words, they're looking for ways to get research from it's early stages into clinical trials faster. It's unlikely HPS or CHS will be one of the first diseases they look at, but in the bigger, long-term picture, we'll benefit from some of the new ideas and methods that come out of this. NIH Funding Includes Creation of NCATS President Obama signed the 2012 omnibus spending bill into law on Friday, December 23, 2011. The $915 billion bill, which generated passionate debate in Congress, increased spending for

Ashley Appell was a guest soloist at the Winter Festival of the Performing Arts at Glen Cove High School on Long Island in December. Appell was asked to sing at the event after members of the Select Chorale participated in the 10th Annual HPS Network Christmas Concert fundraiser. The 50 member chorus provided back up for Ashley Appell and Mervin Hernandez (on the sax) at the event. The HPS Network was also able to sell the newest Christmas CD “A Very Merry Christmastime” at the High School’s Winter Festival. Sales of the CD that night raised more than $800 for the HPS Network. The school also held a 50/50 raffle in honor of the HPS Network at the concert. The winner donated his winnings back to the HPS Network, an extra special holiday gift to those affected by HPS.

Members of the Northwest Association for Biomedical Research (NWBAR) attended a special screening of the documentary RARE on Dec. 13, 2011 at Kakao Chocolates and Coffee in Seattle. A half-hour version of the hour-long documentary was shown, followed by audience discussion and a question and answer period. Heather Kirkwood, Vice President of the HPS Network, was on hand to speak about living with Hermansky-Pudlak Syndrome, experiences participating in a clinical trial and the film. Attendees included research scientists, medical personnel of all sorts and members of other patient advocacy groups. After watching the film, the audience was encouraged to discuss the ethical implications of patient advocacy groups helping to promote awareness and participation in research studies. The audience asked lots of questions about HPS, Coffee, wine, cheese and cookies were served. About 40 people attended the event. The HPS Network is working with the film’s producers to hopefully o