Living on the frontlines

This past week we enrolled two new HPS'ers on the HPS patient registry. This puts us at 48 to go on the Hundred People Search, but just four to go to hit 1,000 HPS'ers on the registry.

Here's a press release I just thought some would find interesting. FOR IMMEDIATE RELEASE CONTACT: John G. Paré Jr. Executive Director for Strategic Initiatives National Federation of the Blind (410) 659-9314, extension 2218 (410) 917-1965 (Cell) jpare@nfb.org Blind Man Drives Car Independently Avoids Dynamic Obstacles Baltimore, Maryland (January 29, 2011): The National Federation of the Blind (NFB), the oldest and largest organization of blind people in the nation, announced today that for the first time a blind individual has driven a street vehicle in public without the assistance of a sighted person. Mark Anthony Riccobono, a blind executive who directs technology, research, and education programs for the organization, was behind the wheel of a Ford Escape hybrid equipped with nonvisual technology and successfully navigated 1.5 miles of the road course section of the famed track at the Daytona International Speedway. The histori

We are looking for a few unique situations among HPS'ers. It may be something, it may not. Do you have HPS, know your gene type, know that you are not a 1 or a 4 - and yet have been treated for Crohn's Disease? I'm aware of one type 6. I thought there were some three's out there with Crohn's, but can't seem to locate them now. Also, do you have HPS types 1, 2 or 4 and have a close relative with idiopathic pulmonary fibrosis? (mother, father, aunt, uncle or grandparent?) If so, would you mind e-mailing me at hkdawn@yahoo.com ? Thanks!

Today we added a new person to the HPS patient registry. Since it is still Friday, they count for this week as well - that puts us at half way there - 50 to go! While this is down from last year, we are only six new people away from having 1,000 people with HPS on our patient registry from around the world!

Once again, I'm just passing this information along. It is cold outside, so it is time to start thinking about summer fun and Blind Industries and Services of Maryland Independence 2011! Last year Independence 2010 was a great success and this year it is going to be even better. Independence 2011 is a seven-week residential program where blind and low vision youth entering into the 10th, 11th, and 12th grades in the fall of 2011 will have the opportunity to learn the nonvisual skills of blindness from successful blind instructors. We will return to the campus of Towson University, where students will live in apartments with their blind adult instructors/mentors and learn how to manage their own apartment, cook, clean, grocery shop, manage money, wash clothes, to name just a few things. Not only will students of the seven-week residential program learn the skills of blindness through classes such as cane travel, Braille, computer/technology, and independent living (Home E

This week we added one new HPS person to the HPS patient registry. This puts us at 51 to go on the Hundred People Search. We are behind where we have been in previous years. I only wish that was likely because HPS'ers simply aren't out there. I think we know better.

Below is a message from NORD I'm passing along. Rare Disease Day Partner Ask Your Congressional Rep to Join New Rare Disease Caucus Thank you for signing up as a Rare Disease Day Partner or Ambassador! Here is one of the easiest, but most important, things you can do to support Rare Disease Day 2011: Write Your Reps Campaign Many of you know that NORD and its advocacy partners have worked with members of the U.S. Congress to establish a Rare and Neglected Diseases Congressional Caucus and that Congressman Joe Crowley (D-NY) has agreed to co-chair it. The launch of this Caucus was originally announced at the NORD Gala in May. However, because of the November elections and following lame duck session, promotion of the Caucus has been low-key to date. Now it's time to bump it up a notch. It's time for all of us to urge our Congressional Representatives to join the Caucus. As one of our primary Rare Disease Day 2011 activities, NORD is asking a

Today this was in my e-mail inbox. I thought I'd post it as a reminder to anyone interested. The ASHG 6th Annual DNA Day Essay Contest The submission site is now live. You can visit http://www.ashg.org/education/dnaday.shtml and click on ‘6th Annual DNA Day Essay Contest’ for the submission link, rules, and more information. Please be reminded that the deadline is March 7, 2011 at 5:00 PM EST. 2011 DNA Day Essay questions: Option 1: In 2010, a major discovery in genetics research found that the DNA of some modern humans contains small amounts of Neanderthal DNA. Briefly explain this finding and discuss its relevance to human ancestry and evolution. Option 2: A number of companies offer genetic testing directly to consumers, bypassing the involvement of physicians and genetic counselors. Discuss whether you think this is a good idea or not. You might focus on medical, ethical, legal, or social dimensions of this issue. Questions? Please email An

Did you misplace your conference registration form? Did it not come in the mail? (If it didn't, you should call into the Network and make sure your address is correct.) Never fear, the HPS registration form is now online. Check back to this site for more exciting details about the conference. We'll keep updating it with more information about the sessions and speakers as conference time grows closer. http://www.hpsnetwork.org/en/events/2011-03-20/18th-annual-hps-conference

Okay, so it isn’t Martin Luther King Day – I was busy yesterday. Still, I have a dream too. It’s really a modest dream. It isn’t about world peace or race relations – not that I don’t dream of those things as well. I have a dream that families affected by Chediak-Higashi Syndrome will be able to come together to meet, just like those of us with Hermansky-Pudlak Syndrome. I have a dream that they can spend time with one another in the flesh, that they can meet and spend quality time with medical experts on the syndrome, and that they can go away from the experience feeling a little less lonely and a little more empowered. One of my duties at the HPS Network is to serve as a kind of coordinator for families affected by CHS. CHS is kind of a cousin disorder to HPS. It involves albinism and a bleeding disorder, but also immune deficiency and neurological problems that tend to appear in the young adult years. The future for kids with CHS used to be pretty bleak. They often passe

I posted this on Facebook some time ago, but hadn't added it to the collection here. This is a watercolor I did as a gift for Ryan and Sara over the holidays. They love to take drives through the Virginia countryside and visit various wine makers. This scene isn't from Virginia - it's from Italy. Still, thinking someday they might have a wine theme in the kitchen or dining room, it just seemed to need their house as its home.

You never know who’s reading your blog. I guess that’s part of the fun of it. Grin! Today I had a long talk with someone in the know about HPS pulmonary fibrosis. She was reassuring that this nagging cough might not be the dreaded pulmonary fibrosis cough, but rather a restrictive airway asthma-type cough. This still isn’t good. It’s important to keep asthma under control to try to slow down the fibrosis – but it’s a lesser rung on the ladder, sort of speak. The reasoning she presented made sense. I was able to calm down a bit. Still, today was not one of my most productive days. Sunday I was a work horse. Yesterday I was a workhorse with a late start in the race. Today, I’m the 30-year-old nag in the back of the pasture just trying to stay upright. I’ve felt so tired all day. Oh well, tomorrow is another day.

Most people never know someone who has had, or needs, a lung transplant. If they do know someone, it’s some ONE – a single person with whom, if they are close, they make this journey. Currently I know 10 people in some stage of seeking a lung transplant. I love them, and watch them and I know that they are my future. I hope it’s a very long and distant future, but it’s there ready to creep up on me at any time. This week I was talking with one of the 10. She’s having trouble with her oxygen company. Even though her insurance doesn’t limit the number of tanks she’s allowed to have, the provider – for some reason – is limiting her. She’s budgeting her air. Too much activity – too many trips out of the house, and she’s afraid she’s not going to have enough to make it to the end of the month. She’s fighting the battle, and I know she’ll win, but I can’t get the idea of having to plan your breathing out of my head. Most of us with Hermansky-Pudlak Syndrome are legally blind. Many

I'm just passing along this information for anyone who might be interested. On Wednesday, January 19 at 8:00 PM, eastern, Joe Ruffalo, host of Thru Our Eyes will conduct interviews with Mary Ellen Gabias and Mary Jo Hartle. Coordinator of the NFB/eBay project, Mary Ellen Gabias will highlight those considering a career that includes selling on eBay or training others to do so. Director of education at the Jernigan Institute, Mary Jo Hartle, will feature the upcoming Youth SLAM 2011. In addition, Mary Jo will discuss additional programs and projects conducted and sponsored by the national organization. To watch and listen, please visit the following: www.thruoureyes.org or for our JAWS users and mobile phone users, please visit m.thruoureyes.org To call in with a question or comment, please dial 1 888 572 0141 UPCOMING INTERVIEWS Save the Date and Time: On Wednesday, February 16, at 8:00 PM, eastern, Joe Ruffalo will conduct interviews with Ca

This week we added three new people to the HPS patient registry. This puts us at 52 to go on the Hundred People Search (HPS) challenge. We don't want to leave anyone behind!

One of the commercials that always makes me laugh is for dog treats. The camera vantage point is from the point of view of the dog, looking over his snout. He smells his bacon flavored doggie treats and goes on a mad hunt for them through the house until he finds the happy human ready to hand out the treat. The dog’s voice says over and over….”Bacon, I smell Bacon….where is it…I want bacon, bacon….” I feel a lot like the dog in the commercial lately. The difference is I wake up in the morning saying, “Money, money, we need money….where is it…it must be somewhere…..money….” I’m a little obsessed actually. I think about it when I get up in the morning. I think about it as I try to fall asleep at night. Every day I see unmet needs in the HPS community and every day I think, if we only had the money! This has been one of the toughest years in the budget department. My other non-profit friends share our pain I know. Our donors have been hit hard by the economy an

Long time blog readers might remember that several years ago this blog was a different sort of place. It was much less community bulletin board and much more experiences and heart and soul. I suppose there are a number of reasons for this. My life as an HPS’er has changed a lot in recent years. Less and less of my HPS life involves strictly me. More and more of it involves my friendships with fellow HPS’ers, thus sometimes it might be hard for me express an experience or feeling without betraying a confidence. My role has changed too. Now that I no longer work full time, I’ve become more heavily involved in the administrative work of the HPS Network. When I wake up in the morning there are often many things to do on my list that seem more important than blogging. I’m also very mindful of who might stumble across this page on any given day. What if, for example, I have a bad or dark day, and that’s the same day that a newly diagnosed person stumbles across this page. We all hav

I'm passing this information along to any readers who might be interested. It sounds like a great opportunity. The National Federation of the Blind Announces the 2011 NFB Leadership and Advocacy in Washington, D.C., (LAW) Program Engaging the Voice of America’s Blind Youth April 8-12, 2011 Applications are due by February 1, 2011. This four-day experience will provide blind and low-vision students in grades six to nine, or ages twelve to sixteen, with a unique opportunity to explore the inner workings of our country’s government, its history, and its culture, while staying at the headquarters for the National Federation of the Blind in Baltimore, Maryland. In addition to learning about grassroots legislation efforts, 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 h

Our friend Shirley passed this info along. I thought I'd share in case anyone is interested. Announcing U.S. Department of Homeland Security (DHS) Scholarship Program Supporting students interested in pursuing the basic science and technology innovations that can be applied to the U.S. Department of Homeland Security mission. * Undergraduate students * U.S. citizenship required * Funding available for fall 2011 * Full tuition and monthly stipends * Includes 10-week summer internships at federal research facilities or DHS Centers of Excellence * Application Deadline: January 5, 2011 Complete information is available online at http://www.orau.gov/dhsed/ Questions regarding the DHS Scholarship Program can be sent via e-mail to mailto:dhsed%40orau.org. Please post program poster available at http://www.orau.gov/dhseducationprograms/ScholarshipFlier.pdf and distribute this email to students and colleagues.

We have been able to get a group travel rate on Airtran. If you use the following booking number, you'll get 10 percent off. You MUST use this event code to get the discount. If you use a travel site that won't let you use it, you can call the number below and you'll get the 10 percent off the lowest fare available at that time. You also need to fly into LaGuardia - airport code LGA. This is a way to help the Network as well. If we book 30 flights, we'll get a free ticket we can use in the future for attending a trade show or doing HPS outreach. Here's the info: Event Code: LGA031811 Event Name: HERMANSKY PUDLAK 18TH FAMILY CONFERENCE The EventSavers Desk is available M-F 8:00am-9:00pm EST excluding Holidays Toll Free: 1-866-683-8368 Email: grpdesk@airtran.com

This week we added two new HPS'ers to the patient registry. That puts us at 55 more to go to meet the Hundred People Search challenge. We're tracking behind this year compared to where we were previous years. I'd like to think that's because there aren't HPSers out there in need of a diagnosis. But, I know better.

This is an item I'm posting because I know many readers will be interested. This issue came a long way quickly, considering how many years it often takes to get something done on Capitol Hill. It's the result of a lot of hard work from a lot of people! 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 President Signs Pedestrian Safety Enhancement Act Washington, D.C. (January 5, 2011): The National Federation of the Blind today commended President Barrack Obama for signing into law the Pedestrian Safety Enhancement Act (S. 841), which will protect the blind and other pedestrians from injury as a result of silent vehicle technology. “The National Federation of the Blind is pleased that this critical legislation has been signed into law, preserving the right to safe and independent travel for the blind,” said Dr. Marc Maurer

This is information I'm passing along to any interested readers: Plans are moving ahead for the two training classes of the NFB/eBay Project. We've received a number of very fine applications, but we want to make sure to reach everyone who is considering a career that includes selling on eBay or training others to do so. Even if you're not ready to start an eBay business now, but think eBay might be a possibility for you in the future, we want to hear from you. We will be providing periodic updates to all applicants that include resources entrepreneurs will find useful. The deadline for applications for those wishing to be considered for the NFB/eBay training classes for entrepreneurs or trainers is January 15, 2011. If you have been considering applying but have not yet done so, or if you have questions, please contact me at (410) 878-2660 or entrepreneurs@nfb.org. If you would like to reread the article on the project that appeared in the Decembe