Living on the frontlines

Oyster Bay, NY - In March the Hermansky-Pudlak Syndrome Network (HPS Network) added the 1,000th person to its registry of patients with Hermansky-Pudlak Syndrome. The Network, founded by Donna Appell, started its registry in 1992 and since then has added, on average, a family and a half a week. Patients on the registry come from all over the world and represent all known types of HPS, as well as a few for whom an HPS gene has not yet been found. Registry participants are invited to list contact information as well as basic medical history. They are asked to self report any significant changes to their health status. Hermansky-Pudlak Syndrome is a rare form of albinism that causes decreased visual acuity and a bleeding disorder that can vary from mild to severe. Depending on the gene involved, the syndrome can also cause digestive problems resembling Crohn’s disease and/or pulmonary fibrosis. While HPS occurs all over the world, it is one of the most common genetic disorders a...

HPS friends hanging out at Champions, the hotel bar and grill. Nancy, Carmen, Waleska, Chris and Mike. It's Yeidyly! The session for adults with HPS. Our stars! Angels in Voice! These photos are from Waleska! Thanks Waleska!

These pics are from Blanca. I've asked a number of HPS'ers to share their photos as I was so busy at conference, I wasn't really in photography mode. Grin! I especially like the first pic!

The Long Island, New York-based band “J” is in the studio now working on a Christmas album, the proceeds of which will benefit the Hermansky-Pudlak Syndrome Network. It will be the second Christmas album produced by the group to benefit those affected by this rare genetic syndrome. The group made the announcement while performing at the 18th Annual Hermansky-Pudlak Syndrome Family Conference. For the past nine years “J” has held a Christmas concert to raise money for the HPS Network. During that time, the band has raised more than $125,000 to benefit the Network. This Christmas the second Christmas CD titled “A Very Merry Christmas” will commemorate a decade of fundraising by “J”. “J” is the brother and sister duo John DiGennaro and JoAnn Criblez. For this album (as well as many of their performances) “J” has recruited the help of the following musicians: JoAnn Criblez (lead vocals) John DiGennaro (lead vocals, guitar) Sonny Mirabelli (keyboards) Charlie Kul...

 Getting to know our friends from the HPS Association in Japan.  Here's Randy. Randy deserves a prize! He came from Puerto Rico for the conference and he did everything right. He got funding together, registered in advance, made his hotel and flight arrangements and double-checked on everything. He was just very on top of it! I was so glad to see Randy again, even though I can't speak with him easily because I don't speak Spanish.  I love this pic. It's Carmen hugging Letty. Friday afternoon is always filled with a lot of hugging as friends who haven't seen each other all year reunite.  More hugging! Everyone in this pic, except for Karen, was a first-timer. I love to watch first-timers at conference. Often it's a life changing experience. For many, it's the first time they've ever spent time with others that have albinism, let alone HPS. Many come away with a more positive outlook on their HPS and, I hope, better equipped to handle those bumps in th...

Here are a few pics from the HPS Network board meeting. As we often do at our in-person board meetings, we invite folks whose help we need in our work. Our board is unique among those that I've served on because we are fluid and informal. No one hangs much on ceremony or titles - everyone present is welcome to contribute. We intentionally look for people who are passionate about the cause, but humble. They are the kind of people who are interested in the work and who don't care about what they are called. They don't seek out leadership or title, they just rise to the occassion and it never even occurs to them to seek credit, even when it is much deserved and should be given. In some ways, the board is for outsiders who need to understand  some sort of structure. We try to limit it's size for financial reasons and have people who are representative of different parts of the HPS community, or whose professional experience is useful for strategic planning and managemen...

Our Chediak-Higashi pioneers! These were the three CHS'ers at the first CHS family event - Samantha, Ethan in the middle, and Riley. The group pic after the conference! You guys did it! This is just a precious pic! Love it! Riley and his big brother Brandon!  This year, for the first time, we had a separate conference programing on Sunday for families affected by Chediak-Higashi Syndrome, another rare type of albinism that is a kind of cousin disorder to Hermansky-Pudlak Syndrome. These photos are not mine. They belong to Selena, Riley's mom. I just wanted to show a few special pics (and will do so throught conference postings) to highlight the CHS gang. They all worked so hard to get to New York and it was such a special event to have three CHS families together. 

I just thought this was a really nice pic! It's Yeidyly from Puerto Rico, and Ashley.

 Getting ready to stuff the packets - all 250 of them! Mike tries to spice up a boring job by making it a race! This year I didn't take any photos of the mounds and mounds of stuff we haul to the hotel to run the conference. I've taken them before - old news. This year instead I took some photos of the team stuffing the registration packets. We were running behind on this and were stuffing right up until the moment we left the house. Mike and his brother James came from the UK to attend the conference. They got a kind of baptism by fire. They had to travel quite a way just to get their flight, so by the time they arrived at Donna's, they'd been traveling more than 40 hours. We hugged them, greeted them, sent them to bed for a nap, got them up a few hours later (got to adjust to the time change) fed them and put them to work stapling, photo copying and stuffing packets. I was very impressed with their willingness to just jump in without any complaint, even thou...

I'm likely going to have to post news from the conference in tid bits - it's too much to read in one big article. One of the news items from the conference is that a new gene for HPS has been identified - HPS type 9. Very little is known about it, as it was just found of course. This news hasn't even been published yet in the medical literature, but as I know it's well on its way, and it was shared in a public forum, I think it's okay to mention it here. For our science junkies - you'll have to wait for the published article for the full skinny - I'll let you know when I hear it's been published.

Boy do I have a lot to post - and it will take weeks to get through all the photos and video footage etc. - not to mention just the personal reflections. I stayed after a few days and played in NYC. When I arrived home, it's no exaggeration to say I slept for two solid days with only a few  bathroom breaks. I arrived days before the conference, so effectively, I've been on the road two weeks and it just wore me out! I loved every minute of it though! Below you'll find a video clip from Tommy Tillman, with many more to come I'm sure. I'll also start working through some of my photos. I think it was one of the best conferences yet.

Below is information about an upcoming Webinar being hosted by the Cleveland Clinic on pediatric Irritable Bowel Syndrome or IBD. This is a general seminar, thus the presenters have no specialization in Hermansky-Pudlak Syndrome, Still, I suspect parents, teens and young adults might learn something they can use. Just always be aware in situations like this to check what you learn with your own doc and someone who understands your bleeding disorder. That being said, if you choose to participate, please do us a favor. Ask questions, and when you do, please identify yourself as the parent of a child with Hermansky-Pudlak Syndrome or someone with Hermansky-Pudlak Syndrome. Say the whole thing. When we participate in events like this, it's a small opportunity to make the GI world aware that we are indeed out here! And hey, we need help too! Here's the info: Understanding and Managing Your Child’s IBD Thursday, March 24, 2011 - 12 Noon (Eastern Time) Kadakkal Radhakrishn...

This is another informational tidbit I'm passing along. The Pulmonary Fibrosis Foundation is hosting an event on Pulmonary Fibrosis that they are making available as a Webinar. It will cover diagnosis, treatments, and lung transplantation. This is NOT like the Webinar we just had with the NIH. They will likely NOT deal with the pulmonary fibrosis of HPS specifically, which can be a bit different. (For example, lung biopsy for diagnosis is generally not recommended.) However, you might learn some tips or tricks that would be useful. Once again, just as with the GI Webinar from the Cleveland Clinic - if you particpate, please help us generate awareness that patients with HPS ARE part of the pulmonary fibrosis community. Please identify yourself as someone with HPS when you ask a question. Here's the info: The Pulmonary Fibrosis Foundation will be providing a live webinar of Understanding Pulmonary Fibrosis: A Seminar for Patients, Caregivers, and Families, pre...

Here's another tid bit of info I'm passing along to any readers who might be interested. 2011 NFB Writing Contest The annual youth and adult writing contests sponsored by the Writers’ Division of the NFB, opened January 1st and will close April 1st. Adult contests, poetry, fiction and non-fiction, are open to all entrants eighteen years and over.   The youth contests are to promote Braille literacy and all poetry and fiction entries are required to be submitted in Braille. The age groups are divided into three categories: first through sixth grades, seventh and eighth grades, and ninth through twelfth grades.   Prizes for contest winners range up to $100 for adult categories and up to $25 for youth categories.   All contest winners will be announced at the Writers’ Division business meeting during the NFB national convention to be held in Orlando, Florida, the first week of July, 2011. In addition, shortly after convention, a list of winners will appea...

Last week the American Thoracic Society and the HPS Network held a Webinar on the pulmonary fibrosis of Hermansky-Pudlak Syndrome. Now, that Webinar is available online. It's a great resource to share with doctors. While the Webinar is about the lung disease, the first half actually may be of interest to anyone with any type of HPS. It talks about the different gene types, how rare they are and what sorts of complications are involved. Please help us pass the word about this great resource! Here's the link: . http://patients.thoracic.org/lung-disease-week/rare-disease-week/webinar.php

This is a painting I did from a photo my mom took last summer while driving through Canada. It's 16 by 20, acrylic on canvas board. In my mom's photos many of the lakes they visited had this sort of aqua color to them - more like what I'd expect near the ocean. Perhaps it has something to do with minerals in the soil? Whatever the reason, I thought it was beautiful. For this painting, I'm asking $80.

The following post is from my friend Lynea. I'm posting it to the blog, even though I know only a few readers are in Kansas City, because Facebook won't let me post the whole thing in a news feed. Good luck to anyone interested. And thanks Lynea! Hi Heather, I am thinking you might know some people who have a specialty knowledge in disabilities. I found this cool job posting: ompany: The Whole Person, Inc Location: Kansas City, MO Job Category: Social Services Job Type: Full-Time Location: 3420 Broadway Suite 105 Shift: Standard [ 8 - 5 ] Pay Range: $26,000.00 to $28,000.00 Experience Required: 1 To 2 Years Job Description & Additional Information A Bachelor′s Degree is required with an additional year experience providing services to people with disabilities‚ however‚ experience can be substituted on a year-for year basis. The position requires a broad knowledge and training in a comprehensive field of study providing skills in advo...

This is an item I'm just passing along as it may be of interest to some. Note that if you don't live in New York and can't attend, the presentation will be avaliable as a Webinar (not live) later. SAVE THE DATE Thursday, March 31, 2011 The Computer Center for Visually Impaired People (CCVIP) at Baruch College Invites You to a Technology Demonstration Entitled: All About Low Vision Services Times: 2:00-4:00pm or 7:00-9:00pm Where: Baruch College 151 East 25th Street, Room 655 What: In this session, we will be looking at all the components of a low vision evaluation. What is a low vision exam? What does a low vision doctor look for and how exactly does she work with people dealing with low vision? Dr. Linda Pang, of the Lighthouse low Vision Clinic will be walking us through the process and answering any questions that may come up along the way. Also covered in this session will be a brief overview of vision rehabilitation services. Besides low vision services...

I've posted about this scholarship before. I just got a reminder and am passing it along to anyone interested. >Do you need money for college? > >NATIONAL FEDERATION OF THE BLIND - The NFB Scholarship Program application >is available online. This national scholarship program is available >to persons who are legally blind and living in the United States and >Puerto Rico. There are 30 awards, from $12,000 to $3,000. In addition, each >winner will be assisted to attend the NFB Annual Convention for 2011 >in Orlando, Florida. The annual contest >began the first week of November 2010; all documents required from >the applicants must be postmarked by the March 31, 2011, deadline. > >Applications and full details are available online at: >http://www.nfb.org/scholarships

For those who are following the development of this technology, here's an update: Blind Driver Challenge™ to Appear on NBC’s Today Show! The National Federation of the Blind’s groundbreaking Blind Driver Challenge™ initiative will be featured on NBC’s Today on Sunday, March 6! Tune in to see Mark Riccobono talk about the recent historic developments of the Blind Driver Challenge™, including the public demonstration in which he drove a car equipped with a nonvisual interface, successfully and independently navigating the road course section of the famed Daytona International Speedway. On Sundays Today is typically aired live on NBC from 8:00 a.m. to 9:00 a.m. Eastern Standard Time, but please check your local listings. You will not want to miss the NFB Blind Driver Challenge™ on Today, the biggest morning news and talk show in America!

This press release pretty much says it all. Press Release For Immediate Release February 28, 2011 Contact: (202) 225-3965 Reps. Lance and Crowley Announce Rare Disease Caucus  Lawmakers Create Bipartisan Awareness and Education Effort On National Rare Disease Day Washington, D.C. — U.S. Reps. Leonard Lance (NJ-7) and Joe Crowley (NY-7) today announced the reestablishment of the Rare Disease Congressional Caucus for the 112th Congress. The lawmakers, who will serve as co-chairs of the Caucus, made their announcement at a Capitol Hill press conference with rare disease advocates on National Rare Disease Day 2011. The goals of the Rare Disease Caucus are to bring Congressional attention to the nearly 7,000 known rare diseases that currently have no approved therapies, ensure sufficient funding for research and orphan product development, explore ways to incentivize companies to create new drugs, biologics and humanitarian use devices, and provide an opport...