Living on the frontlines

This is really cool! It's a creative way to get the word out about pulmonary fibrosis. I love the idea! Many people with HPS get diagnosed with pulmonary fibrosis and don't know they have HPS. It's a real problem because often doctors want to do an open lung biopsy to diagnose pulmonary fibrosis. If you don't know you have a bleeding disorder (as people with HPS do) bad things can happen. Unfortunately, we don't always get listed under the causes of pulmonary fibrosis - either because people don't know about us, or they just think we're too rare to merit a mention. Given the life and death implications, that's a little frustrating. Still, as we increase knowledge about HPS among docs - and as patients begin to have words by which to do their own research, it will help. One thing I wanted to mention for HPS'ers, is that the press release mentions a very low number for qualifying for a lung transplant. Now that we've had six successful HPS lung tra...

This is a video for a grant - proof read please - it's a little rough as I've never done one of these before. Just make sure I didn't make a spelling booboo......after looking at it for hours I don't think I'd see anything anymore.

Below is a link to a very good article that appeared in the COPD Foundation's e-newsletter. It's about some upcoming changes to Medicare rules regarding durable medical supplies - things like oxygen, CPAPs, TPN feeding etc. To be perfectly honest, I'm not as up to speed on this issue as I should be, but I'll be doing some research. It looks like the changes will first be rolled out in a pilot plan. I see that many in the COPD community are hopping mad about this - and they may have good reason. I really just have to do some homework. It isn't an issue I've personally faced yet as I am not yet on oxygen - knock on wood. But, in the meantime, for HPS'ers who might be affected by these changes, better to know ahead of time and get prepared. So, thought I'd share the article.... http://www.copdfoundation.org/files/Full_Oxygen_CB_Guide_7.9.10.pdf

For some reason the site won't let me download the video, even though it's a press release. So, I'm trying this - either a video will appear, or a link you can at least follow to the video. Video doesn't seem to be working very well - try this link: http://www.digitalnewsrelease.com/?q=NFB_CarKit#

Just posting this press release as an update. I know some are following this story. National Federation of the Blind to Debut Car That Can Be Driven Independently by the Blind at Rolex 24 7/2/2010 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 to Debut Car That Can Be Driven Independently by the Blind at Rolex 24 NFB, Virginia Tech, and Grand-Am Form Historic Partnership to Advance Innovative Technology Daytona Beach, Florida (July 2, 2010): The National Federation of the Blind (NFB) and Virginia Polytechnic Institute and State University, College of Engineering (Virginia Tech) announced today that they have partnered to demonstrate the first street vehicle equipped with technology allowing a blind person to drive independently. The vehicle is scheduled to be demonstrated to the public as part of the pre-race activities a...

I posted a link to our local paper that covered this story a few days ago. Thought I'd post this as well. It's so upsetting to think these things still happen. I know that even many around me must feel the same way as the social worker, which is down right insulting. I've spent years working with kids. Yet, the only family who takes me up on my offers to babysit (I don't have kids and do enjoy babysitting from time to tome) are the parents of my Godkids. National Federation of the Blind Successful in Returning Infant to Her Parents 7/22/2010 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 Successful in Returning Infant to Her Parents Family Reunited After Wrongful Seizure of Child Independence, Missouri (July 22, 2010): The National Federation of the Blind (NFB) and its Missouri affiliate announced today t...

I am simply passing along the information below for anyone who might be interested. TCVC provides computers, free of charge (with a $100 donation) to visually impaired persons. (Note: This service is available to residents of the United States and Canada.) Our computer program provided 400 computers last year, for a grand total of 3,500 computers distributed to date. The 3,000th computer was awarded on March 25, 2009. Elizabeth Harper received the computer, specially equipped for blind users, from the Texas Center for the Visually Challenged (TCVC). The donated computers are refurbished by volunteers. This work has been done for many years by John Austin (shown left, below). More recently, volunteers from the North Texas PC Users Group (shown right, below) have joined in the refurbishing operation. Who is eligible? If you are a visually-impaired person in the United States who is serious about learning and is willing to listen to several audiocassettes to learn the basic steps for usin...

Now is the time to get your entries in! Send the HPS Network five names and addresses, or five e-mails and their real world names, and for every batch of five, you’ll be entered in this month’s drawing. Send them to: info@hpsnetwork.org. The names are for the capital campaign. This month’s prize is a $10 iTunes gift card.

Jess Lee was kind enough to teach us how to Zumba at conference. Those who attended her session (and a few who just felt the urge) did a little Zumba at dinner.

I am very excited. For the first time I’m going to Puerto Rico for the HPS Puerto Rico conference. I’ve always wanted to go, but felt it wasn’t a good use of our money to send me because I don’t speak Spanish. It seemed wiser to send others who could be of more help to the organizers there. This year we decided to send me after all. I got a good deal on the ticket and it will give me a chance to meet some of the Network in Puerto Rico, something that is really long overdue. It’s so hard to get to know any of them at our conference because I am so busy and distracted. I am also excited because it’s a chance to glimpse the place my great grandfather came from. Knowing that the HPS gene on my mom’s side came from Puerto Rico makes me feel somehow tied to this place I’ve never been and don’t even speak the language. Perhaps it’s the idea that long ago perhaps there was someone there, related to me, that was just like me. What must their life had been like? They likely never knew they had H...

This is just a little health update for my personal records – as well as for the entire world I guess – you know, part of the documentation. While I was at NIH Kevin upped my Advair, but told me to come down on the dose after about a month or so. This weekend I had some rather strange symptoms and I’m wondering if it was because of the steroids in the Advair? Who knows, maybe I’m just nuts. I went through about two days of feeling very edgy or anxious for no good reason. It was as if every little thing made me jump or somehow made me feel irritated. I tried to go to Homers Saturday night to listen to the live music, but the mere voices of the people around me had the same grating affect as someone running their fingers down a chalk board. Intellectually I knew there was no good reason for this, but it’s how I felt. I had to leave. I went home and could hardly stand to sit still. I couldn’t concentrate on anything. Finally I took one of the pills they gave me for the panic attacks I was...

Every year at the HPS Network conference in New York, the kids make a grand entry marching to a song that as to do with the theme. This year it was a Seseme Street song with the Count counting sheep - in line with the slumber party theme since the conference was about believing in your dreams.

Below is another press release from NORD. I'm happy to see it and hope that the HPS Network can join this effort. There's got to be a happy medium between safety and dire need. Rare diseases simply can't live up to some of the current expectations of the FDA. Some diseases get special considerations under FDA rules because of their life-threatening nature. The AIDS advocates really charted the way on that effort. But, rare diseases, even though many are deadly and have NO treatments, don't get this sort of consideration. The bar is very high, even if the risks seem very low and there are no other options. FOR IMMEDIATE RELEASE June 29, 2010 NORD Calls for Statement of Policy on Orphan Drug Development WASHINGTON DC-Noting that only about 200 of the nearly 7,000 diseases classified as rare currently have treatments, the National Organization for Rare Disorders (NORD) today called for a Food and Drug Administration (FDA) statement of policy on regulation of therapies for...

This week two new families joined the HPS Network's patient registry. This puts us at 93 to go for the Hundred People Search. We're a bit behind the curve this year, but hopefully the upcoming Puerto Rico conference and the Mystery Diagnosis episode will help.

The following is from NORD - National Organization for Rare Disorders - I thought many of you would be interested. NORD Reports Progress in Appropriations Bill NORD has been notified that the Senate appropriations bill to establish funding levels for key areas related to rare diseases and orphan products has now been drafted and submitted to the Appropriations Committee. We are delighted to report significant progress, especially on the following two points: The bill includes the first increase in funding for the Orphan Product Development Grant program since Fiscal Year 2005. A $2 million increase is proposed, which would bring funding for the program to $16,035,000. It also includes funding of $1 million to hire additional staff with expertise in rare diseases and orphan products for the new office established in FDA’s Center for Drug Evaluation and Research earlier this year. This office will focus on development of treatments for rare diseases, and it was established largely as a r...

This is a press release I thought readers would find interesting. I really want to stress a few points here for the HPS and CHS community. Note the release says there are more than 7,000 rare diseases and only 200 are really being researched by the government. Our disorders are included in that bunch. We can't take that for granted. We have to be active in supporting our researchers both in and out of government. When I first got involved with the HPS Network and became aware of NORD, or the Office of Rare Diseases or the Genetic Alliance the number of rare diseases (those affecting fewer than 200,000) was quoted at 6,000 - not 7,000. More and more disorders are being discovered every day as the science gets better. Unfortunately, that can also mean the competition for the attention of science is increasing as well. The thruth is as much as researchers might have their hearts invested in our cause, they can't run their labs on air. They will of course be drawn to the disorders ...

These photos are by Tommy Tillman - to refresh everyone's memory, the theme of last year's conference was "Believe in your Dreams" - thus, we had a slumber party theme for the banquet dinner. It was fun to see the PJs some folks came up with, but I think Janet and Anthony with their happy face PJs win the prize - grin!

Here are some photos Chris took while attending the Albinism Fellowship meeting in June. The Albinism Fellowship has been very helpful in Chris's efforts to build awareness of HPS and the HPS Network.

Contact: Donna Appell, President, HPS Network (516) 922-4022 or dappell@hpsnetwork.org Chris Fenlon, Tel: 01442-399822, Skype: chris.fenlon1, Email: bigrevschris@btinternet.com Date: July 21, 2010 FOR IMMEDIATE RELEASE Chris Fenlon appointed regional coordinator of the HPS Network in the UK Oyster Bay, New York - Chris Fenlon has been appointed regional coordinator of the HPS Network in the United Kingdom. In recent years a number of families from the United Kingdom have sought testing for, and been diagnosed with, Hermansky-Pudlak Syndrome or HPS. It is the hope of the HPS Network that we can better serve these families and individuals by having a coordinator based in the United Kingdom. HPS is a rare form of albinism that causes a bleeding disorder, and in some genetic mutations other health complications such as a Crohn’s-like bowel disease and pulmonary fibrosis. The HPS Network believes that HPS is under diagnosed around the world. Many who are diagnosed with a form of albinism ar...

This is the 2010 HPS Network Family Conference photo. Everyone in this photo has HPS, so you can see how widely our appearance varies.

It will soon be August, and what does August mean? It means that our elected officials will be venturing home to rev. up their campaigns for the next round of upcoming elections. It's a good time to lobby them for the things we need. One item those of us with lung diseases of all kinds are particularly interested in is the resolution supporting the Year of the Lung. I'm going to copy the resolution in it's full form below. It is currently in the House Oversight and Government Reform Sub Committee. We need to prod it along to bring more attention to issues surrounding lung health, preventative medicine, and the need for more funding for lung disease research. You can find out if any of your state's representatives are on this committee here: http://www.govtrack.us/congress/committee.xpd?id=HSGO. If so, please write, call and pester them. Here's the text of the resolution: (Note it even mentions pulmonary fibrosis and Hermansky-Pudlak Syndrome by name!) Text of H. Res...

A capital campaign is a vital fundraising activity for many non-profits. The HPS Network does our capital campaign every year around the holidays. It stands to reason that people who know those of us with Hermansky-Pudlak Syndrome would be the most willing to make a donation, no matter how modest, to help us in our journey for the cure. We need names though! Enter the Names for the Cure contest! Send in five names and addresses, or five e-mail addresses and their owner's real world names, and for every five you send in, you'll be entered to win the monthly prize - this month an iTunes gift card for $10. The cure depends on all of us coming together! Without funding, we can't move forward. Get involved today!

I couldn't resist taking this photo. My great aunt lives in Kirkwood, Mo. She's not from the Kirkwood side of my family by the way.......grin. She attends Kirkwood United Methodist Church. I just HAD to take a pic!

I'm just posting this as a service to anyone interested. You don't have to be in New York - they're doing it on the Web too. SAVE THE DATE Thursday, July 22, 2010 The Computer Center for Visually Impaired People (CCVIP) at Baruch College Invites You to a Technology Demonstration featuring The Best from Our First Year! Time: 2:00-4:00 pm and 7:00-9:00 pm Where: Baruch College Vertical Campus, 55 Lexington Ave. (Please use entrance on 25th Street , directly across the street from our offices) Room 2-140 What: It’s hard to believe, but it has been a year since we launched the CCVIP Technology Demo Center , and this presentation will close out that first year for us. So, we thought that showing off some of the best technology from our first year would be a good way to close the year. We will be looking at devices from many of our previous presentations, including book readers, cell phones, scanning technology and hopefully a surprise or two. Admission: Free Reservations: Call 6...

I don't know about you, but I'm hot. When I'm hot, it's as though my brain functions less, my body gets tired and all I want to do is lay around and stay as cool as possible. So, with that thought, I just wanted to share some soothing pics. These were taken by my mom on her trip to Canada last year. I've been working on them a bit with the intention of using them for my art file.

This is also from the ATS newsletter. I'm just passing along as a point of information for anyone who might need it. Administration Issues Rules Requiring Private Insurers to Cover Preventive Services Also this week, as part of implementation of the Affordable Care Act, the Department of Health and Human Services and the Treasury issued new regulations to require private health plans to cover evidence-based preventive services at no cost to beneficiaries. The new rules stipulate that new health plans beginning on or after September 23, 2010, must cover preventive services ranked "A" or "B" by the U.S. Preventive Services Task Force. Plans will be prohibited from charging co-pays, co-insurance or deductibles for eligible services. Covered preventive services will include most cancer screenings, blood pressure and cholesterol tests, flu and pneumonia vaccinations for adults and children, tobacco screenings and tobacco cessation interventions, including counseling...

This is an update about this year's work to lobby for the NIH budget. It comes from the American Thoracic Society's newsletter. House Panel Approves 3.2% Funding Increase for NIH Late yesterday, the Labor-Health and Human Services and Education Subcommittee of the House Appropriations Committee, chaired by Rep. Obey (D-WI), approved the 2011 health research and services spending bill known as the Labor-HHS-ED bill. The legislation passed by the subcommittee includes a $1 billion, or 3.2 percent funding increase over current funding for the NIH in 2011. However, this increase is based on the FY2010 appropriation only and does not include the additional $6 billion NIH received through the American Reinvestment and Recovery Act in 2010, so this funding level actually represents a decline in spending power for NIH. Chairman Obey's statement states that the bill "puts the emphasis on translating basic research results into practice and available cures and treatments." ...

Our first outing near St. Louis was to Josaphine's (sp?) in Godfred, IL. It was very much a "ladies" sort of place. There are two shops (which pretty much have the same things in them) and a tea room. The shops were a lot of fun, full of clothes, jewelry and other accessories. I had suspected the place would be full of "old ladies stuff" but it wasn't at all. I found a number of things I liked and would have gladly worn or taken home. Attached to one of the shops is the tea room. It definately had the vibe of a "ladies who lunch" sort of place. The food was very yummy - not little sandwiches with the crusts cut off but some awesome sandwiches, salads and soups. Mom and I split a curry chicken salad so we could have a peice of pie as the pies in the front case looked so yummy. We chose a slice of key lime pie to split for desert. I think it's one of the better ones I've ever had, and I'm a key lime fan. Kelly and Lisa decided to share ...