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Since its debut, the episode of Mystery Diagnosis featuring Hermansky-Pudlak Syndrome has aired a number of times. Each time we’ve had inquiries from people who identified with the story and would like to be tested for HPS. It’s been an interesting group.
With the exception of one person we’re pretty confident does not have HPS, everyone who has called in has albinism and GI issues. Several report all kinds of bleeding issues. The vast majority indeed do not appear to be of Puerto Rican heritage.
It’s amazing when you consider that HPS is supposed to be so rare – indeed so rare that some would argue no attention really needs to be paid to it. (Not me of course)
What are the odds that these people not only have symptoms of HPS, but happened to catch the episode of Mystery Diagnosis? How many more are out there that simply have never heard of the syndrome?
The next step is testing.
We can answer questions and help people seek testing, but that’s all we can do. It’s up to them to follow through, and truthfully often people don’t follow through. I only pray that these folks do indeed seek the testing. It could make a world of difference.
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Rep. Joseph Crowley (D-NY) and Fred Upton (R-MI) have formed the Rare and Neglected Disease Caucus. A Congressional caucus is formed by members of Congress to provide a forum for specific issues or legislation of interest to a specific group. A number of caucus groups exist in the Congress. Their main function is to help draw attention to issues of importance to their membership.
The Rare and Neglected Disease Caucus intends to begin by focusing on the following issues:
Bringing greater Congressional attention to the more than 6,000 rare and orphan diseases that currently have no FDA approved treatments;
Ensuring sufficient funding for rare disease research and medical device development;
Ensuring ways to incentivize companies to develop products for rare diseases;
Providing a forum for Congressional representatives and various stakeholders in the rare disease community to come together to discuss issues of common concern.
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My trip to Puerto Rico was AWESOME! The only flaw was that it was too short. The HPS Network Puerto Rico did a fantastic job organizing outreach and the conference. It was a wonderful day and I was so grateful for the opportunity to meet so many wonderful people.
I think Donna and Ashley must have been laughing at me as our plane descended from the clouds. Perhaps I just happened to be in Puerto Rico during a time with a lot of thunderstorms, but the entire trip there were the most amazing clouds in the sky. They were amazing even as the plane dropped down out of the sky. Below I could see a rainbow between the puffy clouds that looked like suspended cotton balls. It seemed like a great way to start any trip.
Although I lived near the ocean when we lived in Germany, the ocean around Puerto Rico is nothing like the North Sea. From the plane I could look out and see the white caps on the waves and water that was such a deep blue – not a chilly gray like the North Sea.
As the island came into view, I felt sort of giddy. For me, this trip wasn’t just about Hermansky-Pudlak Syndrome – it was about establishing some sort of connection with family history. Even though I didn’t get to meet any relatives, we did pass through towns where I know some of my relatives lived. There’s something even in just looking at the hills that you know your ancestors looked at every morning – or feeling the nature of the place they once lived.
I was worried about how I’d handle the heat, but actually Puerto Rico turned out to be cooler than Kansas. Even though it was hot and humid there was usually a breeze that made it tolerable, and unlike Kansas, the breeze didn’t feel like a blast furnace.
Unfortunately, Puerto Rico is having trouble with the Dengue Virus – a virus that is transmitted by mystiques and a real problem in tropical areas. Dengue can cause high fever, severe headache, severe pain behind the eyes, joint pain, muscle and bone pain, rash, and mild bleeding (e.g., nose or gums bleed, easy bruising). Those of us with an existing bleeding disorder just don’t need any help in the bleeding department. As a result, we practically bathed in bug spray. Between the bug spray and the sun screen, I felt like I had this goop on me all the time. Donna, however, our ever vigilant nurse and mother figure, wouldn’t let us skimp on the bug spray. She carried bug spray wipes with us and if she didn’t think we were doing a good enough job, she jumped in to help. I have some funny pics of her taking over for Mervin – evil grin!
This was not a sightseeing trip at all. Usually when I take photos I like to take a care about them. I like to frame them a certain way etc. This trip I just pointed the lens out the car window, set the camera on high speed, and clicked away. If I got a good shot, it was probably more from luck than talent or having a good eye. Someday I want to go back when I can take my time.
This trip, however, was for HPS outreach. We traveled around the island with several local HPS’ers, Richie and Ivette (President and VP of HPS Network Puerto Rico) and Yeidyly, organizer extraordinaire! Hilda had been in Puerto Rico for some time ahead of us and laid much of the ground work. She also did a lot of the driving.
I hope none of my Puerto Rican friends are offended by this, but people drive like nuts down there! It’s as if the traffic laws are mere suggestions only to be taken seriously if you happen to be in the mood. We were all quite happy to have Hilda, Richie or Ivette driving.
We did a radio interview, made an appearance on a TV show, spoke at a hospital several times, and visited a new member who happened to be in the hospital with GI problems.
Then the big day arrived – the day of the conference. Yeidyly did a lot of the logistical preparations for the event. I know our attendance was down a bit – but sometimes pure numbers aren’t what are important. I’d rather have half as many people there who are engaged and getting something out of the day than twice as many who are mere present bodies.
I couldn’t understand the presentations, although I know many of the speakers so I’m sure they were all quite good. Instead, I spent much of the day watching the kids. That was fun! Kids are the same in any language, and you don’t have to be fluent in Spanish to play with a little one. All they care about is the play – all the chit chat doesn’t really matter to them.
We wrapped up the week by going to a wonderful restaurant on the seashore. I stood on the beach (even though I knew Donna was probably having a fit and gripping the bug spray) with Hilda and Richie and watched a beautiful sunset. Sometimes you just have to live dangerously. I think I took about 50 pics of the sunset alone. I’ll curse everyone with those at a later date – you know how I am.
Congrads to the entire Puerto Rico team for doing such a wonderful job!!!!!!
And as for Puerto Rico – someday, I’ll be back.
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Cesily Ramos, author of the just-released book Embracing the Mystery, is donating $5.00 from the sale of each book to the Hermansky-Pudlak Syndrome Network. Embracing the Mystery is a collection of Ramos’s personal reflections and poetry inspired by her search for a diagnosis and experiences living with a chronic health condition. Ramos has Hermansky-Pudlak Syndrome.
The book is available for purchase from http://www.blurb.com/bookstore/detail/1526943.
Ramos has lined up further donations for the sale of each book from the following organizations:
Union 28-PA
Bagel Express-PA
Sky's the limit-Florida
Mission Of Hope-Africa
Hispanidad Tax Service-PR
Free shipping is available for purchases made before Aug. 31st. Enter (in caps) the following codes at checkout.
Coupon Code:
USD $ coupon code: SHIPPINGFREE
GPB £ coupon code: SHIPPINGFREE1
EUR € coupon code: SHIPPINGFREE2
AUD $ coupon code: SHIPPINGFREE3
CAD $ coupon code: SHIPPINGFREE4
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The following message appeared on one of the listservs I belong to: As so many of my readers are either HPS'ers or other folks with low vision/blindness, I thought some of you might be interested. It looks like a great opportunity to me.
Colleagues,
Be a part of the team. We are pleased to share the following Regional Disability Integration Specialist opportunities at FEMA. These positions will lead, support and facilitate FEMA’s commitment to inclusive emergency preparedness, response, recovery and mitigation:
Positions are open in all ten FEMA regions:
Philadelphia, PA
http://jobview.usajobs.gov/GetJob.aspx?JobID=90118572&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability&sort=rv%2c-dtex&cn=&rad_units=miles&brd=3876&pp=50&jbf574=HSCB&vw=b&paygrademin=12&paygrademax=12&re=134&FedEmp=N&FedPub=Y&caller=advanced.aspx&AVSDM=2010-08-17+13%3a59%3a00
Atlanta, GA
http://jobview.usajobs.gov/GetJob.aspx?JobID=90119277&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability&sort=rv%2c-dtex&cn=&rad_units=miles&brd=3876&pp=50&jbf574=HSCB&vw=b&re=134&FedEmp=N&FedPub=Y&caller=advanced.aspx&AVSDM=2010-08-17+14%3a20%3a00
Chicago, IL
http://jobview.usajobs.gov/GetJob.aspx?JobID=90119618&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability&sort=rv%2c-dtex&cn=&rad_units=miles&brd=3876&pp=50&jbf574=HSCB&vw=b&paygrademin=12&paygrademax=12&re=134&FedEmp=N&FedPub=Y&caller=advanced.aspx&AVSDM=2010-08-17+14%3a41%3a00
Denver, CO
http://jobview.usajobs.gov/GetJob.aspx?JobID=90148256&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability&sort=rv%2c-dtex&cn=&rad_units=miles&brd=3876&pp=50&jbf574=HSCB&vw=b&paygrademin=12&paygrademax=12&re=134&FedEmp=N&FedPub=Y&caller=advanced.aspx&AVSDM=2010-08-18+13%3a20%3a00
Oakland, CA
http://jobview.usajobs.gov/GetJob.aspx?JobID=90147438&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability&sort=rv%2c-dtex&cn=&rad_units=miles&brd=3876&pp=50&jbf574=HSCB&vw=b&paygrademin=12&paygrademax=12&re=134&FedEmp=N&FedPub=Y&caller=advanced.aspx&AVSDM=2010-08-18+12%3a35%3a00
Boston, MA
http://jobview.usajobs.gov/GetJob.aspx?JobID=90149944&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability+integration&where=&brd=3876&vw=b&FedEmp=N&FedPub=Y&x=0&y=0&AVSDM=2010-08-18+15%3a02%3a00
New York City, NY
http://jobview.usajobs.gov/GetJob.aspx?JobID=90150359&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability+integration&where=&brd=3876&vw=b&FedEmp=N&FedPub=Y&x=0&y=0&AVSDM=2010-08-18+14%3a59%3a00
Denton, TX
http://jobview.usajobs.gov/GetJob.aspx?JobID=90150791&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability+integration&where=&brd=3876&vw=b&FedEmp=N&FedPub=Y&x=0&y=0&AVSDM=2010-08-18+15%3a34%3a00
Kansas City, MO
http://jobview.usajobs.gov/GetJob.aspx?JobID=90151026&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability+integration&where=&brd=3876&vw=b&FedEmp=N&FedPub=Y&x=0&y=0&AVSDM=2010-08-18+15%3a42%3a00
Bothell, WA
http://jobview.usajobs.gov/GetJob.aspx?JobID=90149466&JobTitle=Regional+Disability+Integration+Specialist+GS-0301-12&q=disability+integration&where=&brd=3876&vw=b&FedEmp=N&FedPub=Y&x=0&y=0&AVSDM=2010-08-18+15%3a03%3a00
Please forward these announcements to your networks and be sure to also view the other great FEMA employment opportunities on www.usajobs.gov.
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If you missed the show, it will air again on Saturday, Aug. 21st at 5:00 pm.
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Last night was a big night in HPSland. Our own Karen Tillman's diagnosis story was featured on the popular Discovery Health show, "Mystery Diagnosis." It was emotional to watch because I know Karen very well and because we share these HPS experiences. The entire HPS community is all a flutter with excitement and expectation about what this show might mean for us.
That might seem strange to an outsider. But for us, the exposure could mean so much. It could mean that someone out there affected by HPS gets a diagnosis. While we'd never wish for anyone to have HPS, having it and not knowing can have terrible consequences, as you saw in the show. Had the doctors known and understood HPS, they might have treated my case differently, and perhaps Karen's too - who knows. For us, it's neither here nor there - but for people who are sick now, it could make all the difference in the world. We're also hopeful that maybe the show planted a seed in some doctor's brain out there. Maybe years from now he'll see a patient with HPS and remember something, just enough to know to go look something up.
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This item was on a listserv I belong to and I just thought I'd pass it along for anyone interested.
The National Federation of the Blind (NFB) Jernigan Institute will host an accessible election technology seminar for developers of election technology on September 13, 2010. This seminar is one of the activities conducted by the Jernigan Institute under its Help America Vote Act Training/Technical Assistance grant from the United States Department of Health and Human Services.
One of the purposes of the seminar is to inform election technology developers about the experiences of blind and low vision voters with accessible voting technology. We need your help to provide election technology developers with as broad a range of voter experience as possible. If you are blind or have low vision and have used an accessible voting system in a federal election, please send an e-mail describing your experience, the city or county and state where you voted, and the type of accessible voting system used (if known) to Lou Ann Blake, NFB Jernigan Institute, at lblake@nfb.org. Thank you for your help!
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