Living on the frontlines

Above are some very special photos. Pictured are Maria G, Carmen, Chris and Rebecca. Maria G is in the last stages of fighting the pulmonary fibrosis of Hermansky-Pudlak Syndrome. The HPS'ers on the HPS Adults Yahoo! Group wanted to send their love and support, and a hug in a tangible way, so many of them made quilt squares that our HPS friend Letty sewed together. This is the group that was able to present Maria G with the quilt. I'd also note that Rebecca, in the blue, is one of our transplant success story superstars. She's now helping other HPS'ers in the transplant process and sharing her story with them. I know it has meant a lot.

This was in my e-mail today. We really do appreciate the support we get from NOAH. Understanding Hermansky-Pudlak Syndrome (HPS) NOAH's next parent teleconference, Understanding HPS: Symptoms and Screening, is set for Monday, December 6th at 9pm ET/8pm CT/7pm MT/6pm PT, and will be led by Donna Appell, RN, Founder and President, HPS Network. For more information or to register for this call, visit http://parents.albinism.org.

Recently some of the New Englanders (with Chris visiting from England) were able to visit our friend Maria M at her home with her family. They took her a blanket that Letty made for her as well as a spray bottle that's an inside HPS joke. When Maria met Chris at last year's conference, Maria commented on how good Chris smelled. I guess he had great after shave - he he he he....it sort of morphed into a joke. So, the can is Chris in a Can - and maybe you too can have some bottled Chris as a fundraiser. Ha ha ha ha ha ha ha. Maria M is regularly on our prayer list. She needs a lung and kidney transplant. Please say some extra prayers for her these next few days. She met with the kidney team this week and now they have to pow-wow with the lung team to hopefully finalize everything and get Maria on the list for both a lung and a kidney.  We're all pulling for her!!!!!! Go Maria!!!!!

This is our good friend Dr. Carmelo Rivera next to his poster about HPS at the American Society of Human Genetics. He found three people with HPS type 1 in Puerto Rico who do not have the HPS type I Puerto Rican mutation. This is interesting from the standpoint of testing for HPS in Puerto Rico, where we've assumed everyone would have either the same HPS 1 or HPS 3 mutations.

This is Diana from Columbia with her scientific poster about albinism, her own genetics, and albinism in Columbia.

While attending the American Society of Human Genetics meeting, we were able to go out to dinner with a few of our doctor friends. Dr. Adams is studying albinism (not HPS or CHS types) at NIH. Dr. Brilliant is a geneticist who has been a long-time friend of NOAH and the HPS Network. We also made a new friend, Diana, from Columbia. She is studying albinism there and she has albinism herself!

In the last two weeks we've added three new HPS'ers to the patient registry. That puts us at 56 to go on this year's Hundred People Search challenge!

This is a really cool program for blind and VI kids to learn alternative techniques and science. The registration has just opened for next summer's program. If you're interested, I'd hurry up and get your application submitted. Good luck! 2011 NFB Youth Slam: A STEM Leadership Academy It’s back! The third biennial NFB Youth Slam is slated to take place in the summer of 2011. Registration is now open! Click here to apply. Whether or not science or technology is “your thing,” there’s sure to be something for everyone. Learn the science behind building apps for your iPod, use cutting edge equipment and technology to determine chemical reactions in chemistry labs, build robots, or learn how to use nonvisual techniques to perform a real dissection! We guarantee this summer program will be like no other you’ve ever been to before! One hundred and fifty blind and low vision students from all across the country will be selected to attend this five-day adventu

Thanksgiving is just around the corner - a time when families get together and often talk about family history. Those of us with genetic issues of any kind - albinism, Hermansky-Pudlak Syndrome or Chediak-Higashi Syndrome, can use these conversations as a vehicle to gently remind our families that our genetics don't just affect us. It can affect them, as well as their future generations of children, as well. It could be very helpful in terms of quick diagnosis and future treatments we haven't even thought of yet for future generations to be aware of our issues should they appear down the way in our family trees again. Here's a resource you can use: https://familyhistory.hhs.gov/fhh-web/home.action

The EEOC has published the regulations employers need to implement GINA - the Genetic Information Non-Discrimination Act. This is a new law that prohibits descrimination based on your genetic likilhood to develop certian medical problems. HPS'ers often get confused by this act. It does not address issues of descrimination based on current medical problems or disabilities - it only protects you from descrimination based on the likihood you'll have problems in the future based on your genetics. Here's a link to the new EEOC rules for employers. It's not a bad idea to get to know them yourself so you're well informed about your rights. http://www.eeoc.gov/laws/regulations/gina_qanda_smallbus.cfm

This is another useful item that was in the National Organization for Rare Disorders - NORD - newsletter. Many HPS'ers, although not elderly, are on Medicare and should be entitled to this benefit when it's implemented after the first of the year. Proposed Changes in Medicare Rules Recognize Benefit of Family History One of the many health-care changes enacted in March as part of the Patient Protection and Affordable Care Act is that Medicare beneficiaries will be eligible for an annual wellness visit that includes an assessment of their health risks and creation of a personalized prevention plan. This new benefit begins January 1, 2011. The Centers for Medicare and Medicaid Services (CMS) will define the elements of the wellness visit and how much Medicare will pay for it. CMS has proposed including certain elements in the beneficiary's first visit including establishing a medical history and family history.

This information was in the recent e-newsletter from NORD - the National Organization for Rare Disorders. They are joining with others to create a Congressional caucus to promte the issues of those of us affected by rare or neglected diseases. Here's the info for readers who want to know more. Rare and Neglected Diseases Congressional Caucus Ask Your Representative to Join Congressional Caucus With its advocacy partners, NORD has helped establish a Rare and Neglected Diseases Congressional Caucus. When the 112th Congress convenes on January 3, we will begin actively promoting membership in the Caucus. Please help us launch this potentially very important forum by asking your member of the House of Representatives to join the Caucus if he or she has not already done so. View list of members. Tammy Baldwin (WI-2) Joseph Crowley (Co-chair) (NY-7) Rush Holt (NJ-12) Timothy Johnson (IL-15) Peter King (NY-3)

Mark your calendars now for the last day in Feb! It's Rare Disease Day! Stay tuned for ways you can help generate more awareness of what it's like to live with a rare disease. For now, check out the newly launched US Rare Disease Day Website: http://rarediseaseday.us/take-action-now/get-involved/

I know I haven't posted in days. This is just a quick post to say I'm okay and an explanation will be forthcoming when I'm free to talk about what I've been  up to - right now I'm protecting some privacy issues. Everything with me is okay though so no one need worry.

Now that Halloween is past, it's time to start thinking about Christmas. Consider buying the CD "Another Christmas" by the musical group "J". 100 percent of the proceeds from the sale of this CD go to benefit the HPS Network. You can hear a sample of the music or purchase the CD online at: http://www.hpsnetwork.org/en/store/another-christmas

I knew I was forgetting a few things. Please pray for Candice and Crystal who are getting their wisdom teeth out today. I know they are on top of bleeding precautions, so I know it will all be okay - but still, it's scary. Please also pray for the HPS Manhattan Dinner fundraiser.

No one has e-mailed me with specific requests, so please forgive me if I've left off any concerns. I'm still digging out on the e-mail front. Please pray for the HPS board of directors this weekend, and some of the guests we are having at the meeting. Pray that we will be wise and brilliant and that we will all travel safely. Please pray for Hilda Cardona, who is on the HPS board. She just had back surgery. Pray that she heals well, and that she doesn't overdo it! She's not one to sit still for long. Please pray for Nancy and Dave as Dave continues to heal from his surgery. Please pray for Cesily, that all goes well with the new trial and that she and her husband have peace as they continue through this journey. Please pray for Maria M, who as far as I know (I haven't had an update in a bit) is still in a bit of limbo with the transplant centers. Pray these issues are resolved quickly Please pray for Maria G and Laura and the rest of their family that they hav

This is information I'm simply passing along as I think many of you might find it interesting. If you can't make it, or don't live in New York, they are live streaming this session in the afternoon. SAVE THE DATE Thursday, November 18, 2010 The Computer Center for Visually Impaired People (CCVIP) at Baruch College Invites You to a Technology Demonstration featuring Accessible PDAs and Note Taking Devices Time: 2:00-4:00pm and 7:00-9:00pm Where: Baruch College 151 East 25th Street, Room 655 What: Join us as we take a look at accessible portable digital assistants (PDAs), or as we have come to know them—notetakers. We will be looking at devices such as the Braille Note Apex, Pacmate Omni, iPad and a netbook loaded with JAWS. We will look at how these devices can be used in academic and professional settings to take notes as well as perform various other functions. Admission: Free Reservations: Call 646-312-1420 If you are unable to join us in

The HPS Network and NOAH partnered on the American Society of Human Genetics meeting to get the word out about NOAH and the HPS Network. Because most geneticists know about albinism, we used the brand new HPS Network booth. We handed out NOAH literature and the flyer about raising a child with albinism. Of course, we also handed out HPS brochures and instructions on how to diagnose HPS. It was a great show! I'm extremely happy about our new booth. The old one weighed almost 100 pounds and was a major pain to travel with. This one is made of cloth, folds up into a bag smaller than my purse, and it weighs less than my purse! Of course, I carry rocks in my purse - or so the rumor goes. Thanks to Mervin for organizing the order for the new booth!

I posted a story about this a while back, but I hadn't had a chance to pull the photos off my camera. These are from the joint NOAH/HPS Network booth at the American Academy of Pediatrics. We used the HPS cookie demonstration to pull in the docs, but the NOAH booth. We handed out flyers about NOAH, the book about raising a child with albinism and HPS brochures.

Because I've been traveling, I'm a bit late getting this up. Last week we added two new HPS'ers to the registry. We have 59 more to go for the Hundred People Search. Way to go HPSland! Keep up the great outreach work.