Living on the frontlines

This week we added two new people to the HPS patient registry. This puts us at 93 more to find in the coming years. Everyone keep up the great outreach work. We don't want to leave anyone behind!

 I very much like this pic of Carmen! It's the sort of picture that should be used for a writing contest - write the funniest caption! Grin! These are pics of some of the HPS gang hanging out in Champions on Friday night.

I used to post more frequent updates about my health. I was in the drug trial then, and the updates were partly a way to show the day-to-day life of someone with HPS, and partly a way for me to keep track of things for the NIH. Now that the drug study has ended, it isn’t that I have fewer problems – it’s that they’re the same old problems. How often can you really complain about the same old thing before no one wants to hear it anymore? That being said, since I haven’t posted an update in so long, I thought maybe I should. Last week wasn’t good – which I suppose is partly what made me think of it. I’m not sure if I was having an HPS, GI-related flare up, or just some sort of stomach bug, but it was a horrible GI week. For several days I had the runs so badly that I couldn’t leave the house for fear of getting too far away from a bathroom and having an ostomy explosion. Yuck! It started, unfortunately, with a particularly awful code brown in the line at the bank. Yet another

I’ve been on a forced vacation. My laptop, known as “Baby” caught a bad virus. My virus protection software didn’t pick it up. Living without my precious Baby for a week was a rude reminder of how dependent I am on my laptop. It’s my way of writing, reading books, listening to music, watching movies – not to mention the way I earn a little extra cash and stay in touch with almost everyone I know. A week without Baby was like being banished on a forced vacation to a desert island. The upside was that I managed to do some (but still not all) of the things in my personal life I need to do, yet have a hard time making a priority in the world that is HPSland. I cleaned out closets, cleaned out my medicine cabinet, cleaned out kitchen cabinets and starting whacking away at the jungle that is my back porch. I still have a lot of housework to do – maybe even more now that I’ve moved everything around and stirred up the dirt. Still, as bad as it was to be computerless for a week, this

 We took the museum tour - here we're learning about the planets.  I wish I had taken a photo of the thing we saw right after this. They had a video monitor recording all the earthquakes happening around the world live in real time. There was a little one even happening in Kansas!  Ashley is touching a dino-skeleton! How old is that? Wow!  It's a dino-nest. Awe, little dino babies! Here Donna is pointing out what we all missed. This little dino, the researchers believed, had GI problems from his bones. He has gall stones too! Even dinosaurs got upset tummies!

Here are some pics from the New York Natural History Museum. When I was a kid my mom gave up trying to take Ryan and I to zoos. We could never see the animals, even with a monocular. Just when you think you'd found an animal, it would move! So, she used to take us to the Natural History Museum in Denver. I still remember that. We could actually see the animals, and they didn't move and hide on you! Grin!

I'm passing this bit of information along from Fran - Thanks Fran! The Metropolitan Museum of Art Picture This! Family Program A Workshop for Families with Kids (ages 5 and up) who are Blind or Partially Sighted ::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::: Exploring Musical Instruments Discover the unique look, feel, and sound of music-makers in the Met’s collection, and then create your own masterpiece. ::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::::: Saturday, May 7, 2011 2:00 p.m. to 3:30 p.m. This event is free, but advance registration is required. Email access@metmuseum.org or call 212-650-2010. Access and Community Programs The Metropolitan Museum of Art 1000 Fifth Avenue (at 81st Street) New York, NY 10028 212.650.2010 www.metmuseum.org/events/visitorsdisabilities/ Access@metmuseum.org Joi

Thanks Letty and Fran - I stole your pics! Hope you don't mind!

Ashley Appell and Mervin Hernandez, two adults with HPS, performed at the recent Children’s Inn Gala Benefit hosted by AFCEA Bethesda chapter, an organization of those with an interest in government information technology issues. Ashley sang while Mervin played the sax. The duo received a standing ovation from the 900 guests at the event. Donna Appell, Ashley’s mom and President of the HPS Network, also was able to speak about the role the Inn has played in the lives of the Appell family for more than a decade. Ashley began staying at the Inn when she was six years old. Today she is 24 years old. Since it was founded, the Inn has hosted more than 10,000 kids and their families while they sought treatment and participated in research at the NIH. It provides a kid and family-friendly atmosphere that makes a trip to the NIH fun. The event raised more than $675,000 for the Inn.

Donna Appell, President of the Hermansky-Pudlak Syndrome Network, was a speaker at the Genetic Diseases of Children Conference, held March 8-9, 2011 at the Sheraton Hotel and Towers in New York City. Appell presented at three sessions. She spoke about some of the problems those with ultra-rare diseases face in the “medical home” model becoming more and more popular in medicine. She also moderated a panel sharing the day-to-day realities of raising a child with medical needs and finally, she took part in an Ask the Advocate panel. The event focused on five main areas of interest: • Reaching An Early Diagnosis • Sharing Family Experiences • Optimizing Care And Coordination Of Services • Children Living With A Genetic Disorder: Meeting Their Needs • Accelerating Research

Mervin forwarded this to me. I'll be checking it out. For Immediate Release Accessible Prescription Label Program Now Free For Blind Americans Normal, IL 3/15/11 – En-Vision America, Inc. has announced a new program to aid the blind and visually impaired in obtaining accessible prescriptions. Under their Pharmacy Freedom Program, eligible individuals may obtain a free ScripTalk Station patient reader that will allow them to access their prescription label information. Participating pharmacies attach a small RFID label to each prescription, containing all printed information. This provides a safe, private and independent way for the blind and visually impaired to manage their medication regimen, as well as helping pharmacies to comply with ADA regulations in serving their patients. Interested individuals may contact En-Vision America to get their free reader and provide pharmacy details. Pharmacies concerned with meeting the needs of their special needs patients may

 Candice and Crystal on the Long Island Rail Road - their first train trip. Of course I had to take a photo to document the occassion! Grin!  Part of the HPS gang on the NYC subway. I love these pics! It's Yeidyly, Ashley, Mervin, and Chris.  It's our friend Mike from the UK!  This is a funny low-vision moment. I noticed these people in the balcony taking pictures. Feeling a little noticable standing around with a big group of people withi albinism, I thought they were taking photos of us. Naturally, I found it a bit rude and decided to take photos of them back. I failed to notice the HUGE herd of elephants on display behind us. It was kind of dark in there! I guess I'm really not the center of the universe! Evil Grin! These are some photos from our post-conference play date in New York City. The first day it was pretty rainy, so we went to the Natural History Museum. I have never seen so many people in a museum! It's good to see so many people want to learn abou

I shamelessly stole these photos from Fran and Letty's facebook. I had a feeling they wouldn't mind. These are some photos from the New York HPS friendly get together this past Sunday. Go NYC! It looks like everyone had a good time.