Living on the frontlines

A dozen New Yorkers with HPS gathered for a picnic on June 24th at Riverside Park on 103rd Street. They spent the afternoon sharing food and fun while getting to know one another better. The group hopes to hold additional events throughout the year. The next picnic is Sunday, Sept. 2 from 11:00 am to 3:00 pm at Riverside Park at 103rd Street. 

KLRN in San Antonio will air RARE on Thursday, Aug. 23 at 9 pm. 

RARE is to air in Denver on Aug 14 on station KBDI 12.2 at 8:00 pm 

PBS station New Hampshire PTV will air RARE on it's EXPLORER channel Thursday Aug. 30 at 8:00 pm. 

New Hampshire PTV will air RARE on Sept. 1 at midnight. There are some other dates on this station too that I will post shortly. 

Public Television Station KCET will air RARE Wednesday, Aug. 22 at 2:30 PM. This is in addition to the other dates in the LA area already announced. 

Last night I wasn’t feeling all that great. I decided to give up trying to be productive and succumb to the wishes of my body. I was going to get some rest. When I’m trying to relax, it isn’t uncommon for me to put something on Netflix and either watch it, or sometimes just listen to it.  One of my favorites, besides historical dramas, is Star Trek. I’ve seen every episode of every series at least once, some more than that. Still, when I want to kick back, I’m still drawn to rewatching them. I’m not really a science fiction junkie, but there’s just something different about Star Trek.  Perhaps it’s the striving for a sort of utopia life. It’s a life where everyone is valued and everyone contributes according to their talents. It isn’t devoid of finances or privilege, but they are in a reasonable balance. Technology has overcome a lot, but not everything. Still, the goal is to respect differences and live in harmony. Sounds pretty idealistic, but the plots are what do it for me. Th

On July 9th, President Obama signed into law the FDA Safety and Innovation Act, legislation with many provisions to support research and treatments for rare disorders.  Among the new law’s provisions of interest to the rare disease community:  • Provisions to encourage accelerated patient access to new medical treatments • The development of Humanitarian Use Devices (medical devices for small patient populations) • Accelerated development of “breakthrough therapies” that show early promise  • Enhanced FDA consultation with rare disease experts • A rare pediatric disease priority review voucher incentive program to encourage development of treatments for rare pediatric disorders  • Resolution of conflict of interest issues that have kept some rare disease experts out of the decision making process • Research into how to make drug labels more accessible to the blind and visually impaired 

The HPS Network Puerto Rico will hold it’s seventh annual conference Sept. 1st at Cemtro de Convenciones de la Cooperativa de Aguada from 8:00 am to 3:00 pm. The conference is a chance for those affected by Hermansky-Pudlak Syndrome from all over Puerto Rico to gather, meet one another, share experiences and learn more about the syndrome from medical experts. While the adults attend sessions, the kids will enjoy fun activities as well as meeting others who share their experiences.  For the first time, there will be a session about how to plan for a lung transplant. In recent years, eight people with HPS have been able to obtain a lung transplant. The process, however, isn’t easy. Learn what you need to know about how the transplant process works and what you can do to make yourself an ideal candidate should the need arise.   

WQED, the Public Broadcasting System station in Pittsburgh, is going to air "RARE" on Oct. 28th at 9:00 pm. Please help us get the word out about these RARE broadcast dates. 

We've added another person to the HPS patient registry. This puts us at 87 to go on this year's Hundred People Search (HPS). Way to outreach gang! 

The documentary RARE, about the HPS type of albinism/pulmonary fibrosis, is going to air in the LA market on station KLCS.  It is scheduled for Sunday, August 19th at 9pm on their main channel! They've also scheduled rebroadcasts for Wed, August 22nd at 4am and Monday, August 27th at 7pm (both on the main channel).

The documentary RARE will air in Sacramento, CA on Wed. Aug. 22nd at 11:00 pm and on Monday, Aug. 27th at 3:00 pm on public television station KVIE.  

Representatives of the Hermansky-Pudlak Syndrome (HPS) Network attended the conference of the National Association for Albinism and Hypopigmentation (NOAH), July 12 – 15 in St. Louis. For the first time, information about HPS was shared in the plenary session at the conference. Donna Appell, president and founder of the HPS Network, gave the presentation and answered questions throughout the weekend.  “It was so great to have everyone in attendance hear about HPS,” says Nancy Lee, a board member of the HPS Network and long-time NOAH member. In addition, a breakout session was held about HPS and the film “RARE” was screened for those in attendance.  Nancy Lee, a board member of the HPS Network, spoke on a panel titled “The Many Faces of Albinism.” The panel highlighted the diversity of the albinism community.  NOAH awarded the HPS Network the Founder’s Award for the Network’s service to the albinism community.  The HPS Network, and it’s attending members, also manned two ta

Heather Alvey, the mother of two with Chediak-Higashi Syndrome, held another fundraiser for the second annual Chediak-Higashi Syndrome Association Conference, to be held March 8 – 10, 2013 in Uniondale, NY.  Alvery, and family and friends, sold various craft items at a table during “Friday After 5” a summer weekly event in Owensboro, KY. It’s something they’ve done several times during the summer to raise the money to attend the conference.  The Second Annual Chediak-Higashi Syndrome Conference will once again be held in conjunction with the Hermansky-Pudlak Syndrome New York conference. 

The documentary RARE will air in Salt Lake City on Aug. 17th at 8:00 pm (MT) on PBS station KUEN. 

The documentary RARE, following the HPS Network through a phase III drug trial to treat the pulmonary fibrosis of HPS, will air in Cleveland on Aug. 12 at 3:00 pm on PBS station WVIZ. 

We've added four new HPS'ers to the HPS patient registry! This puts us at 88 more to go on the Hundred People Search! 

It's time to get ready for the HPS Conference Puerto Rico! Join us September 1, 2012 at the Cemtro de Convenciones de la Cooperativa de Aguada from 8:00AM-3:00PM.

The documentary RARE will air in Dayton, OH on PBS station WPTD on Sept. 10th at 11:00 pm. Please help us get the word out about this to anyone in the Dayton, OH area! 

Today I had my heart test. I'm really pleased and excited to say that, for now, it looks like I don't have pulmonary hypertension. I'm still at risk for this, as many with pulmonary fibrosis are, but for now, we're in the clear. I was getting increasingly worried about this, so am really happy that this is one additional problem I don't have to manage right now. Yippee!  Sometimes living with HPS feels like living with a ticking bomb in your body that could start to cause major problems at any moment. This would have been another additional problem ticking away - so I'm grateful that for now, we don't have to worry! 

RARE will be screened at The Discovery Museum, 4450 Park Ave, Bridgeport, Conn at 6:00 pm on August 11 th .  If you have questions about the event, call Emilio Ortiz 203-522-3599. Please help us get the word out so we have a nice, well rounded audience. 

Think you hate seeing yourself on film? Most people do. We’re most self conscious about ourselves when watching video. But, how about seeing yourself projected on a screen several stories tall? Oh my, let me tell you, it’s an experience that makes your stomach turn in knots!  In early June I was in Seattle for a screening of the documentary “RARE.” As regular readers would know, “RARE” follows the experiences of the HPS Network during our efforts to fill a phase III drug trial to treat the pulmonary fibrosis of HPS. It particularly centers on the stories of Donna and Ashley Appell, Ashley’s love affair with Mervin, and my experiences as someone who was in the study.  I always get nervous when I sit in a screening of the film for “outsiders” – people who are not part of the HPS community. I can’t imagine how the film producers must feel. It’s like putting your soul out there, your baby, for the world to evaluate. How will they react? Will they get the point? Will they be drawn in b

It's been a long time since I've written a health update. Mom is on her way to pick me up and I've got tons to do, so shouldn't be doing this either - but oh well. I haven't posted much about my health lately because there hasn't been much new to say. It isn't that everything is fine, but more that it's the same old stuff.  Friday I had my first appointment with my new local pulmo. doc. It was a great appointment and I like him. I feel like he  "gets it" which, when you have something rare, isn't always a feeling you go away with on the first appointment.  I was very lucky to meet him at the American Thoracic Society meeting. Actually, I'm surprised we didn't scare him away! He came to the booth looking for information about HPS because he knew he had a new patient coming in with it. As I'd just made the appointment, I took a chance and asked him if he was from KUMed. He said he was, and I introduced myself as his new patien

The documentary RARE was screened as one of many events taking place as part of the Seattle Science Festival on June 4th. Approximately 100 people attended the RARE screening at the Pacific Science Center’s IMAX theater.  After the screening, there was a panel discussion about various aspects of bioethics and participation in clinical research studies. Heather Kirkwood, Vice President of the HPS Network, was on hand for the event and panel discussion. She was joined by Benjamin Wilford, Professor and Head of the Center for Bioethics, Department of Pediatrics, at the Washington School of Medicine. Stephanie Fullerton, Associate Professor of Humanities and Adjunct Professor of Epidemiology at the School of Public Health, University of Washingon, also participated in the panel discussion. Film producer Dr. Maren Grainger-Monsen was also on the panel. She spoke about her goals for the film, as well as why she decided to cover the subject matter as an up-close personal story.