Skip to main content

HPS Puerto Rico Conference

This week is a big week in HPSland. This coming weekend is the second annual HPS Family Conference in Puerto Rico. I can’t tell you how much I wish I was there. Just as they did last year, HPS Network Puerto Rico has done an awesome job generating media interest and putting the conference together.

It’s also an exciting conference because nearly all of our doctors from NIH will be there. That is a real testament to their commitment to us – I know it wasn’t easy to make that possible. A very special thanks to Dr. Gahl, Dr. Markello, Dr. Guchicco, Dr. Merideth and Dr. Yao for being willing to invest so much of their personal time on this project.

Kevin, our nurse practitioner, and Jose, the scheduler a.k.a translator, a.k.a problem solver (think Radar and Clinger from M.A.S.H.) have been in Puerto Rico since this past weekend. They’ve been traveling the island with Hilda, a nurse who has worked with the HPS patients at NIH for years. She retired last year and now works with us as a volunteer, but ironically, I think she’s working more hours as a retired volunteer than she did when she was fully employed at NIH. The trio, from what I hear, have been doing interviews, visiting families from house to house, etc. trying to educate people about Hermansky-Pudlak Syndrome, its risks and the research underway. (A big thank you to all of you!)

Another exciting development is that some of our HPS troupe will be visiting a medical school in San Juan on Thursday to talk to the medical students about HPS.

We are also very excited that our doctors-only evening, and the family conference on Saturday, are generating a lot of registrations from doctors. Somehow, it was worked out that the doctors will be able to receive continuing education credits for their attendance. Since they’ve got to have their credits for the year in by November, there’s been a lot of interest.

Lastly, a very special thanks to Ivette for working so hard on this conference.

I was thinking the other day about a friend of mine that was disappointed she was unable to participate in one of the trials, and another who was working on a fundraising project, and another who has connected to a newly-diagnosed family and is trying to offer some moral support, and so many others. I was thinking about how much the HPS Network is like the concept of the body of Christ. (I hope no one is offended by that comparison.)

There are no unimportant parts of the body. There are a lot of down sides to having an ultra rare disorder, but perhaps one of the up sides is that we can all gain such a sense of empowerment by playing what ever role our talents best fit. Some of us are the toes, others the legs and others the arms. We all depend on each other. Some of us are best at fundraising. Some of us are best at supporting the people who are good at fundraising. Some of us are writers and are helping to document the story of what it’s like to live with HPS. Some of us bring an astute sense of business to helping the Network run. Some of us are great at generating new ideas, while others are better at keeping track of the fine details to make a project happen. Some of us are great at being a caring, listening ear for others. Some of us are good research candidates, and others have the spiritual gifts to pray for the Network and the needs of everyone involved.

It’s neat to watch people of such a varied background, with nothing in common but a wonky gene, come together, beat the odds and make great things happen.

One quick addendum – please pray for everyone’s safe travel on this trip. I grew up around airplanes. I not afraid of flying etc. Still, the idea of more than one of our doctors on the same plane, or in the same van etc. makes me send a few extra prayers up to heaven.

Comments

Popular posts from this blog

Ratner's Cheesecake

Here's another recipe from Toby! Thanks Toby......and I'll get the others posted soon! Ratner's Cheesecake and plain cookies Ratner's was a Jewish dairy restaurant in the lower East Side of Manhattan. This recipe, from my disintegrating, no longer in print Ratner's cookbook, is the closest I've ever gotten to reproducing the rich, heavy cheesecake my mother made when I was a kid. It's worth the time it takes to prepare and every last calorie. Dough Can be prepared in advance. Makes enough for two cakes. Can be frozen or used to make cookies – see recipe below. 1 cup sugar 1 teaspoon vanilla extract 1 cup shortening 1 teaspoon lemon extract 1 cup butter 2 eggs 3 cups sifted cake flour ½ teaspoon salt 2 cups all purpose flour 1 teaspoon baking powder 1. In a bowl, combine all ingredients with hands. Refrigerate 3 -4 hours, or preferably overnight. Filling (for

The next generation with Hermansky-Pudlak Syndrome

I'm so behind on posting about the trip to Puerto Rico. Since the episode of Mystery Diagnosis on Hermansky-Pudlak Syndrome ran right after we got home, it's been a little busy. These, however, are my favorite pictures from Puerto Rico. I know, not pretty senery etc - but these little guys and gals inspire me. They are the next generation of folks with HPS, and if we keep up the hard work, they will live better lives because of it. They motivate me.

Some good news about Pirfenidone

Below is a press release from Intermune, the company that makes Pirfenidone. They have essentially reviewed the various clinical trials going on, and decided that Pirfenidone is safe and well tolerated. That would pretty much go along with what we've observed in the HPS community as well. We have a few folks that have been on the drug since the late 90s and continue to do well. Of course, as a journalist, I do have to say consider the source - but at the same time, as someone in a Pirfenidone trial, it's good to know. Results of Comprehensive Safety Analysis of pirfenidone In IPF Patients Presented At European Respiratory Meeting - Analysis shows safety and tolerability of pirfenidone across four clinical trials - VIENNA, Sept. 14 /PRNewswire-FirstCall/ -- InterMune, Inc. (Nasdaq: ITMN ) today announced that the results of a comprehensive review of safety data from four clinical studies were presented at the 2009 European Respiratory Society Annual Congress in Vienna, Austria