Skip to main content

Keeping our collective fingers crossed

Since I first noticed the Associated Press story about Hermansky-Pudlak Syndrome on the wire Friday, I’ve been on pins and needles. My latest count shows the story was picked up by a total of 84 news outlets.

What will happen next? The article didn’t contain any way to contact the Network or obtain testing for HPS. Will anyone read it – a doctor, mother, father or friend – and see someone they know in the description? Will they be brave enough to pass it along? Will they go to the effort to google HPS? Will they be too frightened by what they read to follow it further? Will they understand that early diagnosis gives you such advantage in fighting the disorder?

All weekend long I’ve had calls from HPS’ers wanting to know if anyone new has materialized. Did the coverage uncover any new families? It isn’t that we’ve got some sort of morbid wish that some new sick person will appear. It’s that we know how important this diagnosis can be, and we all know there are literally hundreds, probably even thousands of people with albinism out there that have no idea they have a type of HPS.

Because people with albinism aren’t routinely tested, so many people won’t ever know they’ve got HPS until they find themselves in a crisis, if they ever know it at all.

We have so many hopes riding on this coverage.
Labels:

Comments

Post a Comment

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
1 comment
Read more

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.
Post a Comment
Read more

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
Post a Comment
Read more