Skip to main content

Looking for HPS'ers with a gene type that does NOT cause lung disease

The National Institutes of Health is interested in seeing HPS'ers with a gene type that does not cause lung disease. (This would be type 3, 5, 6, 7, or 8.......) They are interested in performing lung lavages on HPS'ers that are not at risk for lung disease in order to collect fluid for the lungs (BAL fluid) to be used to compare to that of HPS'ers that have gene types that do cause lung disease. 


They have noticed that the BAL fluid of HPS'ers that have genes that cause lung disease has differences from that of control groups. They need to determine whether those differences are part of HPS in general, or whether they are unique to HPS'ers that will develop lung disease. 


A lung lavage involves putting a tube down your throat and into your lungs, flushing liquid into the lungs, and then sucking up the fluid after you cough. It sounds horrible, but I've had it done several times and it's not that bad. They give you wonderful drugs! While you do have to be awake in order to follow instructions, you don't remember anything. It's just as if you were asleep. 


If you are interested in learning more about this opportunity to help with HPS research, contact me at: hkdawn@yahoo.com - or call the HPS office at: (800) 789-9HPS. 

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.

The blog is back, I hope

  What started as a way to share news about HPS and what it is like to live with Hermansky-Pudlak Syndrome has fallen apart badly! There are a lot of reasons for this. Some are related to health. Some are related to time. And some are related to mental health. Finally, the last obstacle was technical. I lost access to my blog. Every time I started to work on regaining access, something interrupted the process and I’d have to start all over again. Before you say it, I know. A blog is so old school. Haven’t you heard of a vlog Heather? Or maybe TikTok? I know my limits. I have a great face for radio. I’m not particularly eager to film myself. When I do, I feel I need to spend extra time putting on makeup or fixing my hair. Yet, often when I have the time to do something like this, it is early in the morning or late at night. I don’t want to “get ready.” I’m having a hard enough time squeezing this in without staging myself. Grin. I’m trying to start with small goals. Right now, I...