Skip to main content

It’s almost time!

Only a few days left until we’re off to New York for the Hermansky-Pudlak Syndrome Family Conference! There’s a part of me that is very excited, looking forward to seeing all my HPS friends and to hearing all the latest in the research. Then, there’s a part of me thinking about all the details, the board meeting, the nuts and bolts of making something like this run – and I can hardly wait for it to be over. I can’t imagine how Donna and the Oyster Bay team must feel.

Last year I went on Wednesday and stayed at Donna’s house to help get things ready. We stayed up until about 2:00 am before Richard, Donna’s husband, came downstairs and “made” us go to bed. We were up at six the next morning finishing photocopying, putting together packets etc. The Appell house was a hive of activity with volunteers coming and going, things being loaded into trucks to take to the hotel – and all the while we’re trying to remember what’s still there and what has gone and what we’ve forgotten.

I offered to go early again this year, but Donna said she’d rather save one of my vacation days for working on the film project, or going to a medical meeting or something like that. Now that it’s deadline time at work, I’m thankful I didn’t go on Wednesday. Things aren’t going well at work as my feature is STRESSING ME OUT!

It’s funny how the easiest stories can turn out to be the biggest pain in the you-know-what.

So, after working on board meeting stuff all this evening, I’m off to bed. I want to try to be at work by seven.

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.

Help for one of our newest HPS friends

As many of you know, I have a google alert set up for all sorts of key terms like albinism, pulmonary fibrosis etc. The following was posted on the blog of a friend of Melanie's. Melanie is one of our newest members of the Hermansky-Pudlak Syndrome family. Unfortunately, like so many she didn't know she had HPS and the lung disease sort of snuck up on her. Melanie will be 26 years old next week. Perhaps some of us would like to contribute to the fund set up to help her and her family for her birthday. Here's the post: Melanie Hernandez, beloved sister and daughter to Pete, Monique, Cookie, and Bugie, has been diagnosed with Pulmonary Fibrosis, a lung disease occurring in people with Hermansky-Pudlak Syndrome, a very rare disease.Hermansky-Pudlak Syndrome (“HPS”) is a genetic metabolic disorder. It is characterized by: Albinism, Vision Impairment, Bleeding Disorder, Inflammatory Bowel Disease and Lung Disease – Pulmonary Fibrosis. With the family’s research and the recollect