Skip to main content

In the beginning there were legal pads

Katy's questions about conference have had my mind churning about all the things to tell a new person about conference. The Hermansky-Pudlak Syndrome Conference really is an amazing thing. It grows about 20 percent a year.

The very first HPS Conference was held at the Appell dining room table with I think about four families. Seeing the home video really is a treat both because it's so hard to believe we started so humbly and because it's amazing to see how far we've come. At the first conference the Appells invited some of the world's leading rare disease researchers to a "medical conference" at their house. And, they actually showed up!

The home video is a riot. There's a guy drawing pictures of DNA on a yellow legal pad because no one thought to have a flip chart. All the while the kids are running around the table, in and out of the kitchen and living room - until Ashley's room became "child care." Every time I think about it it's just amazing to me.

The next year's video is equally "cute." The conference had grown to something like 10 families and thus had to be moved to the Appell basement. Flip charts made an appearance and the children were kept upstairs.

But the funniest thing about the home video to me are the urine collection jugs. Dr. Gahl, at that time brand new to HPS research, wanted urine samples from everyone. Well, how do you keep urine cold in the winter in New York? You line it up in a snow bank on the back porch of course! So there was a row of the urine collection jugs like they use at NIH, bright orange jugs, with every one's name on their jug all lined up in the snowbank. Dr. Gahl had the privilege that year of driving back to Washington, DC with something like 30 jugs of urine in his car. Can you imagine if he'd been stopped by the cops? Ahhh, the things we do for science!

Last year's conference had about 220 people in attendance. It was the first year we were able to have multiple sessions going on at once, something we're doing again this year. We've come a long way baby! But, we've got so much further to go!

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