Hundred People Search Update:

Hundred People Search Update: This week we have added two new HPSers to the registry. This puts us at 77 to go on this year's Hundred People Search - H.P.S. For our newer people, the Hundred People Search is a yearly outreach challenge. We've never actually hit 100. It isn't that we want people to have Hermansky-Pudlak Syndrome - it's that if they have HPS, we want them to have an accurate diagnosis and to be able to give them information to help them advocate for their needs. The scary thing isn't having HPS, it's having it and not knowing it.

To that end, there was a recent lengthy discussion on one of the general albinism facebook groups about testing for HPS. Bravo on the outreach!!! Several HPS community folks spoke up and helped to educate. I don't know if these two things are related or not, but the office tells me they've had a spike in calls from people seeking information about testing for HPS.

Outreach online isn't only effective - it's free! Keep it up! And THANK YOU!

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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

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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

Living on the frontlines

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