Contact with HPS Japan

This week we heard from HPS Japan. Oh how I wish I could find a good Japanese translator! It seems there’s an HPSer in Japan trying to get listed for a lung transplant. I’m anxious to hear back about whether they’ve had a successful HPS lung transplant in Japan. We’ve had two in the U.S., which is making it easier for other HPS’ers to be listed than it has been in the past. We also heard from a doctor in Japan with an interest in HPS. I'm already aware of several researchers in Japan doing work on HPS. One of them was at the Pigment Cell Conference last November.

Those of us with Hermansky-Pudlak Syndrome are so anxious to hear from our counterparts in Japan. We all feel so close to one another because our shared experience and we’re so anxious to learn about the experiences of those with HPS in Japan. We’re anxious to trade information, both in hopes that we can learn from them, and that they can learn from us.

It’s just in the last year that we’ve learned that Hermansky-Pudlak Syndrome is the second most common type of albinism in Japan.

Comments

Anonymous said…

How exciting. Please keep us up on what you hear from them. What else do you know about the patient waiting for a lung transplant. Male/Femanl? Age?

Julie

6:53 PM

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

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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.

Some good news about Pirfenidone

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Living on the frontlines

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