HPS’ers and CHS’ers urged to participate in Hands Across America

February 29th is International Rare Disease Day, a special day set aside across the world to bring attention to the experiences and issues facing those with rare disorders (affecting 200,000 or fewer people.) As part of this initiative, the National Organization for Rare Disorders is organizing a national online photo gallery of those with rare disorders.

To participate, you need only take a photo of yourself (or your child) holding the Rare Disease Day logo (downloadable at the link below). Then, go to the link below and upload your photo. Fill out the form identifying you (or your child) as a person with Hermansky-Pudlak Syndrome or Chediak-Higashi Syndrome.

http://rarediseaseday.us/meet-the-community/handprints-across-america-gallery/

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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.

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 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...

Living on the frontlines

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