Skip to main content

A new year for the Hundred People Search!

We are kicking off a new year for the Hundred People Search (HPS) and we've got a great start! We have added three new HPSers to the HPS patient registry. We just have 97 to go! Grin! 

The Hundred People Search (HPS) is a yearly campaign in the Hermansky-Pudlak Syndrome community to encourage those with HPS, and our supporters, to help those with HPS find a diagnosis and get registered. 

This is so important for several reasons! 

First, one of the most dangerous things about having HPS is not knowing it. A recent study (that I have on my list of things to blog about) showed that, on average basically, it takes seven years to get an HPS diagnosis. Too many times over the years we've seen someone, unaware they have HPS, end up in a crisis because they didn't know they had a bleeding disorder. Not knowing doesn't give you the chance to learn about, and do, all the things that can keep you healthier longer and improve your quality of life. It doesn't give you the chance to avoid dangerous bleeds that could have been prevented, or early treatment of GI disease. 

Second, there are things available to help. We now have the first treatment (not a cure) for pulmonary fibrosis. We now have access to lung transplants. There are things one needs to know about treating the bleeding of HPS, and it is a changing picture. 

Third, most primary care physicians, even specialists, aren't even aware of HPS, let alone up to date on the latest developments. For better or worse, it is often up to us to be in the know. If you don't have a diagnosis, you can't even begin to climb and conquer that mountain. 

Fourth, while it may not be for everyone, for many of us there is something therapeutic about being part of the solution. Our future is not a set thing, but it is up to us to change it. It is up to us to work on finding the cure. No one is going to do it for us. They might do it with us, but no one cares about curing HPS quite like the people who are impacted by it every day. 

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