Living on the frontlines

Since its debut, the episode of Mystery Diagnosis featuring Hermansky-Pudlak Syndrome has aired a number of times. Each time we’ve had inquiries from people who identified with the story and would like to be tested for HPS. It’s been an interesting group. With the exception of one person we’re pretty confident does not have HPS, everyone who has called in has albinism and GI issues. Several report all kinds of bleeding issues. The vast majority indeed do not appear to be of Puerto Rican heritage. It’s amazing when you consider that HPS is supposed to be so rare – indeed so rare that some would argue no attention really needs to be paid to it. (Not me of course) What are the odds that these people not only have symptoms of HPS, but happened to catch the episode of Mystery Diagnosis? How many more are out there that simply have never heard of the syndrome? The next step is testing. We can answer questions and help people seek testing, but that’s all we can do. It’s up to them to follow t...

Rep. Joseph Crowley (D-NY) and Fred Upton (R-MI) have formed the Rare and Neglected Disease Caucus. A Congressional caucus is formed by members of Congress to provide a forum for specific issues or legislation of interest to a specific group. A number of caucus groups exist in the Congress. Their main function is to help draw attention to issues of importance to their membership. The Rare and Neglected Disease Caucus intends to begin by focusing on the following issues: Bringing greater Congressional attention to the more than 6,000 rare and orphan diseases that currently have no FDA approved treatments; Ensuring sufficient funding for rare disease research and medical device development; Ensuring ways to incentivize companies to develop products for rare diseases; Providing a forum for Congressional representatives and various stakeholders in the rare disease community to come together to discuss issues of common concern.

The entire trip Puerto Rico had the prettiest clouds. The photos don't do it justice. It doesn't even begin to compare with being there in person. I loved the light in the sky here. This was taken out the car window.

My trip to Puerto Rico was AWESOME! The only flaw was that it was too short. The HPS Network Puerto Rico did a fantastic job organizing outreach and the conference. It was a wonderful day and I was so grateful for the opportunity to meet so many wonderful people. I think Donna and Ashley must have been laughing at me as our plane descended from the clouds. Perhaps I just happened to be in Puerto Rico during a time with a lot of thunderstorms, but the entire trip there were the most amazing clouds in the sky. They were amazing even as the plane dropped down out of the sky. Below I could see a rainbow between the puffy clouds that looked like suspended cotton balls. It seemed like a great way to start any trip. Although I lived near the ocean when we lived in Germany, the ocean around Puerto Rico is nothing like the North Sea. From the plane I could look out and see the white caps on the waves and water that was such a deep blue – not a chilly gray like the North Sea. As the island came ...

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.

I am so overdue posting these pics. This is an unofficial HPS get together in Boston. It was Franie the Cat and Maria's birthday. I've been meaning to post since before Puerto Rico. I'm just THAT far behind. I love these pics - and this get together - because really it has nothing to do with HPS. These are just a bunch of friends who enjoyed spending time with each other - don't they look like they're having a great time? I wish I could have been there too!!!!!