Skip to main content

Laying the ground work




It is truly frustrating how many people with Hermansky-Pudlak Syndrome go undiagnosed. Later this year the HPS Network is planning a major outreach effort in Florida. While HPS is not “just a Puerto Rican thing” it is more common in Puerto Rican communities – and Florida has a lot of these communities.

According to the U.S. Census Bureau, there are nearly 800,000 people of Puerto Rican background in Florida. If you stop to consider that HPS typically occurs in one out of every 2,000 odd births in this population – there are likely several hundred HPS’ers walking around in Florida completely unaware they have the syndrome. So, we’re going to try to find them.

Sometime this summer the HPS Network is hoping to host a one-day mini HPS Conference in Orlando. To maximize the efforts of our doctors from the NIH that would come to speak, however, we are trying to build relationships with local hospitals and hopefully do some educational sessions at area medical centers for medical staff.

Elsie and Debbie are working on helping us organize the conference.

And this week Hilda went to Orlando to start knocking on doors and building bridges for the medical outreach effort. Hilda is one of our unsung heroes. We are so blessed to have her. She’s a retired nurse from the NIH. When she was working at the NIH she worked with HPS patients in the natural history study as well as the first Pirfenidone drug trial. Now that she’s retired, I think she may work even more hours than she did while she was working!

Every time I’m up at the NIH for my drug trial follow up appointments there’s Hilda. She’s often translating for someone from Puerto Rico who doesn’t speak English. She’s been known to use her vacation time back at home with her family in Puerto Rico visiting patients and knocking on doors trying to help outreach.

And that’s what she’s doing this week in Florida as well. Monday she met with Debbie and Elsie, and then yesterday Elsie and Hilda pounded the pavement visiting hospitals and making friends. Debbie provides child care for her granddaughter so she couldn’t go along.

I’ll let you know when we have dates for the Orlando conference. We’re arranging the medical education components first because the doctors are likely to be less flexible than the patients. Stay tuned.

And thanks to Hilda, Elsie and Debbie!

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.

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’m h