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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!

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