Thursday, June 26, 2008

Hermansky-Pudlak Syndrome makes the news in Orlando!

Here's a story that ran in this morning's Orlando Sentinel. Way to go Florida team! And way to go Orlando Sentinel. I've been writing to reporters at the Sentinel for years. I'm so glad they picked up the story when we were in town! It might be nice if HPS'ers left some nice comments in the comment section. Let them know what a difference that coverage can make!
Puerto Ricans at higher risk for rare, dangerous form of albinism
Jeannette Rivera-lyles
Sentinel Staff Writer
June 26, 2008

As a child, Debbie P�rez's nearly white hair, fair skin and pale-blue eyes made her stand out among her Puerto Rican family members.Little did anyone know that the differences went beyond appearance. It wasn't until P�rez was an adult that she was diagnosed with a rare -- and potentially lethal -- form of albinism called HPS (Hermansky-Pudlak Syndrome) that affects Puerto Ricans at a much higher rate than any other group.

"I bruised very easily and had nosebleeds that lasted four hours," said P�rez, of Orlando. "But I came to accept that as normal for me."Her condition was far from normal.In addition to the sometimes obvious physical differences, albinos with HPS have blood-clotting problems that can cause death and are prone to intestinal ulcers.

Some will develop pulmonary fibrosis, a deadly lung disease.

In the population at large, only one person in 500,000 carries the HPS gene.

But among Puerto Ricans, - go to the Sentinel Web site to read the whole story -,0,7662124.story

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