Living Life As a Rare Patient and Individual

Living life as a rare individual and patient has its challenges day to day. The best feeling in the world, though, is having support:  being around people who know what you are going through, and actually get it– because they’re probably going through it too.

Hermansky Pudlak Syndrome (HPS) is what I have. HPS is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding. This disorder affects people around the world, but mainly on the island of Puerto Rico.

A lot has changed in the 27 years I’ve been dealing with this rare disease. My goal is to find a cure. We still don’t have one and hopefully sharing my story will inspire others to help find one.


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