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Meet Ana


One of the things I've always wanted to do with this blog is archive the stories of others with HPS. I've wanted to do this for several reasons. First off, we can learn so much from each other's stories. Second, it's a way of documenting our history. Third, these stories come in handy when doing educational sessions or outreach. They put a face on the medical facts. Ana recently wrote her story down and sent it to me. Here it is:

As a child I always had numerous bruises on my legs and arms, where I bumped into things. I burned easily in the sun, and had trouble seeing in the bright sunny days of the Caribbean Island, where I grew up, Puerto Rico. But it was not until around 1998, when I was to get the earth-shattering news that I had a disease for which there is no known cure. I learned that I had tested positive for Hermansky-Pudlak Syndrome.

My world was turned upside down as I was now the mother of a three year old daughter with no family support whatsoever. The prospect of developing the pulmonay fibrosis of HPS was almost too much to bear. Those affected by the fibrosis usually do not live past the age of 40, I was already way beyond that. Bur forge forward I must, which brings us to today, ten years later. I am still not certain whether my fibrosis has started or not.

Before being diagnosed with HPS, I had a bleeding ulcer. This was very serious, I bled for days and required hosptialization and transfusion.


My strabismus and knee surgeries were done with minimal bleeding.

In 1995, my daughter was born, for which I had a C-Section. This was a very serious episode also, the bleeding was uncontrollable for many hours, to the point where I was losing consciousness and was about to be transfused, but miraculously the bleeding subsided on it's own.

Several years ago, I had a double hernia repair, I was administered DDAVP, which did not work. Then as the bleeding continued after the surgery, I was transfused with whole blood, even though I kept telling the team of doctors that I needed a platelet tranfusion, not whole blood.

More recently, I had a lung biopsy. Platelets were administered and the surgery was uneventful.

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