Hi, my name is Patrizia Gentile, and I am the Association founder and president.
I'm also the mother of Alex, a child that is affected with XLPDR
The first time that I came to the web, I only knew the disease name. No doctors contact, no reference center, no other families to talk with. I only had two numbers: "six", was the total number of families involved, all over the world! And "one" was the total number of families involved in Italy: OUR ONE!
Our first steps have been the update of the italian and english wikipedia XLPDR pages, the facebook page and group, and this website in its first and present version.
So far, we got some good results: now we have a reference center, we're in touch with a few families in USA and Canada and with the only one american researcher, doctor Andrew Zinn, that since twenty years is studying this disease.
Everything has been possibile thanks to the help of a few wonderful people, like Rosy and Salvatore, that supported me also in my dark moments. People that stole time to their families to help me in my quest for information and details about our possible "future".
This friendship gave birth to our non-profit (ONLUS) association whose target is to become the reference point for all families that are dealing with XLPDR and also with othwe very rare diseases.
One day I'd like to tell my son that "your mother tried to catch the moon for you"....
Other members of the association are:
vice president: Salvatore Randazzo. He deals with every techological problem. He helps with internet, facebook, websites, wikipedia and other computer related problems.
secretary: Rosella (Rosy) Demarco. She's kindergarten teacher, and also Alex's teacher.
logistics manager: Enea Granini. He's Patrizia's husband.