Translated From Portuguese:
I’m 38, I’m Brazilian. When I was very little my mother said that I was always sick … And after many tests and attempts to find out what I really had, a medical hematologist told my parents that I was a carrier of gaucher type 1 syndrome, this occurred when I was 5 years old.
I spent childhood without medication because the enzyme was not created or the information on it only came to us when I was already 15 years (1992).
Even my fifteen years spent my childhood with many bone pain especially in the legs, and to relieve pain was in a cast or in traction always with pain medication … because of that my left leg suffered shortening of 2cm and also have necrosis in the left femur, probably have to perform surgery in the future to deploy prosthesis.
To 8 years did a splenectomy (removed spleen) was huge …From the age of 15 I started treatment with Cerezyme enzyme and since then my pain decreased a lot. Only recently I suffered from pain because Brazil’s government decided to decrease the dose provided …
I have a two year old daughter and I’ve done the blood test and thank God she is not a carrier.
-Fabiana Tanaka; São Paulo, Brazil