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Victoria was born and raised in Venezuela. As a proud father, he has asked for her story to be published here.
Victoria was diagnosed with Gauchers disease at nine years old. Before this time, her parents could not think what was causing her unusual looks of short stature and big belly. She also looked three years younger than her classmates.
In Venezuela, where she was born and where she still lives, no one in the medical community had any idea either. Only one famous local medical doctor and researcher ventured to guess that she might have a rare genetic ailment called Niemann Pick disease. The bad news was there was nothing at the time (1990) to alleviate or cure this uncommon malady.
Diagnosis and Treatment
After several useless trips to various parts of the world, Gaucher disease was diagnosed by an Israeli doctor, Dr Reuben J Mathalon, who was practising internal medicine in one of Miami's most important community children's hospitals.
From then on, things finally took a dif-ferent course. In 1992 Victoria was referred by Dr Mathalon to a research trial for Gaucher disease taking place at the famous National Institutes of Health, better known as NIH, in Bethesda, USA, a few miles north of Washington DC. This protocol was expertly conducted by Dr Roscoe Brady and Dr Norman Barton whose team had developed the original enzyme replacement therapy, Ceredase, for Gaucher disease and which was the precursor to the currently used Cerezyme.
The protocol finally ended in July 1993 and Victoria improved in every-thing: platelet count, white cell, red cell, haemoglobin and, most important to her, the size of her belly shrank. In addition, she grew several inches, became much slender and learned a new language: English.
Previously she only communicated in her native Spanish and a few words in Hungarian, her dad's native tongue. She returned to Venezuela to complete her high school education, graduating in 1998 with high grades.
She was then accepted into one of Venezuela's best technical univer-sities, where she majored in Computer Science Engineering. Her good grades and scholastic achievement made her a recipient of a government funded fellowship.
Victoria graduated in 2003 when she was selected to deliver the commencement speech. She is currently working as a coputer science engineer.
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Source: Gauchers News October 2004.
© Copyright Gauchers Association 2004.