Neuronopathic Gaucher's News Contents
Gaucher's News Contents
Dr Schiffmann was introduced by Gregory Macres who with his wife Deborah, has founded the Children's Gaucher Research Fund to raise money for medical research into the cause of Neuronopathic Gaucher disease.
Mr Macres said: 'In 1993 my wife Deborah, who is a neonatal intensive care nurse, gave birth to our son, little Gregory, a healthy 8lb boy but at age seven months he started to have health problems.
He was falling behind in growth, had swallowing problems and soon showed signs of supra nuclear gaze palsy (abnormal eye movements).
Finally at 11½ months, after numerous medical consultations, little Gregory was diagnosed with Type 3 Gaucher disease.
Gregory battled this disease for just over four years but passed away during a bone marrow transplant at the University of Minnesota on 13 April 1997.
Neuronopathic Gauchers disease, both Types 2 and 3, is still a puzzle and we need to solve it. Our goal is to find out what is happening in the brains of these children.'
Earlier article on Children's Gaucher
Research Fund
Neuronopathic Gaucher's News Contents
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Source: Gaucher's News February 2000. © Copyright Gauchers Association 2000