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Neuronopathic Gaucher Disease
Tomas is 7 years old and was the first Swedish child with Type 3 Gaucher's Disease to be given enzyme replacement therapy. He was severely sick when treatment started 4 years ago, writes his father, Bo.
His spleen and liver had grown to enormous proportions (more than 20% of his body weight) and this caused him a lot of problems . He had had several painful splenic infarcts.
Fortunately he had only mild neurological symptoms regarding his eye movements. However we knew that he would hardly survive his 6th birthday because the disease progressed so rapidly. It was a real nightmare situation for our family until March 1992.
Only a few weeks after the first infusion of Ceredase, we observed that he gained more and more energy.
During the spring his physical status improved dramatically and that summer in 1992 was the first summer he really could play together with the other children in the neighbourhood.
His improvement has continued and now he is an energetic and happy schoolboy who likes mathematics and drawing.
Tomas also likes to skate and play football. Not bad for a boy who was unable to climb a stair four years ago. He is indeed a living proof that Gauchers disease Type 3 can be treated efficiently.
Tomas sends his greetings to all Gauchers kids everywhere.
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Neuronopathic Gaucher's News Contents
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Source: Gaucher's News March 1996. © Copyright Gauchers Association 1996.