Children with Gauchers Disease

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Dr V Lloyd Woolley Consultant Paediatrician at Gwynedd Hospital, Bangor spoke about five children being treated with Ceredase in Wales. He illustrated how children who suffer from Gauchers disease can be very short for their age but after treatment can catch up significantly.

In one family three out of four children were sufferers. One girl was most severely affected. At one point her spleen started to increase in size very rapidly and she was put on Ceredase at a dose of 60 units per kilo every two weeks and has responded well. Her sister and brother were less severely affected and the question was whether they should be treated too. They were started at a lower dose of 30 units per kilo every two weeks and this was reduced to 15 units and will shortly be reduced to 7½ units. The biggest problem was the length of time (two hours) taken by the infusion. There was no need for catheters and the older children didn't mind the needles because they saw the benefits. There were no allergic problems.

Another girl patient had had a partial splenectomy in 1986 and orthopaedic problems and had been more or less wheelchair bound. She had had problems with vomiting after treatment with Ceredase but this had been treated with another drug. After a year and a quarter, she can now walk and go to disco's which is a major achievement.

The fifth patient is a baby who started treatment at six months, and although treated so young, has shown no neurological symptoms. The main problem was the location of veins when the child was so young.

Dr Woolley reported that the treatment for for his family of three patients was originally paid for by the hospital but later the GP has been prescribing it. The children were infused at the GP's surgery.

Source: Gauchers News February 1995
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