Children with Gaucher Disease

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Dr Paige Kaplan, who heads the Gaucher Center at the Children's Hospital of Philadelphia, spoke about the symptoms and problems of children with Gauchers Disease at the National Gaucher Foundation Conference on 12 November 2000.

Dr Kaplan said that Type 1 Gaucher disease could be diagnosed at any age but the earlier the disease is diagnosed, the more likely the disease will be serious. Therefore all children with symptoms should receive enzyme replacement treatment.

Diagnosis should be confirmed by an enzyme assay test taken from a blood sample. Bone marrow tests, liver biopsies or fibroblast assays (taken from a skin sample) are not necessary.

DNA testing is useful for genotyping (identifying the two mutated genes that a child has inherited from each of his or her parents).

Children with the genotype N370S/N370S tend to have milder disease although not always. More severe mutations include N370S with 84GG, IV2+1 or L444P but if a child has at least one N370S mutation, their brain function will not be affected. The genotype L444P/L444P has been found in some Type 1 patients although it is often related to neuronopathic Gaucher disease.


The most common symptoms are:

Psychological Effects

Children may develop psychological problems (which may also apply to adults), for example, fear of needles. They may ask: 'why am I different?' Children may isolate themselves from other children and have lower self-esteem.

Children should not think of Gaucher as a disease but as a condition. Other kids have other conditions. They should not be made to feel ill; instead they should be told: 'You have a condition but are not ill.'

They should talk to friends about their condition. Their friends will be interested and won't reject them. Children should be encouraged to contact other children with Gaucher disease but Dr Kaplan has found that many tended not to want to do this. Parents may have feelings of upset, guilt or denial. They may be over protective and accentuate their child's ?illness?. They may unnecessarily limit their child's activities or their child may not be allowed to play with other children.

Siblings may feel jealous and may need psychological help.


Almost all children with Gaucher disease will need Cerezyme at a high dose eg 30 units to 60 units/kilogram/bodyweight for a considerable time. However Dr Kaplan lowers the dose as the children improve in their spleen size, blood counts and bones. During the first year of treatment, Dr Kaplan believes that therapy should be infused in hospital in case of adverse effects. During the second year, home infusion is strongly recommended. This normalises life, prevents taking time off school, parents don't miss work and the family can live as normal a life as possible.

Teenagers can continue getting infusions when they go to college.


Dr Kaplan recommends monitoring children every six months so that if problems occur, intervention comes quickly.

Children's height and weight should be measured. They should have annual X-rays, bone density measurements, MRIs of bones, liver and spleen, and possibly CT scans of liver and spleen.

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Source: Gauchers News March 2001.
© Copyright Gauchers Association 2001