In subsequent pregnancies, the fetus can be tested early in pregnancy. Otherwise if someone is found to be a carrier of Types 2 or 3, the chances of the other partner also being a carrier is extremely rare but screening can be obtained. It is possible that one parent has the disease and the other partner also has the genetic markers for it but with no symptoms. Therefore the child may develop the disease or alternatively may not show any symptoms during its lifetime. The child may not have the disease as severely as the parent but there is a possibility of it being more severely affected depending on the genotype of the other parent.
Symptoms vary considerably even among relatives who have inherited the same gene mutations.
If both parents are carriers, there is a one in four chance in each pregnancy that the child will have the disease or the genetic markers for it. Research continues to find other treatments for Gauchers disease. It is possible that in 10 years time, gene therapy will be available as a curative treatment. Most families are concerned with some disability within their pedigree, whether it be conditions like asthma and diabetes, learning difficulties or 'difficult' children. In Britain today, most couples fall in love before they consider marriage or having children.