The group was fortunate to contain a number of experienced members who live or work with children or teenagers with Gauchers disease or a disease with similar neurological symptoms. Dr Vellodi gave a brief explanation of how, if both parents have one copy of the faulty gene, this would result in a one in four chance of having a baby with Gauchers disease. There is a total of about 100 different mutations but there are only a few common mutations. When providing genetic counselling, tests look for the four common mutations in the unborn child. In the past this has been difficult but now with DNA analysis, there is a very reliable indication.
Prenatal diagnosis is offered to sufferers and carriers of the disease.
Two tests can be carried out to identify if the unborn child has any of the common mutations. Both of the tests however carry the risk of miscarriage. Fear remained an issue. Dr Vellodi explained that there is some question over whether or not all brothers and sisters should be tested. Some doctors think they should, others think that testing should only be given if asked for.