Type 2 Gaucher Disease

For Type 2 families, clinical management is focused on symptomatic care, and detailed advice on management should be given as soon as the diagnosis is made. To enable this, such children should be seen as soon as possible at a specialist centre, although sadly, there is as yet no effective treatment. Their child’s frequent visits to hospital and rapidly deteriorating condition mean that parents have little time to adjust to the situation, let alone liaise with other families. For all these reasons it is difficult to support these families, however some Type 2 families do make contact for emotional support during their child’s illness and following their death. Support should consist of realistic, practical advice on day-to-day management.