Children have the right to a name, a nationality, a family life and a diagnosis
The right of a child to have a name and nationality can be compared to the right to have a diagnosis of their medical condition. We recognise that this is one of the challenges of living with rare disease, but an early and accurate diagnosis gives the person the best opportunity to receive the medical care they need.
A simple path for diagnosis is needed. Delays in diagnosis can cause mental and financial stress for both the child and their family. Until there is a diagnosis, the disease may progress and there may be ineffective treatment that can increase this stress even more.
Diagnosis doesn’t mean there will be a cure, but it can provide a family with certainty and an ability to plan. Some families may never receive a diagnosis, but the opportunity to try to find one and the support for doing so needs to be given.