Children with rare diseases, and those with undiagnosed diseases need to be reviewed regularly. Rare diseases and the research surrounding them can be fast changing. As technology advances in genetics, and research is shared across the world, rare diseases are becoming better recognised and treated. These fast changes provide hope for improved testing and treatment in the future. As scientific literature surrounding conditions changes, people with these rare diseases need to be reviewed.
Regular review is also significant for those children with undiagnosed diseases. Although a diagnosis may not have been reached when the child was first assessed, it does not mean that a diagnosis will not be provided in the future. By regularly reviewing children with rare and undiagnosed diseases it may be possible to provide new diagnoses, treatments, or other management options.