Children are the population mostly affected by rare diseases. Half of them begin at childhood. On average, from symptoms to diagnosis, 4.8 years go by until a rare diagnosis is made. A 1/3 of those children will not live to see their fifth birthday. Delayed diagnostic processes contribute to that situation directly.
The route of the diagnstic delay problem lies in the diagnostic approach dominating the contemporary health systems, and guiding physicians throughout their career. Or as the famous saying describes it best: "If you hear the hoofbeats, think of horses, not zebras".
I could not ignore the epidemiological aspect of rare diseases, which is not usually the focus of physicians and researchers. I believe that some problems that are concerning the medical world regarding the rare diseases field, can get unexpected solutions from epidemiology