Acceleration of the diagnostic process is the key to changing the way we look at orphan diseases. A remarkable example of how the diagnostic delay in rare diseases impacts life expectancy can be found in Fabry Disease.
The route of the diagnostic 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