Unfortunately some patients have problems that are difficult to diagnose. They may see multiple physicians over many years, imitating the trials of Oddyseus.
Risk factors for a diagnostic odyssey
(1) The patient has a rare disorder.
(2) The patient has a rare manifestation of a disorder.
(3) The available clinicians are unfamiliar with the disorder.
(4) The patient is mislabeled, either with a wrong diagnosis or as having a psychological disorder.
(5) An appropriate consultant is not available.
(6) Other resources are lacking.
(7) Mixed disorder
(8) Absence of an overall diagnostic strategy.
Some people recommend genomic testing to detect a rare disease, but this has limitations.
Some families have been able to make a diagnosis by searching the internet, but this would be hit or miss.
