The rare disease diagnostic odyssey

Peo­ple with rare dis­eases often face a long and emo­tion­al search for a diag­no­sis. They’ll typ­i­cal­ly see sev­er­al clin­i­cians, under­go myr­i­ad tests and, all too often, spend years in the pur­suit of the answer. While genet­ic test­ing has offered hope to many, the aver­age time from the onset of symp­toms to an accu­rate diag­no­sis is about five years, accord­ing to the Glob­al Com­mis­sion to End the Diag­nos­tic Odyssey for Chil­dren with Rare Dis­eases. Some patients still face the prospect of nev­er get­ting one. ‘Odyssey’ is clear­ly an apt metaphor for what many patients and their fam­i­lies expe­ri­ence.