Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Table 3

Length of diagnostic odyssey for four patients with EOEE.

Patient	Age at first presentation of symptoms	Age when blood was drawn for WES	Age at final genetic diagnosis	Length of diagnostic odyssey	Change in medical management or familial impact
C1	4 months	6.7 years	7.0 years	6.3 years	Change in physical therapy
C2	4 months	8.3 years	8.6 years	8.2 years	Change in physical therapy
C3	72 days	1.2 years	1.7 years	1.4 years	Repeated changes in formula to help growth were stopped when it became apparent that patients with KARS have progressive microcephaly and failure to thrive. Genetic results utilized for prenatal genetic testing on subsequent pregnancy
C4	3 months	1.8 years	2.1 years	1.8 years	Parental anxiety reduced; parents were able to change medications