Glenn

Glenn was born healthy and happy and seemingly perfect. We watched him hit all of his milestones early and laughed at his playfulness and dancing. By age 3 he had one seizure, and by age 4 he had twelve more and stopped dancing. Glenn began to ignore the world around him, and the seizures took on a terrifying trait: status epilepticus. We nearly lost Glenn four times in 2010 before we received the cerebral folate deficiency diagnosis, and with the addition of folinic acid to his regimen, his seizures decreased, and he began to engage.

~Annette, Glenn’s Mom

KBG Syndrome

KBG syndrome (KBG) is a rare disorder that affects several body systems. KBG represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. A characteristic feature of KBG syndrome is unusually large upper front teeth. Other distinctive facial features include a wide, short skull, a triangular face shape, widely spaced eyes, wide eyebrows that may grow together in the middle, a prominent nasal bridge, a long space between the nose and upper lip, and a thin upper lip.

Artist: Robert Hurst