When Charlotte D’Amario was about 4½ months old, she began making odd, forward-lurching movements. At first, her pediatrician thought it was reflux—that she was trying to spit up. “It was getting worse and worse, and no one had a clue as to what it was,” says Allyson, her mother.
Her parents started to videotape her while she made these odd motions. They occurred in clusters of as many as 50 at a time, several times a day. Seeing videos of Charlotte at 8½ months, her pediatrician sent her to a neurologist. An electroencephalogram (EEG) revealed seizure activity, and an MRI scan showed tuber-shaped growths in Charlotte’s brain.
Charlotte was diagnosed with tuberous sclerosis complex (TSC), a rare genetic condition in which benign tumors grow in the brain and other organs such as the skin, heart, eyes, kidneys and lungs. In about 90 percent of children, it causes epilepsy that can result in developmental delays.
Charlotte’s parents were worried. “She wasn’t crawling or rolling, wasn’t hitting those baby milestones,” says Allyson. …