Stories about: CDKL5

CDKL5: Understanding rare epilepsies, patient by patient, neuron by neuron

CDKL5 epilepsy
Haley with her parents and neurologist Heather Olson (right)

Nine-year-old Haley Hilt has had intractable seizures all her life. Though she cannot speak, she communicates volumes with her eyes. Using a tablet she controls with her gaze, she can tell her parents when her head hurts and has shown that she knows her letters, numbers and shapes.

Haley is one of a growing group of children who are advancing the science around CDKL5 epilepsy, Haley’s newly recognized genetic disorder. When Boston Children’s Hospital geneticist Joan Stoler, MD, diagnosed Haley in 2009, there were perhaps 100 cases known in the world; today, there are estimated to be a few thousand. Haley’s neurologist, Heather Olson, MD, leads a CDKL5 Center of Excellence at the hospital that is bringing the condition into better view.

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