Christopher Sepúlveda was 2 years old when involuntary mouth and movement episodes began, along with freezing spells lasting nearly two minutes.
Parents seek additional opinions after multiple medications fail
A local pediatrician initially diagnosed the symptoms as a potential tic disorder. However, Christopher’s parents sought out additional opinions after trying multiple medications that failed to alleviate his condition. Over the following months, Christopher experienced a severe developmental regression, losing the ability to walk and talk while missing subsequent milestones. The family received a referral to the Johns Hopkins Children’s Center in Baltimore, where they met Sarah Aminoff Kelley, M.D., pediatric neurologist and director of the pediatric epilepsy monitoring unit.
Team administers electroencephalogram to record brain electrical activity
Dr. Kelley and her team administered an electroencephalogram (EEG) to record brain electrical activity, delivering a diagnosis the following day. Christopher had developmental and epileptic encephalopathy with spike wave activation in sleep (DEE-SWAS), a rare childhood epilepsy disorder characterized by abnormal electrical bursts that intensify during sleep cycles. These nocturnal seizure patterns disrupt restorative sleep essential for cognitive functioning, memory retention, and speech development. Following the diagnosis, the medical team formulated a phased treatment strategy involving various antiepileptic medications and high-dose diazepam.
Critical seizure requires emergency admission to pediatric intensive care unit
Initial therapies proved challenging, as several medications only yielded temporary relief before failing. Christopher suffered a critical seizure early in the treatment timeline that caused cyanosis and unresponsiveness, requiring emergency admission to the pediatric intensive care unit (PICU). “Dr. Kelley took all of our concerns seriously,” Roberto Sepúlveda said regarding the ongoing care provided by the pediatric neurologist. “If one medicine didn’t work, she worked on a new plan for our son. She never stopped looking for answers.” The sustained pharmacological intervention eventually suppressed the abnormal electrical activity, marking a turning point in his recovery.
Current Status at Age 15
Christopher is now 15 years old, seizure-free, and has remained off all epilepsy medications since 2019. Despite early developmental setbacks, he has regained the ability to walk and talk, mastered riding a bicycle, and maintains strong academic performance in school. He is currently preparing to start swimming lessons to further build physical strength.
Childhood epilepsy condition causes abnormal brain electrical activity
What is DEE-SWAS?
Developmental and epileptic encephalopathy with spike wave activation in sleep is a rare childhood epilepsy condition. It causes abnormal brain electrical activity that surges during sleep, interfering with cognitive development and speech.
How was Christopher Sepúlveda diagnosed?
Doctors at Johns Hopkins Children’s Center performed an electroencephalogram (EEG) to measure his brain’s electrical activity after initial treatments failed.
When did Christopher stop taking epilepsy medication?
He has not required any medication for his epilepsy since 2019, following a gradual stabilization achieved with pediatric specialists.
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