Christopher Sepúlveda was just 2 years old when his parents noticed something was wrong. Christopher began experiencing involuntary movements of his mouth and eyes, and episodes when he would freeze and not move for nearly two minutes— something their pediatrician at the time said could be a tic disorder. But Christoper's parents were certain it was something else.
They took Christopher to several doctors and hospitals. After months of searching for answers and trying medications that weren't working, Christopher's condition worsened. He stopped walking, talking and reaching developmental milestones. Then the family was referred to Johns Hopkins Children's Center.
That's where they met Sarah Aminoff Kelley, M.D., pediatric neurologist and director of the pediatric epilepsy monitoring unit at Johns Hopkins Children's Center in Baltimore. Kelley and her team performed an electroencephalogram (EEG), a test that measures electrical activity in the brain, and called Christoper's parents the next day with a diagnosis.
Christopher was diagnosed with developmental and epileptic encephalopathy with spike wave activation in sleep (DEE-SWAS), a rare and potentially serious form of childhood epilepsy. DEE-SWAS causes a child to have abnormal electrical activity in their brain, which increases during sleep and can interfere with normal brain development and cognitive functioning.
"These seizures can cause regression in learning, speaking, memory, cognitive skills and more," says Kelley, "The abnormal brain activity often increases at night when the child is trying to sleep, preventing them from getting quality sleep that's essential for learning and memory."
Kelley and her team immediately developed a treatment plan for Christopher, who still had a long road ahead of him. Some medications would only work for a few weeks. Early in his treatment, he suffered a severe seizure during which he turned purple and stopped responding. He spent time in the pediatric intensive care unit (PICU), but Christopher, his care team and his family never gave up hope.
"Dr. Kelley took all of our concerns seriously," says Roberto Sepúlveda, Christopher's father. "If one medicine didn't work, she worked on a new plan for our son. She never stopped looking for answers."
Along with several epilepsy medications, Christopher was put on a high dose of diazepam. Gradually, Christopher's seizures subsided, marking a turning point in his long journey toward recovery.
Now, Christopher is 15 and thriving. It has been years since he had a seizure, and he hasn't needed any medication for his epilepsy since 2019. Although he experienced developmental delays, Christopher has continued to make remarkable progress. He is walking, talking, has learned to ride a bike and is excelling in school. He is also looking forward to beginning swimming lessons to help him build his strength.
For Christopher and his family, the journey has been one of perseverance, hope and gratitude for the medical team that never stopped searching for answers. His progress serves as a reminder of what can be possible for children facing complex neurological conditions.
November is Epilepsy Awareness Month, a time to raise awareness about the neurological disorder and those who live with it.
