Ellie’s Story

When Irina and Tony Colon’s daughter, Ellie, was 3 years old, they noticed she was having what Irina described as “brain freezes.” Looking back now, they realize these were Ellie’s first seizures. When she had her first tonic-clonic seizure several months later, their pediatric neurologist said it could just be a one-off, but it wasn’t. The Colons made an appointment for Ellie to get an electroencephalogram (EEG), but the seizures began happening more frequently leading up to the test. During one incident, Ellie’s seizure was so severe that the Colons immediately went to the emergency room. The pediatric neurologist at the hospital told them definitively, “Ellie has epilepsy.”

Ellie’s seizures were treated with Keppra, and it appeared that her seizures were under control for almost two years. However, an overnight EEG revealed that she was still having ongoing seizures while she was sleeping. The Colons tried several medications to address the nighttime seizure activity, but the seizures only intensified and Ellie developed severe rashes as a side effect. The Colons sought a second opinion with a pediatric neurologist who diagnosed Ellie with Doose syndrome and prescribed the modified Atkins diet (MAD) to supplement her medications. Although the diet helped in reducing Ellie’s seizures, the Colons knew it wasn’t a cure for their daughter. Their physician suggested they run the epilepsy genetics panel, which revealed that Ellie had a genetic mutation in the FASN gene that could be causing her epilepsy.

Tony and Irina chose to become involved with CURE Epilepsy to help support research in epilepsy genetics, so families like theirs can get answers. Advancements in genetic testing and the development of databases, such as the Epilepsy Genetics Initiative, have helped researchers learn a great deal more about how a single gene may be associated with multiple forms of epilepsy. Though there are still many unknowns about the role of genetics in epilepsy, these tests and databases can help advance progress toward treatments and, ultimately, a cure.