Sebastiana is not yet 24-hours old when she is admitted to the Rady Children’s Hospital neonatal intensive care unit. She’s unable to eat due to seizures and is rapidly failing. She is two days old when whole genome sequencing is ordered.
WGS reveals a novel mutation in the KCNQ2 gene. She is the youngest child to be diagnosed with this. The information allows the neurologist to tailor her treatment to stop her seizures and put her on the road to recovery.
No longer seizing following the change in medication, Sebastiana is finally able to eat and gain strength. Two weeks later, her happy grandmother cradles her as she prepares to leave the hospital.
Sebastiana will be five this year and continues to be seizure free. She is an active, inquisitive girl enjoying childhood, books and playing with her older brothers.