Eva's seizures began immediately after birth, on the 5th day of life. At that time, doctors considered them to be neonatal convulsions against the background of an infection. However, at just 3 months old, the little girl experienced her first focal seizure with staring and upward eye rolling. EEG monitoring showed high epileptic activity in the brain, after which the diagnosis of 'focal epilepsy of unknown etiology' was made.
Eva is now 1.5 years old. Recently, she started sitting up on her own, but she cannot crawl, stand, or walk, and she does not babble. Eva and her mother lead an active lifestyle: they walk in parks, attend physical therapy classes, and go to infant swimming sessions. The little girl also enjoys traveling by transport: she watches the road and observes everything around her.
Eva is very stubborn and determined. Despite the fact that it is very difficult for her due to weak muscles, she keeps trying again and again to get on all fours, sit up, and crawl.
Doctors suspect a genetic nature of the epilepsy and recommend exome sequencing to select therapy and consider more extensive rehabilitation. It is very important to do this now so that Eva has a chance to live without seizures and catch up with her peers in development.
