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Agata was born on 03.11.2018. First seizures started at eight months old. In april 2020 Whole Exome Sequencing revealed a de novo mutation within GABRB2 gene. It results in epileptic seizures and developmental delay. Agata made her first steps at the age of three, and learned Her first, and so far the only word just after Her fourth birthday (the word is "hello", but She needs a phone in Her hand, and a mirror in front of Her to say it.

She still struggles with Her balance, many sensory disorders, low muscle tone, and can't copy movements or gestures. She is a happy, energetic child, always looking for someone to pinch, and read books with - one of Her favourite things to do is turning pages! Another one is listening to music, and, better yet, playing it. She plays ukulele, guitars, piano, drums, harmonica - You name it!

About a hundred myoclonic seizures a day, mostly focused around the eyes, was reduced to around twenty, when a ketogenic diet was introduced in early 2020. Diet also helped us reduce Her medication, we are now down to just two. Agata's photosensitivity seems to be increasing with age, first it was only flickering lights, but now the indirect sunlight on a clear day is enough to trigger seizures. On Her trips to doctors offices and hospitals She regularly meets neurologists, hematologists, gastroenterologists, clinical dietitians, optometrists and geneticists. She is also on the first name basis with many excellent logopedists and physiotherapists.


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