Sweet Antonia from Poland

Poland, February 2021 by Patrycja (mother of Antonia)

Antonia was born as a premature baby on December 8, 2013. Immediately after giving birth, in the hospital, she fell ill with sepsis and the onset of meningitis. Antonia's psychomotor development is very delayed. Antonia is 7 years old. She doesn't walk yet, doesn't speak, doesn't communicate in any way. She hasn't had an EEG yet, but we're scheduled for this in April. Antonia sleeps peacefully all night, there are no daytime seizures or suspicious seizures. Antonia has very good eye contact, focuses on the activity she is doing, so the doctors did not suspect that she had autism, although she has stereotypical movements that are a feature of autism.

At the age of 3, Antonia was diagnosed with a large cyst in the brain, 2 cm x 7 cm, but after many neurosurgical consultations, the cyst was not recommended to be used because it was not a clear delay in our daughter's development. After many metabolic and genetic tests, the WES study clearly gave us the diagnosis TBR1 mutation.