Stella was born 4 days after the due date, healthy with no complications. She was crying a lot as a newborn. When she was about 5 months old, we recognized her development was slow. We reached out to the physiotherapist. When she was about 8 months old, they started the investigation. On MRI they could see differences in the brain. At 13 months old we got the genetic results, and the answer was TUBB3 mutation, with one more found on the same TUBB3-code (June 2022) TUBB3: c.473C>T, p. (Ser158Leu. Stella is a happy girl always smiling! At 3 years old Stella started to walk after attending intensive training for 10 months and now - she has started to run! Every day she worked hard to make this big step in her development! In April 2024 - 3,5 years old she got her first seizure, a GTK seizure in 25 minutes results she started with medicine straight away. Stella has been free from GTK seizures after starting medicine. Every day Stella is working hard to develop her physicality, language and understanding. She started to speak a few words around 2 years old, and right now she is quite good at verbal speaking. Stella made our life so much more! We are so happy to see her fighting and making small steps faster than we expected!
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