Pietro will turn 7 years old on 03/27. He was born on 03/27/2019. I had a smooth pregnancy, and he was born at 41 weeks via normal delivery. He is developing very well, he was breastfeeding, laughed a lot, ate well, and liked to communicate. When he was 9 months old, we noticed that something was wrong—he couldn’t sit, he would hit his head on the wall and hit himself. That’s when I took him to the pediatrician, and she said that there really was something unusual with him. Immediately, she referred us to a specialized institution for children, and that’s when everything started. He had a brain MRI, and the doctor reported that he had malformations in the brain and possible TUBB3. From that point on, we have been through neurologists, physiatrists, psychiatrists, and geneticists. We did several tests and discovered that he indeed has TUBB3 Variant c.613G>A (p.Glu205Lys). From then on, we have been taking one day at a time without knowing much... This is our story. This is our little Pietro
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