Sara was diagnosed with Syngap1 in January 2019 from the Meyer Hospital in Florence. Before her Syngap diagnosis she was given the diagnosis of global developmental delay. We discovered Sara’s epilepsy when she was 7, she has eyelid myoclonia now under control with Depakin. Sara has medium-severe cognitive delays, light sleep disturbances (she takes Melatonin), behavioral problem, and "clumsy" and uncoordinated movements, especially in fine motor skills.
Sara has a 12-year-old brother named Matteo, whom she adores, he is the only one who can make her play the way she likes. Sara is a cheerful and very happy child, she loves cuddles especially those of her father and loves physical contact. She goes to school, loves being with her friends and looks for them often, she is very communicative and sociable. Sara is able to communicate with are 3-4 word sentences and it is a great success for her.
Sara loves being active and especially loves swimming. She water and the sea very much and is good at going underwater with goggles. Sara enjoys riding her scooter whenever she can. Sara loves animals, especially dogs. She does hippotherapy with her horse Adamisio. Sara loves books, puzzles, music, and similar to most, her tablet, and TV.
Sara is a very determined child and does not give up easily. Unfortunately, she often has fits of anger, especially because she does not accept the rules and the word “no”. Then the frustration is unleashed in her that she vents with aggressive-oppositional behavior, pulls her hair, scratches, sometimes she bites, throws or throws things on the ground (chairs, bags, markers, books, etc.).
It is difficult and very demanding to live with a child with SYNGAP1. Everyday, every moment puts a strain on your patience. But Sara tries hard to learn and make progress because she is a little warrior. Everyday she amazes us with what she can do, and for us parents they are great achievements. We love her immensely as she is, she couldn't be more "perfect".