Sofia was diagnosed with a SYNGAP11 mutation at the age of 10. She is an amazing young girl who has a heart of gold and could not be a more loving person. Sofia is kind and caring, laid back and has an amazing sense of humor. She really enjoys watching movies, going shopping and dining in her favorite restaurants. Sofia is very feminine and is keen to make sure she dresses nice and looks cute. She deals every day with many difficulties due to her limited cognition, decreased motor skills and challenging behaviors. Despite all this however, she manages to stay very happy. She is our hero. Therapy has always been very helpful for her. In particular, ABA therapy has been very important in helping her by focusing on her most significant challenge, her behavior. Deep down inside we know that Sofia wants to help heal that brain of hers so that she would be able to have more clear thoughts and process things clearly. This would help her more easily connect with people and the world around her.
We realize that the only hope in finding appropriate treatments and a potential cure is through more significant and much-needed research in Syngap. Increased public awareness and education will be important in bringing more attention to this critical illness.