Emma was diagnosed with global developmental delay at around 18 months old after we noticed she was late with major milestones in her development. At age 2 years old she was also diagnosed with epilepsy. At this point, we were hopeful that her development was just delayed and she would catch up in the future, so we put Emma in mainstream school with a DSP unit attached, which she could access when needed as she entered school with a Statement in place. A few years later we took part in the DDD study and as a result of this, received a diagnosis of Syngap 1 syndrome. We were relieved and happy to receive a proper diagnosis but heartbroken at the same time, as we realised that Emma would have this condition for life. However, now that we had the diagnosis, we could focus on making sure everything was put into place to make sure Emma's needs were being met. She now attends a lovely Special School, has an Educational Health Care Plan in place, receives physiotherapy, speech therapy and has support from the Learning Disability Team.
Emma is a beautiful girl with a great sense of humour. Her epilepsy is mostly under control with medication, but she does still have some absense seizures. Her speech and language is delayed but she is able to speak in phrases and simple sentences. She can read and loves books. However, there is a delay in her processing of language which often makes her frustrated. Her behaviour is challenging, she suffers from anxiety, has melt downs and becomes fixated with things, but she can also be very happy and cheerful. Music makes Emma feel happy and she loves to sing and dance. Emma has hypotonia (poor muscle tone) and particularly struggles with fine and large motor skills, so she to do physiotherapy exercises. She has always been a very determined girl and at age 8 years old rode her bike without stabilizers and joined in trampolining classes, proving to us all that she could perform large motor skills we never thought possible.