Hi. My Name Is Emma (14 Years Old)

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.