Emma’s story

Following genetic testing, Emma was diagnosed in Glasgow children's hospital with stxbp1 in March 2018 when she was 17 months old after being admitted with seizures. Emma has an older brother who is 17 and a sister who is 15. None of them show symptoms of this condition, but haven't been tested.
Emma loves mirrors, dancing to music, and although she is non-verbal (no words at all, just lots of noise) she loves to try to sing along to her favourite songs. She has been given a functioning mental age of 12-18months. Emma loves her brother and her sister and her family share that “she is our world!”