After the birth of my two sons one who was healthy and one with a degenerative condition we had Emily. Through out pregnancy I was given lots of scans to check all was ok and no problems were noted. Emily was delivered at 39 weeks via csection. And had no problems. Just over a month of age we were told shed failed her hearing test (obviously having her older brother with an I diagnosed condition with deafness this shocked us to the core) by four months she was not smiling making eye contact or able to support her head. We had to face the horrific reality that Emily had the sane condition as her brother. She went through so many tests, Mri's which show like her brother her white matter was also deleting and becoming less, she had blood tests, lumbar punctures and lots of other invasive test done and nothing has been diagnosed. On paper they have the same co distil . Emily's dystonia is more sever than Adams, she has frequent through our the day strong spasms. These have caused her problems and both her hips are dislocated, she has also recently been diagnosed with deterating scoliosis her curve when braced is now over 45'
Every day is a struggle for Emily even with her cochlea implant she still needs contact to reassure her, being deaf blind has made her very unsure and without reassurance it triggers her dystonia spasms causing her distress. When in the company of people that she really knows well she is content and loves to be moved to music, like cooking and sensory games. She is a beautiful little girl who despite everything can still manage to smile.