Ella and and her little sister, Chloe, were diagnosed with Cockayne Syndrome in December 2012. Cockayne Syndrome or CS is a premature ageing syndrome where the DNA can’t repair itself which leads to a shortened life expectancy (average 12) Ella is 6 and Chloe is nearly 5 months old. They also have a brother called Alex who is not affected but may still be a carrier. Ella can’t walk unaided, has few words and learning disabilities, over time she will lose skills as it is a degenerative condition. So far apart from suffering with reflux Chloe is a healthy baby.
Ella has been testing on all her life, blood tests, MRI scans EEGs which have never come back showing what the syndrome was, it wasn’t until we were asked by the geneticist about her sun light sensitivity that she was tested for CS. She has had an operation on her feet to straighten them and is about to be on medication to help with her tremor and drooling unfortunately at this time there is no treatment for the condition. She will most probably lose her hearing and sight as her body shuts down maybe getting diabetes. Her immune system is quite low so she can catch every cold/bug going and unfortunately one day that may be the cause of her death.
Ella loves her babies; takes them everywhere with her, she loves being round people she is very sociable and is so happy all the time everyone comments on her smile wherever we go. She Loves going to school during the week (she goes to a special school Southview in Witham) unfortunately she gets too tired to do any sort of club or activity in the evening so we can be quite limited to what she can do also at the weekends as if we do too much she becomes ill.
Thank you it has been an amazing opportunity to get their photos done at this stage of their lives as we have no idea how long she has left and as yet CS hasn’t taken over her too much so it was so nice to get the pictures done while they are both well and still very haopy thank you so much
My thoughts are with you all, just wish there was something I could do to help you
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