Our beautiful daughter Emily was born in November 2015. She weighed 7lb 2oz and appeared the picture of health. Sadly we quickly noticed that she wasn't behaving like other babies her age. A social smile was the first and only milestone that she met, at 5 weeks old. She didn't reach out to play with toys, couldn't roll and didn't seem to be able to sit up or support her own head. Despite this she was the happiest little girl.
Emily reached 7 months old and couldn't seem to swallow food, she was referred to a paediatrician who said that Emily needed an MRI scan of her brain. Whilst waiting for this Emily started to have episodes where she would stop breathing, vomit and then have a big seizure. Her MRI was rushed forward however, it showed a normal healthy brain. She was referred to a specialist neurologist who was also unsure what was wrong with our gorgeous girl.
After months of appointments, fights with health professionals to listen to us, hospital admissions and tests she was diagnosed with the severe life limiting neurological condition Rett Syndrome in April 2017.
Emily has the development skills of a 3-6 month old baby, and has deteriorated massively since diagnosis. She is now fed through a tube into her stomach and is waiting for more surgery. Her spine is beginning to curve and she has daily pain relief for bone pain. In June this year we thought we were going to lose her as she developed sepsis. Our fighter pulled through thanks to the amazing care she received from the hospital. She still smiles through everything and is our ray of sunshine.