The story of Emilia

Emilia is my 5 year old daughter she is what is known as a rainbow baby Emilia was born Happy and healthy few weeks old we found out she had silent reflux and a floppy larynx witch she had to have meds for shortly after Emilia was diagnosed with torticolls hypomobility and hypotonia things were going great with physio and she was doing well then at about 9 to 10 months we noticed some regression she didn’t answer to her name anymore or want to interact with us and she was very delayed while this was happening Emilia started to make loud moaning noises in her sleep so I asked to see a paediatrician when we took her to see when she mentioned Emilia had a large head her head was measured it came of the percentile line so she was sent for mri scan this showed Emilia had chari malformation with fluid and cysts on her brain so she was put under alder hey she went into have a pressure motor fitted and this showed the fluid was high especially when she was sleeping so they decided to perform a ETV operation this went well but she was still very delayed so we went to see community paediatrician the said she possibly had autism in 2020 Emilia took part in a baileys assessment witch the paediatrician did it showed Emilia had a severe learning disabilities her cognitive skill is 6 months old and her gross motor skills are 20 months Emilia walked at 23 months old but can’t walk very farthe paediatrician suggested genetics to be done the first ones came back showing nothing so he put a request into a geneticist in Birmingham we went to see her and she said that she would like to test Emilia for the pten gene it came back that she had me and her dad were tested but we didn’t have it so it was a mutation she is the first in the family to have it in 2022 Emilia was also diagnosed with autism throughout all of this she is a happy content little soul and is worshipped by myself and her daddy she brings so much joy she’s recently started special school in September and is learning to use pecs to communicate with us she enjoys being on her kindle swimming and one her swing