At my 20 week scan it was first noticed there was something not right within the brain, however by 24 weeks I was told everything was OK and they saw the missing stems. Hugh was born at 34 weeks due to my placenta failing and breaking away. When Hugh was 1 yr old and wasn't making eye contact, sitting up, or making any other milestones, I was finally listened to and the investigation started. After a brain scan when he was around 2 yrs old we were told in fact he did have parts of his brain missing and soon after we got the diagnosis of TUBB3. Hugh also has visual delay and is colour blind, Hugh started to crawl at the age of 2 then started walking just shortly after his 3rd birthday but now nearly 5 he's still very unsteady and does fall a lot and very wobbly, he's a very determined little boy though. Hugh’s diagnoses are: *TUBB3 - Cortical dysplasia *Delayed vision - Congenital fibrosis of the extraocular muscles (CFEOM) *Postural scoliosis *Ptyalism *Global development delay We are under assessment for Autism too , Hugh is still in Nappies but has just started to ask to try the toilet when he's seen family and friends use it.
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