Alfie was born 8 days late on 27/08/09 by emergency c-section. He was very blue and purple when he came out but was fine in himself. He wasn't reaching his milestones like other children his age and was struggling to eat solid foods as he would choke on it. I kept taking him to the doctors but they just said he was being lazy as he was my second child. We went backwards and forwards to hospital with Alfie and numerous consultants, blood test, MRI scans and still no one knew what was wrong with Alfie. All we kept being told was he had global development delay and very low muscle tone. Alfie couldn't communicate with us at all and he was getting frustrated as we couldn't understand what he was trying to say. We started to send Alfie to mainstream nursery but unfortunately he just couldn't cope with it all. He then started to go to a special needs centre and felt a lot more comfortable being there. Once he was 3 he started to attend nursery at Southview school where he still attends now. Alfie has trouble with his sleeping and takes medication to help him sleep. On 3rd December 2014 we found out that Alfie has Pitt-Hopkins syndrome. We couldn't take it all in to start with and found it very difficult to tell people what was wrong with him as we didn't know anything about it ourselves. Alfie is now 8 and has come along so well. He still can't communicate that well but can say a few words like mumma, nana ,dad, more, juice, and oh man. He started to takes steps on his own when he was 5. He is doing so well with his walking now there is no stopping him. He is understanding instructions now and is such a cheeky monster. He lights up the room when he comes in and always makes people smile. We have met some lovely people since we have had Alfie's diagnosis and it is so nice to talk with other families who understand what we are dealing with day to day. Alfie loves Mr Tumble and Fireman Sam (both are constantly on our TV). He loves music and colour changing objects.
Vicki, Nigel, Callum, Alfie and Gaby.
Witham. Essex UK
