Steven was born at 40 +11 after being induced and we were moments away from a c-section, before forceps finally managed to manipulate him into the right position as he had presented looking to the side rather than up or down!
At the 20 week scan they noted that his head was very large and needed further scans as they couldn't get the measurements properly. At the follow-up they couldn't see the heart properly so we had to have a further fetal cardiac scan but the scans all suggested everything was ok other than the larger than typical head.
At birth his head was 98th centile and the rest of the measurements around the 9th. The paediatrician said he looked just like his dad, including the corners on his head!
It took several weeks/months to be referred to physio and paediatric services for the diagnosis journey to start. Neurology concluded it was macrocephaly and not hydrocephalus and discharged him and the community paediatric team have continued to investigate. They've found chromosome deletions that led to a diagnosis of Gorlin Syndrome (but a new variant, with routine brain MRI scans due to high risk of brain tumours). None of this explains his inability to walk. I've lost count of the CT and MRI scans he has had to have (under sedation) on various parts of his head and body! He uses a wheelchair and is now slowly gaining confidence with his full body support walking frame - a Mustang with a seat on it for him to perch on.
Steven also remains in nappies and that's something that's unexplained as well but the medical team don't seem bothered so that's a battle for another time!
We are currently waiting on a further genetics appointment as the paediatrician is asking for further advice and support!
He has started mainstream reception this school year and loves the time with others at school but struggles with his peer group as they run and charge around. He prefers the older girls who like to 'mother' him, he loves the attention! His blonde hair, blue eyes and smile certainly gets him attention and the fact that he wants to talk to everyone and expects them to talk to him soon wins most people over! He doesn't let anything phase him and doesn't see himself as different, but he is desperate to walk and simply can't!
He is a very happy young man most of the time and loves spending time with people! We've been taking him to a drama club as he loves singing and his version of dancing and the group is great as they let him sit on stage and do as much as he can. We look forward to seeing him perform Rudolph and silent night with the group in a couple of weeks!
We have no idea if or when he may start to walk or become aware of his bowel movements etc. but he is improving and that's all that matters!