Steven L's quilt (Quilt Coming Soon)
|Illness:|| Benign Macrocephaly, Hypermobility, hypertonia, Gorlin Syndrome, Physical Development Delay
Theme: Disney Characters
Quilt will open soon, keep checking back!
Disney Characters - All characters...Cars, Frozen and Princesses are favourites
Disney is his huge passion/obsession...the character or film favourite changes regularly but include cars and frozen! (Princesses are loved!!) But also PJ masks and puppy dog pals from disney and Thomas the tank ... and books as these aren't a toy you need to be able to stand and walk for!
As said he loves reading and also animals! We have a dog called Bear and a tortoise called Terrance and he loves cats and monkeys too!
Music is also loved ... especially 80s music with Africa, Take on me, Kind of Magic, Sweet child of mine all favourites! We have to listen to absolute 80s all the time!
No favourite colour as such ... he changes his mind and to be honest I something he understands the concept of favourite!
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 then at the follow up they couldn't see the heart properly so we had to have a further feral 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 lead to diagnosis of Gorlin Syndrome (but a new variant, but means routine brain mri scans due to high risk of brain tumours) but none of this explains his inability to walk. Ive 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 thats 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 in 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 and 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 expect a 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!