William

My name is William, I am 3years and 6 months old. I live in Leicestershire England.
I live with my mummy and daddy, and my big brother and sister, Jack and Megan.  I was diagnosed with PKS when I was 2 years old. When I was born my symptoms included: dysmorphic features, hypotonia, bi-lateral un-descended testicles, poor feeder, sparse hair, submucosal cleft palate and a bifid uvula, optic nerve hypoplasia, and swallowing problems!

At present my main problems are poor muscle tone, visual and hearing impairment, epilepsy and poor weight gain.
I was nil by mouth for a while when I was born and had a nasogastric tube for feeding. We managed to get rid of the tube following a lot of work with my parents and S.A.L.T; from the age of 7 months I have been fully orally fed which was a huge achievement : )  My weight gain has not been so good lately and I am waiting to go into hospital to have PEG. As long as my swallow remains safe I can still eat during the day and have an overnight feed to top me up. I love chicken korma and chocolate pud so I am very pleased about that !

Over the years I have had a couple of operations. I had a grommet inserted into my left ear ( they couldn’t get one into my right ear as the canal was too small) and I had an op to bring down my testicles. I have a lot of doctors and therapists involved in my care and I also go to a wonderful nursery twice a week which I really enjoy. My favourite things to do is lying on the floor, rolling about and making lots of funny sounds ! I ALSO LOVE LIGHTS so spending time in the sensory room is good fun. I love when people sing to me and read me stories, I join in in my own way!
My muscle tone is low and I am still unable to hold my head up unsupported but I am getting stronger, slowly but surely. My epilepsy is not controlled very well at the minute despite my medication. I may start on the ketogenic diet when I have the peg done. I mainly have myoclonic jerks but recently I have had seizures on waking which make my eyes roll and I go rigid. They last for a couple of minutes and I get very upset by them. My docs are helping me with this.

Mum and dad say I am their little soldier and they love me very much as do all my family and friends. They say my smile makes their day so I give them lots of them and when I laugh everybody laughs with me! I am the only child with special problems within my family and friends and I bring them so much joy and a feeling that is hard to explain. My mum says everyone around me is so glad to have me in their lives and that I bring something special to it.
THAT’S BECAUSE WILLIAM IS SPECIAL XXX

My mum and dad find the PKS Kids website an invaluable source of information and a good support for learning about my condition.