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 favorite 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.