By Matthew, Pallister-Killian syndrome, United Kingdom, February 24, 2021
Hi, I'm Matthew and I was born with the rare chromosome disorder called Pallister-Killian syndrome. This means that I have extra copies of the short arm of the 12th chromosome in some of my cells (PKS is a mosaic, so not present in all cells in the body).
PKS is a spontaneous mutation, this means that it just happens, you don't inherit it from your parents.
I have always needed someone to look after me. I use a wheelchair to get around. I have epilepsy. I do have a tube into my stomach for food and drinks but I also love to eat when I can.
I"m a very happy, relaxed young man (20) who lives away from my family in supported living. I love seeing my family regularly.