It wasn’t until Katie was two years old that she was diagnosed with Noonan Syndrome. We went to St. Georges Hospital and Katie was clinically diagnosed with the condition, and I went on a mission to learn all I could about Noonan Syndrome. I needed to find the best care for my baby and to meet other families that were going through the same things.

When Katie started nursery it was very difficult. She had social and attention problems and her co-ordination and spatial awareness was really poor. She would fall over all the time and I had to watch her constantly.

Life has started to settle down now and Katie attends mainstream school. She has had two balloon dilations now and will most probably need a new pulmonary valve in the future, but her medical needs are less than they used to be. We are still trying to manage the behaviour and social side of Noonans and Katie is diagnosed with high functioning autism, although I really think it is more ADHD. Nevertheless, she is bright and friendly and charms everyone she meets!

I have met so many friends via Facebook and the Noonan Syndrome Association now, the pinnacle of this was a family meeting I held at my home with other families affected by Noonans. It was great to see the adults chatting and the children having a lovely time, and together we can all look forward to a bright future for ourselves and for our children. With help from Noonan Syndrome Association, we hope that all families affected by Noonan Syndrome can too.