Hi, I’m Andrea. I was diagnosed as having Noonan Syndrome in the late 1980s when I was 16 years old. I had been identified as having a pulmonary valve stenosis as a tiny baby. This was corrected with surgery in 1977 and the valve was ultimately replaced in 2008. There are a number of other structural anomalies in my heart but, to date, they have always been fairly mild.
There were other early indicators of Noonan Syndrome, including symptoms of reflux, short stature, constantly sporting bruises and various aspects of specific learning difficulties. I don’t think I had behavioural difficulties as such, but I have always been notoriously emotional, to the extent that, once I started wearing make-up, I wore waterproof mascara because I would cry daily as an expression of almost any emotion!
I had always felt a little bit different and would often question why I was like I was, but it wasn’t until my Mum mentioned my short stature in a Cardiology appointment that we began to find out why. To date, the pathological variant that has caused my form of Noonan Syndrome has not been identified. However, I’m hoping that it will be very soon.
Getting to grips with the diagnosis as a teen was quite difficult, especially since it came in the midst of my GCSE exams. It was very tricky for me to find out much information at the time as this was in the days before a freely available internet. Hats off to my parents is all I can say because, as I’ve already mentioned, I’m quite emotional.
Despite finding school tricky, I have always had a geeky spirit and as such have studied to my heart’s content , gaining both a Bachelor of Education and a Master’s Degree in Autism and Education. I have been teaching children who have Special Educational Needs for more than two decades and consider myself lucky to have a career, colleagues and pupils that I love.
Myself and my husband Martin are the proud parents of 2 girls, one sane and one insane. I blame and thank Martin in turn for both. We are currently waiting on the results of my genetic tests to rule Noonan Syndrome in or out in their cases. Either way they will remain sane and insane respectively.