I am the father of Mark, who was born in 1986. Early on in his life Mark was diagnosed with Noonan Syndrome (NS) – at that time diagnosis was made by looking at physical features – the gene or as it turned out the genes responsible for NS were unknown. Later in his life (in his 20’s) Mark’s genetic change was found to be in the BRAF gene and his condition was said to be on the cusp between NS and Cardiofaciocutaneous Syndrome (CFC) another of the Rasopathies.
Mark lived a full life becoming as independent as possible and with a joy in everything he did. He was at the severe end of NS/CFC and sadly passed in April 2019. He made a huge impact on everyone he met and is much missed by his family and friends.
I first became involved in the original NS charity in 1983 initially as Treasurer for 8 years and have been involved now for 35 years. More recently, I had the privilege of chairing the board of Noonan Syndrome Association from its inception in 2011, handing over to Katie Ballard on 1 January 2021. As well as supporting the board generally, my attention is now focused on the Medical Advisory Group in the UK and on new research into NS both in the UK and internationally which will benefit future families.