I’m Laura, an NHS doctor, and mum to 6 year old Freddie. I found myself catapulted into the world of rare genetic disorders when my son was born and surprised us all with his extremely rare microdeletion syndrome. I was in a very lonely place – consultant geneticists couldn’t tell me what the future would hold for my son, and I had no one in my social network who had experienced anything similar. I spent hours doing my own research and trying to come to terms with it all. Finding other families that have been through the same has been invaluable for support – being able to chat to others who just ‘get it’.

We have been so fortunate to have received support from The Sandcastle Trust over the past few years – a short family break away to escape the stresses of daily life, and Christmas events that lit my son’s face up with joy.

I decided that I wanted to give my time and energy back to a community that offers incredible support to families. As someone who has lived experience of rare genetic condition within our family, I am keen to use my experience for good. I am so excited about the plans and vision of The Sandcastle Trust, and cannot wait to join them as a trustee.