Tell us about yourself and the patient in your life:
Hello my name is Gill, my 16 year daughter Grace is very happy and has diagnosis of SMC1A de nova mutation. Grace is no verbal, visually impaired, gastronomy fed, unable to sit unsupported and a wheelchair user. Grace has been on the ketogenic diet for 10 years and has recently had a VNS fitted. Grace is on 3 anti-convulsents. Grace is adored by everyone and is delight to be with. We enjoy shopping and going for coffee and cake with family and friends.
What is your hope for the future for your loved one:
I hope for Grace’s communication skills to continue to improve using switches and an eye gazer so she can make choices for herself. I also want a smooth transition from childrens services to Adult services. Especially the hospital. I want Grace to enjoy her life .