Hi, my name is Sarah and I’m seven years old. I was born in 2007 with a suspected rare genetic disorder, and for the first 48 hours I seemed like most other babies. But then I shut down: I couldn’t stay warm, I was ‘sleeping’ 23 hours a day, I struggled to move and I would intermittently stop breathing.
That was the beginning of many tests and my family’s life of medical appointments, hospital admissions, operations, medications and stress. I cannot walk or crawl or sit myself up. I have severe seizures that can leave me tired, weak and very upset. I have a wheelchair that my mum, dad and carers use to help me get around. I love food but I can’t feed myself and my food is still puréed. I don’t speak but I laugh, giggle and squeal.
My favourite colour is pink. I love pretty clothes, sparkly jewels and teddy bears. Today I am a school girl and I love being at school.
I am different from others in my class but they are all very kind to me and make me laugh.
Several years ago my parents and our local community fundraised the money to have Whole Exome testing completed. It gave my doctors a handful of genes that could be the cause of my underlying condition. The doctors started to research these genes. Last September, my neurologist called to tell my mum and dad that they had found a gene responsible for my condition. It is a gene called PURA. Doctors worldwide know very little about this gene. We are hopeful that over time, research will provide more information about what this gene does, why it is causing my problems and then maybe they will find a way to make my life better.
There is always hope.