Our journey with Rett UK by Sue, mum to Amy who is 30 this year.

‘While I’m sitting at the computer, my daughter Amy is relaxing, watching a Postman Pat DVD.  She’ll be 30 this year, and although Rett Syndrome has taken so much from her, we’re so proud of what she has achieved.  She can stand and walk with help and with her eyes, smiles and giggles manages to communicate exactly what she wants!!  She lives at home with us and we love her to pieces.

She was diagnosed with Rett Syndrome three days before her third birthday, when I was 5 months pregnant with my second child.  We’d actually heard of the condition a few months earlier when we saw a short information film on the TV which showed some little girls sitting on the floor, rocking and wringing their hands.  The narrator explained that they all had Rett Syndrome and that they’d all lost previously acquired skills.  At the time, Amy had been diagnosed with Global Development Delay so we actually said to each other how lucky we were that Amy didn’t have Rett!  We’d had genetic counselling after Amy’s GDD diagnosis and decided to try for another child.

Amy was diagnosed on 16^th June 1988.  Pete’s sister called Yvonne Milne at the UK Rett Syndrome Association (as it was called then) and  we were sent an information pack about what was likely to happen to our little girl.  Reading the stark facts in black and white filled us with terror.  How would we cope? In the dark ages of 1988, there were no mobile phones, no computers or internet, so it wasn’t easy getting answers to our endless questions or getting information about what we were facing but thank god we had someone at the end of a phone to talk to who truly understood.

Most GPs and consultants had never heard of Rett Syndrome. The grief was simply overwhelming.  We felt as if we’d lost our beautiful Amy and had a different little girl in her place. It was such a devastating diagnosis – we felt so totally and utterly alone. We had wonderful support from friends and family, but they were heartbroken too so we felt we had to be strong for them.

Our lovely son Sam was born in November – YAY!! – and we then set about fundraising and got to know people from the Rett Syndrome Association.  It was a small family run charity at the time – it has grown so much over the years! We went to our first Family Weekend in 1989 and felt instantly at home.  It was such a relief to talk to other parents – they instinctively knew how we felt and were able to give us lots of advice.  We all cried – and laughed – together and I think that’s the best thing about being part of the Rett family. I got involved with the Rett Syndrome Association Management Committee and our aim was to raise awareness of the condition and find the ‘lost girls’.  I felt that I was doing something worthwhile and made so many good friends.

People like Yvonne Milne, Janet Best and Alan and Christine Piper were the heart of the Association at the time and they took me under their wing.  I no longer felt alone or isolated and I knew I could ask them anything. Now at the touch of a button we can access the information we need – and I’m so glad that new parents now have so much support at their fingertips.