A Life Less Ordinary

by Louise Wainwright

I think back to my early twenties, the days of living life to the full alongside friends and family, nights out, holidays and the dream of meeting someone special who one day I will marry, have the 2.4 children and be an average family.

Fast forward to 2010, I am preparing to get married to a wonderful man and thoughts of children already being discussed. We already know having children may not be straight forward as I have PCOS and had been referred to a fertility consultant. We had a wonderful wedding day, honeymoon and were looking forward to our lives together ahead of us. All thoughts of conceiving a baby are put to the back of our minds as we know we have an appointment in a few months. Low and behold two months after getting married we discover I am in fact pregnant.

Pregnancy goes well and I love every second of it. The nursery is all ready just waiting for the arrival of our bundle of joy. With one month to go the baby had other ideas of waiting and our beautiful Georgia was born. She was taken to NICU and had to be ventilated due to some early breathing issues, but she was a beautiful 6lb9oz bundle. She stayed in hospital for 10 days and was discharged with a clean bill of health. Now to enjoy parenthood.

I went along to the local Mums and babies group and made friends with other first-time mums. Every week we would go and there was the usual talk of ‘so and so has started doing this’ and ‘another one had started doing that’, but Georgia was always behind everyone else (other than in putting on weight, the girl loved her milk). When raising concerns with the health visitor I was always reassured it’s because she was a month early, she will catch up.

Georgia did start to roll, sit, crawl, eat finger food but always later than expected. By 18 months she was still not pulling to stand and I knew this was not just being a month early. She also had very little speech beyond mama, and baby babble. In the meantime, we had had a second daughter Phoebe. We were referred to orthopaedics who discovered Georgia had slight subluxation in one hip and this was then attributed to her not wanting to stand. She also had an MRI scan which came back clear. As her speech seemed delayed, we also went through endless hearing tests and she was diagnosed with glue ear, grommets were fitted just before she turned 2. We were thinking this will be it, she will start talking. Speech still didn’t come. Again, we were being told it may be because she was premature, but you have this parental instinct that you just know there is more to it.

My husband went to the hospital and spoke to the neo-natal consultant who looked after Georgia when she was born and asked if we could see him. He sat and went through all the notes and although Georgia had to be ventilated her birth was quick and uncomplicated and she was ventilated more as a precaution, he felt there was nothing from her birth which could be causing her delays. By this time, she had been put under the umbrella of ‘Global Developmental Delay’ by community paediatrics. The neonatal consultant wrote to them and suggested genetic testing, not for Rett Syndrome but Angelman Syndrome. This came back clear, so genetics then ran the micro-array and 3 months before Georgia’s 4th birthday we got her diagnosis of Rett Syndrome.

Bang. There it was hitting you like a sledge hammer, the dream you had of an average family shattered into pieces. I was fortunate enough to have heard of Rett Syndrome as an old colleague has a daughter who was diagnosed at the age of 3.

It took about a year to fully come to terms with the diagnosis, what life had thrown our way, the loss of the expectation of what being a parent was going to be. Watching friends’ children grow and develop, starting school and all the excitement which goes with it. Not having family holidays where the kids are playing together running around jumping in and out of pools in the sunshine. Having to watch other families, especially in the current world of social media, having what is perceived as a ‘normal’ family life is hard and you do on the days of feeling down think ‘why us’. Whilst all the time worrying about Georgia’s future: are things going to continue to change/deteriorate for her. Trying our hardest to provide the best life we possibly can whilst doing the same for our other children.

We had another blow when Phoebe was showing signs of developmental delay, but genetics ruled out Rett Syndrome. We have only recently found out she also has a de novo genetic disorder Lis 1 which is totally unrelated to Rett Syndrome. For Georgia though, Reverse Rett have given us the hope one day she will be cured, but there is also the fear of will not happen quick enough. Seeing friends who we have met through our children having Rett Syndrome lose their precious child is utterly heart breaking. Trying to keep Georgia healthy is a main priority but with frequent seizures, worries about her spine, it feels like the clock is ticking.

Although we have a life less ordinary, we have a life and so do our children. Would we change Georgia if we could? Certainly, we love her as she is there is no doubt about it, but we would do anything to release her from the clutches of Rett Syndrome and give her the opportunity of a life she deserves.