Zoe Carroll shares her story, from diagnosis to family life now.
"We received Charlie's diagnosis on his second birthday. The world shifted, and we feared life would never be the same again.
I’d felt something was different about him from a few hours after he was born. He was an unhappy and difficult baby and it was very difficult to bond with him; there were days when I felt completely overwhelmed by his near constant crying and his lack of interest in anything we showed him.
I argued with midwives, health visitors and doctors to have him referred to someone who could give us answers. I refused to accept their advice to watch and wait and I was getting fed up with being told that my son was a late bloomer and to stop comparing him to my daughter.
One paediatrician told us that it was probably a lactose intolerance and we tried a restricted diet for a while with no benefit; he was still always unhappy and full of mucus. A second specialist thought that Charlie might be deaf and a grommet operation was performed.
Meanwhile, I had an appointment with our health visitor and Charlie was in a particularly difficult mood. Instead of trying to calm him I let him lie on the floor screaming his blood curdling scream and kicking her legs and the table, banging his head on the floor and flailing his arms. She looked on in horror as I did nothing apart from look exhausted. ‘He does that almost all of the time’, I told her, 'every moment that he isn’t being carried around, he cries’. She referred me immediately to the lead developmental paediatrician in our area.
It was this third paediatrician who ordered a range of tests from blood and urine samples, but we were sure at this point that the hearing operation would make all the difference and, once he could hear, our grumpy and difficult baby would be happier and content. It was scheduled for eight days before his 2nd birthday.
The fragile X diagnosis shook our world and the outcome painted by the paediatrician was bleak. She told us that despite sending off hundreds of tests for fragile X syndrome, Charlie’s was the first one she’d ever had back positive. We were quite gobsmacked when she told us she was ‘excited’ about his diagnosis and had to tell her that ‘excited’ wasn’t quite where we were at that moment.
She referred him for every test and service that he could possibly need to check his vision, his feet and gait, help him with speech and language and occupational therapy. She even used our case study to help train GPs about fragile X and what to look out for; for all of her failings in sensitivity she did do her best to educate others about the condition, filming his gait and speech to make training aids for new doctors.
While Charlie’s health needs were taken care where we lived then, his education was a different story. Charlie’s team fought to get him a Statement of Educational Needs that would meet his needs and ensure he received the support that he required. It was acknowledged that he needed to attend a special school, but despite all that the county couldn’t find him a place. We were told that he would have to attend a mainstream school with support.
The mainstream school was where our daughter went, and they knew Charlie from causing havoc in the playground and at every assembly we went to. The head teacher, a lovely lady who patiently spoke to me while Charlie poured all of her desk stationary down the back of a radiator and emptied my handbag all over the floor of her office, explained that despite all the will in the world, she couldn’t meet his needs within the school and joined our team to get Charlie into the school he needed. We were even in the local papers and writing to MPs to try to get somewhere.
On a chance visit to some friends of ours near the coast, I visited a local special school and asked what would happen if we moved there and was told that, if it was deemed to be the right school for him, he would get a place. On the strength of that conversation and with no knowledge of the area at all we put our house on the market; I quit my job and moved our family just in time for Charlie to start school last September. I had to fight to get our daughter into school there and find a new job, which was stressful, but the move to the coast has been the best thing we could ever have done as a family.
Both of our children are thriving and people can’t believe how well Charlie is doing at his school. He is calmer and more focussed and his speech is coming on at a fantastic rate. Everyone who meets him loves him and we are becoming fully established in our community here. Don’t get me wrong; it’s not all roses and we certainly still have many challenges every day, but on the whole our family is happy.
Fragile X felt like a sentence when we received our diagnosis, but without it we wouldn’t be a part of the wonderful international fragile X community that exists online and through the Society.
I would not have left my high stress career for a teaching job with only a seven minute commute from home, and we wouldn’t have just spent Mother’s day walking along the pebbly beach meeting friends and throwing stones.
Life is better than it ever would have been if we hadn’t been thrown this curve ball, but if we were going to have any disorder in our family, I’m glad it’s Fragile X!"
Thank you to Zoe for sharing her story.