By Stephanie Wood
Emilia is our first and only child. When Emilia was born everyone commented on how alert she was, how happy she was, how she was such an ‘easy’ baby. She hardly ever cried, she mainly slept well and was a very smiley baby. However, I found motherhood anything but easy; I was in the throws of PND and anxiety but I doubt anyone who wasn’t close to me could tell.
When Emilia was about 8-10 months old, my depression seemed to deepen and I just couldn’t figure out why. I look back now and can’t believe I didn’t see the reasons why I felt so down. Emilia became really difficult to bottle feed; she would refuse feeds, refuse to suck on the bottle and scream because she was so hungry. I dreaded every feed. Weaning was also really challenging. Emilia just didn’t seem to know how to chew and would swallow even pureed food and then gag or choke and vomit it back up. The whole time I was thinking, ‘what am I doing wrong?’
At this time, although it wasn’t my main concern (but probably should
Emilia loved nursery and still does. It was a couple of weeks after we
We contacted our health visitor who was amazing and got us an emergency appointment with the GP, who in turn got us an appointment with a Paediatrician for a month later. A diagnosis of Global Developmental Delay followed.
Everything then just spiralled and, to be honest, is a bit of a blur. With all that I had been already feeling and then Emilia’s regression, I mentally collapsed. I remember breaking down and selfishly saying to Al, my husband. ‘Do you have any idea, what it will be like to have a mentally and physically disabled child? Our lives are over, what’s the point?’ How wrong was I, but you don’t think clearly when something like this happens to you. You just go through the motions and survival instinct kicks in. As we had no diagnosis, I constantly battled with my mind, one minute accepting that there was something wrong with Emilia’s development and the next challenging everything the professionals had said to us thus far and trying to diagnose Emilia with less serious issues, even baby depression. I wondered if my depression had somehow rubbed off on her. Ridiculous, I know. I googled and googled
It was during my Google searching during Emilia’s regression that I came across Rett Syndrome. I read through all the early symptoms and ticked them off one by one in my head. I called my Mum and asked if she had heard of it. She said that she had found Rett in her searching too. Then we were both quiet and nothing more was said about Rett for a while but it sat in the back of my head until genetic testing and diagnosis almost a year later.
Although Rett S
We went on a family holiday to Florida in December 2018. It was during this holiday that Emilia started to come back to us. She started to smile again, laugh and even
From then, through diagnosis until now she has made steady progress. Her hand use has gotten worse and she still struggles with mobility. Emilia is still unable to transition between lying down to sitting and sitting to crawling or standing. She is able to hold positions and take steps with assistance. She can say ‘hiya’, ‘yes’, ‘ma’ and ‘da’ and has an Eye Gaze computer to help her communicate. Emilia has even started to learn colours on her Eye Gaze. Her favourite colour is blue.
Looking back at her regression and how I felt at the time, I don’t blame myself for any of those emotions. I just wish I knew then that our lives were not over. Our lives are just different and like I had done many times in my life before Emilia, I adjusted to that to that change. We do our very best by Emilia and fight for her every day. We go to all different kinds of therapies which she enjoys. We do not know what the future holds but we take each day as it comes and get on with our new normal. We have found strength in ourselves and each other that we didn’t even know existed.
After diagnosis, we found Reverse Rett and, for the first time in a year, we had something I thought was lost; we had hope. To know that there is a possible cure that could become available to our girl and other