Hello, my name is Eleanor but everyone calls me Ellie. I am now 16 years old but you would not think that if you met me. I seemed fine when I was born and my mum and dad were amazed to have a “quiet” baby, as my sister, who is two years older than me, screamed for the first few months of life. Little did they know just what I had in store for them!

 

My dad got a job in Australia and we were due to go when I was about 10 weeks old. We were all looking forward to going and quite excited despite the upheaval. Then in the middle of it all, I decided to throw a spanner in the works and had my first seizure. I was 5 weeks old. Mum and dad had me checked at the local hospital and it soon became obvious that I had to be investigated further. We were sent to Shrewsbury Hospital, where I had been born. Mum and I stayed in hospital and I had to go through lots of tests and investigations. And do you know what? They couldn’t find out what was wrong with me. That’s because CDKL5 was yet to be discovered.

 

We did go to Australia and I just kept on having seizure after seizure and nothing seemed to help. I didn’t progress like other children, never reached any milestones but my parents didn’t give up on me and tried everything to get me to fulfill my potential. We came back to the UK when I was 15 months old. By now I was far behind in my development. I was very floppy, couldn’t sit independently, couldn’t hold a beaker, made no attempt to crawl and had problems with my vision. I didn’t sleep at night, I screamed a lot, and had reflux so my mum constantly smelt of baby vomit. Despite a lot of research, the doctors couldn’t find out what was wrong with me. My seizures were changing all the time and the doctors thought that if they could control my seizures, I might make better progress with my development. But none of that happened despite trying the latest drugs, steroid therapy, the Ketogenic diet and various alternative therapies. In short, mum and dad tried everything whilst trying to give my sister Hannah, some sort of “normal” life.

We were then asked to take part in some research based in Cardiff about girls like me who did not have a diagnosis. But again, I didn’t have the genetic defect they were looking for. By now I was about 10 and parents had resigned themselves to the fact that they might never know why I was like this. There did not seem to be anyone around like me so mum used to say I must have “Ellie’s Syndrome!” Then by chance they heard of a little girl, much younger than me, who was attending the Special Nursery I used to go to and she was just like me. When mum met her dad and they had a chat it turned out that she had a diagnosis of CDKL5. Mum got very excited and was on the case straightaway. It turned out that I had already been tested negative for this, in the Cardiff Research Project. Another dead end!

 

Despite this Mum joined the CDKL5 internet group and was warmly welcomed, even though I didn’t have the diagnosis. Reading other families accounts and experiences was just like reliving my early years. Through this, we heard of other girls who had had negative tests, and some time later were informed that they were positive. It didn’t seem to make much sense. So mum, armed with lots of information, went to my next Neurological appointment and my Consultant agreed to a retest– and yes, I do have CDKL5. It turns out that I have a deletion of Exon 5. Sounds really odd to want to shout about it, but I was nearly 14 years old and seemed to have been lost in the system. Advancements in testing gave my mum and dad an answer. It doesn’t change me, but it provides my parents with answers to some of their questions and allows them to contact other families who are in a similar position to us.

 

So that’s me in a nutshell. I’m 16 now. I still can’t do things that my peers do but that’s life. Mum and dad (and big sister Hannah) try to make sure I don’t miss out too much. I love being outside on my swing, the higher the better! I love my food even though I don’t always keep it down, despite having my tummy operated on. I love being in the hydrotherapy pool at school. I love rough play and being tickled and have an infectious giggle. I am very loud for someone who doesn’t talk, but no one minds really, even if I am yelling the place down. And if they do, then that’s their problem, after all I am a teenager and I can’t let my big sis get all the credit for attitude!

 

So… “keep facing the sun and the shadows of life will fall behind you.” Ellie xxx

Written by: Teresa Ann Newey (Parent)