Ellie's Story .....  

Hello, my name is Eleanor but everyone calls me Ellie. Although I am now grown up you wouldn’t 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 have 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 needed more investigations and so we were sent to Shrewsbury Hospital, where I had been born. Mum and I stayed in hospital. My aunty Margaret came to look after Hannah. And I began having lots and lots of tests and investigations. And do you know what? They couldn’t find out what was wrong with me. And that’s because CDKL5 was yet to be discovered.

Then by chance my mun 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!!!! And 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 for this, in the Cardiff Research Project. NEGATIVE. 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 like reliving my early years. Through this, we heard of other girls who had had negative tests, then some time later were informed that they were positive. It didn’t seem to make much sense? So mum went, armed with lots of information, 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 didn’t change me, but it provided mum and dad with answers to some of their questions and contact with other families who were in a similar position to us.   

So that’s me in a nutshell. I’m now grown up. I still can’t do things that my peers do but hey-ho 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 like floating in warm water. I love music and bounce around when my dad plays his guitar to me. 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 can’t let my big sis get all the credit for attitude!!!



We did go to Australia, after a lot of hassle to get my visa and insurance.  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 mum and dad didn’t give up on me and tried everything to get me to fulfil my potential.  We came back to the UK when I was 15 months old. By now I was very delayed in my development. I was very floppy, couldn’t sit independently, couldn’t hold a beaker, make any attempt to crawl and had problems with my vision. I didn’t sleep at night, I screamed a lot of the time, had reflux so my mum constantly smelt of baby vomit (nice!) and despite lots of research , they couldn’t find out what was wrong with me. My seizures were changing all the time and there was a thought that if my seizures were better controlled, I may make better progress with my development. But none of that happened despite trying the latest drugs, Steroid therapy, the Ketogenic diet and alternative therapies. In short mum and dad tried everything whilst trying to give Hannah some sort of “normal” life.

Then we were asked to take part in some research based in Cardiff about girls like me who didn’t have a diagnosis. But again, nothing, I didn’t have the genetic defect they were looking for. Another dead end. By now I was about 10 and mum and dad resigned themselves to the fact that they may never know why I was me. There didn’t seem to be anyone around like me so mum used to say I must have “Ellie’s Syndrome!!!” 


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


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