Alex was born on the 25th May 1996, 9 days overdue, normal delivery and no problems detected. We were delighted with our first-born and we were the proudest parents ever. Alex was a bad feeder from the start and had bad reflux. The crying started from the first night and being a new mother I thought this was a normal thing, so we just put up with it, walking the floors and driving around the streets at all hours of the night. Alex had her first seizure when she was 8 months old, which knocked us for six. We spent two weeks in the hospital the first time, undergoing test after test, getting EEG after EEG done and then the dreaded diagnosis of infantile spasms and Development Delay. At the time I thought the Development Delay will not be too bad and she will just be a little slow but I struggled with the epilepsy. We left the hospital with our little baby thinking what do we do now. Little did we know then that we were entirely on our own.                                                                                         
As Alex continued to battle the dreaded seizures and coped with the different medications, the doctors decided to do some tests to see if Alex’s condition could be traced to a syndrome. Each of the tests came back negative. Over the next few months we were in and out of hospital. We were trying to get Alex’s seizures under control and looking at our baby go through hell. She would be sleeping all the time after the seizures, or sleepy from a new drug that had been tried out on her.  

As Alex never reached any of her goals like sitting, talking, walking at the age she should have, we as parents realized that it was a bit more than a Development Delay. We went through a lot of different emotions as parents– the grief of loosing the little girl I as a mother dreamed of having and accepting the little girl I had now, to thinking what Alex’s future would be and how we could make it as good as possible. 

When Alex was 2 years old, we got into a service which provided physiotherapy and then led to getting into a pre-school which opened the door to all the other therapies we needed. After 16 months of hoping we were doing our best for Alex on our own we wanted someone to come on the journey to guide us through the next stage. When Alex got to 2 we decided to try ATCH, which worked very well as it controlled her seizures for 2 years. But then the drug ran its course and we were left disheartened and we had to start over with more drugs. As the years passed, none of the new drugs worked for very long and we had to accept that we would never get Alex seizure free.  

As a mother I went through some terrible guilt-ridden months, thinking what caused this to happen to my little baby. I spent many sleepless nights going over my pregnancy in my head and thinking what I might have done to cause this.  

We went on for many years not been able to accept Development Delay as Alex’s diagnosis. I needed to know if there was a name for what Alex was suffering from, so when she was 11 years old, her neurologist told us that there was a test he would like to conduct on Alex for something called Rett syndrome. This was a relief to me, for I thought there was a name for her condition. It took about 3 months for the tests to come back and when it did, it was borderline. They were not entirely sure but they would still class Alex as a Rett girl. After that we meet a lot of Rett girls and made some lovely friends, but the borderline still stuck in my mind as not a clear diagnosis. 

A year later, her neurologist came back to us again and said there was a new test out for CDKL5 which he would like to test Alex for, as he was not entirely sure about the Rett diagnosis.

Alex is now 16 and is still my baby, we have our good days and some very sad days but after all the years of ups and downs we have to remember that life is for living and not to let CDKL5 run our family.

Written by:  Paula Connolly (Parent)