Content for Families, Carers and Professionals

Young Siblings

We could write the facts of the impact of growing up with a sibling with CDKL5, but we recognise that every child is different, and they deal with disability in their own way and certainly on their own terms.  We will be adding stories to this page as well as resources for young siblings to share with their friends, and peers.  We believe that nothing speaks louder than hearing from a child that is or has lived with a sibling with a CDKL5.

Personal Story

The birth of my sister is a day I remember vividly and most definitely a day I will remember for eternity.  Me and my older brother wandered onto the ward beaming with excitement. I couldn’t stop smiling. We nervously walked through the curtain and there she was, so small and delicate in my mother’s arms, so peacefully sleeping while there is a group of family members gathered round her, celebrating the beautiful creation that is my sister.

Although I was young, I remember her first hospital visit as if it were yesterday. My sister had had her first seizure; and at first neither I nor my brother really understood the concept, but regardless we were worried and just wanted to go visit her. Coming home from school with my grandparents and nobody being home, it didn’t feel right, almost frightening. Speaking to my parents about it, they reassured me that she was fine and had had a ‘seizure’. Being only 6 years old at the time, I had no idea what a seizure was and just assumed the worst. When Me and my brother went to visit them, I didn’t know what to think or what to do, so I stayed silent and hoped for the best. Finding out she had to stay overnight for examination and testing worried my 6 year old self as I’ve never had to deal with something like this, but I knew she was in good hands and that the doctors only wanted what was best for my precious little sister. Being told that she was going to have an MRI and an ECG confused me. I didn’t understand what it meant nor what it would do to her, leaving me sceptical to the idea. Seeing her with cables and monitors on her at such a young age was frightening, but I knew she would be strong enough to pull through and be alright.

Seeing her have a seizure for the first time is another memory that won’t ever leave. Seeing her laid there, with stiffened arms and a blank facial expression, scared me and often left me in tears at the sight. As time went on, without a diagnosis, doctors told my parents that she wouldn’t be able to walk, talk, crawl, feed herself, and would be in nappies for her whole life. Being told such terrible things is not easy for any sibling, nor for any parents, but we all knew it was something we had to deal with as a family, and we were determined.  Overnight stays in hospital, tests and scans became more of a regular occurrence. I wasn’t really sure what they were testing for but all I was thinking was that it was for the best and that it would help my sister. As the results of these many tests came in, we all thought we had the answer. Of course her seizures were as a result of her having epilepsy, however her condition was not as simple as that due to her suffering various other symptoms. For the first four years of her life, she had experienced way more than I had in the 10 years of mine, from hospital visits and numerous tests, to having 3 inch needles in her back and countless amounts of medicines, one of which put her in a life threatening state. Just as hope for a diagnosis for my sister grew smaller and smaller, a test my mum had requested 2 years previous hadn’t been sent, and the result came in. Finally, a massive weight has been lifted - we have a diagnosis. After four years of being in the dark about this, the clouds have been lifted. “Your daughter has CDKL5, this is a mutated gene located on the x chromosome, mainly affecting girls, causing epilepsy, developmental delay, gastrointestinal problems, respiratory problems”, is what my parents were told. Having not dealt with anything like this before, they were frightened for what the future holds and how they would deal with it. Hearing something that had been discovered in 2004 affecting only a minor percentage of the world’s population is a worrying thought, as this means little research and support can be offered. But my parents were determined to make sure she would live the best life possible, regardless of her condition. As far as my sister’s care was concerned, everything was sorted. However, mum and dad also wanted something for me and my brother to go to, to almost take our minds off the life of being a young carer. We attended a session every week that allows us to be out of the house doing things that we want to do, and puts us in contact with siblings facing similar situations. Coming to terms with my sister’s disability was something that needed to happen quickly, but I knew it would be hard. I accepted that she was disabled, but I treated her like any other person. Although I knew she wouldn’t be able to live a ‘normal’ life, I was going to do all I could to make sure the life she lives will be the best she can. I felt no shame in going out of the house with her - why would I? She is my sister and quite frankly I would rather everyone see her than hide her away from people.

A major worry of mine as far as my sister’s condition is concerned was the lack of understanding. A prime example of this is when my sister had sleep apnoea. When told what it was I assumed that she was systematically flat lining throughout her sleep, and that worried me terribly. In order for other siblings like me to have minimal worries, it’s the parent’s duty to educate their children and explain things as fully as they can so that the sibling will not assume the worst and will understand what’s happening to their beloved brother/sister. If siblings have an understanding of what’s going on, then life will be much easier because your child will not worry as much. 

Yes, there has been discrimination towards her and obviously it hurts, but it should be ignored and the more I reacted to it, the more it would happen. Once I began to not care what others thought about my sister, everything was so much better and I was so much happier. It was just a minority who did the discriminating. Everyone else around me supported me and everything my family does for my sister. My sister is the best thing that has happened to me, and that leads me to be very protective. With her not being able to protect herself from others, I take it into my own hands to do for her. My self-set duty of care towards my sister is to ensure she is happy, and if she isn’t then I am to do something about it, in any way necessary.

I get support from family, friends, and staff at school. Yes, having a disabled sister is hard, but with the right support and care around us life can be happy. Having a sister with a disability is not necessarily a sad thing, she is a major influence to not only me but to everyone she comes in contact with. She can’t use words, she can’t use sign language, she can’t type or text, but just having my sister in my presence keeps me happy and that’s the most important thing. Just because she has a lot of ‘things wrong with her’ does not mean that she has a different view of the world. She knows who she loves, she knows what she likes and does not like… just because she cannot say it does not mean she doesn’t understand.

In my eyes, everything she has ‘wrong with her’ is something right for everyone, because she is my biggest inspiration. She is the light of my life and as I get older I realise my responsibility for her welfare will only increase, and I know this is not always the case with other siblings. But in order to keep your special sibling happy all that you have to do is be happy with them. Because even through the worst times, my sister has always pulled though with the biggest smile on her face. Even though the doctors have said that she won’t be able to achieve much in her life, she has already achieved more than I ever will. And it’s because of my two amazing parents that have invested time, love and care into ensuring she lives the best life possible, with new experiences every day. All of us as a family have come so far and learned so many new things about not only my sister, but about ourselves. Having a disabled sibling is hard, but over the 10 years of her life we have learnt to deal with it and we know that she won’t ever be what people say is ‘normal’, but that’s not an issue because we love her for who she is, and will continue doing so forever and ever. 

Cameron, Aged 16