Inspirational Amber

CDKL5 Deficiency Disorder

“I remember the day my sister was born vividly. My brother and I 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. Although I was young, I also remember her first hospital visit as if it were yesterday. She had her first seizure, and my brother and I didn’t really understand the concept and were worried. We just wanted to go visit her.

I assumed the worst, even though my parents assured me she was going to be fine. When I went to visit her, I didn’t know what to think or do, so I stayed silent and hoped for the best. Finding out she had to stay overnight worried my six-year-old self; I’d never dealt with something like this. Being told she was going to have an MRI and an ECG confused me. I didn’t understand what it meant or what it would do to her. Seeing her with cables and monitors on her was frightening, but I knew she would be strong.

Watching her have a seizure for the first time is another memory that won’t ever leave. Seeing her with stiffened arms and a blank facial expression scared me and left me in tears. As time went on without a diagnosis, the doctors told us 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 family, but we were determined to deal with it together. Overnight stays in the hospital, tests, and scans all became a regular occurrence. I wasn’t really sure what they were testing for, but I told myself it was all to help my sister.

The results of all the tests came in: her seizures were a result of epilepsy, but her condition was not as simple as that. Already in the first four years of her life, she experienced way more than I had in the 10 years of mine, from hospital visits and numerous tests, to having three-inch needles in her back and countless amounts of medicines, one of which put her in a life-threatening state. Hope for the right diagnosis kept growing smaller until a test my mum requested for two years was finally sent out, and a massive weight was lifted. We had a diagnosis. “Your daughter has CDKL5,” the doctors told my parents, “a mutated gene located on the X chromosome. It mainly affects girls, causing epilepsy, developmental delay, gastrointestinal and respiratory problems.” Hearing she had something just discovered in 2004 that affected only a minor percentage of the population was scary. We knew there would be little research and support.

Now, the biggest concern I have with her condition is a lack of understanding. People have discriminated against her and that hurts, but I’ve learned to ignore it. My sister is the best thing that’s happened to me and since she can’t protect herself, I do it for her.

But having a sister with a disability isn’t always a sad thing. Although she can’t use words, sign language, type or text, just being in her presence makes me happy. 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 feel it.

My sister is my biggest inspiration. She is the light of my life, and as I get older I know my responsibility for her welfare will only increase. I know this is not always the case with other siblings, but even in the worst times she always pulls through with the biggest smile on her face. The doctors said she won’t be able to achieve much in her life, but that’s not true. She has already achieved more than I ever will. And it’s because of my two amazing parents who have invested time, love, and care into ensuring she lives the best life possible, with new experiences every day.

We have come so far as a family and learned so many new things about not just my sister, but about ourselves as well. We know that she won’t ever be what people say is ‘normal,’ but that’s OK. We love her for who she is, and will forever.”

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