CDKL5 Deficiency Disorder
My name is Karina and I have been the sibling of a child with CDKL5 for 10 and a half years, since I was five. Because of this, my family life experiences have been different from the average teenager’s. We have had some lows, but ultimately, many highs as I have gotten to know the best little person in the world, my little sister Beth. This is her story from my point of view.
I vividly remember learning I was going to have another sibling. I was overjoyed with excitement. The night before she was born, little 5-year-old me was running around jumping on the furniture with my 3-year-old brother. My smile didn’t leave my face and I was waiting for my little sibling to arrive, praying it would be a girl. When Beth finally arrived, I remember her tiny hands could fit around one of my fingers.
When we first brought her home, we thought everything was normal, but less than six weeks later our family life changed forever when Beth suddenly needed to go back to the hospital again … and again and again.
I felt as if she had been taken away from me, and my mum and dad with her. They were constantly at the hospital. I remember standing at the top of the stairs asking my mum if I’d ever see my baby sister again. She had many assessments and spent many nights in the hospital, but the doctors could not figure out what was wrong with her.
One day, my parents told me they had found a doctor in Italy who had said he would admit Beth to the hospital and run tests until they had a diagnosis. We were so desperate for answers that my mum and Nan jumped on a plane with her right away. A few days later, my brother and I packed a suitcase and headed to Italy for what we thought would be a week. But Beth was in a critical condition and the only places offering any answers and the right care were in Italy. One week staying on the outskirts of Venice quickly turned into a few months.
We all settled in Italy. I was enrolled in an international school there, which was an interesting experience. The days in Italy were long – our family of five and my Nan were staying in a one-bedroom apartment.
I visited Venice, made friends, and loved the ice cream parlor opposite our flat. But life was also surreal. One parent was usually in the hospital while the other or my Nan tried to give us a somewhat normal childhood. One memory I have of Italy was my 3-year-old brother running around the room with his doll saying it was having a seizure. Unfortunately, that’s what our lives had been consumed with.
About three months later, we came home with a diagnosis of CDKL5. I went back to school and was glad to be back in my home and with my friends.
Today, I’m an ordinary 15-year-old girl in my second year of GCSE’s. I’m not going to lie, at times it can be really hard. I still get this bubbling anger inside of me when I’m out with Beth just trying to have a coffee and everyone’s heads are turning to look at her. I still feel my privacy has been invaded when caregivers come through our home.
I tell Beth I would switch places with her if I could, so she didn’t have to go through any pain. I still feel helpless when I see her going through the pain of a seizure, holding her hand while she’s crying uncontrollably. I would give anything to hear the words, “I love you” come out of her mouth just once.
Beth has given me and taught me so much. Seeing her strength is inspiring, and eventually after many, many years of physio and help, we were rewarded about a year and a half ago when she took her first steps. I have a video of Beth first walking, and I can’t describe the feeling our family had watching her take her first steps, after all everyone’s hard work. Months later, she was walking without much support.
Having a sibling with CDKL5 is the best thing that has ever happened to me. I now see the world through the eyes of possibility and I have my wonderful family to thank for that. We have gone through a lot and I think we all deserve the credit for getting through the last 10 years and making the best of the situation. My dad deserves credit for constantly being the peacekeeper and always making us laugh when we needed it the most. My brother for putting up with everything and never complaining. My mum deserves so much credit for never giving up on Beth and doing everything she could to help her walk. And, my baby sister Beth deserves so much joy and happiness for lighting up a room just by being in it and for inspiring everyone who’s ever met her.
CDKL5, you may be able to knock my family down, but you can’t keep us down.