Patients CDKL5 syndrome
CDKL5 Deficiency Disorder: how old was the person you care for when he or she was diagnosed?
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How have you been?
Welcome to the forum "Living with CDKL5 Deficiency Disorder" here on Carenity! In this group you can share your stories and your advice, but also your questions and fears with other members!
How old was the person you care for when he or she was diagnosed? What were the first symptoms? Why did you decide to see a doctor and who finally diagnosed CDKL5 deficiency disorder?
Feel free to share your story and talk to other patients and carers in the comments below!
Thanks for getting this discussion started. I remember how scared I was at the beginning with our baby girl Allison and I think its so important for other parents to share their stories. I want to post mine and hope others will feel comfortable sharing their stories too.
Around 6 weeks I noticed that Alli, was not enjoying tummy time and was not tracking with her eyes. I’m a first time parent, so I didn’t think much of it. Then I noticed these odd movements. I had no idea what a seizure looked like so I called her pediatrician and explained what we were seeing. They told us to go to the ER. So many tests, and waiting, for days. The anticipation and the many thoughts running through your head at all times. We were so worried, even more so when all the tests came back “normal”. How could seizures in such a small child be “normal” So we went home. A few weeks later, we had a neurologist suggest genetic testing. Since she was still having seizures and the medicines weren’t really working, we decided to do it right away and we just wanted to know what was going on. We got the call but I had never heard of CDKL5. After searching online and realizing what it meant, I couldn’t stop crying. But with life, you just have to take it one step at a time. Alli is receiving therapies and is now able to hold her head up and track with her eyes. While there is still a long way to go, I am thankful to be able to see her improve.
We have not yet started keto diet with her and I wanted to know if anyone else had experience with it- does it help, can you offer any suggestions or advice?
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It sounds like you are doing all the right things for Allison. My daughter sees many doctors and specialists as well (physical, occupational, speech and vision therapies). Her epilepsy team put her on the Keto diet, it seems to be helping with her seizures. She has a G-tube for supplemental nutrition and medication.
It's a hard realization to face that your child will never walk or talk but she still brings us joy- we like to take her outside and put her in the bike buggy. Her smile is just so pure
Good luck to you and Allison xx
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