Meet Isabella our CDKL5 September Spotlight! Mom, Alexia, shares her story!

This is Isabella, our resilient happy three-year-old. We didn’t receive our CDKL5 diagnosis until she was around one. Up until then we were trying to find answers for the seizures she was having. We had done multiple tests, met with so many specialists, and waited months on end for an answer.

Once we got the news, it was a weight lifted off my shoulders. While I had no idea what CDKL5 was at the time or what kind of impact it would have on our daughter’s future, I was just so relieved that we had an answer for why these things were happening.

Once I started to understand and connect with other families impacted by CDKL5, it kind of hit me that all I wanted for Isabella is for her to be happy and live as much of a “normal” life that she could. For me, that meant adapt everything, so she isn’t being held back from experiences. At home, we do a lot of therapies and work from all different angles with Isabella.

She is currently in physical therapy, occupational therapy, and speech/eye gaze. She gets each therapy service 2-3 times a week, and when she doesn’t have therapy, I’m constantly working on sitting, playing, or doing something sensory stimulating with Isabella. She has made so many accomplishments within the last year and I couldn’t be more amazed by her and all of the hard work she puts in.

Any time we reach a new milestone, it makes me so proud of her and reassures me that what we are doing is working.

There are no limits for children impacted by CDKL5 and although doctors and experts tend to say all of the things your child may not be able to do on their own, they never really prepare you for all of the accomplishments they will achieve or how much they will amaze you. I hope for a cure for CDKL5 soon, but in the mean time I will continue to raise awareness, advocate for Isabella, and make sure she is never being held back from making new memories and experiencing different things.

This disease is a very hard pill to swallow, and I still have very hard days, even years after the diagnosis. You have to take each day at a time and find a good support system. With CDKL5, the unexpected will happen, and things always change with our kiddos. There’s really no way to prepare for that, you just have to keep pushing through. Find your strength in something that can keep you going. For me, that’s Isabella.