Sudden Seizure Spurs CDKL5 Diagnosis for Kaleah

Kaleah is a very happy and active two-year-old little girl. I can see it in her eyes that she longs to be normal, to participate in the activities of her other three siblings and more than anything–she wants to walk.

I noticed Kaleah was different at about two months old. I would see her leg jerk when I was changing her diapers, then not to long after her hand started “twitching.”  I would mention this to her pediatrician at each visit and she would say it was just an immature nervous system and that it would work itself out as she got older. However the older she got, the worse it got. At about 10-months-old I saw my precious baby have a grand mal seizure, I was scared to death. I had never seen anything like that before and we immediately went to the childrens hospital.

They said it was most likely a rise in her temperature and that it generally only happens once. After two more grand mal seizures they finally admitted her to the hospital. After the EEG and a cat scan was done they determined it was epilepsy and put her on some strong seizure medications. After genetic testing they confirmed it to be CDKL5 and told us that she would always need help and that she would most likely never be normal. It hurt and I didn’t believe it one bit!

Today Kaleah is two, she is not talking but is making word sounds and even an occasional word!  She is not walking but can cruise along the furniture with a lot of supervision. I say a lot of supervison because she will sometimes just fall straight back. She is in therapy for speech, p.t., and o.t. and it helps a lot. She has a very high pain tolerance and will barely ever cry when she gets hurt. She still has seizures but they’re more controlled. The seizures are generally partial seizures right now ( jerking, twitching, and the occasional grand mal seizure). We have a playpen that she usually will sit in while were are busy but she hates it in there and where we are right now we don’t have a lot of inside space for her to crawl around in. She has a basic understanding of yes and no and responds to many different questions with our own special way of communicating. She is progressing slowly but shes progressing and that’s whats important. I hope this helps anyone out who is just searching for the same answers I am.