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The beginnings of CDKL5
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Welcome Letters

Karen's Letter
If you have come to this site, chances are someone you love has been affected by CDKL5. As a mother of a child with a CDKL5 disorder, I want to offer support and hope for you and your family. It is very difficult to learn that there is something wrong with your little child, especially when the disorder is rare, and there is relatively little known about it. I would like to share our story, in the hopes that it encourages someone else.

Our precious bundle of joy, Samantha, arrived on October 17, 2006. She was quite a surprise, but what a blessing. We already had three girls ages 17, 15, and 12, so you can see there is a major age gap! In the first two months of her life, everything seemed normal. When Samantha was 2 ½ months old, we realized something was wrong. She had begun to have seizures, and did not seem to be developing as she should. At the time, the pediatrician was not concerned, and said it was a myoclonic seizure. He explained that her nervous system was still developing and she would possibly have these once in a while, but she would outgrow it by 6 months. Well, unfortunately, the seizures began to increase, and within a few weeks she was having several per day. We made a trip to the ER at Texas Children’s Hospital, in Houston, Texas. After a normal EEG, CT scan, and many other tests, she was diagnosed with a severe sleep startle, and we were told to follow up with an appointment with Neurology. We did this, and went with a video in hand. The epileptologist watched the video, and said they were definitely seizures, he believed she had benign myoclonic epilepsy, and she would outgrow it. As time passed, the seizures and developmental delays continued, and so did the battery of tests. Finally on July 3, 2007, we received a diagnosis of a CDKL5 mutation. What a bitter sweet moment. After 18 months of wondering, we had an answer, but it was not the one we wanted.

We have tried to make the best of this as a family, and we all work to help Samantha become all that she can be. For us, therapy has been a huge success story. Everything Samantha has learned has come through much repititon. She could “tripod sit” at seven months, and she pushed to sitting alone at 14 months. This is where she stayed developmentally for a while. She didn’t mind bearing weight on her legs, but absolutely hated being in the crawling position. We had hit a wall. When Samantha was two years and three months old we discovered intense physical therapy. Her progress with this has been amazing. She learned to crawl when she was 2 ½ years old, pulled to standing shortly after that, and could stand alone for about 30 seconds. In October of 2009, just before she was three, Samantha began to take independent steps. By February she was walking in excess of 100 steps at a time.

If there is one message I would like to leave any parent with, it is to NEVER GIVE UP! Our children can progress, learn, and be successful in their milestones. Our neurologist tells us to never let anyone tell us what Samantha will or will not do. He encourages us to push for all we can get out of her. I firmly believe that without the therapy, persistence, and hard work, she would still be lying on her back, doing nothing. We see progress almost every day. Sometimes the accomplishments may seem small to others, and yet to us they are remarkable. CDKL5 families are small in number at this time, but our determination to make a difference for our children is our might! We hope that you will join us in our efforts to work to make a difference for them. All of these children are amazing, and our hope and prayer is that we can find a cure.

Karen Utley

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