Gunner's Story

Gunner was born on March 29, 2007 ...he weighed 8lbs 10.4 oz...he was a healthy baby boy. It seemed like everything was great. We had no reason to think that he wouldn't be just like his older sister, Callie and be perfectly healthy. I knew early on that there was something wrong. He just didn't seem to do things that he should be doing for his age. Even at a few weeks old I noticed he didn't even try to look at things. When he was a couple months old we started noticing that his eyes would do strange things like they would dart back and forth really fast or go to one side....then he started having "shaking" episodes. We talked to his pediatrician and he suggested we see a Neurologist. Of course he never did even of those things while he was hooked up or while they did the 24 hr video monitor. The EEG was abnormal but didn't show he was having seizures. We just went home hoping he would get better and that he was just going to be a little behind for his age. When he was about 6 months old he started having seizures though we didn't have any idea thats what they were. This time when we went to the Neurologist the EEG showed he was having seizures and he even had one while he was hooked up. He was diagnosed with Infantile Spasms but they couldn't tell us what the cause of the seizures were. That day was one I will never forget. The Neurologist did not have good news for us. The most important thing was to try to stop the seizures but even then there was a 90% chance that he would never be "normal". He started Gunner on ACTH which was an injectible so I had to learn how to give him shots once a day. Something I never thought I would ever do...But I have done alot of things I never thought I could do....He contined to have seizures although they were a little better....but we could only keep him on the ACTH for 6 weeks because of the side effects. We contined to see specialists to try to find the cause of the seizures......we kept hoping that we could find out and whatever it was we could fix it and he would be better........in February 2008 they admitted him to Cook Children's in Ft Worth to start him on the Ketogenic Diet...they also did a Fundoplication to fix his severe reflux (which was wonderful) and also did a muscle and skin biopsy. They came back negative...thank goodness.....after that the diet seemed to help his seizures even though he is still not seizure free...he continued to have more lab work done and finally a lumbar puncture......one of the Genetic Tests they did was for CDKL5 which came back positive......it was something we didn't want to hear but at the same time it was a relief to finally know what it was that was causing all this....and he wouldn't have to continue to suffer having all those tests done......we found out that it is thought to be very rare in boys but also that they used to think that boys don't get it because they wouldn't survive...he was the first boy to test positive at Cooks in Ft Worth. We have since found out about at least 3 other boys in the world that have it....there may be more that we're not aware of....I have found a wonderful support system and friends on the CDKL5 Support Group.....they have been helpful with suggestions and information....they are starting a website called CDKL5.com to hopefully educate other people about this disorder.....we don't know what the future holds for Gunner....we are just taking it one day at a time....we love him not matter what.......