Sunday, December 23, 2007

July 2007


Things still pretty much remain the same with Jade. She has increased seizure activity with illness or stress. Otherwise, the daily seizures are mostly myoclonic or staring/absence/eye deviations. Not a day goes by without some sort of seizure. She is rolling back and forth and onto her belly again. She stopped doing this after the g-tube placement due to the discomfort. We finally found that the AMT mini-button works the best for her and now she doesn't seem to mind being on her belly again.

I hope that other parents who read stories on this site take note of her mutation, as it is very uncommon. For those who have children (primarily girls) with no diagnosis, consider having her tested if she meets the criteria for Rett Syndrome-like behaviors. The most prominent feature of CDKL5 is early seizure activity and Infantile Spasms. Also, hand mouthing/wringing and teeth grinding are warning signs. I have had at least one parent contact me after reading Jade's story and finding out their child had this diagnosis. We have a group on Yahoo (CDKL5) and the comraderie is beneficial to all of us.

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Our peanut in a nutshell...

Hi everyone! Thanks for visiting my blog. My name is Jade and I am currently 8 years old. I have a big sister and a big brother whom I love very very much.

I have a very rare neurological disorder that isn't even named yet! It is a genetic mutation called CDKL5. It is considered a variant of Rett Syndrome and presently, I am only one of around 600 or so children in the world documented to have this mutation. Each child is unique in that his or her symptoms vary quite a bit. Unfortunately, I am one of those children who is affected much more severely than most of the kids.

Some of the problems I face include:

Reflux (in October 2006, I had surgery to have a Nissen Fundoplication done and to have a gastrostomy tube inserted for feedings). As of March 2012, I have a GJ tube for continuous feeds.

I am hypotonic - I have virtually no muscle tone and I find it difficult to even hold my head up on my own.

I have cortical vision impairment - my brain doesn't process the images it sees. Sometimes I see off to the side, sometimes, my vision is shuttered, sometimes I don't have any vision at all. The doctors and my Mom and Dad don't really know how or what I see because I can't tell them.

I cannot talk nor communicate with gestures.

I cannot walk, nor will I ever walk.

I grind my teeth. So much so, that some loosen during seizures.

I cannot grasp objects or use my hands for the simplest of tasks.

I cannot sit on my own. I can, however, sort of roll over from side to side.

I am choreoathetoid. I cannot control the jerky movements my arms and legs make.

I have life-threatening seizures every day. This is my greatest challenge.

So, now that you have gotten to know me, please feel free to take a stroll around my blog. Some of it you read may seem depressing, horrible, unfathomable, and downright crazy. But, this is my life.

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