Sunday, December 23, 2007

August 2005

August 30, 2005

We finally finished up our last dose of the ACTH on Saturday, 8/27. She had several episodes of clonic seizures last week which merited an abrupt return to the doc. He upped her Topamax and Klonopin, again. This got rid of the large seizures, but I dare say it looks like her spasms are beginning to return. Several times a day, she has moments where her eyes flick upward briefly and she throws her arms up at the same time. Needless to say, I am completely devastated that the IS is returning and can't bear another regimen of ACTH. Another trip to the doc is in order again this week...

She is also finally returning to PT and has been labeled with athetoid movement. I am just now trying to come to terms with the fact that she may be wheelchair bound the rest of her life and may also need a speech device. Her next MRI is in four months. Perhaps something will show up then...

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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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