Friday, September 12, 2008

Look at Jade swim!

This footing was taken this past Tuesday while she had her weekly aquatherapy lesson. I am so glad we purchased this vest for her! She absolutely loved the freedom to kick around and showed off her swimming skills to anyone who watched. Go Jade! 

We saw her neuro yesterday and the most he decided to do was to increase her Keppra. We gave her an increased dose last night and she slept until 11am this morning! Either it made her extremely tired or she's getting sick. The day we filmed her swimming, she must have had no less than 10 tonic seizures. We'll find out soon enough if she's brewing something.

We were fortunate enough to meet another CDKL5 girl yesterday in the same clinic. She is a couple of months older than Jade and is almost identical in terms of physical limitations. Her seizures are not quite as fierce from what I gather, but she and Jade share a lot of traits. Her mother and I shared stories and I gave her our web info and Jade's blog information. I hope to hear from them again, especially since they are from Florida!

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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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