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.
3 comments:
I love the look E :)
Can't wait to hang out with you on Sunday baby J!!
She is so beautiful - you are right she is in for sure!!! Give Jade a big hug for us too!
E is so grown up and beautiful! How could she not be a winner?
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