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 thumbs!! :)
Love the pictures since I rarely have gotten to see the kids. All are growing so much! T looks like dad, but E and Jade look like you!
Anyway, last night on SO YOU THINK YOU CAN DANCE, they talked about the one choreographer, Jean Marc Genreau, that has a daughter with Rett Syndrome! They did talk a little about it and how watching dance makes his daughter happy...he can see it in her eyes even though she cannot express her thoughts.
Every little bit that people talk about it makes more people aware...maybe it can help Jade too.
Kay - these photos are great. I really love getting your updates on Jade and the family and seeing the progress on the house.
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