Nothing different today, except for even more seizures. I hope the antibiotic she is on helps in some way. If she's truly sick with some infection, it could be causing some of the increased activity. Her clusters are coming closer together and include both tonics and tonic-clonics. She stops breathing with the tonic seizures. If they get any longer than what they are now (10-15 seconds), she's going to end up in the hospital again, with oxygen.
If you're saying prayers for her, bump 'em up a little bit! She needs some serious help now...
Little is known about CDKL5. I am hoping by creating this blog, word will get out and parents will communicate more if their child(ren) have been diagnosed with this mutation. It is a devastating neurological condition causing a variety of problems, intractable epilepsy being one of the primary signs. Welcome to our blog...
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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.
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:
Hi Jade,
Mias here (a fellow CDKL5 child). Love your blog, you must tell your mummy she did good. Have you checked out my site yet its lovely www.mialoudon.co.uk
Hope your feeling better
Mia x
Hi Jade,
Mia here (a fellow CDKL5 child, for those who dont know me) I love your blog, your mummy did good. What would we do without them?
My mummys made me a website, you should get your mummy to look at it with you so you can see me its www.mialoudon.co.uk. Hope your feeling better,and that you had a lovely christmas. Lets hope we both have a much more peaceful 2008
Love Mia x
Hi Kay,
Charlie told me little jade was not doing too well lately...my thoughts and best hopes are with her and your family too.
I look forward to seeing you guys and Jade too, I got her a few little xmas presents!
I like your blog, it is very well designed and you write well...I hope it gets the attention it deserves and CLKL5 gets more attention too.
I love you Jade,
Uncle Gooey
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