Sunday, December 23, 2007

June 2006


A lot has happened, but in a nutshell: she's still on the diet at a 4:1 ratio as of mid-May, still on Keppra (125mg bid), Klonopin (.5mg am and .625 pm), Prevacid (15mg bid), and her dietary supplements. We got rid of the Topamax in mid-May. I dare say that by getting rid of that, we possibly brought back increased seizure activity. But, I refuse to use it again. She seemed to "wake up" so much more off of it that it's hard to justify putting her back on it.

She is still unable to walk, talk, sit unsupported, or do pretty much anything independently. She still does not smile, laugh or make eye contact. Thus....we are having her tested for Rett Syndrome. She exhibits a lot of signs of the disorder (i.e. hand mouthing constantly, does not like her hands/arms being manipulated or touched, seizures, non-verbal, teeth grinding, no eye contact, no smiling or emotions, high pain threshhold). We are also testing her for MAE (myoclonic-astatic epilepsy or Doose Syndrome), and SMEI (severe myoclonus of early infancy). She recently had a week long VEEG becuase she was exhibiting what appeared to be seizure activity (tonic posturing briefly with head turn to one side, either right arm/leg raised and lowered, raised and lowered - or vice versa on left side, eye deviations, staring spells, mouth open, tongue out, and teeth grinding). She had no less than 20-30 of these episodes caught on video during her monitoring. None of them showed epileptic activity, with the exception of 1-2 brief (10 seconds or less) actual seizures (eye deviations). I am completely thrown for a loop and we are thinking that these new "seizures" are either self-stimulation or the seizures are buried so deep in her brain the EEG does not pick them up. And, to top if off, he said her EEG indicated at least a 60% reduction in seizure activity since her last VEEG (July '05, I believe). Kudos either to the diet or Keppra!

Regardless, we are now trying to take her off of her Klonopin. I started the other day with only an 1/8th of a tab drop in the pm, and have noticed some increased activity already. I'm still going to push the wean because I absolutely hate the stuff and it isn't doing much for her anyway. Hope she weathers it well and we won't need to take any drastic measures.

So, for now, we wait for the bloodwork to come back and go from there. She's currently having daily clusters of myoclonic jerks or head drops followed by these odd posturings. The big ones occur between 4-7 times a day and are 2-3 minutes each. The little ones happen all day long and it's hard to keep track. Those that I am able to record usually total around 10-20 per day.
If anyone else has similar experiences with Rett, MAE, or SMEI, please email me. It's hard finding info from other parents on these disorders since they are not as common in the general population. If it's none of these, great. But, also, if it isn't one of these, then what the heck is going on????

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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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