After speaking with Jade's dietician, it was decided that she needed to see GI in clinic. So, the nurse managed to get us an appointment yesterday. Since we are not sure what could or could not be going on with her, the GI doc decided to schedule and upper endoscopy and an upper GI to see if anything is wrong. I'm still wavering about whether these tests are absolutely necessary, but by doing them, at least we know where GI stands. I mostly hesitate because they are a pain in the butt to all of us. The endoscopy requires that she be put under anesthesia, and the upper GI requires that she remain still for a couple of hours until the dye runs its course. Ugh!
So, we are tentatively scheduled for Wednesday for the endoscopy and not sure about the upper GI. We are shooting for Thursday since we are already up there. However, if they find something on the endoscopy, then maybe we won't need the upper GI.
The GI doc is also checking with cardiology to see whether she can take erythromycin to aid digestion. I hope he remembers to do that! Maybe it will quell reflux if she is having problems with that right now.
She continues to be extremely fatigued. We've also been noticing some blood around her g-tube site. Some kind of irritation must be happening. She also fights us when we feed her and I feel so bad. There has been brown backwash coming out of her tube when we vent her, which usually indicates old blood, or so I've heard. The seizures are about the same, with a few less each day. But, each day is always different! I started her on Prevacid almost a week ago. Once again, I can't tell whether it is making any difference, so I will give it another week. As for the fatigue, could it be the hotter weather (even though she's not outside much), the increased seizure activity, the low glucose levels indicated on her labs (they are consistently low due to the diet), or has she got something else going on? I can consult with every specialist under the sun, but no matter what we think, we never know because she can't tell us!
And, oh yeah! It seems there are now around 41 worldwide documented cases of CDKL5. The numbers are growing and our little Yahoo group is getting to where it's hard to remember who's who!
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.
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