Our favorite doc called yesterday (our pediatrician), and gave us the results of the urine culture. Thankfully, it didn't indicate a UTI. However, a couple of things were a bit questionable. The test yielded out of range results for Hyaline Casts (0-5 range), low ketones (1+), and a high ph level (8.5). It could mean nothing, or it could mean something. Whatever the case, we're keeping her on the antibiotic (Bactrim), because.....
She didn't have a seizure yesterday for over 8 hours!!!!!!!!!!!!!! (break out the champagne, kids!) I'm pretty sure her last seizure during the night was sometime shortly before 5am, and then she went from then until 1:30pm before having a cluster. Pretty amazing, huh?! Naturally, we were on pins and needles just waiting for the ball to drop.
I didn't post about this breakthrough yesterday because I didn't want to jinx her good fortune. See, the only thing I can really correlate with the seizure break is the Bactrim. She started the med on Monday and had a slightly better night that night. Tuesday overnight, she had even fewer seizures (she went 4 hours without one). And last night, well, her 10:30pm seizure was a doozey, but during the night, I think she had two. Now, it's almost 8am and any other morning she would have been seizing like a madwoman every half hour. Fingers and toes crossed, knock on wood, saying the Hail Mary. Whatever it takes!
Darnit! I knew as soon as I wrote it, she would have seizures. She just had one at 8am. At least it wasn't a cluster.
Ok, so I called the dietician yesterday to give her the lab results. Naturally, she had never heard of hyaline casts or high ph levels. I faxed her the report to give to the neurologist for an opinion. I also left a message with the pediatric renal clinic to see if they can offer any guidance. Neither have called back yet. Of course I will be bugging someone until I get an answer.
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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