Saturday, February 28, 2009

To scream, or not to scream?

Obviously, I've wanted to post since my last entry, but time keeps running away from me :)

Jade was released from the hospital last Tuesday, a day or two earlier than anticipated (small Yay!). She was completely weaned from the diet as of Monday and they started her on Pediasure. It took a bit of time for us to get used to her new diet. No more measuring, sticking to strict food requirements or water intake, and no more oil! It's been so much easier and I'm pretty sure she is tolerating the Pediasure well enough by now. She's been eating more baby fruits by mouth too this week. But, the best part is that after she got home, she woke up more and is much more interactive with us! Not only was the diet changed, the doc stripped her of her Zonegran - cold turkey. Just in time it seems, since the FDA recently announced a major side effect in pediatric patients, metabolic acidosis. So, now she is on Keppra, Klonopin (nighttime only), and a hefty dose of Phenobarbitol. I wasn't keen on using this last med, as it sedates and causes more motor problems (like she needs anymore difficulty in this area). But, it seems to be working well. Her seizures are so much less severe and lower in number. Pre-admission, she was having no less than 20-30 seizures per day, with a lot of them lasting 5-10 minutes each. Now, she has around 5 brief (3-10 seconds) tonic seizures per day! It's weird.

In retrospect, she should have been admitted a LONG time ago for her seizure activity. That's the hard part of circulating her among more than one doctor and nurse in the practice. Through it all, it seems that this treating doc (my preferred doc) is/was the only one to make the correct decisions on her behalf. I'm still very frustrated that I (and they) weren't more aggressive with her treatment. I honestly thought her level of seizure activity was the norm. Now, I know better.

Not everything is roses since our return, though. It seems she is developing an infection in both of her big toes from ingrown toenails. I am pretty sure she is predisposed to this happening as this is not the first time. However, this time around, it is serious enough to warrant an antibiotic and warm foot baths several times a day. The doc on call instructed me to take her to the ER tomorrow asap if it has not improved by then. Fortunately, I have an antiobiotic prescription from around Christmas I can treat her with until we can get in to see her pediatrician. He's on vaca right now. Why do the big things always happen when he is not around??!!

I am also at wit's end with the house. We were really really really hoping to get the CO yesterday, but there are a few things that need to be completed before that happens. Even if we do get the CO next week, it will be at least another week before I can move anything in. We were supposed to have sod delivered and put down today. I stopped by twice, and NO ONE WAS THERE - AGAIN!!! Grrrrrrrr..... 

Thank God for wine.


Brooklyn and Kelly said...

Glad to hear you all are out of the hospital and doing better (except for the toe thing) but I am so bummed that you are still waiting on the move....I hope you are in and settled in no time!

Jen Krentler said...

I'm sure you wonder daily why so many things can happen to you every day that cause such aggravation. But I'm glad that when God picked a mom for Jade that it was you!

Stay strong!

Anonymous said...

Reading your story, I am trying desperately not to cry! My daughter is 3 and we have not known what is wrong with her this whole time! Our story is so similar to yours it is really scary! My daughter was tested for cdkl5 2 weeks ago and we are waiting for the results, but I know in my heart this is what it is. I would love to talk/email you with some questions if you are willing. Thanks for sharing your story!

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.

Friends who follow this blog