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.

Friday, February 20, 2009

What would our year be like without a vacation at Shands?

Alrighty, here's the story...  

As most of you know, Jade's been having more seizure activity than we are used to seeing. After phoning neurology early Tuesday morning for some guidance, we were told to go to the local ER to assess her. The previous night, she was seizing no less than every ten minutes for 3-4 hours straight. I thought they were tonic-clonics, but I was later told they were not.  

We took her to the local hospital, had a bowel xray (since she hasn't been as regular as usual), and had labs drawn (I brought her in fasting). Both results were fine, and in the 5-6 hours we were there, she didn't seize ONE TIME! So, they sent us home with instructions to use Diastat when needed. We ended up using it that evening.  

We were scheduled for a regular clinic visit Thursday with her primary neuro. Needless to say, she had no less than 5 seizures in front of the staff in the 30-40 minutes of the appt. After discussing options, it was decided that after three years of being on the diet, it was likely no longer benefiting Jade. We had yet to try Depakote and her neuro mentioned this is the drug of choice for Rett girls (I have read this in previous posts). He said if it were up to him, he would admit her immediately and wean her from the diet within a week.  

So, here we are, weaning the diet, and she is completely doped up on Phenobarb. Their plan is to have her on regular fluids/foods by Tuesday and to start the Depakote around that time. They say it is not safe to take Depakote while on the diet. I have not known what to do for such a long time now, that it was a little bit of a relief for someone to make a decision. I am not happy that she will be on FIVE drugs upon our return home, but we can't take them all away at once without dire consequences. I think that ultimately, she will be weaned from her Keppra, the pheno, and possibly the Zonegran. We will have to return in 6 weeks from our discharge for further direction.  

I am told that we will be here no less than 5-7 days. I don't see it being less than 7. It won't be until Tuesday that they consider giving the Depakote and they need to see how she will respond to it. Her attending today said he spoke with the neuro we met with on Thursday and they compared past and present EEGs. Since last year, her EEG hasn't changed, only her visible seizure activity has. All the more reason to nix the diet, since we have tweaked it so many different ways during that time, with no real success.  

On the one hand, it was fortunate that we stayed for her admission on Thursday. She ended up having a 20-30 minute seizure not too long after getting her settled. They were just preparing to insert an IV when she began seizing. No time like the present, huh?!  

She's been sleeping the entire time. At least her noticeable seizures are way down. What I don't like is that she is not emptying her bowels, and they had to cath her this morning because she went almost 12 hours without a wet diaper. At least she's peed since then. The best part of my stay (if there is a best part), is that I have a private room! I had to share last night and my roommates had the tv and lights on well past 4 a.m. I just don't get it. She's all decked out in her "skull cap", pink IV board wrap, and she gets a luxurious Tempur-Pedic mattress! No wonder she's been sleeping the whole time :)

And, of course, we plan to move into our house the week after next. Let the saga go on...

Sunday, February 1, 2009

Chillin' and Illin'

You know it's Winter when your kids get sick, recover, then get sick again right away! Baby J is coming down with a cold, thanks to big sissy. She's been sneezing a lot, which is good because then she can get some of the nasties out since she can't blow her nose. Poor little bug!

As for seizures, they're still hanging around, but some days are better than others. Our latest flurry can be explained by her current illness. Not as bad as I expected - yet. I dropped 50mg of her nighttime Zonegran. I honestly swear that each time I do a med drop, she gets sick! Crazy, but seemingly true. My goal is to have her weaned of Zonegran by our February 19 neuro visit. The pharmacy we get it from no longer carries the generic she had been taking. The manufacturer changed and I don't want to play around with different formulations of anti-seizure meds. I don't care how many docs think that generics work just as well. I don't and never will subscribe to that thinking. There's a reason generics are get what you pay for :)

The house is down to the nuts and bolts stage. Tile went in last week and should be finished by Wednesday of this week (boy, that's a story in itself with the installer - quite a piece of work he is). They are almost finished hanging doors, the painters have the biggest job, but are about 3/4 of the way finished. Our dining room is fantastic! The ceiling is a piece of art in itself and the wine room is extraordinary. All of the base cabinets are installed in the kitchen and the appliances arrived Friday. There is still a lot of detail work to be done, but I am seriously keeping my fingers crossed we can have the CO by the second or third week of this month. Keeping my fingers crossed..

.  GO STEELERS!!!!!!!!!!!!!!!!!!!

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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