Friday, October 31, 2008

Friday, October 24, 2008

Wednesday, October 22, 2008

Meet Tebow

He's doing well so far! Much calmer than Stryker and eager to please :) I'm hoping that he will become Jade's new "best friend"!


Sunday, October 19, 2008

Operation CDKL5!

Our Yahoo group has grown so much over the past couple of months, that we are all having a hard time keeping up with who's who! One of our members has begun the process of creating an international cdkl5 non-profit, others have volunteered to create/sell cdkl5 awareness merchandise, and I have volunteered to create the first official newsletter! We are all very excited about the "progress" being made and I look forward to being a part of the whole thing. If anyone has a good name for our newsletter, drop me a line!

As far as research goes, we just received exciting news from our group's geneticist. He was recently awarded $405,000 to research this particular mutation!!! It obviously is not nearly enough for our long term goals, but it is certainly a step in the right direction. We are incredibly honored to have him fighting so hard for us. Only two countries, Australia and Italy, have current research focusing on cdkl5. It's pretty upsetting to see that America has no interest - yet. That's where our teeny tiny group comes in! Here's where I say, things happen for a reason; I gained a lot of experience and exposure working for a non-profit organization in the past and now I am hoping my knowledge will pay off. 

As for baby J, she's still having a rough time of things. Still seizing a lot, not the round the clock she was experiencing last week and up until a few days ago, but close enough. We dropped her Keppra back down and we have already noticed that she is a little more "awake" and a bit more vocal. She's also very snotty with a lot of wet sneezes and congestion in her throat. We had to give her a breathing treatment several nights ago because she was wheezing so bad it appeared she couldn't get enough oxygen. Three a.m. and I'm fumbling to figure out how to set the damn machine up! Thank god for P's knowledge in that area :)

And....we added our new member today! Please welcome Tebow (yes Gators fans, that's who!). He is an 8 week old American Bulldog. He's much calmer than Stryker and he seems to be able to hold his urine!! It's our first night with him tonight. Guess I should go to bed now since I'm sure he will have me up a few times. Crossing my fingers...!

Tuesday, October 14, 2008

Doctor appointment update

Jade went for her quarterly checkup today to meet with the Ketogenic team. After countless needle sticks for a blood draw (not once did she flinch or cry out, even while the nurse dug for veins on several occasions), we were finally successful in pulling her blood. I feel so awful for her when she presents as such a hard stick. It is incredibly painful to have someone dig around for a vein. I wish I could reward her with a sweet treat for being such a trooper. :(

As for her diet, no modifications were made. She gained 2 pounds since September! She's around 40 inches or so, and weighs about 42 pounds. Not such a lightweight anymore! Her initial labs came back good, so that is a relief. Hopefully the rest will be good too.

I spoke at length with the doctor about coming up with a new plan of action for her. She is basically seizing around the clock these days. I realize part of this is because of her ear infection (which, by the way is hopefully clearing up). We also realized that her seizures have increased A LOT since we upped her Keppra dose back in September.

So, here's the plan: once her ear infection clears, we will lower her Keppra back to its maintenance dose. This should take about 3-4 weeks to do. At the same time, we will be increasing her Zonegran levels to 100mg twice a day. We were never sure if the Zonegran made an impact after it was initiated. At the same time, a couple of changes were made to her diet and she was recovering from an illness that required antibiotics. So, after about a full month on the increased Zonegran, we will hopefully have an idea as to whether or not it is really beneficial.

Plan B is a little more complicated. We have a few other potential medication options. Lyrica is on the table, so is Felbatol, Depakote, and Clobazam. However, Lyrica was nixed by her neuro in January this year already. He stated it wouldn't be effective in helping her. I plan on reintroducing this drug idea to him when we see him in March. Felbatol is a black box drug, meaning that it has a very severe and fatal side effect called aplastic anemia. Parents are even required to sign a waiver stating they are aware of the potential side effects. However, this particular drug has proven very effective for controlling seizures in persons with refractory epilepsy. Depakote can cause liver problems, and she would potentially have to come off of the diet to start that one (fat chance!). Clobazam seems to have proven pretty effective with some of the cdkl5 children, but this is not FDA approved. Liver toxicity is its reason for not gaining US approval. But, there may be a small chance she can replace her Klonopin with this, if I can persuade her neuro to do so.

So, considering my alternatives, I ask you: What the hell would you do?!

Friday, October 10, 2008

We're baaacckk!!

We got back safe and sound on Wednesday. It was an amazing trip and we had great weather almost the whole week. The most amazing thing about Ireland is that there is a pub on every corner, and almost in between every building you come across! It was nice to be able to sleep in, stay up late, not have to worry about logging seizures, measuring food portions, etc. The kids were great in our absence, however, baby J came down with the nasty cold I left with. She's still pretty snotty and has an ear infection to boot! Go figure. :(

Her seizures are virtually unchanged. We go to see her Ketogenic team next Tuesday. I think I will persuade them to lower her Keppra dose to what it was a month ago. The increase has done absolutely nothing for her, so why bother? After reading most of the comments posted about the CDKL5 kids, it's very tempting to reduce all of her meds and just go with the Keto diet. We'll see what the good docs think.

On the home front, our new puppy should arrive within the next week or so. Wouldn't ya know, one of the names we're kicking around is Guinness :) He's a real cutie though and the kids are so excited for him to join us. Let's hope this time around, we don't have the problems we had with Stryker (who is doing very well by the way).

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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