Sunday, December 23, 2007

December 2007

December 23, 2007

We are finally home from the hospital. For those of you who didn't know what was going on, she had increased seizure activity and we were hoping to give her some kind of medicinal break. Fat chance! We were admitted Monday and got home Friday afternoon. I had a tough time leaving as I am scared to death of something happening to her on my watch. She’s been doped up with Phenytoin IV, and they sent a script home for the same in tablet form for 7 days. It hasn’t made too much of a difference and I wonder if it has made her seizures worse?? They started her on Zonegran a few days ago and put her on Klonopin at night. So, now she’s on a 3.5 ratio on the Ketogenic diet, Keppra 250mg bid, Zonegran 100mg in the am, Klonopin .25mg at night and prn, Diastat prn, and the Phenytoin 50mg bid for 7 days. They were/are very reluctant to put her on so many meds, but know that I’m more than scared about her current seizures. Just when I think her seizures are at their worst, they get even worse. And, I know to expect harsher ones to come. They basically gave her an indefinite death sentence. Not a comforting thought and not something I want to face at Christmas.

Jade had been given the Lennox-Gastaut diagnosis over a year now and have been waiting for it to peak. We talked about the few other options out there and they are very reluctant to do anything more at this point. The VNS is going to be a hard sell, either because of her age or heart arrhythmia or because of its unproven efficacy. They will put it on the table in January. The only other drug we haven’t tried is Felbamate. Anyone have experience with it? That’s a scary drug, especially at 3 years of age.

I realize with this seizure disorder, the child goes in and out of cycles. I am praying for a good cycle to come along. My other two kids are scared of her new seizure type and I dread what they will think when she gets worse.

I don’t think her medical team knows enough about CDKL5 kids except those in their practice. I tried to get as much info from them about the other kids, but you know the whole patient/doctor confidentiality crap! What I gathered is that they have about 4-5 kids, boys and girls. One boy passed away (I think he was under the age of 5), but was never formally tested I think because it wasn’t available yet. I think they are now testing his sibling, a girl. The other two children are girls around Jade’s age. One family is completely out of options and they are waiting for her time to come. The other family has their child in and out of hospice. From what I understand, it’s only a matter of time for her. But, they are also saying the same about Jade…Ugh. They also have one other boy, I believe, that is being tested right now for the mutation. Regardless, I gave the nurse the Yahoo site I belong to (CDKL5 Yahoo) and asked her to please pass it along to the other parents. I hope she follows through.

I will keep posting as the days go along. Currently, Jade has tonic seizures and tonic spasm clusters, lasting anywhere from 4 minutes to over 20 minutes. She breaks between each tonic, but it’s prolonged nonetheless. She generally stiffens with arms and legs out and up for 5-15 seconds. She also has these clusters intermingled with atypical absences and some myoclonics. All typical of LGS.

At least she seems to be doing better since coming home. She probably has around 6-7 tonic brief tonic seizures at night and 2-3 clusters of tonics and myos during the day. They are down in length of time too, I think. As the days go by, she is a little more interactive and awake. We relish any little good thing she does right now!


It's been a while since I've posted and am only doing so because I've been contacted by several families with children like Jade. It's been a tough road for her and nothing has really changed except for diet modifications, medication changes (tried and failed at Lamictal again), and increased seizure activity. We are completely out of medication options, so we're in a very big rut. Her seizures have intensified and look like a big version of Infantile Spasms (she will have what looks like a series of 3-5 second tonic spasms over a period of 20 minutes). I can't see giving her Diastat because she would be receiving it everyday, all day long with the amount of seizures pounding away at her. Happy Holidays, right? Ugh!

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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.

Friends who follow this blog