Saturday, January 19, 2008

Our Thursday neurology visit

I finally got a spare moment to update since our neuro visit. After waiting FIVE hours to see the doctor, this is the plan: increase her diet ratio to 4:1 for three months. If we don't see a 50% reduction in seizures, then we go to a 5:1 ratio for a few months. Talk about a lot of fat in the diet! If, after going that high, we see no change in seizure activity, we will take her off of the diet and introduce Depakote. The diet and Depakote are not safe together, which is why we won't use this drug now. It seems to have a proven efficacy rate with Rett girls. We hope the diet will do what it is supposed to accomplish so we don't even need to consider that route for a while.

I really wish this doctor had been the attending while she was admitted in December. We get what we get, unfortunately. He wasn't too pleased after hearing that we were led to believe she could die from this disorder/seizures. He reiterated what I already knew: most deaths occur from physical complications (pneumonia, infections, etc.) due to being non-ambulatory/non-weight bearing, than from seizures. So, we just keep doing what we've been - physical and occupational therapy, aquatherapy, using her stander, and whatever else might benefit her physically.

We talked about other options including potential new drugs, the VNS, and current research. He nixed the VNS. He said that their hospital used to be a facility that implemented and encouraged its use, but in recent times, he has steered away from inserting it. The success rate is not very high and there is no guarantee it will work for everyone. He also stated that with children as young as her, it is inserted into her belly instead of the chest region because it is a fairly large apparatus. So, no go on that.

He did mention a new device that is being tested and seems to have promising results. I think it has something to do with deep brain stimulation. The drugs we talked about (Rufinamide and Lyrica) were no-go's. Rufinamide was trialed in 1999 and failed (he was involved with the studies). Lyrica is just a version of Neurontin, I believe. He mentioned a drug that should be out next year that is similar to Topamax. I think he even called it "baby Topamax". I think it is one of the more promising drugs.

We go back to see him in 3 months, so we will reassess then. She still has her Keto clinic visit in February, but we probably won't make any changes. I really don't think I will do anything different unless he is the one to suggest something. He is much more versed in research and epilepsy than the other docs in the practice (or so I believe), so I put more stock in his directives.

As for Jade, she's finally coming back! Her seizures are improved, averaging around 4 in a 24-hour period. Much better than in the past. Her movements have come back full force too. I put her on the floor today and she was even rolling over and trying to put her head up again! Good to have you back baby J!

2 comments:

jenkrentler said...

There's that little fighter we all know and love....GO JADE!

Kirsten said...

So glad to hear Jade is feeling more like her normal self. We'll keep checking in and saying prayers. Miss you!

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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