Monday, June 30, 2008

Some video links of other CDKL5 kids

If anyone is interested in seeing other CDKL5 children, click on the links off to the right under Jade's CDKL5 friends. To me, it is pretty amazing seeing the resemblances between the children and Jade. But, I am also amazed at how incredibly beautiful all of our children are! Keep checking back because more parents will be posting videos of their children.

J's doing okay. More tummy trouble again for some strange reason (lots and lots of air in her belly). No rhyme or reason except a full moon and many large storms moving through the area!


Saturday, June 28, 2008

Test results and a video!

Her tests went well, after much trepidation on our part. She weathered the endoscopy and accompanying anesthesia great, and the doc gave us pictures of her clean looking tummy! No ulcers, irritations, g-tube balloon looked good and in place, and the Nissan was intact. The upper GI went much quicker than I expected - about 15 minutes. It showed no reflux and the Nissan looked great on that too!

We will just continue using Prevacid for potential reflux. It is the only thing we've added since her seizure activity started acting up and now she is doing much better overall. Sleeping better, and seizures are way down (of course that might be changing at the moment - watch the video). For those of you who know her well, the cute laughter you see is usually an indicator of not so good things to come :(  But, it's nice to see her smile nonetheless!

I hope you enjoy the video!


video

Wednesday, June 25, 2008

One test down, one to go

We had a very early start this morning - 5am!! We had to have her at the hospital by 6. I think I officially fell asleep around 3:30 this morning.

Anyway, they performed the endoscopy and took a few biopsies. The doc showed us pictures of her "insides", and it seems all looks well. We should know the results of the biopsies next week.

Tomorrow is her upper GI. Hopefully, it won't take too long and those results will be normal too. We should be able to leave here mid to late morning since that test is around 8:30am. It will be nice to get back home again and back in our routine...

I'll post again after tomorrow's test!

Thursday, June 19, 2008

GI schedule

Here are a couple of photos of our "Lego" walls.
It is really interesting watching them put this
unique system together!


Instead of her having tests this week, they scheduled her next Wednesday and Thursday for the two-part series. Wish us luck!

Monday, June 16, 2008

Check out these new pictures!




We made a desperate attempt to get a good, updated picture of the three kids together. These three were our favorites :)














Saturday, June 14, 2008

Back to Shands

After speaking with Jade's dietician, it was decided that she needed to see GI in clinic. So, the nurse managed to get us an appointment yesterday. Since we are not sure what could or could not be going on with her, the GI doc decided to schedule and upper endoscopy and an upper GI to see if anything is wrong. I'm still wavering about whether these tests are absolutely necessary, but by doing them, at least we know where GI stands. I mostly hesitate because they are a pain in the butt to all of us. The endoscopy requires that she be put under anesthesia, and the upper GI requires that she remain still for a couple of hours until the dye runs its course. Ugh!

So, we are tentatively scheduled for Wednesday for the endoscopy and not sure about the upper GI. We are shooting for Thursday since we are already up there. However, if they find something on the endoscopy, then maybe we won't need the upper GI.

The GI doc is also checking with cardiology to see whether she can take erythromycin to aid digestion. I hope he remembers to do that! Maybe it will quell reflux if she is having problems with that right now.

She continues to be extremely fatigued. We've also been noticing some blood around her g-tube site. Some kind of irritation must be happening. She also fights us when we feed her and I feel so bad. There has been brown backwash coming out of her tube when we vent her, which usually indicates old blood, or so I've heard. The seizures are about the same, with a few less each day. But, each day is always different! I started her on Prevacid almost a week ago. Once again, I can't tell whether it is making any difference, so I will give it another week. As for the fatigue, could it be the hotter weather (even though she's not outside much), the increased seizure activity, the low glucose levels indicated on her labs (they are consistently low due to the diet), or has she got something else going on? I can consult with every specialist under the sun, but no matter what we think, we never know because she can't tell us!

And, oh yeah! It seems there are now around 41 worldwide documented cases of CDKL5. The numbers are growing and our little Yahoo group is getting to where it's hard to remember who's who!

Saturday, June 7, 2008

Tummy troubles are not our friend



We made the trek to Shands from Monday to Wednesday. She had all of the routine labs drawn, and they hooked up her "skull cap" (the EEG wires on her head). This time around, I could tell she was REALLY irritated by the wires. I have no doubt they left her head feeling itchy all day and night.





As usual, she performed well for the cameras.



We also managed to get a consult arranged with the GI doc. I have been very concerned about the amount of gagging and vomiting she has been doing with each seizure. One of my greatest fears is her aspirating and it developing into pneumonia. We discussed everything under the sun and decided we should begin testing to rule out any major GI issues. I think the first test will be an upper GI (to look for obstructions). If that test is normal, then they move on to a motility study. Depending on those results, we may try the antibiotic erythromycin (to help facilitate digestion), or move on to another test. We need to rule out any potential obstructions and make sure her Nissen is still intact. She seems to be refluxing more and it's either the diet getting to her or something else. Whatever the case, IT'S STRESSING ME OUT!!! Today, she had another gagging/vomiting episode. To rule out g-tube issues, I changed her current, fairly new AMT mini-button, to the Mic-Key g-tube she used in the past. We'll see if that produces any positive results. The only thing I can really say for certain is that it seems the tube is getting blocked internally by mucous, which in turn causes the vomiting and gagging. It does not, however, explain the extra seizure activity. :( She takes Zyrtec daily for possible allergies, so I can't say for sure if that is the cause. It is probably more likely the high amounts of oil she is provided with at each meal.

I'm definitely not in any rush to go back up there, but I am a bit irritated with the GI clinic for not calling with the scheduled tests. Whenever we go, cross your fingers and toes we figure something out!

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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