Sunday, January 27, 2008

Let the building begin!

Here's a short video of one of the trucks taking down a giant tree on our lot. It's pretty amazing how accurate the driver is when falling the tree! For those of you who are epa fanatics, the downed trees will be put to good use and there will be others planted in their place when the house is built. A good portion of the wood will be used as mulch, some as building material, and some as firewood. It's all good! Enjoy the show :)

J's doing well. She is having less seizure activity and a good portion of her days go by without much noticeable activity. If she does have one, it's generally toward bedtime or between 10pm-12am. I'm keeping my fingers crossed the good luck continues. I think this time, the combination of the new meds coupled with the diet increase may have helped. We'll see how long she can hold out!

Wednesday, January 23, 2008

The long awaited building permit

I shouldn't write this yet, but, what the heck! We should be getting our permit to build our house today!!! After almost a year of planning and going through the permitting process, we can finally break ground. We haven't "officially" gotten the permit, but all that needs to be done today is for the city office staff to make their copies and for us to pay the fees. It was an eternal wait and I'm sure now the eternal wait lies in building it. We hope to be in by Christmas...

As for lil J, she's been having more seizures - again. Not as bad as over Christmas, but stronger than last week. Another UTI brewing, a cold coming on, the nature of the beast? Who knows. Just as we get used to things, she changes it all around again. I'm just praying it won't get worse. Maybe today will be a better day?

Her thumb injury has almost healed with the exception of the nail. It's beginning to peel off completely. Can we say, EWWWW?! So gross. She now has either the thumb guard on all day or the arm brace since she's been trying to put her thumb in her mouth again. God knows I would hate for her to be mouthing it and peel it off on her own. Once again, EWWW!

Thanks everyone for keeping up to date on her blog. Your comments and positive input are refreshing. I hope everyone is doing well.

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!

Wednesday, January 16, 2008

Day by day

I was made aware of the fact that I haven't posted anything more since Friday. No news is good news, right? I hesitated posting because I didn't want to jinx anything!

Actually, things have been pretty much the same with her. We watched her bilirubin levels over the weekend and did a blood draw on Monday for liver function and cbc. Both came back normal. The true test will be after today, when her Bactrim script is done. She's still doing fairly well with her seizures (knock on wood), so hopefully things will remain static for a while. We changed her diet to RCF (a carb-free soy formula) instead of the KetoCal, so it remains to be seen whether this has any direct influence on her seizures.

Tomorrow is our trip to see the neurologist. I hope it is a good visit and we come away relieved instead of aggravated. Naturally, her seizures are decent, so there isn't much to report or discuss with him right now. I'm sure she'll wait until after our clinic visit to go downhill again. She's a bit animated today. It may be because her last seizure was around 3pm yesterday afternoon. I don't think she seized during the night or else I was so completely zonked from exhaustion that I didn't hear her. She may be working on a cluster soon, though.

We bought her a net swing and she absolutely loves it! We put music on for her and the kids like taking turns pushing her. Her best friend, Glo Bear, sits with her in the swing so she has something interesting to look at!

A good piece of information I came across today was that one of the American Idol contestants has a girl with Rett Syndrome. Our Rett parent board was full of excitement because this is a major publicity announcement that Rett Syndrome has so desperately needed forever. You can watch the girl's (Angela Martin) interview clip where they show her daughter. It gives me chills just thinking about it. I am not a fan of American Idol at all, but I may watch the next time she is on in case it is a voting episode. The Rett community needs her to win in order to gain more exposure. So, any of you who are or are not fans, be sure to watch future episodes and place your vote for Angela. It may indirectly help Jade someday...

For those of you up North, please keep me posted about K&C's baby. Hearing about another infant, especially a relative, having seizures at the age of three weeks is frightening to me. If any of you have any further information, please email me privately. Please also give them my best.

Friday, January 11, 2008

A few good days

I can't really call it a lucky streak because she's still having seizures, but at least she's not having as many clusters. Yesterday she had one cluster after going a solid 11 hours without having ANY noticeable seizure activity. Quite a difference from just four days ago. I still attribute it to the Bactrim. One of the other mothers swears by antibiotics (I think in particular the Bactrim) as being a seizure reducer. And her kids are as severe as Jade. We think it has something to do with the sulfa ingredient in it. Her new med, Zonegran, is a sulfa drug too. Since she started the Zonegran, I haven't seen any real staring spells or myoclonic seizures. As of the last two days, she's had around 1-2 clusters (one severe) and either individual tonic or tonic-clonic seizures lasting around 15-20 seconds each. Her movement (athetosis) has stopped too. Too much of a coincidence if you ask me.

The only other concern I have at the moment is that her urine stick showed high levels of bilirubin. From what I gather, the sulfa drugs can cause this reaction. I'm waiting for another wet cotton ball to see what results it will show. That's when I call the pediatrician again to pick his brain.

Thursday, January 10, 2008

Things that make you go hmmmm....

Our favorite doc called yesterday (our pediatrician), and gave us the results of the urine culture. Thankfully, it didn't indicate a UTI. However, a couple of things were a bit questionable. The test yielded out of range results for Hyaline Casts (0-5 range), low ketones (1+), and a high ph level (8.5). It could mean nothing, or it could mean something. Whatever the case, we're keeping her on the antibiotic (Bactrim), because.....

She didn't have a seizure yesterday for over 8 hours!!!!!!!!!!!!!! (break out the champagne, kids!) I'm pretty sure her last seizure during the night was sometime shortly before 5am, and then she went from then until 1:30pm before having a cluster. Pretty amazing, huh?! Naturally, we were on pins and needles just waiting for the ball to drop.

I didn't post about this breakthrough yesterday because I didn't want to jinx her good fortune. See, the only thing I can really correlate with the seizure break is the Bactrim. She started the med on Monday and had a slightly better night that night. Tuesday overnight, she had even fewer seizures (she went 4 hours without one). And last night, well, her 10:30pm seizure was a doozey, but during the night, I think she had two. Now, it's almost 8am and any other morning she would have been seizing like a madwoman every half hour. Fingers and toes crossed, knock on wood, saying the Hail Mary. Whatever it takes!

Darnit! I knew as soon as I wrote it, she would have seizures. She just had one at 8am. At least it wasn't a cluster.

Ok, so I called the dietician yesterday to give her the lab results. Naturally, she had never heard of hyaline casts or high ph levels. I faxed her the report to give to the neurologist for an opinion. I also left a message with the pediatric renal clinic to see if they can offer any guidance. Neither have called back yet. Of course I will be bugging someone until I get an answer.

Tuesday, January 8, 2008

That's a lot of seizures!

In the early hours of dawn this morning, after being awakened by yet another round of seizure activity, I somehow managed to work around my fuzzy brain to calculate how many seizures she actually has in one day. It's kind of like the Jelly Bean game. Step right up folks and guess how many jelly beans are in this jar! Okay, it's not as fun as that, but I'm willing to bet nobody reading this blog would think she has over a hundred seizures every day. It's even hard for me to fathom.

I've read other blogs and other group web sites where parents state their child is having hundreds of seizures per day. It always amazed me how the brain can withstand so much force. I told B the other night that I don't know how much longer her little body can fight these seizures since they tire her out so profoundly. I tried to make a pact with Jade that she has to fight because Mommy needs her to fight. We have to show up those pessimistic doctors! (whom, by the way, have not called yet...)

Monday, January 7, 2008

Back from the pediatrician

After having a catheter inserted (ouch), her sample will be sent off to the lab to grow a culture in the next 48 hours. In the meantime, she will be taking Bactrim (antibiotic) just in case. I have a feeling the culture will yield nothing, but it sure would be nice to blame these seizures on something! I tested another pee stick after this morning's first diaper, and there were no indications of nitrites. Chalk it up to our mystery girl! (or to a contaminated cotton ball). I'm glad he cathed her in his office instead of sending us to the clinic.

Round Table day

Today is the day the docs are supposed to discuss Jade to decide what course of action (if any) we need to take with her. I sat down last night and sent an email to Jade's dietician outlining everything pertinent to what she's going through. I really think if she didn't have the dietician looking out for her, we would be ignored even more. I put a plea in the email for the most knowledgeable neuro (and Jade's original doc) to consider other options. He is the only doc of the three she sees to have the most credentials and experience with difficult kids like Jade.

It frustrates me when we don't have the option of using him every time we go to clinic or to the hospital. The other two docs are great and highly capable, but their not Dr. C!

I have no idea how many days I will have to wait until I hear from someone on their staff. It's not like there are many choices for us to decide from.

So, this morning, I am taking her to see the pediatrician. He's finally back from vacation. Yay! She still has some sort of congestion and I suspect she may possibly have a UTI. Her pee stick showed, and has been showing, large leukocytes and today it came up pink on nitrites. I'll pick his brain about these things. Wish us luck in not having to go to Urgent Care again!

Saturday, January 5, 2008

One more thing...

Okay, I lied. I did more than put that post in. Please look to the right and click on Jade's friends' blogs. Our little Yahoo group is becoming more computer literate and we are doing our best to spread the word! I will keep linking her friends personal sites as they are created.

Much love to all. We miss every one of you in the Arctic Tundra!


All I want to say today is:


Tune in tomorrow for a review with tears or cheers :)

Friday, January 4, 2008

Brrrr! It's cold out there.

I know, I know. You can all laugh at me for complaining about the "cold" weather! Hey, when it's 50 degrees during the day in Florida, it's no laughing matter! We had to cover our plants :) Seriously, I'm sitting here wrapped in my big fluffy robe because I'm freezing. So much for growing up in the Arctic Tundra up north! I'm officially a Floridian.

I wish I had something different, yet good, to post about Jade. She's not gotten any better with our new drug concoction, just sleepier and more constipated. Just call me the enema queen! I made a diet adjustment to see if that might help. I lowered her diet ratio, because that's one of the hundreds of reasons she's backed up. I'm sure I will get reprimanded by her dietician. Such is life. All the increased Klonopin has done was dope her up more. It may have lessened the intensity of some of her clusters, but not what our dear docs think it should have done. Now, I'm waiting for the dietician to call to answer a few questions. Tick tock, tick tock.

Our little drool bunny still has her tooth. She's just managed to push it far out and make it really loose in a back and forth motion. Not in a "let's pull it out" way. I think she's managed to make it so she doesn't bear down on it as much as she was. Knock on wood...

She's still seizing quite regularly through the night. I don't get up anymore with each seizure. I physically can't do it. I just pray that she makes it through each night no worse than the last. What bugs me most about her current dilemma is her lack of any sort of activity whatsoever. For those of you who know her and have met her, you know how much of a wiggler she was. She doesn't move, period. That's how powerful the drugs are, and that's how severe the seizures are (they drain her of energy). We're waiting for her to power through this bad cycle and wake up again. The last time she was like this, it took putting her on the Keto diet and removing the Topamax and Klonopin from her drug regime. I decided yesterday that I may start moving backwards in her treatment to get back to where she used to be. Her seizures were bad then, but nothing like right now. Maybe if we revisit the past and her better days, we'll come up with a solution??? I'm fresh out of other ideas if anyone has any suggestions!

Wednesday, January 2, 2008

Loose tooth

Today was a typical day, for the most part. With every seizure, though, she is grinding her bottom tooth even more out of place. I suspect within the week she will need one of us to pull it (not my cuppa tea, ya know!). I'm going to have to bring in the troops for that task. We've taken to breaking out the gauze with seizures to stem the blood flow from her gum. Icky!

The kids continue to terrorize the house. T and I had a nice lunch together today and did a little shopping too. We also played some more games. I let them all win, just so all of you know I'm not a poor sport! That's what Christmas break is about, right?! E went to a Girl Scout Cookie Rally, which turned out to be pretty lame. No matter, as we are now into Girl Scout cookie season. Get your pens and checkbooks ready! It's cookie time!!!

Tuesday, January 1, 2008

My little druggie

So, I called the neuro group yesterday on the off-chance that I could pick their brains about curtailing the seizures again (even though I knew what they would tell me). Nervous Nelly that I am, if I feel that she needs Diastat (which we gave her two nights ago), something more needs to be done to alleviate the severity of her clusters. They put the middle man (the staff nurse) on the phone to do their dirty work. Nice lady, but 100% clueless about Jade's situation. After four separate phone conversations with her (grrrr! ), trying to get the simplest answers from them, this was the doctor's directive: dope her up. The much hated drug Klonopin (a benzodiazapene), was their suggestion. I didn't think it helped much before, but my biggest hesitation for not using it is because it really makes her lifeless (and constipated). I knew there wasn't much else to do, so we started the higher dose yesterday. Today, she is a rag doll again. I also had to give her another enema because she has no desire to "move" or interact in any other way. I hope she's at least a little more comfortable now. She slept a little better last night, but I imagine having a seizure cluster last for a solid hour (from 8-9pm), anyone would sleep well. She clustered again for an hour from 4-5am, and then again from 8-9am. Gee, I'm glad she has Klonopin...! (yeah, I'm a little cynical)

We were also privileged enough to visit the Urgent Care to have a look at her ears, nose, and throat, and to listen to her chest. She developed a wet cough during the night, and the nurse from neuro suggested we have her looked at to make sure it wasn't serious. So, we trekked to the clinic and sat, and sat, and sat. It took over an hour to see the dr./nurse, only to have them give her an essential "clean bill of health". We think maybe the excess saliva from the benzos is getting caught in her throat, causing the wet cough. They sent us away with a script for a suction machine and a Happy New Year. Whatever.

As for the other two kids, they are unbelievably bored!! Unreal to me since I think they scored every toy on this earth for Christmas. We did play some pretty fun games, though. T and I pulled out Electronic Battleship (one of my childhood faves), and played until he got bored. I almost won, too :( Now, they are on to another activity.

To whomever reads this blog, thank you. Happy New Year too! May this new year be rather uneventful and healthier for my little angel.

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