Sunday, December 30, 2007

Sooooo tired !

She's still going strong and we're at a crossroads in terms of what meds we want to use or wean. We haven't used the Klonopin for two days now and she is a bit (just a bit) more alert and interactive. She's still seizing like crazy, but I just couldn't stand seeing her be so "droopy". I remember the Klonopin's side effects being the same over a year ago and I swore I would never add it to her drug regimen regularly again. Now, I know why. Giving it to her over the last week hasn't really made any difference in decreasing seizures anyway. We discussed giving her Diastat at bedtime tonight to see if it will help her sleep better and maybe have less seizures (and to potentially offer us some well needed rest). Once again, I am nervous to use it and might only give half the dose if given at all.

Poor thing is so constipated too. I think it's from the combination of sedating drugs and because of the increase to her diet ratio. I am pretty sure I will be looking at decreasing the ratio again to see if that helps relieve her. I can only stomach giving so many enemas...

Thanks to everyone for your posts. I'm glad people are reading the blog (should I be??!) :). Anyway, it also serves to guide me in decisions concerning her because I can barely remember yesterday, let alone two or three years ago. Thank god I chronicled her story on the other website ( ) when she first started seizing. It's made a difference in knowing which path to follow.

I also want to thank my dear friends from my Yahoo support group. Without their input, advice, general well wishes, and past experiences, I would be at the bottom of a deep deep pit. These women provide the hope and strength I so desperately need at times like this. Special thanks also to Leita who is such a guiding force in our group.

On a different note, our weekend was filled with fun and friends! Our nanny is now getting settled in and the kids are already torturing her! :) We had a great time last night catching up with our friends from North Carolina and the boys were breathing a big sigh of relief at the end of the Patriots game. (I, on the other hand, am shedding tears after today's embarrassing Steelers/Ravens loss...) :(

Pretty baby

Here are some pictures of Jade that are some of my favorites. It's hard to believe they were taken only a month or so ago.

Friday, December 28, 2007

Same old, same old

Nothing different today, except for even more seizures. I hope the antibiotic she is on helps in some way. If she's truly sick with some infection, it could be causing some of the increased activity. Her clusters are coming closer together and include both tonics and tonic-clonics. She stops breathing with the tonic seizures. If they get any longer than what they are now (10-15 seconds), she's going to end up in the hospital again, with oxygen.

If you're saying prayers for her, bump 'em up a little bit! She needs some serious help now...

Thursday, December 27, 2007

Let's see if we can bite off our tongue!

Well, the dreaded moment arrived this morning during yet another seizure (have I mentioned yet how much I REALLY REALLY HATE seizures?). No sooner did she start seizing when blood started pouring from her mouth. Naturally, my first inclination was that she bit off part of her tongue. After careful inspection (well, sort of - she wasn't too keen on opening up her mouth for me), it seems she somehow injured her bottom tooth and gum when she grinded down with the seizure. I'll try to check later to see if that's really the case. I guess it's a good thing she doesn't eat by mouth if she's going to be sustaining injuries like this.

Last night was another crappy night full of the monsters. I'm trying to take her off of the Phenytoin, so that doesn't help in curtailing them. She will probably just get more Klonopin through the day until that is out of her system. Drugs, drugs, and more drugs.

So, now we attempt a whirlwind cleaning of the house today in anticipation of our guests. The kids are excited but not happy they have to clean their rooms! B and I, though, are awaiting a much needed "Kay Day" (explanation later). It will be refreshing getting out of the house for a little while.

I'm sure I will have more to post later on...

Wednesday, December 26, 2007

December 26, 2007

Christmas was a hit! It went a lot better than I thougt it would. The kids were up at 5am! with instructions to not bother us until at least 7am. You know they were jumping on the bed the minute the clock struck 7!!! They had so many presents to open and they made out like bandits. Not a bad year from Santa... :) My favorite present was the new car I got! Can't beat that, I suppose :) :) :)

I took Jade to the doctor today to have a look at her thumb. The doc was on vacation, so his nurse practitioner filled in for him. She thinks it looks like it could be a little infected and prescribed amoxicillan. Jade was also coughing a great deal the night before, so I had her look at her ears, nose and throat. She's got runoff down her throat and some stuffiness in the nose, so hopefully the antibiotic will kill two birds with one stone. I swear, ever since she started taking the Dilantin and the Zonegran, she's got poop-breath! It's either one of these meds or the nasal infection. Poor girl doesn't eat anything by mouth, so she should have rose smelling saliva!

She's still having a lot of seizure activity. If it turns out she isn't feeling well and the antibiotic kicks whatever it is in the butt, hopefully the seizures will back down a little. Time will tell.

We're in for a very busy weekend. We're putting up friends of ours who now live in North Carolina. It's great being able to catch up with people we don't get to see often. Next weekend, we have the pleasure of having their uncle for company! The kids will be quite stoked to show off all of their toys to him!

Time to turn in for yet another tumultous night. Thank god for COFFEE!

Monday, December 24, 2007

December 24, 2007

Last night was a full night of seizure activity again. Today wasn't much better. Just as she started having one of her tonic seizures, she put her thumb in her mouth. I thought for sure she was going to bite it off or do some serious damage. I tried to pry her mouth open or at the very least put my finger between her teeth to keep her from clamping down even more than she was. No such luck. Fortunately, the seizure was relatively brief (never brief enough for me) and I grabbed her hand to keep her from doing it again. She did break skin and bruised it, but I don't think she did too much more than that. I iced it and then put Neosporin and a bandage over it afterwards. Thank god I had an arm brace from a previous hospital stay to keep her from doing it again. Looks like this will be a permanent part of her wardrobe now. I ordered a custom arm brace from a company online ( ), and I really hope it works for her.

So, the relaxing Christmas Eve I was hoping for wasn't very relaxing at all. I'm exhausted from being up many times during the night with each seizure she has and from the emotional stress of the whole situation. This pretty much sucks!

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!

July 2007


Things still pretty much remain the same with Jade. She has increased seizure activity with illness or stress. Otherwise, the daily seizures are mostly myoclonic or staring/absence/eye deviations. Not a day goes by without some sort of seizure. She is rolling back and forth and onto her belly again. She stopped doing this after the g-tube placement due to the discomfort. We finally found that the AMT mini-button works the best for her and now she doesn't seem to mind being on her belly again.

I hope that other parents who read stories on this site take note of her mutation, as it is very uncommon. For those who have children (primarily girls) with no diagnosis, consider having her tested if she meets the criteria for Rett Syndrome-like behaviors. The most prominent feature of CDKL5 is early seizure activity and Infantile Spasms. Also, hand mouthing/wringing and teeth grinding are warning signs. I have had at least one parent contact me after reading Jade's story and finding out their child had this diagnosis. We have a group on Yahoo (CDKL5) and the comraderie is beneficial to all of us.

January 2007


Not much has changed with Jade's progress. At the neuro's suggestion, Jade underwent a Nissan fundo and g-tube placement. She is doing much better overall, but still seizing daily. Whether it's the drug reduction or Keto diet, the number of seizures has dropped for the most part. She is currently on no seizure meds and solely on the diet. She's still thriving and growing healthily. We keep our fingers crossed every day that she will improve over time. She even has bouts of laughter now and then and the occassional smile for us :)

July 2006


After what seemed like eternity, we finally received word that Jade has a genetic mutation. She falls under a RTT-variant (Rett Syndrome), CDKL5 mutation. We meet with the geneticist and neuro staff this week to get the lowdown.

They also told us that Jade is the second documented case in the world with this particular mutation (R178W). It, unfortunately, means that we will not have a lot of hard core information to assess her future prognosis. It seems rather bleak given the handful of information on CDKL5 disorders (only a dozen or so recorded cases). She'll be one for the books...

June 2006


A lot has happened, but in a nutshell: she's still on the diet at a 4:1 ratio as of mid-May, still on Keppra (125mg bid), Klonopin (.5mg am and .625 pm), Prevacid (15mg bid), and her dietary supplements. We got rid of the Topamax in mid-May. I dare say that by getting rid of that, we possibly brought back increased seizure activity. But, I refuse to use it again. She seemed to "wake up" so much more off of it that it's hard to justify putting her back on it.

She is still unable to walk, talk, sit unsupported, or do pretty much anything independently. She still does not smile, laugh or make eye contact. Thus....we are having her tested for Rett Syndrome. She exhibits a lot of signs of the disorder (i.e. hand mouthing constantly, does not like her hands/arms being manipulated or touched, seizures, non-verbal, teeth grinding, no eye contact, no smiling or emotions, high pain threshhold). We are also testing her for MAE (myoclonic-astatic epilepsy or Doose Syndrome), and SMEI (severe myoclonus of early infancy). She recently had a week long VEEG becuase she was exhibiting what appeared to be seizure activity (tonic posturing briefly with head turn to one side, either right arm/leg raised and lowered, raised and lowered - or vice versa on left side, eye deviations, staring spells, mouth open, tongue out, and teeth grinding). She had no less than 20-30 of these episodes caught on video during her monitoring. None of them showed epileptic activity, with the exception of 1-2 brief (10 seconds or less) actual seizures (eye deviations). I am completely thrown for a loop and we are thinking that these new "seizures" are either self-stimulation or the seizures are buried so deep in her brain the EEG does not pick them up. And, to top if off, he said her EEG indicated at least a 60% reduction in seizure activity since her last VEEG (July '05, I believe). Kudos either to the diet or Keppra!

Regardless, we are now trying to take her off of her Klonopin. I started the other day with only an 1/8th of a tab drop in the pm, and have noticed some increased activity already. I'm still going to push the wean because I absolutely hate the stuff and it isn't doing much for her anyway. Hope she weathers it well and we won't need to take any drastic measures.

So, for now, we wait for the bloodwork to come back and go from there. She's currently having daily clusters of myoclonic jerks or head drops followed by these odd posturings. The big ones occur between 4-7 times a day and are 2-3 minutes each. The little ones happen all day long and it's hard to keep track. Those that I am able to record usually total around 10-20 per day.
If anyone else has similar experiences with Rett, MAE, or SMEI, please email me. It's hard finding info from other parents on these disorders since they are not as common in the general population. If it's none of these, great. But, also, if it isn't one of these, then what the heck is going on????

February 2006


We're doing fairly well on the Keto diet and wished we could have started it sooner. We began the Topamax wean and should be done with it in May. I'm cautiously weaning a tad of her Klonopin in the meantime, too, but will wait for the Topamax to be done before going all out on that evil drug!

She's doing a little better, esp this week. I've noticed that she seems to be taking a little more of an interest in her surroundings. She also seems stronger and now prefers to be on her belly trying to "move"! She has a bit more head control, so I'm keeping my fingers crossed... I keep thinking that if she weren't on all these horrible drugs, she might have a chance at developing.

January 2006


Aside from an ear infection last week, she seems to be doing okay. The diet seems to have helped somewhat, but I'm still "cautiously optimistic". Her reflux has improved while on Prevacid, but her drinking hasn't. I still refuse to go the g-tube route and so continue with speech therapy for drinking solutions. It seems that the days her seizures and reflux are good, so is her drinking.

She's still not sitting on her own, but did manage to support herself in a sitting position at therapy for 1 1/2 minutes - a record indeed!

She did laugh the day after I wrote my last update and it was a bittersweet gift. I can never tell if her belly laughs are seizures or genuine.

December 2005

December 21, 2005

Since the start of the Keto diet, Jade's strength has improved and she is now holding her head up for longer periods of time. The downside is that this week, she's having a lot of drop, absence and staring seizures, which may be due to teething. It's starting to wear on her and I'm praying she doesn't regress with the frequency. She was doing pretty well for a few months, so hopefully she'll weather this storm and get back on track soon. We began a Topamax wean a couple of weeks ago, but I don't think this is the problem. I am pretty tired of fighting this horrible monster inside her head!

On a good note, we got her wheelchair this week! Much easier to transport her now. We're also constructing her bedroom into a multi-sensory room and she's getting a lot of really neat things for Christmas to decorate it.

She's a real trooper! At this point, all I want for Christmas is to see her smile and hear her laugh. Anyone else in the same boat?

November 2005

November 17, 2005

We started the Keto diet on Oct. 31. She had also started Keppra on Oct. 13 and has done marvelous with this drug (for now). I have only witnessed a handful of "bigger" seizures and have difficulty pinpointing her daily seizure activity (staring, some isolated myoclonic jerks). Doc thinks she's on the road to a diagnosis of Lennox-Gastaut (figures). She's still assessed at a 1-3 month level developmentally. Wonder how she'd really be without all those nasty drugs...? Also still refluxing quite a bit, esp. on the diet. Nothing like smelling Keto vomit all day long. :)

September 2005

Sept. 2005

Jade continues to have spasms after weaning from the ACTH. She was averaging around 50-75 per day, and has just recently had fewer (around 20-30). She's on Topamax (45 mg sprinkles bid) and Klonopin (.5 mg tab bid). No other seizures in weeks though! Still can't figure out why she's still having spasms. Our next step is for a possible muscle biopsy in October...

August 2005

August 30, 2005

We finally finished up our last dose of the ACTH on Saturday, 8/27. She had several episodes of clonic seizures last week which merited an abrupt return to the doc. He upped her Topamax and Klonopin, again. This got rid of the large seizures, but I dare say it looks like her spasms are beginning to return. Several times a day, she has moments where her eyes flick upward briefly and she throws her arms up at the same time. Needless to say, I am completely devastated that the IS is returning and can't bear another regimen of ACTH. Another trip to the doc is in order again this week...

She is also finally returning to PT and has been labeled with athetoid movement. I am just now trying to come to terms with the fact that she may be wheelchair bound the rest of her life and may also need a speech device. Her next MRI is in four months. Perhaps something will show up then...

July 2005


After beginning Vigabatrin wean, the spasms came back full force. Don't know what to make of things now and the doc refuses to up her ACTH dosage. She's now on Trileptal too, but who knows how effective it will be. On a good note, though, she is rolling both ways (right side preferred) and seems to want to try to crawl, but for her right arm getting stuck down at her side or underneath her belly.

July 26, 2005

It seems the 80 units did the trick to get rid of the spasms. She was at 80 for two weeks and we started her wean last Saturday. I can't wait to get her off of this stuff. She has gained so much weight and is so puffy. They had such a hard time trying to get an IV started in her at the hospital because she's so swollen, they ended up putting a PICC line in (small incision in the arm at the inside elbow with line going up through to above the heart). She went through a lot while she was in there. We were admitted Tuesday and left Friday. She had another MRI, a 4 day VEEG, and Ictal and Inter-ictal SPECT scans. It seemed she had almost every type of seizure while she was in there too. It was pretty frightening and confusing to watch her. We weaned her completely from the Vigabatrin, which may explain some of the new seizures. We were discharged with her being put on a higher dose of Klonopin, Topamax sprinkles, and of course the ACTH. She is so drugged up that she doesn't open her eyes much at all during the day. The Klonopin just wears her out and the ACTH has done its wonders too. The high dose of Klonopin is to try to keep away the grand mal seizures she has begun having. Most of her seizures resemble staring episodes. She will look straight up, left or right, or her eyes will dart back and forth. The rest of her body usually goes limp, but sometimes her arms and legs will shake or she will extend her arms out during the seizure. They usually last from 3-5 minutes with the tonic-clonics around the three minute mark. We go back to our NEW, WONDERFUL DOCTOR!!! on August 11th for a recheck. He seems to think her seizures are originating from the occiptal lobes. The MRI sort of indicated a thickening in the left occipital area, and a possible myelination issue in the right (if I remember correctly). So, his thinking is that it's either a delayed myelination or cortical dysplasia. Thankfully, there are no structural abnormalities. Hopefully, the SPECT scans and VEEG will help isolate things even more. I have a feeling though that her seizures are widespread and involve both hemispheres. We're not ruling out surgery just yet, but I wouldn't be surprised if she isn't a candidate. We'll try the Topamax and move on to the the Ketogenic Diet around one year of age (9/24) if necessary. We did see ophthamologists while we were there. He said the same thing the other two docs did: CVI. But, he feels that once she gains seizure control, her vision will improve vastly.

June 2005


My daughter, Jade, has had intractable epilepsy since 3 1/2 mos. of age. We even think she had a seizure her second day of life while in the hospital. It's been an uphill battle trying to figure out what's wrong with Jade. Preliminary findings indicate that her MRI is normal (with a small blood vessel abnormality of no reported significance), CT normal, metabolic and genetic workup normal, but seizure activity is right hemisphere predominant and not localized. They noted an early pre-hypsarrhythmic pattern over her right hemisphere (infantile spasms) and they only suspect that she is a surgical candidate at this point. She had a PET scan and her results are perplexing. Unfortunately, she's not a surgical candidate. We are now in the care of a geneticist again, but I don't even know what she will find. I have the hardest time dealing with the eternal waiting game looking for answers, especially for one that may never surface.

On a positive note, Jade has been seizure-free for 2 weeks on her current regimen of Vigabatrin. I do still hold onto the thinking that it's a temporary reprieve since 1) it's a short term prescription, and 2) from what I understand, almost all drugs have their "honeymoon" periods. I'll take what I can get for now though! She has improved ever so slightly physically and her eye problem is improving. I can only hope her eye impairment will resolve on its own or through therapy/surgery. CVI is difficult to overcome and especially so when coupled with seizure activity. Guess time will tell!

Jade has already been on Pheno, Tegretol, Topamax, Lamictal, and is now on Vigabatrin and Klonopin (currently, we're weaning her from the Klonopin, but I've now noticed more aggravated movements) daily. She is developmentally behind in all areas (i.e. does not hold her head up well, does not reach or grab for things, does not focus or track objects, does not sit up without support - to name a few...). Seems the docs do not know what to make of Jade's test results since they all appear normal. Perhaps it's such a microscopic lesion that it may never show up. She also has motor deficiencies (she is in constant state of motion, especially with her legs) too often. Also of great concern to me is that Jade rarely cries, smiles (if so, it may be reflexive) or laughs. No doctor has an answer for me about these questions either. Nothing like giving a series of vaccinations and not hearing your child scream, or digging for a vein to insert an IV without hearing a peep from her. I'm worried that she will never register emotions... On a good note, she did actually cry today, just a little (when she spit up through her nose). My need for a ray of sunshine is great. I have not read much promising material about Infantile Spasms and am doing my best to hold onto what little optimism is left. Whatever went wrong with Jade has been devastating to her development.


Jade is beginning to have the spasm part of Infantile Spasms. She stopped having her "big" seizures a couple/three weeks ago, but for the past 1-2 weeks has begun having startle spasms. The number of them are growing daily. So....the doctor is upping her Vig to the max limit (500mg 3x per day) in the hope that it will banish them. If not, on to ACTH.


We began ACTH injections, 40 units once per day. Spasms began decreasing in number and frequency after third day.

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