Vagus Nerve Stimulator

Rayleigh Bug is scheduled for surgery at the end of this month. The surgery will be to implant the Vagus Nerve Stimulator (VNS). This is an outpatient proceedure, surgery will be at 7:15am and we will be home that afternoon (unless there are any complications, which is unlikely). The surgery takes 2 hours and she will definitely be under anesthesia.

The best way I can describe the VNS therapy is that it works similar to a pace maker except it sends regulated pulses onto her nervous system. The little battery pack is put under her skin on her left side below her collarbone, near her armpit. The surgeon will also make a small incision on the left side of Bug's neck and this will be where she will attach the lead, a small, flexible wire, onto Bug's vagus nerve and feed that wire down to connect to the battery.

Rayleigh's surgeon is a pediatric neurosurgeon, but this is NOT brain surgery.

So the idea is that the VNS sends regular pulses at timed intervals through the vagus nerve to the brain to help prevent the electrical irregularities that cause seizures. Bug's epileptologist will use a large wand and keypad to regulate the pulses. At first it will most likely be set to just a few pulses once an hour, a non-theraputic dose just so her body can adjust to having this new thing inside and controlling things. Then we will visit the epileptologist every 2 weeks to slowly make adjustments so that it will send pulses more frequently. Later, we will only have to see him every few months for adjustments.

The doctors have brought up the VNS therapy at a few different appointments but it was always an option for further down the road. But at her last epileptologist visit he asked us to look into and get more information so he put us in touch with a nurse at Cyberonics (the VNS company) she mailed us easy-to-comprehend pamphlets and talked on the phone with us for an hour answering any questions about the VNS. She then ran the surgery through insurance and set up our surgical consultation to gather further information.

By the time our surgical consultation was here (only 2 weeks later!) we had already read the booklets and I had talked with other CDKL5 families about their experience with VNS. The overall consensus is that at worst, the VNS did nothing. I have not heard any negative side effect stories about the VNS therapy so we thought, if it's not going to hurt her then we might as well try it to help her!

Most of the CDKL5 family stories I have read are that the VNS helps with some seizure control but the biggest benefit seems to be awareness and development. Like the VNS is regulating enough brain activity to maintain some learning during her PT or something! So even if all we gain from the VNS is better focus or she learns to sit (she's getting closer again!) then it will be worth it in our eyes.

OH, I forgot one of the biggest benefits of the VNS!!!!!
We will be given a VNS Therapy magnet.

So let's say Rayleigh's pulses are set to a few every 40 minutes. Well, it's possible for her to have an electrical misfire between that 40 minutes and go into a seizure. That's where the magnet comes in. We can wave the magnet over the VNS battery and it will immediately send a pulse to the nerve to the brain.

Here's an excerpt from one of the VNS booklets that Cyberonics mailed us:
"By swiping the VNS Therapy magnet over the generator when you feel a seizure coming on or during a seizure, you or your caregiver will be able to

• stop your seizure
• shorter your seizure
• decrease the intensity of your seizure
• improve the recovery period of your seizure"

The nurse also told us that the VNS magnet swiping has been wonderful for clusters of seizures. Rayleigh often has clusters at night, only 5-10 minutes apart. So, by swiping the magnet on the first seizure the nurse says we stand a good chance at preventing any of the following cluster seizures. That alone would be huge for her number of daily seizures!

So to wrap up this post, I'll finish up with some short bits of info:

• The VNS will take about a year to show full effects.
• The effects typically do not wear off, in fact they can get better with time
• She will continue taking her seizure control medicines, some patients were able to lower the doses over time
• The battery lasts 5-7 years, when it gets close to going out the surgeon will replace the battery (only one incision, new battery will connect to same lead)
• The epileptologist will be able to check the battery life when we see him for pulse adjustments
• A common dose of stimulation is 30 seconds of pulses every 5 minutes

Sorry it took me so long to do this post, we've all 3 been down and out with a nasty cold! Thankfully we're all getting better and should be healthy for Thanksgiving!!

Happy Turkey Day, y'all!

Just to Catch You Up

Family members have been calling to check on Bug and have told me that they noticed I haven't updated the blog in a while and they were just making sure everything is ok. I'm sorry I haven't posted in a while. It's just that nothing really big has happened since my last post... or maybe too many things are on my mind and I'm not sure how to put it all into words.

Either way, this will be a quick post (mostly because it's after midnight, I've been working on my CutieBug party decorations since Bug went to bed and I'm exhausted).

Bug is eating well since we quit the Keto Diet but she has not gained any weight back yet so I'm getting creative and adding carbs and calories anywhere I can - like adding sour cream and butter to her mashed potatoes and things like that. Hopefully it works soon. She has a visit with her pediatrician on Monday so we'll see where she's at on the arch and go from there. May have to start including calorie supplements to her foods.

Rayleigh had a bad couple of days of increased seizures last weekend then they went back down for a few days then she had a fever, most likely from teething, and that brought on a whole new round of increased seizures and sleepy baby starting Wednesday night. We went around and around with her neuros to get something done about the drastic increase of seizures. The answer we finally received was to increase her dose of Clonozopam/Klonopin. This is an emergency medicine we use to control her activity on seizure-frequent days but we hadn't changed the dose in over a year so the small dose was having no effect on her. So we raised the dose of the pill and she is to take 3 pills a day for 2 days then wean it off slowly after that.

It helped yesterday and today but tonight she had 4 small seizures while she was trying to fall asleep and it's just so frustrating and saddening. At least her fever has been gone for over 24 hours and we can focus on controlling these seizures now. We'll keep working with the doctors to get these back under control and I'll keep you posted.

We are strongly considering the Vagus Nerve Stimulator (VNS) treatment for Rayleigh. I'll do a post on that soon with all the information about it.

Sorry I don't have better news but hopefully we're moving in the right direction.
So goodnight and good-bye for now.

Quitting Keto

Bug has officially been off the Ketogenic Diet for 5 full days. We are having a lot of fun exploring new foods with her and seeing her likes and dislikes. Really though, there are very few dislikes!

It was really crazy when the pediatric epileptologist told us last week to quit the Keto Diet. He said that she didn't need to wean since we were already at a 3.25:1 ratio. He said to just start feeding her normal toddler foods. And my immediate response was, "What in the world do I feed her?!?? I haven't fed a toddler anything but heavy cream, butter and tiny amounts of carbs and proteins - and it's all weighed!" haha! Well, we figured it and...

I am very happy to report that Bug has been eating so much better since we quit the diet. We have also been able to stop all anti-acids and Miralax! And it's not just the eating that has improved, it's her whole mood!! She is happy so much more of the day than she was a couple of weeks ago. We used to have a "fussy time" with Bug every night starting around 6p and not ending until at least 8:30p, but the last 3 days she only fussed from 6:30-7p and then today we had NO fussy time!! She has been just amazing!

Now, I don't know if we can give all the credit to getting her off the diet, we did also lower her Lamictal a little over a week ago and that was already showing improvement in her mood and mildly in her eating. And at her visit with the pediatric epileptologist last Tuesday he advised us to go up on Bug's Vimpat to 1 pill in the morning and stay at 1/2 pill at night after we were off the diet for 5 days so we started that today. He doesn't like to do several things at once so that we can know what's doing what. So we raised the Vimpat this morning. No change noted except NO FUSSY TIME!! :)

So back to the topic of quitting Keto. We came home from the doctor's appointment and I made Bug a lunch of deli turkey and provolone cheese all chopped up, peanut butter Cheerios, carrot tomato baby food, and applesauce with berries. She loved it all and had a happy plate. (aka clean plate, empty plate, you get it - she ate every bite!! hehe)

Some of her new favorites are YoToddler yogurts, oatmeal, Earth's Best Chicken Tenders and Stars pasta baby food, hot dog, and peaches in syrup. In fact, I would say that right now those little cups of diced peaches in syrup are her current favorite thing!

So we'll keep exploring and we're just so happy with how well she transitioned to basic eating AND how much better her eating and her mood have been since quitting Keto. We gave the Keto Diet a good, long run but it just got to a point where it was doing more harm than good (in the doctor's words) so we put an end to it. I think we can all agree that it was the right choice for Buggie!

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Bug's current medications:
Clobazam/Onfi, 10mg- 3 times a day
Lamictal/Lamatragine, 25mg- 2 pills morning, 3 pills at night
Vimpat, 50 mg- 1 pill morning, 1/2 pill at night
Quit the Ketogenic Diet

Bug's current seizure control:
She is having 2-4 seizures a day. One is usually early in the morning, then maybe one in the afternoon, and then one or more at bedtime. The seizures are small tonic seizures that tense her up and her body curls in. She is breathing pretty well during the whole seizure and they have been no longer than 90 seconds, most under 40 seconds.

The Results Are In!

I won't leave you hanging

Rayleigh received a diagnosis today.
She has CDKL5.

Now I'll start at the beginning of today's doctor appointment.

Bug had a appointment today with her pediatric epileptologist and the genetic team he works with. This was a routine visit but we would be discussing the genetic disorder CDKL5. We assumed we would have to redraw Bug's blood to redo the test because the results were still not in.

We saw the genetics team first and they went over her medical history since her last genetics visit which was over a year ago. Then they asked about the CDKL5 results and we explained to them how we had been calling the neuro office and the lap weekly for the results. We went into all the details that I wrote about in this blog post... and this post. The geneticist sent out a member of his team to call the lab that her blood was sent to directly. When she returned she said that they just finished the test yesterday and they are faxing the results over RIGHT NOW! I was shocked and I'm pretty sure Michael's jaw hit the floor. Definitely not the news we expected!

While waiting for the results to arrive we went ahead and saw the epileptologist. He said that we need to come up with a new plan of action on Bug's treatment because his goal, no matter what the results, is to get Bug to zero seizures and zero side effects - a high goal but he wants to get as close to achieving it as we can! He advised us to go ahead and get Rayleigh Bug off the Ketogenic Diet. He believes (as do we) that it is now doing more harm than good. Obviously her seizures aren't controlled and on the diet her reflux and other tummy issues are off the charts. I'll do a separate post on quitting the Keto Diet.

The epileptologist also wants us to go up on the Vimpat, a week after getting off the diet, and stay at the current, lower Lamictal dose. Bug is doing better with the lower Lamictal - taking naps more, much happier through the day, and eating well!

Then he excused himself for a few minutes to check with genetics on the results of her test.

When he returned he was accompanied by the entire genetics team. They wasted no time in telling us that the results are in and she does have the genetic mutation. A member of the team handed me the following paper:

The final report was done yesterday, October 1, 2012, and the mutation on CDKL5 is on her p.Q347X. I will do a seperate blog post on the specifics of CDKL5. In short, it is a genetic disorder that presents seizures and severe developmental/cognitive delays that usually start within the first year of life. The seizures are generally difficult to control and there is currently no treatment or cure.

For more information visit the International Foundation for CDKL5 Page.

This news was not surprising to us. I think we've known, or felt, that this is what Rayleigh has since the day months ago that a dear friend let us know that their daughter was diagnosed with CDKL5.

I've been a part of the CDKL5 group on Facebook since we started raising money to have this test done and I have felt like family from day one of joining but now I know my baby Bug belongs to that group.

The geneticists and epileptologist were all impressed at how well we took the news and how knowledgeable we were about CDKL5 and what the diagnosis means. It's reassuring to know that Rayleigh has such an amazing group of people that love her and care for her and know just how amazing and strong she truly is.

I got a little emotional after the group of doctors left the room to gather papers for us. Not because Bug has CDKL5. But because this has been such a trying journey and now we have our answer. All the testing, all the questioning, all the insurance crap, we have a diagnosis. We have our answer.

They call those that are diagnosed with CDKL5 "angels" and I think we can all agree that Bug is just another sweet angel.

No Feeding Tube... Yet

Rayleigh had a visit with her pediatrician last Monday. We discussed how poorly Bug has been eating and also how she's been behaving and how seizure control has been. She is referring us a GI doctor that is familiar with the Keto Diet and with children that have neuro disorders. I have to call tomorrow to get that appointment scheduled. The pediatrician also wants us to talk to Bug's neurologist about her medicines because she thinks they could be the problem and that would be an easier fix.

I talked with her neuro on the phone for about 30 minutes going through Bug's seizure journal that I keep. It's just a notebook that I write each day of all of her seizures, changes in meds, mood/temperment, how she ate and if she was ill or teething that day. We went back through several months to figure out when was the last time she was eating well AND had fairly good seizure control. It appears that the best she was doing in recent months was when we were still on a low dose of Lamictal and working out way up on it AND was still taking a small dose of the Vimpat.

So here's our game plan: Stay on the 3.25:1 ratio of the Ketogenic Diet for a little while longer (she's tolerating well enough and we don't want to make too many changes at once). Meanwhile, we'll stay on 1 pill of Clobazam/Onfi 3 times a day and the changes will be to lower Lamictal in the morning to 2 pills and keep doing 3 pills at night and we are back to 1/2 pill Vimpat twice a day.

- Long story longer -

Bug's pediatrician said that Bug may have built an immunity to the Prevacid because it's really only meant to be taken for a couple of weeks at a time and Bug has been on it for months as a daily antiacid. She said rather than continuing to raise the dose every time it stops controlling the reflux she wants us to switch Bug to Nexium so we started that yesterday and she seems to be doing well on it. She vomitted last night but I think it was the adjustment from no Prevacid to a new medicine that takes a couple of days to take effect. No vomit or acidy smells today so I think the Nexium is doing it's job now.

Bug is still not eating well. We'll keep pushing until we figure something out that works for her. The pediatrician said Bug is down to 25 lbs which is only 20-30 percentile for weight. She's lost 13% of her body fat which is a big deal and has all of her doctor team working hard to find a fix - and her parents, too!

No Results But a Few Changes

That's right, we STILL don't have the results. I am still one very frustrated mama and just wait, it gets worse.

So I've still been calling the epileptologist's office weekly to check on the results but they have no updated status for me. So the nurse called the labs and said she still has no update for me. Then last week she said that she spoke to the epileptologist and he said that if we do not have the results of the genetic test by October 2nd (Bug's next appointment with him) then we will re-draw the blood and send it out all over again. UGH!

So it sounds like her blood is MIA.

To be clear, the nurse said that the re-draw will be at no cost because this was not our mistake. Obviously. There is no way we can pay that all over again, we went through lots to get enough money to do it in the first place! (Thanks again to everyone who helped!!)

In other news, Bug has really not eating well. She takes the first few bites of a meal and then starts crying, whining, spitting, choking, using her hands to push us/the spoon away and using her tongue to push food out of her mouth.

Bug is on the 3.25:1 ratio (lowered again since last post) and her ketones are still high 160 but she still has to take 2 Prevacids a day to keep the reflux controlled or she vomits. I'm really not happy about her having to take 2 Prevacids so I'm going to see if we can keep lowering the diet ratio.

We have an appointment Monday with her pediatrician to talk about her eating habit and discuss the option of the G-Tube. I've been doing a lot of research on G-Tube recently and I'm not too excited about the idea but if it's what Bug needs to get nutrients and stop losing weight then it's what we'll have to do.

I'll do a post after her appointment to let you know what we talk about and what we can do to get her eating again.

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Bug's current medications & control:

• Ketogenic Diet 3.52:1 ratio
• Onfi/Clobazam, 10mg: 1 pill 3 times a day
• Lamictal, 25mg: 3 pills twice a day - just started this dose today, full dose

Bug's seizures have gone from 4-5 a day to 1-3 a day, so a small improvement. They continue to happen mostly at night after she falls asleep. Bug is still not taking naps. She has been very irritable the last week, could be from the diet ratio change or the tummy problems. She just cut a molar and has one more to go but it doesn't even feel close so we're just waiting on pins and needles for that little monster to start bugging our Bug and pushing through.

We Thought We'd Have Some Answers By Now

Well, the title pretty much sums it all up. Rayleigh is 2 1/2 years old. We've been on the epilepsy road for over 2 years with no explanation of why. We finally found a genetic disorder that she really seems to fit (CDKL5) but the results are taking FOREVER! Or at least it feels like it.

I've been calling the epileptologist's office twice a week, every week, for the past month to check on the status or see if they've gotten the results and every time I hear the same thing "We have the results for the Rett Syndrome test and they are negative, we are not showing any other DNA results back."

Then I have to go through and explain the specific EIEE test that we had saved and earned money for to get Bug tested for CDKL5 along with 2 other rare genetic disorders.

I did this last Friday and his nurse said, "There's a DNA test result in here, has Dr. Ng called you with the results?" I informed her that the only results we've received were through the mail and were negative Rett test and normal glucose levels. She said that she would flag that test and have Dr. Ng call us.

Then she called us today and said that Dr. Ng reviewed all of the test results on her file and she is negative for Rett. I was thinking "Are you kidding me?!? I get it. No Rett. That is not what I have been calling about." So I politely asked if there are any other genetic tests that have come back and explained exactly which test results we were waiting on and she said that those results weren't in there but she would talk to the epileptologist and get back to us shortly with either the results or the status of the testing. She didn't return my call today so I'm expecting to hear back from her tomorrow morning - or I'll be calling again, the nagging patient gets the results (my father-in-law always says "The squeaky wheel gets the oil").

I just don't understand what could be taking so long and why there is so little I can do from my end. I am one frustrated mommy tonight.

I keep trying to reassure myself by saying things like "What's one more day? It's been this long already." But seriously, I want to know yesterday!!! That being said, I went ahead and joined the CDKL5 group on Facebook as suggested by a friend and they really feel like family already. So I'll keep focusing on the positive and nagging nurses and waiting (impatiently) until those results come in. And I promise to keep you posted :)

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Bug's current medications & control:

• Ketogenic Diet 3.5:1 ratio
• Onfi/Clobazam, 10mg: 1 pill 3 times a day
• Vimpat, 25 mg once at night 
• Lamictal, 25mg: 3 pills twice a day - just started this dose today, full dose 

Unfortunately, Bug's seizures are still at 2-5 seizures a day, they continue to happen mostly at night after she falls asleep. She has not been napping as a side effect of going up on Lamictal. We hope to get naps back after she has stabilized on the full dose, we'll see.