Surgery & Healing

Rayleigh Bug's surgery to get the Vagus Nerve Stimulator (VNS) put in was on Thursday. We were to check in at 5:30a and the surgery would start at 7:15a. Of course, Miss Bug thought it would be a great idea to start the day at 2:30a! So, needless to say, we were dragging our feet to the hospital at 5:30!

We arrive and check in and shortly after that they take us back to the "holding room" where they explain how the day will go and we get Bug's gown on her. Dr. Yaun, the neurosurgeon, came back to let us know what to expect and answer any last minute questions and then the anesthesiologist came in to do the same.

After an hour in that room it's time to take her back and start anesthesia. She had fallen asleep in the holding room so they expected no issues at all getting anesthesia to her. They would do it through a breathing mask which she tolerated very well the last couple of times she went under anesthesia. Michael and Lovie went straight to the waiting room but I got to walk with Bug until they took her to the next room to prepare for anesthesia.

 

It's a wierd feeling in that room. You've mentally prepared yourself, you are confident in the surgeon, but you find yourself with this small nervous feeling or something. I started tearing up and telling Bug how strong she is and explaining what will happen and how she'll feel when she wakes up but that I will be right there when she does and that Dr. Yaun and the nurses will take extra good care of her and I give her lots of kisses. Then I compose myself and head to the waiting room.

Once I'm back in the waiting room I'm feeling pretty good again. I know she's in good hands and that the surgeon has done this surgery without complications every time!

About 40 minutes into the waiting I receive a phone call from the nurse letting me know that anesthesia went perfect and Dr. Yaun started 20 minutes and it was going very well and that Dr. Yaun will be in once she's finished to let us know how it goes.

So we wait, and wait, and wait. We see families come in and wait, crying or showing no emotion. We see doctors come in one after another to let families know how their child's surgery went and then the flood of relief on that families face.

Then after 2 hours in the waiting room we see Dr. Yaun coming past the glass wall and as soon as she turns the corner and finds us she starts beaming and our flood of relief begins before she even speaks! And she says that it went perfectly and Rayleigh had the perfect skin and muscles for VNS placement and the leads attached right onto the vagus nerve like they should! She said that they turned the VNS on to do a couple test pulses and it did exactly what it should!

A little bit later a nurse comes and gets me to see her in Recovery. She is still in and out of sleep and very groggy but she's there, my strong baby girl! Only one at a time is allowed in Recovery so I take my time with my Bug then trade spots with Michael so he can see his baby goo, too!

Then they take us to a Step Down area which is just little rooms with curtain doors to stay until they discharge you. We are all allowed in the Step Down room so now Lovie gets to see her, too! We're calling and updating family members and making sure Bug tolerates juice and then they release us around noon.

She did very well the rest of the day at home, still a little groggy but not really sleeping anymore. Then Friday we continued doing Tylenol/Ibuprofen every 3 hours to manage pain but she was doing great! She was moving around and laying on her side and not too fussy. She is so strong.

Dr. Yaun told us we could take the bandages off on Saturday so we did that yesterday afternoon and I was like "Whoa, they cut my kid open!" haha

She should be feeling great for Christmas and then the next week we will see her neuro to activate the VNS and start the pulses very slowly.

Thank you to everyone who thought about, prayed for, and sent well wishes for a successful surgery and quick recovery! We love you all - Bug is blessed to have all of your support :)

It's Happening!!

Rayleigh's surgery is tomorrow!!!

My sweet baby girl is going to have her first surgery tomorrow morning. She will be under anesthesia for the 4th time in her life and she's only 2 1/2 years old.

The surgery is to implant the VNS. You can read all about the VNS in this blog post of mine.

The surgery will take place early in the morning. The neurosurgeon said that it will take about 1-2 hours for the surgery and then Rayleigh Bug will be in recovery for 2-4 hours and then she will be released to go home that afternoon/evening!!

Bug will need to be on Tylenol/ibuprofen for 2-3 days for pain management and will have some restrictions at first like no laying on her left side and no carrying under her armpits.

We will see her neurologist in 2 weeks to have the VNS turned on. They like to allow a couple of weeks after surgery for the body to adjust to the foreign object before they activate the pulses. Her pulses will be very slow at first and will be adjusted every 2 weeks for a few months. We have a busy road ahead of us but we are ready!

I will do a post tomorrow to update you on how it went!

Rescheduled With No Date

I thought I would be posting more about Rayleigh's VNS by now but that will have to wait. Unfortunately, her surgery has been pushed back again. It was originally scheduled for November 29th but our secondary insurance had the payment as pending so the hospital had to wait because they need it paid in full before they can operate. So we were given a new date of December 13th. Then, the neurosurgeon's office called this week to tell us that our secondary insurance is now saying that the VNS is not FDA approved for children under 12 years old and they are wanting a lot of "proof" that this is a good idea for Rayleigh. They want copies of her MRIs, EEGs and letters from her neurologist, epileptologist and neurosurgeon. I have no doubt that these letters will get written and sent promptly but I highly doubt they will be read soon.

This time, they have rescheduled us without a date. The office will call us when they hear from our secondary insurance and we will set a date then. The nurse said it will likely be in the New Year.

I don't know why this upsets me as much as it does, but I'm really sad about the whole deal. Maybe its because I'm the kind of person that goes by the calendar, maybe it's because I've always been a little sad when something I've wanted gets puts off but I really think it's because I want this for Bug so bad.

I feel like the quicker she gets the VNS put in, the faster we can

activate it and the faster we can see the results.

 

Like every day matters.

 

 

Really quickly I will let you know that Rayleigh Bug has been on the full dose of the new medicine and has been Lamictal-free for 2 weeks now. She tolerated the transition fairly well (compared to previous medicine/dose changes). She is finally starting to take naps in the middle of the day again - something that stopped when she was taking Lamictal. Bug's seizure frequency and severity has gone down in the last couple of weeks and we aren't seeing any side effects. Well, maybe crankiness but she is also cutting her last molar so it could be attributed to that...

 

 

Rayleigh's been a happier girl these days, even flashing smiles again!! And she seems stronger. I think it's a combination of hard work and putting weight back on again!

 

Photo taken in October 2012

 

She is one tough cookie!

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.

Annual Eye Exam

Today Bug had her annual eye exam with her neuro-opthomologist. Well, I guess I shouldn't say "annual" because she sees him 2-3 times a year but only once a year does he dilate her eyes and do the full prescription check and that was today's visit.

I'll keep this pretty short - mostly because it's late and I'm exhausted, but also because I didn't take notebook like I usually do so I have already forgotten alot of the big words he used!

We decided that we do not need to do another ERG on her eyes. Bug had an ERG last March while she was still taking Sabril/Vigabatrin. The ERG is where they put her under anethesia and then put wierd contacts with little probs on them onto her eyes and do a series of tests to see how her eyes respond and how all the little things in the eyes are working. Her last ERG showed that there was a depletion of the rods in her eyes but that the cones were fine.

We chose not to do another ERG because either way, improvement or worsening, there's nothing we can do. If we were still on Sabril and the next ERG showed worsening then all we would do is get off the Sabril, but she's already off it. The neuro-opt also explained that a lot of children with CVI and neuro issues will have some sort of depletion in rods and/or cones that will improve on it's own as they age. He said that if we really want the peace of mind the ERG will tell us what's going on whether it's better or worse but it's not necessary for her treatment.

He said pros are that we'll know either way, and cons are that we have the risk that goes along with putting her under anethesia and how that always brings on more seizures throughout the day after the test, too. And I guess another con is that it won't change treatment. Then he gave us a moment to discuss it and said that he fully supported either decision we make. Then when he came back we told him we'd like to not do the ERG and we like the option that if we change our mind down the road then we just have to call the office and he'll get it scheduled.

Wow, this is longer than I thought it would be, I guess I'm remembering more than I thought.

Anyway, her prescription is the same as last time but her astigmatism has improved very slightly so the axis is a little different so she received a new prescription afterall. I'm excited to get her some cute new glasses :)

After checking her eyes he said that he agrees with our decision on the ERG because her eyes are not any worse than last time and her tracking, etc. is much better than it used to be :)

This picture is from a year ago when she first started wearing glasses

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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
• Lamictal, 25mg: 2 pills twice a day - weaning up

Unfortunately, Bug's seizures have picked up since my last post to 2-5 seizures a day, they are happening at night after she falls asleep. She will occasionally have one during the day while she's awake. 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 next month.

Neuro Check Up

Still no results, the neuro said it could be more like 4-8 weeks :(
Yesterday Bug had a regular check up with her pediatric neurologist, Dr. Coleman. We basically just discussed the short term plan of action which is this:

• Continue weaning up on Lamictal as previously discussed with Dr. Ng until we get to the full dose. She'll be on the full dose in a month, we are to increase the dose each week on Tuesday.
• Hold off on the Vimpat weaning until next Tuesday when she gets to 1 Lamictal pill in the morning and 2 Lamictal pills at night. So on that day we'll go down on Vimpat to 1/2 pill twice a day.
• Lower Ketogenic Diet ratio from 4:1 to 3.5:1 to help GI/reflux issues.

The other main topic of the visit was her EEG from last week. He said that her sleeping background is normal other than a few hitches that could lead to seizures but don't. There was no hypsarrhythmia!! The hypsarrhythmia is the infantile/epileptic spasms reading. Almost a year ago is when her epileptic spasms began (a month after starting the Keto Diet) and the spasms were somewhat controlled when we started Sabril (Vigabatrin) and have been improving since and now they're gone!

Her current seizure type is still the Tonic Seizure that starts on the left side but it is now generalizing to the entire brain during the full arrest. Her body tenses up, she rolls her eyes to the left and her body curls in. She sometimes holds her breath for 3-10 seconds at the beginning of the seizure and then has labored breathing until it's over. She is usually calm afterward and if it happens in the middle of the night she just goes right back to sleep the majority of the time. She is such a strong girl, my Bug.

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Bug's current medications & control:

• Ketogenic Diet 4:1 ratio - soon to be lowered
• Onfi/Clobazam, 10mg: 1 pill 3 times a day
• Vimpat, 50mg: 1/2 pill morning, full pill at night
• Lamictal, 25mg: 1 pill twice a day

Buggie is currently down to 1-2 seizures a day, they are happening at night after she falls asleep. Within the last week she has had one seizure during the day and it was when she snoozed for about 20 minutes. 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 next month.

Whirlwind of 2 Weeks

Nope. No diagnosis results yet. Just filling my time until it arrives in the mail. I've literally been checking the mailbox several times a day. I even check it again once after I've collected the delivered mail just in case I missed it earlier or maybe a different mailman brought it later. Logically I know it's not the case but I can't help it, I want the results yesterday!

Anyway, last week was pretty bad and kept me on my toes. Rayleigh Bug had gastritis again. She was throwing up at least once a day and her burps smelled like acid. We saw her pediatrician and she told us to give Bug 2 Prevacid a day instead of just one for the rest of week to control the acids. This helped almost instantly but then over the weekend we tried to go back to just 1 Prevacid like she said and the acid burps came back and then last night a little spit up so we're doing 2 Prevacid today. I'm waiting to hear back from her dietitian to see if we can go down on her Ketogenic Diet ratio to 3.75:1 or 3.5:1. She is currently on the highest ratio of 4:1. For those of you not familiar with the diet, the ratio means 4 times the amount of fat over the amount of carbs+protein combined.

This is her second time having gastritis since being on the 4:1 ratio. Plus we didn't see a noteworthy improvement of seizure control when we raised the ratio from 3.5:1 to 4:1.

This this Monday little Miss Bug had an EEG. Which means we had to sleep deprive her the night before. They say for 2 year olds that she can only have 3 hours of sleep the night before and only in the middle of the night. The EEG was at 12:30 with check in at noon. It took 2 hours just to get her fully awake - it came to the point where we had to just strap her into her bath seat and shower her :( but it worked with very little traumatization. And we were able to keep her awake fairly easy and right around 11:30 she started acting very sleepy and then at noon while we were checking in she was falling asleep so we hurried upstairs and they showed us the room and she fell asleep within 2 minutes of laying down! The EEG techs were impressed!

They don't require you to sleep deprive the children for the sole purpose that they will sleep during the EEG. While they do require most of the test to be done during sleeping, sleep deprivation makes the neuro issues more apparent and more likely to occur during the EEG. When she's napping she doesn't normally have a seizure but because of the sleep deprivation she did have one for the EEG so they were able to capture that activity. We see her neuro Monday to get results and talk about the meds.

                                                          
Current medications she's on: Ketogenic Diet 4:1, Vimpat, 50mg 1 pill twice a day, Clobozam/Onfi 10mg, 1 pill 3 times a day, Lamictal, 25mg, 1/2 pill twice a day.

Seizure control: Bug is having 2-5 seizures a day, mostly over night during her sleep. Partial seizures, wakes up, tenses, labored breathing, sometimes twitches, then she goes back to sleep.

Bug in Theratogs

Well, while we are anxiously awaiting the test I will fill my time by writing a little blog about Bug's new TheraTogs. Bug has been wearing them for about a month now. Once on her, they look like some sort of spandex bodysuit. The TheraTogs catch-phrase is "Therapy You Wear". Bug's physical therapist at Jim Thorpe Rehab recommended them for Rayleigh Bug. She said it would help with Bug's low muscle tone and her sensory issues.

Here are some lines from around the TheraTogs website:

For patients with biomechanical or neuromotor issues

TheraTogs work by allowing the clinician to set the patient’s body in proper functional alignment, and letting them re-train their body through the ‘practice’ of daily activities. By applying prolonged, gentle forces during activity, TheraTogs can actually change the muscle and connective tissue – and for infants and young children, bone and joint development as well – in favor of better function and better alignment.

For patients with sensory and sensorimotor issues

TheraTogs work by applying consistent, gentle compression and proprioceptive input across the entire trunk, and by offering stability and support in a dynamic system that moves with the patient.

For sensory integration/sensory processing applications...A snugly-fit TheraTogs system provides the wearer with gentle, consistent proprioceptive and deep pressure input - a 'wearable hug' worn discreetly under clothing.

Here's there prochure with some more great bullet-points and information about TheraTogs for children http://theratogs.com/Doc/pdfs/TheraTogs_Corporate_Brochure.pdf

And if you're interested in the Research and Studies that have been done on Theratogs you can visit http://theratogs.com/Research.aspx.


In a nutshell, for Bug, Theratogs are meant to help support her low muscle tone because they wrap around tightly and hold her snug and give her deep input. Like it says above, they provide a wearable hug. They release the same feel-good hormones as a long hug or petting an animal which helps with her sensory issues.

She wears them every day, all day, and takes them off for sleeping. They are hand-washable, and I wash them about every other day. They stretch out but after washing them they form back to their shape.

These are all the pieces that wrap around her to form the TheraTogs

This is how they go together - it's a puzzle

The inside, that touches her skin, is like a soft leathery foam

This is what the basic suit looks like:

The white tabs are plastic and have velcro-like teeth on one side that adhere to the gold fabric

Here they are under her clothes

And then we've added this back strap which helps tremendously with her back arching:

And we just recently added these 3 straps across the belly, one straight across and the other 2 form an "x" across her tummy. These are supposed to help her stay forward in the sitting position but I haven't seen much difference between adding the back strap and then adding these.

At first, when it was just the suit, I didn't think these would be something we would need to stick with for long because we weren't seeing effects but after adding the strappings we can all tell that they help!


This is something new I'll be including at the end of each blog, Rayleigh's Stats:

Medicine: Ketogenic Diet, 4:1 ratio; Clobazam, 1 10mg pill 3 times a day; Vimpat, 50mg pill 1 in morning & 1 1/2 at night; Lamictal, 1 5mg pill twice a day.

Seizure Control: This week she has only been having 1-2 seizures a day. They are lasting about 10-25 seconds. She locks up, labored breathing, eyes look left and then she relaxes and breaths normal and goes back to sleep - they have all been during sleep as of this week.

Success and A Test

I'll get straight to the point on this post - We have reached our goal in raising the out-of-pocket expense for the EIEE test that Rayleigh needs done!! We have had the blood drawn and will get the results (and the bill) within the next 3-4 weeks!

A huge THANK YOU to each and every person that helped either by donating items for the garage sale or money to the fund, or with prayers, love, support and spreading the word! We could not have done this without you!

“We can’t help everyone, but everyone can help someone.”
-Ronald Reagan

So, again, thank you for choosing to help Bug and I will keep you posted on the results and anything that may be interesting enough to post about before then.

Pediatric Epileptologist Visit

Today Rayleigh had her first visit with our state's only pediatric epileptologist, Dr. Ng. We started out with about 20 minutes of her history: full term birth, no complications, home at 2 days old, when we noticed seizures, when we got diagnosis, that they were originally tonic-clonic seizures, that they've changed just about every single time we've changed medicines, what medicines she's been on, that she's now no longer having infantile spasms but she is back to having partial seizures, that she's on the Keto Diet, that she's taking Clobozam and Vimpat and we've got planned for the future as far as upcoming MRIs and such.

Wow.

Dr. Ng is better at explaining things than we expected him to be. He's also very good at having a long-term plan as well as a start-right-now plan. He is more aggressive than Bug's pediatric neurologist but we were told to expect that. He's also good at giving facts, statistics and percentages which we like.

It's been 2 weeks since we raised the Vimpat levels last time and we haven't really noticed much of a change. Dr. Ng prescribed going up on the Vimpat to 1 1/2 pills twice a day starting tomorrow morning (we were at 1 morning, 1 1/2 night), this will be as high on the Vimpat as she can go.

If in 2 weeks we do not see a significant decrease in seizures, he prescribed Lamictal. We have to work our way up to the full dose of Lamictal very slowly for Bug. Lamictal has only one major side-effect that happens to about 1 in 10,000 patients: a possibly fatal rash. We can decrease the chances of the rash even more than that by starting her off very small on the dose and working her way, over 3 months, up to the full dose. He said that it shouldn't cause drowsiness, irritability or many other side effects that are associated with anti-convulsants and it is a very successful drug in seizure control.

Dr. Ng's office is scheduling an EEG through their hospital for him to have a fresh look at her brain activity and he will add his name to see the results of her upcoming EEG that will be scheduled through her neuro. Other than that, he had us go down to labs to check gluclose levels and that's it for today. We see him again in 3 months along with a geneticist in his department.

Garage Sale to Earn Money

Continuing our efforts to raise money for Rayleigh's Early Infantile Epileptic Encephalopathy test, we are going to start gathering items for a garage sale. If you have any items that you were just going to take to a secondhand store or give away, please consider donating them to us for the garage sale. All money from the sale will be going towards Rayleigh Bug's EIEE test.

To learn more about this genetic test that Rayleigh needs please read this blog post.

We are definitely not afraid to work for the money that Rayleigh needs!  We have already been going through our own home finding items all over to sell. If you have anything that you would like to donate for our garage sale it would be a very appreciated contribution! We'll take anything! Clothes, picture frames, baby items, books, jewelry, kitchen items, electronics or anything you're willing to donate to the cause! Anything unsold can either be donated to a Goodwill or given back to you - whichever you prefer!

We're more than willing to come get the item(s) from you if you live in or around Oklahoma City. If you are out of town or state and would like to contribute items for the sale to raise money for this test you can mail them, contact me for information.

Early Infantile Epileptic Encephalopathy Test

Rayleigh's next test that is needed is called the Early Infantile Epileptic Encephalopathy (EIEE). This will test for these rare genetic disorders, each on 2 different levels: CDKL5, ARX, and STXBP1.

Information on this test provided by Athena Diagnostics Quick Guide:

The Early Infantile Epileptic Encephalopaties (EIEE), including Ohtahara Syndrome and early myoclonic epilepsy, are a group of severe epilepsy syndromes characterized by intractable early-onset seizures (generally in the first months of life) and a highly abnormal "burst-suppression" EEG pattern.

EIEE typically presents with treatment-resistant tonic spasms, focal seizures, and rarely, myoclonus. Over time, 40-60% of EIEE patients evolve to West syndrome, characterized by infantile spasms and a highly disorganized "hypsarrhythmia" EEG pattern. In general, many of these patients evolve to Lennox-Gastaut syndrome (often, but not always, between ages 3-6), which presents with mixed seizure types. Testing is indicated for individuals presenting with the above symptoms (tonic seizures, abnormal EEG, and myoclonus).

Reasons to test for EIEE:
Genetic testing can:

• Provide a confirmatory diagnosis
• Genetic testing for STXBP1, ARX, CDKL5 was rated "very useful" and "highly accurate in correct clinical context" by International League Against Epilepsy (ILAE) guidelines
• STXBP1 is mutated in 36% of patients with Ohtahara Syndrome.
• Provide important inheritance and genetic counseling implications
• ARX is an X-linked disorder that is seldom inherited, providing important inheritance implications
• Determine appropriate treatment options
• STXBP1-associated seizures in EIEE may respond better to Vigabatrin

This test is over $10,000. Insurance is willing to pay for some of the cost but we will still owe $2,100 ourselves. We are now on a mission to raise enough money so that Rayleigh can get tested as soon as possible.

Below is the link to a fundraiser I have set up to collect some of the costs needed, please share it with anyone who may be able to help Rayleigh Bug!

If that doesn't work, try this direct link to the Fundrazr: http://fnd.us/c/eKEyc

Catch Up Post

Wow. I cannot believe it has been over a month since I've posted anything. Not many new things have been happening for me to post about, I suppose.

Well, that's not entirely true. We've made some changes. Bug is still on a 4:1 ratio on the Ketogenic Diet and trying new foods all of the time! She's still such a good eater! Bug is also still on the same dose of Clobozam, 1 pill 3 times a day. The change is that we added Vimpat about a month ago and then raised the dose of it about 2 weeks after starting it and that's when we started seeing improvements. The head drops decreased. But she has been having partial seizures.

A partial seizure happens in a specific side of the brain (left side for Bug), the body generally tenses up, arms will extend with clutched hands, legs will extend with curled toes and face will redden. Bug breaths well the entire time for most of these seizures, she also looks off to the left side with her eyes and occasionally smacks her lips throughout the seizure. Hers only last 15-45 seconds, and sometimes it's less than 10 seconds.

While a partial seizure isn't as harmful on the brain as infantile or epileptic spasms, it is still scary and definitely something we want to fully control. Infantile or epileptic spasms can be worse because they cause a lot spike and slowing activity in the background of the brain along with spike activity during the actual spasm. With partial seizures, her brain activity is more normal between seizures allowing for more development.

That being said, we still have not made many new milestones. She can now take the sippy cup to her mouth from the tray on the highchair if we put her hands on it. And she will take it to her mouth when you put the cup in her mouth while she's propped up or being held every time. She's still arching and resisting the sitting position, we're getting Theratogs that might help (that will surely be it's own post). And she doesn't have the same muscle tone in her legs that she used to. Bug outgrew her Jumperoo and her walker over a month ago and the Lecky Squiggles stander that we ordered is still not in. So the only standing she's getting done is when we hold her up and at 27.6 lbs we can't hold her very long but we're working on it!

We just increased her Vimpat again on Wednesday because she was still having 2-4 partial seizures a day. Before raising the levels (a week before, actually) we took her up to get her blood drawn so labs could check her Vimpat levels.

Her level was low + continued partial seizures = raising the dose.

So, the worse part about raising Vimpat is this: Every time we raise the dose we go through a rough couple of weeks. There are side effects with all medicines that affect children differently so this is just our experience.

Week 1 of the raised dose comes with insomnia. Insomnia comes with crankiness and both of those lead to more seizures. It's bizarre that she has more seizures when we raise a medicine that is meant to control seizures.

Week 2 of the raised dose involves drowsiness and irritability. The drowsiness only really becomes a problem for her physical and occupational therapies, all she wants to do that week is sleep through them all. The irritability is pretty bad though, she acts like a full on 16 year old girl and it seems like nothing I do makes her happy. But the week after those 2 are over things really settle down and we get the chance to see how the new dose is acting. So give me 2 weeks before I report any change on that :) Hopefully I'll have good news to share!