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.

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.

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!

Growing Toddler on Ketogenic Diet

When Bug first started the Ketogenic Diet she was still eating baby food almost exclusively. I knew we were lucky to have started the diet so early because 1) Rayleigh is a good eater and we already knew which fruits and veggies she preferred and 2) We would be spending a lot less time in the kitchen.

After a few months on the diet we slowly started introducing "big people food". We started simple with finely chopped all beef, no nitrites hot dog in place of the baby food beef, chicken, etc. We would just do one meal a day with something she had to chew like the hot dog. She also started really liking the taste and texture of applesauce over baby food apples from the first time she had it on day 1 of the diet! Her first really chewable meal was actually tried when she was at Cook Children's Hospital starting the diet - she had egg salad with cream and applesauce on the side. She did so amazing with that then and it really gave us the courage to start introducing new foods.

Now she eats deli meats, hot dogs and egg in place of baby food proteins! She also eats tuna salad and loves it! Of course, it's not the same tuna salad we eat because of the diet but that's the whole thing, playing with new foods but making them for her in a way that we're not used to. A lot of these new foods you can't really make a few days ahead like we could with the baby food so we're in the kitchen making keto meals every night for the next day but we've gotten into a really good routine with it! 

She's tried so many new things over the last month or 2 and her appetite is really evolving! She likes things like tuna salad, egg salad, scrambled egg with cheese (made with cream instead of milk), cauliflower, and she loves fresh fruits like bananas, strawberries and pears! Going to try fresh plum today, I'm sure she'll love it!

Clockwise: Steamed cauliflower, butter with almond butter, cream with deli ham

Clockwise: Whipped up cream, applesauce, scrambled eggs with cheese

Bug trying cauliflower with cheese for the first time

So, yeah, we do spend more time in the kitchen making these meals but so far it has been well worth it! With baby food, you just open a jar, weigh it and put it in the fridge; with "big people food" you have to weigh all the ingredients, then mix them, then cook it, then weigh out the amount she can have per meal.

My next big feat: keto birthday cake!!!

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Purple Day is quick approaching!! Start picking out your purple outfit now! Purple Day is National Epilepsy Awareness Day, March 26th! March 26th is also Bug's birthday!!!!!!

Wear purple in honor of Bug and all others with epilepsy on March 26th to bring awareness to this disease that is burdening my baby girl and so many others!

2 Weeks Left on Sabril

Rayleigh Bug is now down to her last 2 weeks on Sabril (Vigabatrin). She will be on this medicine for a total of 2 months, give or take during the weaning process, when it's all said and done.

Last week Bug had her mandatory vision test. Eye exams are required by the FDA for any patient taking Sabril. For Bug, because she's only on the medication for 2 months, she was required to have one during the medication period and then she will have to have a second one done in August - a few months after she's done with Sabril. These eye exams are required because Sabril has several different side effects on vision.

The most common side effect on the eyes from Sabril is the loss or decrease of peripheral vision. If there is a decrease or loss to the peripheral vision due to the Sabril then it is permanent damage and will not be restored.

Other side effects include damage to the rods and the cones in the retina (that read light and darkness, black & white and color), overall decrease in vision and total loss of vision.

So, back to Bug! Last Tuesday she had an ERG (electroretinagram) on her eyes. Her pediatric neuro-opthomologist had her under anesthesia and placed small electrodes on her eyeballs. She sits in a dark room for 30 minutes to get a base reading on her rods and to calm the entire retina. Then they have a red light on to see how her eyes process that. Next is a soft white light, then a brighter white light, then a strobe light.

The test itself was really easy on Bug. She wasn't sore or anything for the electrodes and she wasn't nearly as groggy throughout the day like we thought she would be.

The ERG has to be evaluated by a trained person, computers cannot read it - yet, and it takes a while so we had a follow up appointment with her ped neuro-opthomologist (what a mouthful!) for that Friday.

During the exam Dr. Mike and his nurse used different lights and contrast tools for Bug to recognize and track and she did better than she usually does so that was enlightening! They also noted that her nystagmus has really calmed down, her eyes didn't shake once during the exam. It's very occasional now.

Dr. Mike explained that Bug's rods in her retina are responsible for seeing in the dark and seeing black and white images. Her rods are at 100%, so they're perfect and not affected by the medicine at all!

Then he said that her cones, responsible for seeing light and bright objects, are 1/3 to 1/2 depleted. He said that this could absolutely be caused by the medicine. He's not able to tell us for sure because she didn't have an ERG prior to starting Sabril so he doesn't have a previous test to compare these results to and see if it's something new or was always there. We really hope that the depletion was caused by Sabril because if it is then there is a good chance they will heal back to 100% after she's done taking Sabril.

We have an appointment with her ped neurologist this week and our main question to him is this: Bug has had increased headdrops, at least one a day, for the past week now. She is also cutting teeth bad and getting a small fever about every other day that we are treating with Advil. That being said, should we stay at this level of Sabril for the last 2 weeks or wean it off in case it damages her eyes further, or should we increase the dose for the last 2 weeks to control these head drops?

Long Overdue Update Post

Rayleigh is 1 month into her Sabril medicine. This is the new medicine she's on specifically designed to treat infantile spasms. She is responding really well to the medicine. It's a pain in the butt to give her, but she's responding well so we'll push through! It's only for 2 months - only 1 more month to go! She won't be on the Sabril (aka Vigabatrin) for longer than 2 months because of the side effects on her eyes. The longer she's on the Sabril, the higher her chances of poor vision.

She had her EEG a couple Fridays ago. This EEG was to compare her brain waves on the Sabril to the EEG in December. The December EEG was when we discovered she was now having infantile spasms - abnormal brain activity even when not having a seizure.

The most recent EEG shows improvement!

The Sabril is helping her. She is having less spike activity and way less spasms. In fact, the only spasms we've seen recently were head drops and they were only on days that she was teething pretty bad (stress on her body allows for breakthrough seizures/spasms).

Her brain activity is better but not all better. It is unlikely that the Sabril will completely normalize her brain activity since she's already been on it for a full month but it could still show more improvement.

Once her 2 months on Sabril is over we will wean her off Sabril.

Next plan of action could be 1 of 2 things: Increase Ketogenic Diet ratio to 4:1 (she's currently on 3.5:1) OR Start her on Vimpat, a different seizure control medicine.

Ideally, we'd love to go up on the diet ratio and give that a chance but that's all about whether her body can handle the added fat or not.

Rayleigh has an ERG scheduled at an eye surgery center at the end of this month. An ERG is an electroretinography or electroretinogram. It's to test her eyesight. Visual exams are required by the FDA during the course of taking Sabril. The ERG will be done at 6am under anesthesia. They will place small electrodes to Bug's eyeballs to measure electrical responses to the eye to look for any abnormalities. So I'll be posting again after that.

She's such a strong little girl and we love her with all of our hearts!!

Who Knows What's Going On...

Friday's appointment with Bug's neuro was pretty routine. We discussed the new medicine, Sabril, that we are going to be starting soon. She will continue on the diet and the Clobazam while taking the Sabril. We also talked about Bug's vomiting and no bowel movement since Tuesday. He did confirm that Rayleigh is having Infantile Spasms. The Ketogenic Diet that Bug is on is a very successful treatment for Infantile Spasms. That is, when their ketones are at the highest and the child is in full ketosis.

That being said, if Bug isn't able to eat anything on this diet, or at least keep it down, then we won't even be able to give it a chance. Right now none of Bug's doctors (pediatrician, pediatric neuro, ER, dietitian or pediatric epileptologist) think it is the diet causing the vomiting. Michael and I do not think so either. And if it was the diet the vomiting would be better by now because she really hasn't eaten in 2 days.

We spoke with the on-call pediatric nurse at the Baptist Pediatric Group Saturday night and she said that it really sounds like a bowel obstruction based on the timing of the vomit - eat and then vomit 3-4 hours later. She said that that is how long it takes for the food to make its way down but if it gets a point and is blocked by stool it will come back up. She said that if Bug didn't have a bowel movement by the next morning to go ahead and take her to the ER so they could do a second x-ray to compare to her first one.

We ended up going to the ER Sunday morning. Bug was in good spirits, a little more calm than usual but not quite lethargic. The x-ray they did Sunday did not show any obstruction and the doctor diagnosed Bug with constipation and vomiting due to gastritis. The doctor said to keep her on fluids for 24 hours and do a suppository every 12 hours to help her pass the poop that is in her bowels. She had 2 small bowel movements that day and seemed to be feeling better after that!

Bug went all day Sunday vomit-free and was able to keep 1 snack down! But then she threw up during lunch yesterday. She did have a big poop Sunday night so we thought we might be close to the end of this ordeal. BUT, wrong again, she threw up a small amount during medicine that night. Pretty much just acid. We think she gagged herself this time because she's been using her tongue to block the medicine and it seemed like her tongue gagged her in the process :(

At that moment we decided we would be more strict about the 24 hour fluids only. So all day today she drank MIO flavored water and Powerade Zero (both Keto approved drinks). She didn't drink as much as we would have liked despite our frequent efforts but she never threw up so if she's up to it she'll have a sugar-free jello snack for breakfast with her vitamins.

Weird thing though, she hasn't had any of the bigger spasm seizures and we haven't noticed any of the smaller ones either in the last 3 days. Not sure what to make of that...

Long Day Followed by an Even Longer Morning

A quick update before I get into yesterday and today:
Over the last couple of weeks since my last post we have been busy changing the Ketogenic Diet ratio, weaning off Trileptal and working more than ever on physical therapy while trying to maintain a balance of stress-free fun! Bug was on the new diet ratio of 3.5:1 for 1 week and she was still having headdrops and spasm seizures throughout the day. About 3 headdrops a day and 3-5 spasms per day. We called the dietitian at Cook Children's Hospital and spoke with her neuro, both told us that Dr. Hernandez, Bug's epileptologist, recommended trying the new ratio for one more week to give it more time for the fat to process into ketones. Well, that seemed to help a little because her ketone levels finally made appearances on the highest mark level. For the previous 3 weeks they were mostly on the second-to-highest ketone level which is good but not ideal. This week we've also seen the headdrops go down drastically, some days she doesn't have any and yesterday she had only one. Spasm seizures have also gone down from 3-5 per day to 1-2 per day.

Now to more recent news. Michael called Rayleigh's neuro on Monday because she was having a really hard time falling asleep at night. Some nights would be after midnight, a couple of nights were past 2 am. She would get comfortable and start to close her eyes but then jerk awake or reposition or just fuss and fight it. It was as if there was too much brain activity for her body and brain to fully relax and fall asleep. So, Dr. Coleman prescribed Clonodine. She takes a 1/2 pill of a .1mg each night. So far, that's been helping her fall asleep by midnight which is good.

Tuesday night a couple of hours after dinner, shortly before bedtime, Bug threw up. Well, at first it was a little vomit-burp but then she gagged again and then she full on threw up everything she ate for dinner. She fussed for a little bit afterward like most people do but then she seemed fine.

BUT, Wednesday she woke up at 6:20a and for a little bit we just snuggled and hung out trying to fall back asleep but then around 7a she began full on crying. She kept trying to chew on her fingers (getting 2 yr molars) and she let out a couple of poots so I gave her some Mylicon and some Advil and she fell asleep around 8:30 for 30-40 mins.

She threw up right after breakfast but it wasn't a whole lot, certainly not her whole breakfast. Right after vomiting she acted fine and normal so we went on with our day. At that point I just figured it was a little leftover upset tummy from the night before, maybe dinner didn't settle or something.

Then around lunch she started acting fussy again so we skipped lunch and just had a yogurt snack instead. Michael and I thought that maybe the high ratio of the diet wasn't being well-tolerated by her body so we'd give her a little break to digest it and we noticed that she really had not been drinking well the last couple of days, just a little with medicine and that would be all she'd take. So we gave her some water before her nap and all seemed well.

After her nap she threw up again. She was still acting fine after she'd throw up so we pushed more fluids and then she threw up again so Michael immediately called the on-call neuro to see if this was normal for the diet.

**Flashback to Ketogenic Diet beginning days in the hospital: Bug threw up when she was on 3:1 ratio so we lowered it to 2.5:1 ratio and let her body build up to 3:1**

He spoke to the on-call nurse who is familiar with the Keto Diet. She said that being dehydrated is pretty common with any diet ratio increase so we should really push fluids and try and get her to drink 1-2 ounces every hour and suggested using a syringe to force fluids if she wouldn't drink (luckily it didn't come to that last night). She downed 2 ounces in one sitting but then vomited it right back up so we went a little slower and she did really well so she was allowed to have a snack before bed.

This morning she woke up at 6am. Not fussy, just awake and happy and drinking her water a little at a time so we turned on the light and I planned to stay awake with her for a good hour or 2 and was hoping she'd go back to sleep for a mini nap before physical therapy that morning at 10:30. That never happened because at 7am she vomited again. Big time. I called Michael, then called the on-call nurse back and decided to take her to the ER so they could run some tests and do an iv for fluids if necessary.

Luckily Michael's sister is a nurse at the ER and we were able to get Bug straight in and then Susie arrived (we have a wonderful support system). Bug did not have a fever so they proceeded to run some tests.

She had an x-ray to see her bowels - they were looking to see if she was overly constipated or backed up, causing the vomiting. Showed up normal, no constipation.

She had a urine test to check for bacteria like a bladder infection and to check her ketone levels. No bladder infection. Ketone levels were 80, high but not highest level.

neuro and they decided to run a blood panel to check her ketone levels that way also and to check her level of dehydration.

Then she got some fluids via iv.

The blood work came back and the doctor told us that the ketone levels are really high and this type of nausea is common with such high ketones so they prescribed a nausea-settling medicine that she can take every day, every 4 hours as needed to help her tummy settle while her body adjusts to the high ketones.

Her neuro wants to keep her on the 3.5:1 ratio for now because despite the vomiting she is having increased seizure control on this ratio vs. the 3:1 ratio. We see him tomorrow for a check-up visit so we have a list of questions as usual and I'll post shortly after the appointment.

From Bad to Worse

Yesterday Bug had an EEG and followup doctor appointment with her neuro right after. The EEG went well and she slept at the right time to get a clear reading.

When we saw Dr. Coleman, her pediatric neurologist, he looked solemn and said that he had bad news.

He proceeded to tell  Michael and I that Bug's background has changed and is no longer normal. Instead, it is spiking even when she is not seizing and there is also some slowing in activity. And now the spike activity is happening on both hemispheres rather than just the right side like previous EEGs.

He said that this is noticeable with Infantile Spasms but that her seizures don't physical appear to be Infantile Spasms. Her neuro told us that she is experiencing spasm seizures. This is when she has her head drops and includes the seizures when she opens her eyes, makes wide arm movements and smacks her lips while blinking and opening eyes wide.

The treatment for these spasm seizures is to wean her off of Trileptal within the next 10 days because it does nothing for this seizure type. It is not hurting but it isn't helping. During that time we have increased her diet ratio from 3:1 to 3.5:1 (more fat and less carb). The Ketogenic Diet has shown great success is reducing spasm seizures for so many kids so we are focusing on getting her ketone levels really high again with more fat in the meals. Her ketones have been moderately high for the last few weeks but are only occasionally at their highest anymore.

We will give the 3.5:1 ratio 1 full week and if she is still having the spasm seizures we will go up to a 4:1 ratio (if her body is tolerating the diet, that is). And if she continues to have the spasms after 1 week on 4:1 then we will wean her off the diet and start a new treatment.

The new treatment options are this:

Sabril: Medical name is Vigabatrin. It is a short term medicine that Rayleigh would take every day for 2-3 months. It is specifically for spasms. Sabril can cause liver problems, irritability, sleep issues, and there is a more common effect of visual impairment. It is known to decrease her peripheral vision slightly. Like I said, she would take this medicine for 2-3 months (while continuing Clobazam) and then she would be weaned off the medicine and Clobazam would be the maintenance medicine. Supposedly whatever results she gains while on Sabril will remain when she is weaned off the medicine and stay on Clobazam.

ACTH: This is a steroid. It would a shot, that Michael and I would give her daily for 4-8 weeks. She would be on the steriod and Clobazam at the same time. It is similar to Sabril in that they are both short term but should produce long term results. The ACTH is known to significantly suppress the immune system so the neuro has already advised that if/when we go down this route that we should keep Bug in as much as possible during that time. The steroid also has side effects of causing high blood sugar levels, irritability, and sleep issues. The steroid requires a hospital stay to start so they can show us how to do the shots and monitor her levels to make sure that Bug's body is handling the steroid alright.

Rayleigh will have another EEG in 2 weeks if the spasms start to look controlled by the diet or 4 weeks if we need to start one of the treatment options.

Her neuro said that is completely up to Michael and I as to whether we'd prefer to try the medicine or the steroid start.

The worst part of this visit with the neuro was not this information though. The worst part, was that the neuro told us that Bug will always be developmentally delayed. There is an extremely high chance that she will never catch up. There is a slight possibility that she may still sit up, still talk and even may walk in her future. Chances of her talking before age 4 are very very slim and chances of her sitting or trying to walk won't improve until 5-8 years old. Michael and I were just devastated. Yesterday was a very hard day for both of us. The only thing that cheered us up all day was that Bug kept giggling. Like she was trying to tell Mommy & Daddy to be happy and that everything will be fine.

We are in a much better place with all of this today. I don't know why this happened to our baby girl but we will NEVER stop loving her and we do not love her any less than we did before. She is an amazing little girl and just a ball of love. Bug is a joy to be around.

Tomorrow is Christmas and we will focus on making this a wonderful holiday for our baby Bug. We will shower her with gifts from Santa to entertain her and hopefully help with her development and intrigue her to want to play!

Merry Christmas to all! May God bless your family during this holiday season :)

Sometimes You Don't Want Your Gut Feeling to Be True

As you can tell by the title of this post, I am not in the lightest of moods tonight. Bug had her checkup with the neuro today. We went in with 2 pages of questions to ask about Bug's behavior and things we've noticed. We got a lot of answers and here's pretty much the gist of it.

Rayleigh has nystagmus. It's an eye condition, not necessarily a brain condition. Simply put, nystagmus is when the eyes shake. In Rayleigh's case, her eyes only shake occasionally and not constantly. They shake side to side when she looks far to her left or right and I've also seen them rotate back and forth slightly when focusing. Her neuro said that based on what we know about Rayleigh and that she hasn't always had nystagmus that her condition was probably brought on by her seizure control medicines. Nystagmus as a result of seizure control medicine is most commonly attributed to Phenobarbital but can be a side effect of many seizure control medicines including Clobazam which Bug has been on for over a year now.

If Bug's nystagmus is a result of medication she will have the condition for as long as she is on the medication but on that same note, if it is the medicine causing the nystagmus then it will go away if/when she is off that medicine. We are making an appointment with Bug's neuro-opthomologist to find out more about nystagmus.

While we were talking with the neuro about this, Bug did her head drop. The neuro asked if this was the same type of head drop we had shown him on video back in October and we said yes. He then told us that it looked like a seizure and she did the head drop 2 more times in that 2 minute period. The neuro asked questions like when she does them (mostly when she's sleepy but also randomly rarely), how she reacts after a drop (like nothing happened, but sometimes a big head drop takes her a few seconds to recover and "come to") and then I told the neuro about this new thing that Rayleigh as been doing this week. When she's awake she will start smacking her lips, arms will go out slightly and then come back in and eyes blink.

He then confirmed (not 100% without EEG but pretty much) that we are describing myoclonic-astatic seizures.

The "head drops" are a drop seizure.

When she has the myoclonic-astatic seizure followed by a small head drop in the way that Bug does it is similar to last year when she would have a partial seizure that was followed by myoclonic jerks.

So what we thought was 12 weeks of seizure freedom was really just 12 weeks of partial onset seizure freedom.

There are 2 types of medicine that Rayleigh has not tried before that are used to control myoclonic-astatic seizures: Lamictal and Depakote. It could cause more seizures if we start one of these new medicines along with her existing medicines while on the diet. Plus, these both seem to have nasty side effects that are increased in children under 2 years old. But we know what's next to take if we have to get there.

The current plan is this: We have already increased her dose of Trileptal back up to 1/2 pill morning and 1 full pill at night along with the 1 pill of Clobazam 3 times a day. We can go up higher on the Trileptal if we need to. We will also be upping the ratio on her diet which has shown a lot of success in many cases.

The neuro says that there are several explanations for why Bug's seizures went from ONLY happening during sleep to completing changing form and happening awake. The most likely reason being that her brain is maturing as she grows older. The least likely reason being the diet.

The only good thing to take away from knowing that these have been seizures is that they do not physically hurt her or affect her mood. I do still believe that they are hindering her development though :(

The neuro is ordering an EEG with an immediate visit with him right after it's done to discuss results so I'll repost after that. It should be within the next 2 weeks. Until then, we will love our Bug just the same and enjoy Christmas with her!

So Many Thoughts

It's the Christmas season once again. Such a beautiful time of year here in Oklahoma! I love the cool crisp air outside and the giving feeling and the bright lights on the houses at night! I'm hoping Bug is enjoying it as much as me. This weekend we're taking her to the light shows around town, that was one of her favorite activities last year! They're easy for her to see and the Christmas music you tune to in the car is upbeat and she sits on my lap while Michael drives through the park :)

This Christmas we feel like we've already received a gift that is better than anything Santa could bring down the chimney - Rayleigh is 12 weeks seizure free!!

We've also been weaning her Trileptal down by 1/2 pill every 4 weeks so we are currently down to 1/2 pill twice a day! She has so much more energy now! I knew we'd see some good things after getting medicine out of her system but I had no idea how drastic her energy level would change!

While those things are really really awesome I have to say that going into Bug's neuro appt tomorrow Michael and I have a ton of questions! Bug is still doing her head drops that her neuro previously told us he doesn't believe they are seizure activity but because she's still doing them occasionally when she's sleepy I want to know more about them.

She's also recently started waking up startled about 10 minutes after falling asleep. What I mean is, she falls asleep and everything is calm and fine and then she pops her eyes open and looks straight up and arms slightly go out for about 2 seconds and then she relaxes, looks around and sucks on her pacifier and then goes back to sleep shortly after.

I'm also pretty concerned that her development isn't improving any faster than it was before seizure freedom.

I just feel sometimes like as soon as we figure something out a whole new issue feels our mind.

I'll repost soon after her visit with the neuro Thursday.

Better and Better

Rayleigh is doing terrific!!! I don't know what else to say about it!

She is 9 weeks seizure-free!!!

9 weeks in a row of no seizures! It's still unbelievable to Michael and me. She went from at least one seizure every single day to 9 weeks straight seizure-free!

I'm not going to lie, it's not like she's going through some overnight change and suddenly she's sitting, talking and all that. She's still behind developmentally but without the seizures making it worse she stands a really good chance of catching up. Now every physical therapy session sticks with her and she's making small improvements every day! The major thing we've been noticing this week is her vision improvement. She looks for me in a room and she has been making really good eye contact with those she knows!

We've been incorporating deli meats into the diet through the last week or so. She's eating it really well so I'll need to get in the Ketocalculator and create some more meats using various deli meats and carbs.

Last week, on Michael's birthday, we lowered her Trileptal by another half of a pill.

She went from:
1 pill of Clobazam 3x a day and
1 pill of Trilpetal morning and night, half pill Trileptal in afternoon

to:
1 pill of Clobazam 3x a day and
half pill Trileptal morning, full pill Trileptal at night

She's so much more awake and alert now that she's down in dose by 1 full Trileptal pill. And the best part is that she is still seizure free even after the 2 small reductions in Trileptal!! I hope for her sake that we can make it all the way to NO Trileptal and stay seizure free!

***********************************

A quick side-note story:
Rayleigh was prescribed Clobazam by Dr. Hernandez at Cook Children's Hospital one year ago. It was not FDA approved so we had to fill our prescription at a Canadian pharmacy and have it shipped to us. We had to pay full price for the medicine and about $6-$10 shipping depending on how many months worth of pills we bought at a time.

Well, Clobazam has now been FDA approved!!! We are very excited about this because now we can get it locally and it will be covered by insurance and more doctors will be able to prescribe it for their patients.

On the down-side, immediately after being FDA approved it is illegal to purchase it out of country. This wouldn't normally be a problem EXCEPT it's not yet available in the USA. They expect it to be available in a few months. This is a major issue because Rayleigh only has a month and a half left worth of pills now at the house. We called her neurologist last week and he is going to push through a prescription and contact the FDA at customs to get it to us when we need it. Hopefully this works or I have no idea what we'll be doing! We're working with her neuro on a plan B...

Record-Breaking Seizure Control

That's right, Bug has now set a new record on her seizure-free consecutive days! Her previous longest streak was 17 days (when we first started Clobazam) and now she is at... wait for it...

27 days seizure-free in a row!!!!!!!!

When we had our check up with her pediatric neurologist last week he said that if we went until October 17 (tomorrow) seizure-free than we can start weaning the Trileptal down. The weaning process will be 5 months long. It is a very gradual process so as not to disrupt anything the diet is doing. She is currently on 2 1/2 pills a day so we will take it down by 1/2 a pill a month. We're really hoping that once this gets down to a better level she will seem more alert and not so drowsy throughout the day.

Bug sleeps an average of 9-10 hours at night and then takes a morning nap for 45 mins - 1 hour and then takes an afternoon nap for usually 2 hours. That's a whole lotta sleeping and doesn't leave room for a whole lotta physical therapy and learning activities!

She is still making good progress on her development. Every week at Jim Thorpe with Miss Rachel helps more and more! We are also still working with an occupational therapist that also does some physical therapy from SoonerStart in home once a week.

I read in an excerpt from a book that there is not really a "honeymoon" phase with the Ketogenic Diet. Usually once you gain good seizure-control it is not temporary. If breakthrough seizures do occur it can be traced back to something specific like a "cheat" in the diet or the child being sick or something of that nature and you can almost always get back to ketosis to control seizures. Gosh, I really hope that's true!

Oh, and one more small note: Rayleigh's pediatric neuro looked at her weight gain and percentiles and her BMI, which is at 91% and said that we should call our dietitian at Cook Children's Hospital to lower the calories so that the meals are smaller (but still the same ratio of 3:1) so she doesn't gain too much weight too quickly. We spoke with her last week and she updated the meals Friday so she's been on a smaller calorie intake over the weekend already.