Home Sweet Homa

Hmmm... Where to start? I guess I'll just dive right in. After months and months of Michael trying to transfer his job to Colorado we thought, "Well, maybe there's a reason this isn't falling in to place despite our efforts." 

That's the small thought that led to a grand discussion and ultimately, the decision to stay in Oklahoma. At least for the foreseeable future. 

Our decision was not made lightly but once it was spoken aloud, there was a wave of calm that went through me. It felt like I had finally released a breath that I had been holding in for a very long time. 

Rayleigh is the most important thing in my life. Do I think it would be beneficial for her to have different options in CBD oils and access to THC oil to use as a supplement to the CBD oils? Sure. Do I think the answer is to uproot and move to Colorado for their supply? Not right now. We have seen some great stuff from high CBD oil use. In fact, Rayleigh is currently taking Charlotte's Web Hemp Oil. She is still having 6-10 complex partial seizures a day, they are still wearing out her little body, BUT she is having random days of only 2 or 3 of these seizures. And, no joking, her eyes are so much more alert. The girl is AWAKE when she is AWAKE! We just recently increased the dose (you have to titrate your way up to an optimal dose slowly) and we have seen a little bit of movement coming back, mostly wiggling her arms or moving her head! 

So, I'm not sure if high CBD oil is going to be our answer for seizure control or not.
But I'm going to keep on trying until I have reason to stop. 

To everyone that donated toward our Colorado move: THANK YOU! You have such loving hearts. That money was set aside and has been/is being used to buy the Charlotte's Web Hemp Oil. Each bottle is $250 plus shipping, so your help is soo appreciated! 

Oklahoma recently passed a bill that allows only high CBD oils to patients under 18 with intractable epilepsy. Rayleigh fits the criteria (duh.) and has her neurologist's blessing. I've got some issues with the new law, the biggest being: How the heck are the patients to get the oil when it's still federally illegal for the providers to ship any form of medical cannabis outside of their state? 

{Charlotte's Web was classified as Hemp Oil this past year and is currently shipping to all 50 states under that pretense. All other high CBD medical cannabis oils that I know of are NOT shipping nor classified as Hemp.}

After Oklahoma passed the bill OU Medical Center announced that they will begin the Epidiolex trial. This is for a big pharma version of medical cannabis, it is very high in CBD and extremely low in THC. I have heard CDKL5 success stories from the clinical trials of Epidiolex in other states so I am going to contact the coordinator and inquire about getting Rayleigh into the study. I will not put her in the study if it is controlled with a placebo. Why would I take her off a for sure high CBD hemp oil to put her in a study with the possibility that she gets the placebo?

In closure, we have a plan with her neurologist to wean her Banzel (one of her seizure medicines). Once Banzel is out of her system we will start either Fycompa or Sabril. She's been on Sabril before with good seizure control but some side effects, she's never been on Fycompa and while it's only been available for about a year I'm hearing good things. Decisions. Hopefully the medicine that we decide on and the CWHO will give Rayleigh enough seizure control that we can get back to weaning Onfi (the monster seizure medicine). 

Thank you for your patience and love while we were in limbo about the move. 
Oklahoma, you have a strong hold on this family!

And now, some pictures from the past year!

My Head is Spinning

My sweet Rayleigh is not doing very well as of late. She has started having tonic clonic seizures. These seizures are also known as grand mal seizures. They affect the entire brain. She starts by slowing tensing her entire body and curling into a very tight ball - which makes it more difficult for me to get the VNS magnet on her battery. Then after 10 seconds or so of tensing she finally relaxes, BREATHES, and then goes into the clonic phase of the seizure. For Bug, right now that means rapid eye blinking, chewing motion with mouth, sometimes clenching her teeth and sometimes twitching her hands. It is a very dangerous seizure that lasts a couple of minutes on average for Bug. These minutes are terrifying and every move I make is calculated: using the magnet, getting rescue meds close and ready, making sure she doesn't hold her breath too long, consoling her. These seizures have already taken away her ability to hold her sippy cup all by herself. She also went through a loss of appetite recently and her sleep pattern has been off for some time (though we're not sure yet if those are related). 

Please send prayers that we are able to get these under control for her soon so they don't do too much more damage or get worse! Thank you!!

On a happier note, Rayleigh Bug seems happier through the day! Although she is going through a phase where she won't/can't smile as easy, I can tell what she likes and know when she's happy. She is really soaking up snuggles right now which I can't complain about!

I don't really know what else to say at this point. There is a lot happening in our world and I will share about that soon. I suppose now, while Rayleigh is asleep, I should get some shut eye because I'm sure she'll be awake around 4am again tonight - at least it's a happy-awake and not uncomfortable baby!

Return of the Tonic Seizures

I haven't  posted in a while because everything around here has been busy and we have been in quite a routine and there wasn't really anything major to report but unfortunately, that did not last long.

Just over a week ago Rayleigh started having tonic seizures again. This is where her body tenses and her breathing slows drastically. Her face looks worried while it happens which is the most heartbreaking part. Her seizures before this were more like head drops, pauses and other 1-3 second seizures. These tonics last about 30 seconds total give or take. We use her VNS magnet as soon as we notice the seizure and that usually shortens the seizure or stops it all together but sometimes it doesn't seem to help with the seizure at all. Bug is having about 5 of these tonics a day.

When they first started it was very stormy here in Oklahoma and we attributed the increased seizure activity to the barometric weather pressures because it always seems to have some kind of negative effect on her seizures. But we soon realized, in between storms, that this was much too worse to be caused by weather changes. 

We spoke with her neuro and he said we may need to make some medication or VNS adjustments but first he wanted us to try using her Clonazepam PRN, 1 pill twice a day for 3-5 days. After 2 full days on the Clonazepam we noticed a decrease of seizure activity BUT her mood was inconsolable. She was literally irritable and uncomfortable all day long, so we didn't do any Clonazepam on the 3rd day and she started getting calmer and happier through the day and the next day. But today, she is unhappy again.

We've doing rounds of Tylenol/Advil and providing lots of stimulation by rocking, bouncing, swinging, and snuggling but everything is only temporary relief. Her neuro isn't back in the office until Wednesday and we see him then but I, being mommy, want to fix her now. Moms know that there is no worse feeling than knowing your child is hurting and you can't do anything about it.

I don't normally reach out for prayer request but we could use some now. Please pray for Rayleigh's comfort to return and for her pain to vanish - and pray that Michael and I can find a way to keep our girl happy until we can see the doctor about this. Thank you so very much :)

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.

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.