Jet-Setting Clinical Trial

Wow. I cannot believe it has been OVER ONE YEAR since my blog post. I think of posting so very often, and now that I am actually sitting down to do it there is so much to say.

The big thing going on in Rayleigh's life, in our lives, is a clinical trial. This entire post will be focused on just the trial so I get everyone caught up on that first. I'll start you off with the way we learned about the study...

In December 2016 a fellow CDKL5 mom reached out to me and told me that there is a clinical trial happening now for children with a nonsense mutation of CDKL5 or Dravet syndrome. Not all children with CDKL5 have a nonsense mutation, but Rayleigh does. THE DAY that I read her message we were on our way to a neurologist checkup appointment so I brought it up to Rayleigh's doctor. The neurologist looked it up right there during the appointment and we decided that it sounded promising and could be worth a try. The timing of that mom's message to me couldn't have been better.

Here are some key points:

• The medicine is called Ataluren
• Ataluren works unlike most seizure medications which calm or numb the brain pathways, because Ataluren is meant to fix why the seizures happen in the first place
• A genetic mutation of CDKl5 affects the ability to make the proteins that are essential for the brain - the doctors are hoping that Ataluren can allow the proteins through properly, picture a bridge over the broken mutation
• It is not a QUICK FIX medication, it is recommended we give it time to do it's job in her brain and her body
• The clinical trial is in New York City at the NYU Comprehensive Epilepsy Center under Dr. Devinsky and his amazing team
• We would be required to go to NYC every 4-6 weeks for the first 7 visits, then the 8th is 6 months after the 7th visit
• The trial is done in 2 sessions; Session 1 is drug or placebo, then a 4 week washout of neither, then Session 2 is drug or placebo WHATEVER we didn't get during session 1 (So if we got placebo during Session 1 then we would have drug Session 2. We are guaranteed to have placebo for one 3-month session, and drug for the other, we just won't know which is which)

You can learn more about CDKL5 here and all the information on the Ataluren trial here.

To simplify this novel I will just say that I called the coordinator, Rayleigh qualified (yay!) and there were just a couple of not-so-minor details to work out.

The first was a decision to be made.  Rayleigh cannot be on any form of cannabis to participate in the trial. Michael and I talked about this for a few days, but in the end decided to stop the CBD oil and go for the trial. In my mind, we wouldn't be looking at trying this new medicine if CBD was doing everything we hoped anyway, right? 

The second was financial. The foundation that was originally on board to cover all travel expenses for the CDKL5 and Dravet families participating from out of state dropped out. The trial requires at least 8 trips to New York City for the checkups, labs, medicine, forms, etc. There is an amazing foundation we learned of through the NYU Comp. Epilepsy Center called FACES. The FACES organization will provide the hotel lodging for every one of the trips necessary - and in a hotel very near the epilepsy center!

But even with the lodging covered, there was NO WAY Michael and I could afford for the 3 of us to fly to NYC that many times in a year. It just isn't feasible. I looked online for foundations and grants and was overwhelmed, but nothing that seemed to provide what we needed. I reached out to Rayleigh's neurologist, desperate for advice, and she reminded me of the Isaiah Stone Foundation. I emailed them and filled out a grant application for the travel expenses for each trip and it was fully accepted!! Because of them we were able to accept Rayleigh's spot in the Ataluren clinical trial!!!

Whew. At this point, September 2017, we are more than halfway through the trial - we have 5 trips and appointments behind us.

Session 1 started in May and ran until July. Then there was a 4 week washout period in which we stopped the trial medicine and only gave her her usual medicines that she's been taking for years. Then about 3 weeks ago we went back to NYC and Rayleigh started Session 2. I won't go into speculation of what I think she's on now vs. Session 1 here on the blog because everyone is having different results and I don't want to set things in other trial participants minds. What I will tell you is that Session 2 ends in November and then we get to come home with FOR SURE Ataluren and administer that for 6 months knowing what she is getting. I am really ready for that section of this trial, you guys!

This has been an exciting, nerve-wracking, tearful, joyful, hopeful journey. My girl is so very brave and stronger than words can describe. 

Each trip we try to squeeze in a little fun for Rayleigh. Some trips have been more seizure-filled than others so we keep those days low key. We just every moment with Rayleigh to be special for her. She has seen Times Square, loves Central Park, she has enjoyed shopping, and on our last visit we took her to the American Museum of Natural History and she really liked that! Our girl loves going for neighborhood walks or walks around the parks and these trips are like that for her - but on steroids! We walk everywhere and there is so much for her to see. 

We feel so fortunate to live in a day that science continues to push back against these terrible seizure disorders, working to find treatment. And we are just thankful for this opportunity to give Rayleigh a better quality of life. 

I'll leave you here some of my favorite pictures from our clinical trial adventures in New York City!

Trip #1 April 2017 - Rayleigh LOVES the flower shops on the sidewalks

View from the plane on trip #2

Inside Grand Central Station

Some appointments are long, administer meds wait for reaction, draw blood, etc, so we bring her portable DVD player along, visit #3 she watched Moana between blood draws

Rayleigh loved the penguins at the Central Park Zoo!

She loves when the seatbelt light comes off and she can lay on our laps on the plane!

Your love, prayers and good vibes are always, always appreciated! And I want to give a HUGE shout out to all of our family and friends that have stepped in and stepped up to help us make this happen. No deed has been too small or unnoticed - from providing Rayleigh's in-flight entertainment to caring for our 2 puppers and the house during each trip we make. We love you.

Lastly, please consider making a donation to any of the foundations I have mentioned here, the CDKL5 foundation, FACES, or the Isaiah Stone Foundation! We are proof that these foundations really make a difference to so many lives!! 

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.