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!! 

Fun, Sun... & Back Inside

Rayleigh has had good weeks and bad weeks since our Make a Wish trip to Disney World. The good weeks are really good and the bad weeks still aren't as bad as this time two years ago - or even as bad as this time last year which was during her Charlotte's Web Hemp Oil Days. 

We switched Rayleigh from Charlotte's Web Hemp Oil to Palmetto Harmony CBD Oil a few weeks before the Disney World Trip in February. It has been better for Rayleigh at seizure control. In April and May she had several days where she only had 1-2 seizures a day (from 5-8 last year). And the "bad weeks" that I mentioned have nothing to do with seizures really, in April Rayleigh's chorea movements flared back up during a short stomach bug that she had. Then they appeared every week but only for a few days. We were keeping Rayleigh's neurologist updated but weren't concerned because this has happened before with her involuntary movements. 

But then she had a flare that lasted 10 days and that just wasn't her norm so we contacted the neurologist and she recommended started Artane/Trihexyphenidyl. This is a medicine commonly used to treat Parkinson's but it helpful for similar movement disorders as well. Within 1 week her chorea movements, which were quite aggressive at the time, subsided almost completely. Rayleigh was back to falling asleep on her own at night without the disruption of constant movements and she was able to enjoy her days again! And her favorite part - she was able to get back in her routine of school of therapies! When her movements are violent we pretty much have to put everything on hold because she needs constant one-on-one care to prevent her from hurting herself and to keep her calm. Part of Rayleigh's chorea includes anxiety and possible depression - heartbreaking.

After we got the chorea pretty well controlled Rayleigh developed Dystonia. Wikipedia defines: Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures
Our Bug's dystonia involves her head turned and locked to the right, her legs want to be bent, and she keeps her shoulders far back so that her arms hang back too. 
We went up on the Artane medicine (two times actually at this point, to 3 ml twice a day). This seems to be helping although she still has random days of strong Dystonia which is puzzling. Our girl is a puzzle. A beautiful, confusing puzzle that you just want to solve.

This blog is titled the way it is because one of the major side effects of Artane presenting for Rayleigh is heat intolerance and sun sensitivity. This is a first for us really, she's definitely been on medications that can cause these effects before but she's never experienced that side effect luckily - until now. It's been a huge bummer for us this summer. I'm having to find fun things to do indoors and that's just not where she loves to be in the summer, usually. Rayleigh loves to go in the backyard with bubbles, and books, and coloring books, and children's music, and Mommy. We used to spend at least an hour on a blanket in the backyard any given summer day. Now, her maximum time in the sun is 15 minutes and in the shade maybe 30 minutes depending on the humidity. She starts to get red in the face and little sweat beads, even heat exhaustion. I'm so nervous about heat stroke that at the first sign of her getting too warm I immediately bring her indoors to the air conditioned house. 

Hopefully this side effect wears off over time as her body gets used to the new medication. Until then, we will be at Target, the library, and the science museum in hopes that we can return to the zoo and walking parks soon! 

On the lower dose of Artane she was still able to be in the sun for a little bit before getting too hot. My sunshine angel.

Daddy added these lantern lights on each end of her bed - I think she likes them!

This was taken right after getting outside, a few minutes later was the first time that we had to go back inside because she was getting too hot. 

We have lots of fun indoor activities like Kinetic Sand, manicures while she's in her stander, switch activated Minnie Mouse toy, reading stories, coloring together, making crafts together, and having friends over for play dates!

One last thing I should note is that her seizures are drastically lower these past few weeks. She's even had some seizure free days!! Most days she only has one seizure, if there are other factors in play (constipation, too hot, full moon, sick) then she might have up to 4 but that has only happened twice since the change. The change being fewer seizures but having chorea/dystonia. We love her neurologist and are working together to lessen this dystonia without disrupting the seizure control she has! Her neurologist believes that the exchange of seizures and movement disorders are because her brain, all children's brains, is changing as she gets older. The pathways develop and new things can evolve for children with neurological disorders. Let's hope that we can get the dystonia calmed down and keep the chorea movements and seizures at bay - in a perfect world! 

Rayleigh's Wish Come True

Three weeks ago from today we were boarding

an airplane with Rayleigh for the first time.

Our destination? Disney World! 

Make a Wish Oklahoma granted Rayleigh the most magical trip to Disney World. Better than we could have even dreamt up! Rayleigh, Michael and myself were sent to Orlando, FL to stay in the most exclusive resort you have ever heard of! It is called Give Kids the World Village and only families going on the Disney World trip can stay there. It is almost fully run by volunteers and everyone staying there has a big commonality - we have a child facing a life-threatening illness AND love Disney! 

Rayleigh did wonderful on the flights - not a single seizure on the airplanes! 

Rayleigh got to meet the pilot and see the cockpit!

Enjoying a little Frozen on the flight :)

We were greeted at the airport by a GKTW volunteer who helped us get the
rental wheelchair van that Make a Wish arranged for us!

So from here I will just share a bunch of pictures! 

Day 1: Magic Kingdom

She was mesmerized by Mickey!

We have arrived at Magic Kingdom!

Rayleigh was loved on by so many princesses that week!

On the monorail back to the car at the end of Day 1
Can you tell that she enjoyed Magic Kingdom?!??

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Day 2: Animal Kingdom in the morning and afternoon & Hollywood Studios in the evening

Rayleigh with Mayor Clayton - the Mayor of GKTW Village

She LOVED the Festival of the Lion King show!

Excited to go on a safari ride!

When we first arrived at Hollywood Studios we went to a Disney Jr. play and Rayleigh loved that!  Then we got to meet all of her favorite Disney Jr. stars!

Doc McStuffins

Jake from Neverland Pirates

Sofia the First

Daddy even got to Nerd Up in the Stars Wars Launch Bay

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Day 3: Epcot in the morning, then back to Magic Kingdom!

Rayleigh got to pet a horse at our village before breakfast on Day 3!

We didn't last long at Epcot. Rayleigh ended up having her first bad day, a cluster of seizures threatened to ruin the day starting at 10am. We quickly sought reprieve at the First Aid station in Epcot and because the seizures just kept coming hourly, we ended up staying in the station over 2 hours and had to give her a rescue medication while there. Luckily it is one that wears off fairly quickly, but it sedated her for almost 3 hours. After she started waking up we headed to Magic Kingdom. But we were able to see some neat things on the way out of Epcot ;) 

Epcot's Flower & Garden Festival was going on while we were there

Magic Kingdom Princesses:

On Day 3 at Magic Kingdom she went on the Dumbo ride, Peter Pan's Flight, It's a Small World, and the Magic Carpets. She really really enjoyed every single ride! After riding rides and meeting princesses we found spots near Cinderella's Castle for the nighttime show and fireworks. She really got a kick out of that, too! Our girl is definitely a Disney girl!!! 

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Day 4 also turned out to be a pretty seizure-y day. We mostly explored all of the fun things to do at Give Kids the World village where we stayed! We also went out to visit Disney Springs for some shopping and lunch. We got back to the village in the afternoon and just in time for some very special visitors! Rayleigh's Grandma, Uncle and Aunt drove in to stay with us that night and go to SeaWorld with us the next day!! 

She rode the carousal at GKTW a couple times that week :)
Once in her wheelchair in this spot and once with Michael and I holding her on a pony

Daddy showing Rayleigh a Chewy backpack - no, he didn't buy it ;) 

Rayleigh getting her nails painted at the La Ti Da Spa at the village

She also got some light makeup and a dolphin tattoo! Mommy, Daddy and her Aunt also got aquatic tattoos so we could all wear them to Sea World the next morning!

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Day 5: SeaWorld

Ready to see some penguins!

Good thing we bought a towel at the Shamu Show earlier that day! She needed it as her blanket
because it is literally 32 degrees in the penguin exhibit!

Brr! After this we headed downstairs in the exhibit to watch the penguins swim under water, she liked that a lot!

A penguin caretaker saw our Make a Wish shirts and asked if we'd like to go backstage and pet some penguins!!!!

Rayleigh liked these loud guys! She even threw them a fish (with Mom's help of course)!

It was such a super fun week! This trip was so magical and wonderful and stress-free! Everything was taken care of for us by Make a Wish and Give Kids the World! I know it's cliche but we really did make memories to last a lifetime. We can't think the team that made it possible enough!