CDKL5 Awareness Day 2019

2015 was the very first year that today became "a day" in our house.  The very first June 17 we all wore CDKL5 shirts and we hung balloons on the CDKL5 awareness yard sign that was placed at the edge of our yard.  We had only known what life with CDKL5 was for technically 4 months and 6 days but really only for the previous 7 weeks after we first learned that CDKL5 WAS the reason behind Sonzee's lack of eye contact, her lack of ability to hold up her head, her lack of ability to give a social smile or to roll, and the reason why she was constantly seizing.  Since that very first June 17 I have always struggled with this day, staring at a blank blog screen but eventually figuring out the best way for me to give homage to a day I rather not know exists.

My biggest struggle with this day is that my brain is conflicted on what the purpose of this day should be.  I wonder if I am supposed to give a little more insight into what exactly life with CDKL5 really is.  I wonder if I should share statistics of the prevalence of CDKL5.  Then I wonder if it is better for me to not say too much, after all, there is surely a newly pregnant friend of mine scrolling through facebook who certainly does not want to know that such a life like this does exist and could happen to them.  I wonder how much I should share as far as how much Sonzee struggles or post one of her seizure videos that inevitably gets cut off at the 10-minute video mark because that is all the seizure tracker app allows.  I wonder if any part of this actually makes a difference to anyone who is not living this life and if so what type?

Bringing awareness to CDKL5 doesn't help prevent the diagnosis occurring to the projected 2 currently undiagnosed families wondering why their child is experiencing seizures, delays, and or difficulties each week.  It doesn't change the fact that based on the projected rate of incidence there are thought to be 30,000 individuals living with CDKL5, with the "official" diagnosed count between 2,000-3,000.  Knowing about CDKL5 does not change that 1:40,000-60,000 births will result in a new baby joining the family. 

Wearing lime green, a CDKL5 child's "team" shirt or some article of clothing with CDKL5 most likely won't bring about questions or do much to strangers walking by, yet all of us families essentially beg others to do so for us.  When you stumble across one of those requests you might continue to scroll by, thankfully it does not really apply to you, and luckily you dodged this really awful bullet.

As I sort through my emotions about awareness and balance out the ups and downs of this roller coaster of a journey, I am left with the feelings of respect and honor.  Today is a day that some of us will always love to hate and or hate to love, but regardless of which, we will shout about CDKL5 from the rooftops to anyone who says even one word to us.  It is a day to simply be aware of all that those of us with a child diagnosed with a CDKL5 diagnosis have lost but simultaneously gained.  It is 24 hours devoted to so many people coming together due to an unfortunate common bond as we try to do something, anything, whatever it is we can to try and make our children's lives the best they can possibly be.  And so to that I say, please help us spread awareness of CDKL5.  Please help us get our stories heard so we can continue research efforts to maybe one day, hopefully during our children's lives, bring about some sort of permanent formal seizure control, and or some type of way for them to make-up all the milestones that they continue to miss.  If for no other reason, please help support us on our journey as we simply parent children who could have very easily been yours.

But just because

As we finished our three day holiday weekend, my older kiddos and I sat on the couch deciding what book I would read to them.  I have an Alice in Wonderland series from my childhood and originally I grabbed that.  Naturally, that opened the way to my son announcing it was "girlie", and my oldest daughter wanting me to read a "Babysitter's Club" book instead, and me saying "It's not girlie, and no we aren't reading the Babysitter's club".  As I opened the book to begin reading my son ran excitedly over to me, handed me "The Phantom Tollbooth", and I said, "Oh, yes, this will be great".

I have to admit I have always known about this book, but honestly have never read it, so part of my desire to oblige my son completely came from the fact that I wanted to read this.  So the four of us sat down together and I began to read.  As I turned each page and read the words I kept thinking how amazingly quotable this book is.  It seemed as if every other line was one I wanted to burn into my mind to reference at a future point. Some of the phrases were cute, some made me chuckle, and others I felt spoke to me in a different way.  We only got 4 chapters in when it was time for the kids to get ready for bed, but I knew there was a quote I had not come across that somehow would be the perfect quote for me to relate to Sonzee.

I posted a picture on Sonya's Facebook page and mentioned how I had hoped Sonzee wouldn't have another seizure but of course within 10 minutes of posting that my hopes were dismantled.  During the 10th day of CDKL5 Awareness month, during neither her first nor most likely last 13+ minute seizure of the day, my mind wandered.   Should I post one of her seizures? Does posting one actually brings more awareness or just bring about pity?  If I posted it would people even want to watch it? I am pretty sure those of us who have to, would much rather not.  If people watch the video would someone comment about our lack of giving her a rescue med 2 minutes in?  I responded in my mind to that comment with the blatant fact that rescue meds do not stop her seizures any quicker than her body chooses to finish them and inevitably within 4-5 hours another one would occur again.  

Returning back from "seizure land", I was wondering if it was time to email her epileptologist and ask for the new medication titration schedule.  Feeling all sorts of weight from watching her endure all that she just had and not even feeling a glimmer of hope that we would ever stop her from this sort of suffering I came across the most clarifying quote.  Maybe CDKL5 won't ever be a string of characters that is known to everyone or will make the daily news in every city, in every state, in ever country, or on every continent.  Maybe there won't ever be a child with a CDKL5 mutation who makes it onto Ellen or is born to a world figure, actor, or famous athlete.  Maybe seizure control or the ability to be more typical won't ever be in Sonzee's cards, and Maybe finding a cure for CDKL5 won't, sadly, fall during her lifetime...

CDKL5

Jun 4, 2019, 2:59 PM

"Hi Randi,
I just got Sonya’s WES back today – it found absolutely nothing else (other than her known CDKL5 mutation). There were not even any variants of uncertain significance. And mitochondrial sequencing was normal too.
So at least we know there’s nothing we’re clearly missing in terms of a second diagnosis."

4 years ago Sonzee received her official diagnosis.  It is the reason behind her seizures, the reason given for every other situation she has encountered since.  The reason that has never given me any excitement as an answer because there is no solution to the issues with an answer like CDKL5.  It was a reason and an answer that just wasn't good enough, so we sought for more clarity, and just shy of 4 months since we did so the answer remains the same.

CDKL5.

While I should be ecstatic that her only mutation is CDKL5, I am honestly completely devastated.  I feel the wind has been knocked from my lungs all over again.  Every single one of the additional diagnoses that she has acquired since she was a newborn baby are all due to a spelling error on one gene out of the 20,000-25,000 that she has in her body.  How can one little gene carry that much weight, how can it hold so much responsibility, how can it create so much havoc? 

I wanted there to be something else to share the burden of all that has happened to her body.  I wanted to be told that her brittle bones and her horrific GI system were not all due to her CDKL5 mutation.  After all, there are not as many children who have either of those issues in the same manner as Sonzee, so there had to be another reason why, another gene to blame, another thing that could share in the cause, another thing "Sonzee related" that explained why.

But here we are, 4 years into her journey and 15 years since the CDKL5 gene was identified in 2004, and children like Sonzee are still seizing 100s of times a day, are still unable to walk, are still unable to talk, are still unable to live independently, and are still dying, all because of a "tiny" mistake on an extremely imperative gene for typical function, all because of CDKL5.

Becoming wise

I have always been a type A person, and one of my biggest challenges is relinquishing any type of control.  Add that trait to having a medically complex Sonzee where a slip up in the majority of her care could result in catastrophic results, and well you get a neurotic, anxiety-ridden, overprotective, helicopter mom Randi.  I would say it sounds like it could be a good thing, but rereading the previous sentence, it sounds just as crazy as it is.  The reality is that on one hand, it really is a good thing because when life depends on not making mistakes or following procedures specifically, you need to make sure there is one person in charge, the downside is that then it falls to one person, and the fact is, there doesn't have to be just one person doing it all.

Yes, there is a specific protocol for some of Sonzee's medical care that does require a specific set of directions to be followed.  Does that mean it has to be done in the same exact way by every person? No.  Does that mean if it is done slightly different than it is wrong? No.  Does that mean that I am ok with the slightest alteration of my perceived only way? That would be a BIG FAT No!  The truth is, as long as the main components are followed, in theory, she will survive with someone else performing the care, and raw truth time, the fact that I have made it so I have to be in total control has placed an unnecessary burden on me, and created a situation where I am more apt to make a mistake than someone else.

Coming to this revelation over the last couple of months has been both scary and refreshing.  Caregiver burnout is real, it exists, and it can be dangerous for so many reasons.  There is a reason jobs come with paid time off.  There is a reason for fall, spring, winter, and summer vacations.  Everyone needs and deserves a break.  Everyone needs a chance to rest, recharge, and be given the opportunity to come back to work with a fresh pair of hands and a clear set of eyes.  I can just about promise that the majority of moms of special needs hardly consider the fact that they really really really need a break.  But maybe if we all realize it honestly isn't even just for us, but for the well being of the entire family unit, it might be considered more often. 

Now realizing this truth and doing something about it are totally different things, but awareness is key and knowledge is power.  So like everything else I have learned on this journey, it is the inchstones that count.  So this morning while I write my blog post sitting at my best friends kitchen table in Florida while drinking a venti Starbucks coffee, I trust that I have left Sonzee in the most capable hands, with an immense amount of love, and I did it so that I will come back to her better than I left her, with a refreshed point of view and some solid hours of sleep to carry me through until the next time I am wise enough to know that I too need and deserve a break.

Wish I could...

On Saturday night my three oldest children and my nephew who is only 7 months older than Sonzee had a much anticipated, by all, camping sleepover in a tent in my parents' backyard.  The kids planned this sleepover weeks ago, my father has been eager for it to happen (probably) literally forever, and no one was more excited that Shabbat ended then all of these participants.  I loaded the 4 kids into the car filled with backpacks, stuffed animals, pillows, books, games, and an overabundance of energy and excitement.  I had a quick detour with our middle daughter so the initial drop off occurred and we returned about an hour and a half later.  Despite returning twice, neither drop off included Sonzee, she was at home seizing in her room.

During my second return I popped in for a bit to steal some dinner, grab a smores, and take some adorable pictures, but didn't want to take away the kids parent-free, way too much candy, junk food, and Gatorade, typical grandparent spoiling grand event that was occurring, so I left shortly after I arrived.  I returned home to two little people tucked into their beds, and within 30 minutes Sonzee's pulse oximeter began ringing.  I am partially relieved she is back to these atrocious seizures because when it begins to ring it is a guaranteed seizure when it alerts, there are no false alarms, and no wondering if we might have missed one.  6 minutes and 5 seconds later she was finished, I tucked her back under the covers, I disconnected her from her tube feeding because the pump was ringing they were finished, I checked her central line, made sure her TPN/Lipids were not leaking and everything was secured, gave her a kiss and walked out of her room.

After I got ready for bed I opened this mindless candy crush meets decorating game on my phone that I play religiously at night before I fall asleep.  I stared at the start screen frozen as if I forgot how to press the green play button staring back at me.  My mind unable to turn off, was unable to forget the fact that Sonzee should have been tucked into the tent in my parents' backyard with her siblings and her currently same-aged cousin.  I cannot tell you how often I forget her cousin and her are the same age for 5 months and 5 days every year.   I cannot tell you how often I forget that Sonzee is a school year away from Kindergarten, the same grade her middle sister is graduating from in just a few weeks.  Of all the things I constantly forget about her, I wish I could forget that her age puts her perfectly alternating with her cousins and that she should be at their school having recess with her older and younger cousin.  I wish I could forget that she should be having a 1:1 sleepover with her bubbie and pop-pop when they are in town, that she should be having play dates with her cousins and annoying her sisters when they have friends over.  What I really wish is that I could forget everything that she should be doing if she had only had a functional CDKL5 gene.