CDKL5 Awareness 2020

It is after midnight on many of my friends' Facebook pages.  The June 17 CDKL5 awareness posts are starting to consume my newsfeed.  I read them and the tears fill my eyes.  We are all on different journies, yet the same path, and no matter what, it's a heartbreaking one at that.  What is there to say?  How do we really make others aware of the significant impact of one teensie tiny genetic error?  There is no one storming the streets demanding a cure, yet some of us wish we could storm the gates of heaven to see the children who were stolen from us.  There is no one who has found potential cures skipping every potential phase of a trial in order to speedily find a way for those children who are left here to not have to continue to live in silence, enduring thousands of seizures, and with significant developmental delays; yet many parents and family members attempt to make the world aware that something is needed by sharing their individual stories.

I honestly haven't figure out what it takes to get onto Ellen or make a big enough deal that anyone who is a someone will fight for our rare cause.  A cause that isn't reaching into the homes of every single person in this world due to any lack of trying.  I assure you every parent of a child diagnosed with CDKL5 Deficiency Disorder does their damnedest every day of their lives to try to eradicate the nasty impact of this disorder on their child.  It is literally a fight to the death type of attempt, the worst game of beat the clock, and yet sadly many best efforts are just that...efforts that ultimately come up short because sometimes your best just isn't enough.

We have been lucky to have been able to "celebrate" CDKL5 Awareness day for every single year of Sonzee's life and now the first of her death.  Ironically when she was a baby we were told by so many parents of diagnosed children how lucky we were to have a diagnosis at such a young age.  I never felt their extended joy on the topic, and thankfully those parents don't share the same pain we are living now without her.  While there is a sense of relief in having an answer as to why your child is seizing, why they are not making eye contact, why they are not meeting developmental milestones, why they are struggling with feeding issues, why they are unable to be fully functional members of society, there is absolutely not one ounce of luck that comes with having a CDKL5 diagnosis, no matter the age of diagnosis. 

I wish June 17 wasn't another day that is tainted forever.  I wish June 17 meant more to more people and that all of the awareness efforts were not in vain.  I wish that June 17, 2020 was the very last CDKL5 Deficiency Disorder awareness day that was needed to share with the world the devastating effects of a CDKL5 mutation.  And for now, we are left to making Facebook posts that hopefully people share and to dressing in lime green, with the knowledge that some of us don't even have our children to do that anymore.

which one?

I recently participated in an online CDKL5 poll where the question suggested we choose the top three challenges that impact our child with CDD (CDKL5 Deficiency Disorder) the most out of the list of options provided. I made a sarcastic chuckle while I sat at the computer at work typing up my notes from the kiddos I had worked with earlier.  I wondered, "Is this a joke?!  Am I really being asked to prioritize what I perceive as my 4-year-old's biggest struggles from a list of around 10 items?  This has got to be the worst real-life version of the game “would you rather have and/or be?! ever played"  While I appreciate and completely understand this information is vital to assisting with potential treatment options, the concept behind the question and the question itself stirs up so much emotion.

The choices to rank were essentially every deficit CDKL5 could present with in a diagnosed child.  The only one that for us thankfully has never been an issue is lack of sleep, which is typically one of the most challenging effects of having a CDKL5 mutation, but at least one was knocked down on my list.  I am pretty sure she is only spared of that due to her ridiculous seizure activity that results in constant sleeping.  Otherwise, the list was comprised of all the challenges we are faced with and essentially zero way for me to identify which one is of highest priority for her to be rid of. 

She still has uncontrolled, daily seizures, so naturally that is at the top of my list since they are definitely not comfortable for her, they take away her already limited quality of life, and they make her sleep away her days.  But are they worse than her GI struggles? Those struggles for her are insurmountable, so much so that her stomach is completely unable to process even her own bile requiring it to be drained 24/7, she receives a portion of her feed directly into her intestines AND because that wasn’t sufficient to help with easing her pain OR providing adequate nutrition, she also has a central line so she can receive nutrition directly into her veins.  If I had to prioritize maybe this would be of highest acuity?

I do think that GI and seizure control are areas that are most important for researchers to tackle, BUT there was also the option of communication. You mean I now have to decide if our inability to communicate with our child outweighs the seizures and GI challenges?! How do you even explain to someone what it is like to have NO idea what your child is experiencing, thinking, wanting, and or feeling?! Every moment with her is equivalent to playing a game of charades with a newborn baby, EXCEPT she is 4 AND she makes ZERO functional hand/body movements.  I am sure she has plenty of thoughts and opinions BUT they are LOCKED inside her brain with an inability to get out. Even with the eye gaze device, she was provided, it is useless because she is so significantly impacted by her cortical vision impairment.   

In addition to those areas, there was also the ability to sit, bear weight, and or walk.  She does none of the above.  I wish she could at least sit, the amount of benefit that would give her body would be indescribable.  Maybe if she was bearing more weight and could take a few steps she wouldn't be phased with such severe osteoporosis that requires bisphosphonate infusions that we have stopped doing because they negatively impact her quality of life and the benefits do not outweigh that fact?!  Maybe if she were able to get up and move freely she wouldn't have suffered 12 fractures in a year due to significantly weakened bones?  

There were other options listed, but for the sake of the post I will stop here.  I wish there were a way for me to be able to answer what three struggles impact Sonzee the most, which three deficits I would say need curing the most, but the reality of CDKL5 is that her struggles are not limited to just three.  Fixing three or improving three while a great start, does not help when there are at least 3, 4, or more equally as negative struggles left waiting to be fixed.  Maybe I am selfish or wrong for wanting all or nothing, but there is no amount of potential suffering that is okay for any person.  There is no symptom/deficit/etc. that does not need to be cured.  There shouldn't be a priority list or a list that parents should have to choose which challenge is more significant than another.  CDKL5 mutations should just not be able to occur in humans and if they do, there needs to be a way to eradicate every single challenge that comes with it, so no person or family should ever have to wonder which struggle matters more!

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.

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.

It is with sadness...

We had a great Thanksgiving day with some close friends of ours and then we put the big kids to sleep.  Sonzee fell asleep in her favorite spot on the floor and then I went onto Facebook.  As one of the admins of the CDKL5 support group I receive notifications when a person makes a post.  I typically pop over to see what information is being shared or what question is being asked...and that's when I read the news.  The news I foreshadowed as the season began to change almost a month ago, the news that the entire CDKL5 family dreads...the news that informs us that we have lost another precious CDKL5 family member.

Instantly my heart begins to ache as it simultaneously breaks, my chest begins to tighten, and my pulse increases.  Unfortunately I know this feeling all too well because our CDKL5 family endures these losses far too often.  It is a mixture of pain for the family, panic that we could be next, relief for the child that he (in this case) is no longer suffering, anger that this child and his family had to deal with CDKL5, and sheer frustration that in 2016 science hasn't found a way to fix or eliminate genetic mutations such as CDKL5.

No matter how optimistic, hopeful, or positive we are as parents of a child with a CDKL5 mutation there is no winning.  We do our best to make our children as happy and loved as possible.  We give them as many opportunities to thrive as we possibly can.  We make decisions that will hopefully only increase our child's quality of life.  But in the end no matter what we do, we can't beat the CDKL5 mutations themselves.

As the holiday season officially begins as well as #GivingTuesday this Tuesday, I ask you all to consider giving a tax deductible donation to Sonya's Story to help fund crucial research (such as keeping Hope4Harper's cell line maintained for a year) so that posts like this one don't have to continue happening.  I ask you to consider buying Sonya's Story and CDKL5 apparel to help spread awareness of CDKL5 (all proceeds from those sales go directly to Sonya's Story to be given to research institutions to help us find a cure).  I encourage you to help us find a cure!


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Pit

I knew I would find myself here again.  The place where only the 5-character string of CDKL5 can take me.  Sitting here with a pit lodged in my stomach and the tears in waiting.  I have been here before, yet every time I take a break and come back...I am always amazed at how new and fresh the sting is.  It almost feels like it is the first time all over again.  The same feelings flood through me; panic, sadness, anger, emptiness, hopelessness, anxiousness...etc.  I honestly would think that by now I would have developed some personal coping mechanism so I could avoid these days, guess I am not as talented as I had hoped.

Her seizures continue to get worse.  The fact that her epileptologist is amazing and reassured me that what we are seeing are not Infantile Spasms again, is doing NOTHING to comfort me.  I am praying this is not one of those times that my gut is going to win.  I am hoping that it is just the unknown that has me on edge.  I am begging G-d that this WILL be the time I am finally incorrect with my feelings.  It is eventually bound to happen; people cannot bat 1000 forever...or really at all.  I really want to be wrong, but I know something isn't the way it should be.  Yet being wrong would not do much to comfort me either, because either way she is seizing more than I would like.  Why has no one found a cure?

She has a seizure disorder, I GET IT.  I do not want her medicated to oblivion because she has a SEIZURE DISORDER.  Seizures are part of her and I am OK with that, because I know it is a complete crapshoot to get any form of control for her.  I am not even asking for complete control, but just some relief.  A chance for her to at least live a little, to get something out of her days, to simply relax.  Because her days right now...well they just cannot continue this way.  She sleeps, she seizes, she sleeps some more.  Thankfully she has the feeding tube so I have one less stress to harp on, but why is she seizing?  What am I missing?       

I knew toddler years would be a living hell, and not because of the "terrible twos", or "threenager" experiences.  Oh how I would give anything for her to be extra sassy and dramatic in a much less scary manner, I promise I wouldn't take it for granted and I would soak everything all in.  To be honest, I am just praying she makes it out of this stage alive, and in this case, those words are to be taken literally.  There has to be something I can do.  After all, isn't this my job as a mom?  I am supposed to be her protector and keep her safe.  I can tell you one thing, CDKL5 brings on an entirely new meaning for the term "parenting fail", and it is not one that ends with "hahaha".  I know that all I can do is my best, and I know I am doing just that, but finding myself up against a beast of a challenge such as CDKL5, well that does not hold an ounce of water.  

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A slump resulting in A CALL TO ACTION

Growing up I was always the athletic type.  I participated in pretty much every sport that was offered in whatever location we were living.  Softball ultimately became my game of choice.  I find it comical that my least favorite sport to watch is professional baseball, but I digress.  Softball was my thing.  I mainly pitched or was the short stop.  When it came time to my position at bat, it was typically 4th.  My nickname as well as the word written on the back of my shirt was "slugger".  The sport of softball and I clicked.  It was something I had a natural ability for, but at the same time I still had to practice religiously.  There were times that I struggled with my game and found myself in a hitting slump.  

I wish I remembered exactly how I worked my way out of those times.  That would definitely prove to be valuable information to me these days as I find myself in a constant fog.  The adjective I would use to describe my disposition...  "A slump".

I feel my overall performance level is well below expectations.  This is trickling over into every aspect of my life.  I feel inadequate as a mom as I am short tempered and I do not feel like I am giving all of the kids my undivided attention.  That part alone feels nearly impossible.  My mind is constantly racing; there is no way that my attention could be anything but divided.

As far as climbing out of the rock bottom pit we have been in in regards to Sonzee's health and development...it seems that challenge will be never-ending.  When I think she is on the mend, something random comes unexpectedly and knocks her back.  I wish things would get easier for her and stay that way.

In regards to my blog posts I feel like my slump is related more to the simple fact that I just do not feel like I have many uplifting words to share.  I want so badly to have words of wisdom and a nice little fortune cookie type of message that people walk away from the screen feeling all warm and fuzzy on the inside from reading.  I just do not feel like I have that type of stamina in me these days.  I try to abide by the "fake it, til you make it" type of approach...but the amount of energy it requires to simply "fake it" is even beyond my current capabilities.

In terms of Sonya's Story and raising awareness and finding a cure for CDKL5, it feels as if we have hit a roadblock of sorts.  While this blog provides a source of much needed therapeutic comfort, my main goal is for us to help bring awareness to CDKL5 at a significantly higher level.  We need the character string of CDKL5 to be known by MORE than just the children and families whom are personally impacted.  We need to reach farther out of our inner circles and get the disorder out there.  CDKL5 is important, our children are important!

ALL the children of CDKL5 need US to help them find a cure.  This is not just about Sonzee.  This is about bringing awareness for ALL of her CDKL5 siblings.  This is about helping CDKL5 gain momentum so more money can be raised, so more research can be completed, so children do NOT have to suffer, and so children do NOT have to die.  So families of these children do NOT have to suffer.  So NO ONE has to suffer due to CDKL5.   

For those of you on twitter our handle is @SonyasStory and please fill your twitter feed with #CURECDKL5, #CDKL5, or any other hashtag with CDKL5 on it.  For those of you on Facebook share this blog post and our journey.  For those of you with any type of media connection, sports connection, music connection, any connection...PLEASE CONNECT US!!!  Please help us tell Sonya's Story and that of her CDKL5 brothers and sisters!!!!  

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Today

Today is June 17, 2015.  It is a Wednesday.  In Arizona it is somewhere in the 100s.  It is 5 days before the official start of summer and 2 days into monsoon season.  It is just another day in June.  

Today Sonya's oldest sister will go to dance camp; hopefully she will spend her day laughing, smiling, and dancing to her hearts content.  Sonya's brother will be at gymnastic camp; probably missing his sisters and hungry, but still managing to have a good time.  Sonya's other sister is most likely going to spend her morning jumping around the house with her brown pigtails and pating Sonya while saying "zoa ahva".  Sonya's dad will be working, and me...once the day gets going I will spend it driving around town in the rented Tahoe dropping kids off and picking them up from activities.

You see today is just another Wednesday in June.  Except this year, today, June 17,  will be the first of many June 17s that our family will spend the day wearing shirts with the words "CDKL5 awareness".  We will start a tradition of green and purple balloons tied to a yard sign in the front yard for the neighborhood to see.  We will spend the day thinking just a little bit more about CDKL5, (like that is possible) and we will think about all the children and families that have become part of our family due to a string of five characters.  

Today we will be a bit more outspoken about CDKL5 and we will hope someone who has never heard of it will go to their computer, type the characters in and learn a piece of information about a rare genetic mutation they didn't even know existed yesterday.  

Today all over the world events will occur to help raise money to continue research to hopefully one day find a cure for CDKL5.  Today all over the world families will be trying to bring awareness to CDKL5.  

What will you do?

CDKL5 5 Push-Up Challenge

Help us raise awareness for CDKL5. 

Use #cdkl5challenge on your videos!! 

1. Donate $5 to the International Foundation for CDKL5 Research at www.cdkl5.com
2. Do 5 push-ups
3. Share this video and tag 5 friends