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.

CDKL5 Rare

I sat at my computer last night trying to figure out what I wanted to convey today being that it is Rare Disease Day.  According to Merriam-Webster, rare is an adjective that means "seldom occurring, or found: uncommon; marked by unusual quality, merit, or appeal: distinctive; Superlative or extreme of its kind. Then the quote by Dr. Seuss popped into my mind, "why fit in when you were born to stand out" and the thoughts in my mind began to get jumbled and that feeling that tends to reside in my heart was a little more noticeable.  

In 2004 the CDKL5 gene was first identified, and it was originally known as STK9.  By 2015, the year we began this whole excursion down this funfilled path of what it means to be rare, there were approximately 600-1000 children diagnosed worldwide with a CDKL5 mutation.    At that time it was a brand new baby in terms of scientific studying.  Information regarding the prevalence and occurrence was hard to come by.  Research and another 4 years has led to more awareness and more diagnosed children.  Although rare, the occurrence is believed to be ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy.  Currently, there are two children diagnosed with CDKL5 each week.

I need to take a moment myself to swallow that statistic.  That means this week there are two more seemingly healthy babies who will begin seizing before they are officially considered developmentally behind for not presenting with a social smile.  That means there are two more sets of families who will have their entire world flipped upside down in a way they are never going to fully ever comprehend.  That means this week two more families will find themselves on an unknown journey that they never even knew was a possibility to embark on.  That means our CDKL5 family is growing, but it also means that eventually, that is another family that will one day have to face a life without their precious child.

What exactly does it mean to be rare? It means to me as a parent there is a responsibility to try and make this statistic look a little different in another 4 years.  It means that we need to continue to raise awareness and get more potential life-altering remedies so that these two children who are diagnosed each week will begin to hear the words, "your child has CDKL5, BUT this is what we can do to help".  It means that we need to spread awareness so that ALL the children currently living with CDKL5 are given the BEST QUALITY OF LIFE POSSIBLE.  It means that we need to spread awareness so those children with CDKL5 mutations whose bodies had suffered too many seizures among other difficulties did not leave this world in vain.  

So today, for all of the children diagnosed with CDKL5 and for those who will be tomorrow, show you care, and spread what you know about rare...who knows, maybe one day (soon) we will look back on this moment in 2019 "when CDKL5 was once known as rare".

1 in 46,000

One of Sonzee's CDKL5 sister's mom created the image above.  I saw it circulate in our parent support page about 4 days ago and to be honest I kept scrolling.  I am unsure what deep rooted psychological reason it might be due to, but the "easy" answer is just that it seemed almost unheard of to believe 2 children a week could possibly be diagnosed with CDKL5.  It is rare after all, that number makes it feel much, much, much more common.  I let the image go out of my mind for a bit, and then Friday afternoon I reached out to the mom and asked her more about the statistic.  She directed me to the CDKL5 UK FAQ page and then I reached out to another parent for confirmation.  1 in 46,000. 

1 in 46,000, the amount of innocent children, and by default, their families end up learning the ins and outs of living life with a CDKL5 Deficiency Disorder.  This is based on a reliable testing agency in Europe that estimates incidence.  To be honest after I learned this, it just made me angry.  Why is this number as high as it is?  De Novo mutations are the main kind of CDKL5 mutations, meaning that while genetic, neither mother nor father has the mutation themselves and so "no one is responsible", yet 1 in 46,000 times this is estimated to occur.  Do not get me wrong, 1 in 46,000 is still considered "rare", and for comparison sake, the incidence of Rett Syndrome is 1 in 10,000, but welcoming an average of two new families a week to our CDKL5 family just hurts my heart.

Today, like every June 17 of Sonzee's life I will give homage to this day.  It is bitter sweet as I am grateful we have a designated day due to the advances of science, but angry that such a day even has to exist.  This year, our day of awareness coincides with Father's Day in America, and for the first time since 2015, I have not told my kids that today is awareness day.  We spend every day during the year living, breathing, witnessing, and being aware of the effects and impact of CDKL5, so today we will honor Sam and be thankful that Sonzee has an amazing dad and tomorrow we will back to spreading awareness of CDKL5.



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More than seizures

Today marks day 4 of CDKL5 awareness month.  It is a month I have been lucky enough to honor over the 3 years of Sonzee's life.  The entire month brings similar feelings to that of her diagnosis day; a mixture of gratitude for having an answer to the "why", and pain because of everything that comes with the 5 characters that don't go away when awareness month ends.  Historically, I spend each day of this month trying to balance the positives and negatives that have come with this diagnosis, not wanting to highlight only the bad but trying to give the weight of these characters their due justice.  The truth is while the hallmark of CDKL5 is early onset, difficult to control seizures, CDKL5 is more than just seizures.

Two years ago yesterday Sonzee was finally discharged from a 28 day hospital stay.  It was a discharge we were not sure would occur, and the experience left us jolted to the core.  It was during that stay that it was clear she would most likely never tolerate feeds into her stomach again, 2 years later and those thoughts are pretty much confirmed.  She is still fighting the same battle and we still have yet to figure out how to help her.  That sadly seems to be a recurring theme, and it weighs heavily on me as a mother.  My job is to not allow her to suffer, and CDKL5 makes that nearly impossible on every level.

Sonzee is 3 years and 3.5 months old, yet our 6 month old moves circles around her, almost literally.  She cannot sit, she cannot crawl, nor can she walk.  I am able to say those words without tears now, and we focus on what makes her happy, but the facts still tug at my heart.  I wish for her that she was able to sit, that she was able to crawl so she could get to toys or places she wants, and that she was able to functionally use her hands to request hugs when she wants.  I wish for her that her voice was not locked inside her unable to communicate her basic wants and needs.

I do not need a month to remind me of everything that having a CDKL5 mutation has taken from Sonzee or our family.  I live the effects every hour of every day, and when this dreaded deficiency takes her earthly vessel from us, it will continue to wreak its havoc on those of us who have fallen in love with her over the years.  What this month simply does is allow me to reflect on the significance this string of characters has on Sonzee and every child impacted and share the weight so that I do not have to carry it alone.

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Becoming aware

I prefer to do positive style posts because that is how it's best for me to deal with all things CDKL5.  The past week and a half I have spent each morning deciding which fact I would be sharing about life with CDKL5.  My goal is always trying to balance shedding light on some of our hardships while also putting a semi positive spin.  However, almost two weeks into this CDKL5 awareness month and it's safe to say it makes me more aware of just how tough life with CDKL5 is.

Over the weekend I wanted to share a fun fact or two about CDKL5.  I wanted to capture little bear completing some challenging task that requires her a bit more effort, or her sitting and being happy/content like a lot of other children with CDKL5 mutations.  I just wanted to share a picture of her adorable little smile, or maybe even capture a laugh...but none of those things happened.  So I skipped posting.  It's one thing to go on with our days experiencing each one of them as they come, but it's another to realize that things aren't so great.  I guess I don't give it much thought as a whole, but wanting to write a post makes me have to "accept" what exactly is going on.  

Sadly a typical day for Sonzee begins around 6:30am with her crying.  It takes Sam and I multiple guesses and attempts to calm her before she calms for a bit either in her bouncer, chair, or with some cuddles.  The calmness only last temporarily and then she's back to her cries and screams.  The rest of the day is a gamble of how much she will cry or be miserable.  The majority of days she spends clearly uncomfortable and so we spend the majority of our time trying to figure out what she is telling us so we can fix it.  We usually fail miserably and eventually we give up.  We change her position all day, give her cuddles, the kids attempt to play with her and entertain her- it's usually a major fail.  Eventually it's bedtime and thankfully she sleeps at night or occupies herself quietly in her crib.  Then we get to experience our own real life Groundhog Day on repeat...every day.

It's been challenging to adequately represent CDKL5 for Sonzee and be respectful of what I would think she would want me sharing as far as pictures and her day goes.  I guess this is the whole part of spreading awareness.  Letting others know they aren't alone if their child who has a CDKL5 mutation isn't always smiling and happy and reminding me that it's okay to be angry about the fact that this is the life of our two year old.

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Happy Diagnosis Day?

Happy Diagnosis Day?  I am typically a fan of celebrating every inch stone, milestone, Sonzee-stone, what have you, so it only seems fitting to somehow adorn our house with balloons and give thanks to CDKL5 being placed into our lives two years ago today.  Since I am not quite ready for that after only two years, I suppose the all-out celebration will have to be placed on a brief hold and reconsidered next year (or the year after?).  Regardless, today marks an important day in our family's life, and so today I am going to explain to every person who reads this blog post and for those of you who share the information written on this blog that CDKL5 does NOT mean your child has a worthless, unmeaningful, depressing, insert any negative connotation type of life.

CDKL5 has brought many challenges for Sonzee and our family.  The diagnosis made our worst fears become a reality in a matter of seconds.  However, two years in and our daughter is still alive and has not given up, so we will not either.  There are many people who pity the life that Sonzee lives.  There are those who decide that her quality of life is not "quality".  There are those who think she would be or that we would be better off without her here.  Yes, having a CDKL5 mutation is not ideal, no, I would never have chosen for my child to have a CDKL5 mutation, but this is how she was given to us and we love her the way she is.  She may be a little girl trapped inside her body, but she is smart and she is aware and she knows what is going on (it only takes one minute of actually being present with her to know all of this).

I pity people who think that having a disability defines a person.  I actually despise people who think that because a child is nonverbal that means they have no idea what is going on.  I feel sorry for people who do not take the time to get to know the child and learn to communicate with them in a different manner.  Every person has a story to tell and it may not be told verbally, and if you do not give a person the chance to tell it in his/her own way, that is not reflective of their cognitive capabilities.  If you meet a child or a person with CDKL5 I challenge you to spend time really getting to know him/her, not just petting their heads, or looking through their eyes.  I promise you will see the light in their eyes and their individual personality shine through, along with their obvious likes and dislikes made abundantly clear.

Having a CDKL5 diagnosis for Sonzee did not give us the answers we wanted, it did not give us closure and it did not give us any specific path to take.  It continues to give us speedbumps, hurdles, and roadblocks that we must creatively maneuver around.  It brings many nights of tears and a lifetime of fears as a parent.  CDKL5 means a life of challenges for Sonzee and a life of defending her capabilities to others who are too blind and closeminded to see them.  CDKL5 has given me various new perspectives, many great friendships, and an extended family that I will forever be grateful for. 

After only two years, the diagnosis is still too raw for me to embrace with open arms, but the strength, perseverance, and bearlike qualities it has given to Sonzee and honestly every other person in our immediate family is helping me to accept it a little more every day.  

So... I guess happy CDKL5 diagnosis day?

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Feeding Tube Awareness Week 2017: Comfort with the unlikely

Over the past two years I have found comfort in the most unlikely places, in a world I never knew existed, with items I did not know how to say or spell just two years ago.  One of the most challenging things we had to do for Sonzee was get her a feeding tube.  To do so we had to overcome our doubts, our judgements, our misconceptions, our fears, and all the negative connotations that come with a piece of medical equipment used to feed a child.  I personally struggled with what people would say, how she would look, the fear of her never eating by mouth again, and the fact that even though I knew deep down it was necessary, it was not so obvious to others, creating a huge cause of disagreement between Sam and me.  

It is almost a year from the day we nearly lost Sonzee while in the pre-operation room waiting for her gtube to be placed, immediately we doubted our decision leading me to want to forget the day that led to this post.  I wish the memories of that day were not so vivid in my mind.  I will not ever be certain that the chain of events that were set into motion from that day are not responsible for the battles she now faces with her stomach.  However, I do not know if we will ever be able to hold anything other than "CDKL5" responsible for the fact that she no longer can process food in her stomach.  The disaster of the original failed gtube surgery and later complications of the PEG tube placement did nothing to calm any of the negativity I felt towards feeding tubes, after all, Sonzee's condition only worsened after its placement.  Then in May as her life hung in the balances yet again, while being placed on temporary TPN, we had no choice but to allow the doctors to try the intestinal tube that goes through her nose into her jejunum.  

I was vehemently against any feeding tube that went into the nose and would be on Sonzee's face.  My background in speech therapy led me to know that there was a higher likelihood of her losing interest in eating by mouth, and the mom in me still wanting life to appear "typical" to others, knew that a tube on a child's face would be no different than walking around with a flashing red blinking sign.  It broke my heart to know people would look at her and at once feel pity, stare, or feel uncomfortable.  Ironically 8.5 months later I cannot imagine her being alive without this tube and the comfort and security I feel because of the tube on her face for others to see is the opposite of my earlier fears.  

As I take her out of the car, when I park in a handicapped parking space, I proudly place her in her stroller with her stroller=handicap blue placard that is hanging.  It is obvious we belong in the spot and that there is something not typical about her.  My fear of stares has turned into comfort and excitement that I will have the opportunity to spread awareness of CDKL5 and find comradery among others who have traveled a feeding tube journey.  For me, the tube that goes from her nose into her intestine has become a safety net, one that I am actually afraid of ever taking away.  For her, she does not know much before the tube, and she does not express any discomfort from it.  Her desire to eat is no less because of it, and she would eat all day if her stomach allowed her to.  While I wish her body did not need this tube for survival, there will always be gratitude and appreciation towards this piece of a rubber tubing that continuously saves our Sonzee bear daily.

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Off the sidelines

I follow a lot of stories of children who have terminal illnesses, developmental disabilities, chromosomal abnormalities, rare genetic disorders, etc.  I try not to become too involved because living a similar life as some of the families can make it challenging for me to separate our life from theirs.  It can be suffocating to see a child dying from a similar disorder as Sonze, and it can be equally challenging to see a child who has been affected far less than her.  So for my sanity, I try to at a minimum show support and pop in because I do genuinely care about each child, but I don't get too involved.

A common theme among all of us special needs parents is the overall feeling of helplessness.  There is nothing I have experienced in my lifetime as unbearable as watching your child suffer but not being able to do anything about it.  You literally have to sit by and watch.  I remember when my first child began to walk and she ran into walls, when she went to the park and I was afraid she would fall.  The feeling is the same,  you know you have to let them learn on their own, but your first instinct is just in and "save" them.  It's similar but much worse when you are watching your child suffer from pain, when you watch your child have seizures, when you watch them deteriorate before your eyes, and I don't want to imagine, but can only assume as you watch your child slowly slip away, and not be able to do anything to stop any of the above.

One of my main purposes of Sonya's Story is to raise awareness.  I hope that all of you understand the reasons behind when I or another parent of a "rare" or sick child asks for donations, asks for you to buy/wear apparel, or bombards you to with pictures or stories explaining their child's condition and overall progress.  For me, it is a way to feel like I am doing my part to not just stand by and watch.  I hope you can put yourselves in my/our position and TRULY KNOW that YOU would be doing the exact same thing.  During this holiday season you might begin to see more campaigns to help support rare disorders or to help a child in need.  You might be asked to support more causes financially or to share posts and information.  This is one way of how we as parents cope with the helplessness.  It is the way we hope to bring awareness and maybe it will bring us a cure.  It is the way we feel like we might actually be doing more than just sitting on the sidelines.  

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Comparisons

It happens all the time after I tell someone about Sonzee.  The innocent follow up question is always "what do the doctors say for the long term?”  This usually results in me telling them while the spectrum of her disorder varies, most children with her disorder do not walk, talk, or feed themselves on their own.  I always state we will do whatever we can for her, we are not saying never, but her disorder is limiting, in all ways.  This is then followed by the seemingly innocent comparison.  The one where the person is trying to maybe instill some hope into my life by saying that their child, a friend’s child, or a child of a second cousin twice removed has epilepsy and they are graduating from Yale or some other Ivy League college.  (To be honest, Ivy League schools are not really on my wish list for any of my children, but I digress).

While the statement seems "benign", what I would love people to know is that the comparison to your child, your friend's child, or your cousin's child twice removed, is actually unfair.  CDKL5 and many genetic disorders are limiting in the fact that they are genetic.  When a gene in a body is incomplete, missing, or has an error it has a catastrophic impact on all areas of development.  There is no medication that can fix it; there is no "system reboot" that can be completed.  There is absolutely nothing that can be done to actually make the bodywork normally.  Symptoms can be treated to an extent, maybe Sonya's seizures will one day be completely under control, but even if that happens, she will always have an abnormal mutation on her CDKL5 gene.  This means that the comparison might as well be apples to oranges.

We can spend thousands of dollars on therapies, we can place her in every therapy the world has to offer, and they will help her, but they will not ever make her act like or be a typical child.  When I am told that "doctors can be wrong", yes they can be, but not with CDKL5.  I wish people did not feel the need to create small talk by saying "you never know what might happen".  You are absolutely correct, I do not, however unless it involves a vial of CDKL5 capable of replacing the frameshift mutation on Sonzee's, than I am 99% certain that attending (an Ivy League) college will not be in her cards (but she will be happy to accept an honorary degree from one).

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Pity

We are all guilty of thinking it.  We are all guilty of feeling it.  When we find out someone's child was diagnosed with cancer, or when someone has a family member who has died, its essence surrounds us.  When we learn a child is diagnosed with an incurable disease, we all immediately think "How horrible", "I can't even imagine", "So awful", the list goes on and on, and so does the overwhelming sense of pity.

Pity: "the feeling of sorrow and compassion caused by the suffering and misfortunes of others"

I have a whole new relationship with these words.  It frustrates me in a way that I have never felt, but I am sure I am not alone.  I feel upset with myself for letting such a small word take me over and make a huge impact.  A negative impact at that. I feel so badly for all of those times I myself gave way to that feeling when I met someone who had a child or family member who was experiencing a less than perfect situation.  Now I am the person and family member on the receiving end.  I hate to impose my emotions on others, but many of us (if not all?) who find ourselves in a position listed above, or any other position that others might feel warrants this emotion....do not want or need your pity.

I can spot the look from across the room when a persons glance lingers a second longer.  I can feel it in the air when someone walks over to the stroller and attempts to interact with my daughter who does not even acknowledge this persons presence.  I can read it on the faces of the stranger who overhears my conversations with others as the conversation shifts to talks of seizures and development.  It is all around me and it is impossible to escape.

I understand the situation can become uncomfortable fairly quickly when someone realizes that Sonzee has epilepsy, a developmental delay, and is unable to eat by mouth.  Yes, it absolutely sucks that this was all caused by a random de novo, no one person is responsible type of genetic mutation.  I know the typical response is the stoned face expression followed by various questions about whether the seizures can be cured or if she will grow up to have the same cognitive abilities as typical children.  I can handle the conversational dialogue and in fact I encourage questions and love to talk about everything CDKL5.  But please hold the pity.

Awareness.  That is what I hope to impart on others.  I want others to learn that people are different for various reasons, and a good majority of the time it occurs due to random circumstances.  I want others to not feel embarrassed to ask why Sonzee has a sticker holding a tube on her face.  I want someone to question why I am unfolding a stroller from the trunk of my car that is parked in a handicapped parking space.  I want people to ask why I have a light up blinking toy in the water at her swim class.  I want to provide education.  I do not want people to assume anything.

What I really do not ever want is for others to feel sorry for me, for Sonzee, or for our family.  There is no reason to feel this way.  Everyone has challenges and misfortunes in their lives.  No one is exempt from tragedy.  Yes, the circumstances are unfortunate, and I wish my daughter was a typical almost 20 month old toddler capable of doing typical 20 month old toddler activities, but that is not the case.  Please do not ever feel sorry for us.  Please continue to ask questions, tell Sonzee's story, offer support and a shoulder to cry on when the days get overbearing, and do your best to be there to celebrate with us when the days are amazing.

Dear seizures

Dear seizures, 

I have been penning this letter for some time, waiting for the moment that I had enough courage to express accurately my dislike, anger, and overall hatred for you.  I hope this note reaches you when you least expect it, when you are relaxing from your long day of atrocious hard work, after you are finally settling in to rest and you are completely unaware of what is about to come at you.  I hope you are shaken to the core and completely sucker punched; you know, similar to what you do daily to my 17-month-old daughter and ALL of the children that suffer from the sudden abnormal electrical activity you love to share.

You are simply unrelenting as we, the defenders, play a delicate game of "walk the tight rope", balancing between medicating enough to maybe put you at bay and keeping our daughter's essence alive.  You have taken so much already from our daughter that your continued presence simply sickens me.  Each second of every episode that you infiltrate my daughter's beautiful body is another second I spend loathing your mere existence.  Today, alone, that was approximately 900 seconds.  That is 15 minutes of my life I spent feeling utterly helpless, fighting back tears with my heart torn into pieces watching as you took over the body of a helpless child.  It is so beyond frustrating and challenging to find the accurate words to express to you the complete and utter disdain I have for you.  I wish you were tangible so I could find you and give you the reciprocity you so deserve.  

I wish there was a magic potion I could find that would make you vanish from this world so no other parent, caregiver, sibling, or person in general has to witness what I do on a daily basis.  Most importantly, I wish there was a remedy mainly so no person has to succumb to the negative power you possess.  Too many parents have watched you take pieces of their children away from them far too often.  Too many parents have watched you literally suck the life out of their child.  Too many parents have you to thank for the disabilities their children experience and the daily struggles they endure.  Too much heartache and too many tears have been wasted because of you!

What I want you to know is that despite all the negativity you represent, and all the hurdles you place in my way my mission will remain constant and I WILL NEVER QUIT.

I will never give up the fight for a cure to stop your electrical misfiring.  You should spend each moment in constant fear that TODAY will be your LAST seizure.  You should live in a constant state of panic and worry that you will be obsolete from existence and that your damage will NEVER continue.  You should never get to the point that you feel you are a match to every drug manufactured, because my daughter and every other child and person who deals with you on a daily basis is far more resilient.  Most importantly, what you should remember is that every person you are attacking has a momma bear on the defense, and so my friend, you are the one whose days are numbered.

Good luck, 

From a fierce unrelenting momma bear warrior whose life mission is to eradicate you

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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 

Awareness

Before July 26, 2011, Sam and I had no real life experience with a NICU.  Just 18 months earlier with our first child, we delivered in a hospital that had a level 3 NICU for the "just in case" scenario.   On that Tuesday night with uncertainty, we were quickly thrown into a new experience.  We had known throughout my pregnancy that our son had a congenital heart defect, but how severe, no one knew.  Luckily for us, his stay was brief, and he was discharged back to rooming in with me in couplet care within 12 hours.  His diagnosis, we would later learn was a bicuspid aortic valve with mild aortic stenosis.

My knowledge of the heart has definitely grown, although I still find it a bit overwhelming with all the pieces of information we receive.  Before July 26, 2011 I was unaware that a bicuspid aortic valve is the most common congenital condition of the aortic valve.  

Fast forward to this year.  On March 11, 2015, I had no idea what a seizure looked like in a one month old.  It took just 3 more days to gain that knowledge.  On Thursday, April 16, 2015, at 2pm I was blissfully unaware of CDKL5 and the cause of Sonya's seizures, and then a mere 30 minutes later, I became aware.

We see ribbons of awareness all the time, all around us.  Some of the more "popular" ones we know without hesitation.  We look at those ribbons and give pause to our own experience with the disease or person it is representing.  Then there are others we look at and we are not quite sure what those stand for or who they stand for.  I probably wouldn't be wrong if I said that for those less than popular ones, the majority of us don't run to the Internet to do a quick google search to learn more.  We may not ever learn that the infertility awareness ribbon is pink and blue, that bright yellow is for spina bfida, or that purple is for epilepsy. 

It typically takes a diagnosis and deep rooted desire for a cure to want to spread information.  It takes being at the very bottom of an unfortunate situation to reach out and try to garner interest.  It is on the shoulders of those impacted at the first degree to teach as many people who are willing to listen so they themselves can share the information.  It is our job to help raise awareness so that our ribbon color is always known.

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This month is CDKL5 awareness month. Our colors are purple for epilepsy and bright green for CDKL5 itself.  Hope-love-cure is our motto.  I ask you to join me in helping spread awareness.