Different hope

I have had a love/hate relationship with the term hope since February 11, 2015.  There was always an internal tug between protecting myself and relinquishing the fear of actually allowing myself to be crushed by the fallout after hope failed.  After all, living a life where death is waiting on the doorstep is nearly impossible without giving in to some sort of hope. Hope that seizures will be few and far between. Hope that illnesses will come and go quickly and not leave behind any secondary long-term symptoms.  Hope of limited hospitalizations or at least quick ones and enough recovery time between the next one.  Hope that the decisions that are being made are the best ones not only for the moment but for whatever the foreseeable future looks like.  Hope that going to sleep will result in waking up.  Hope that the days are filled with more calmness than turmoil.  Hope for the best-case scenario. And dare I say, at some points even possibly hope for a cure.

There came a time eventually when hope became dismal.  When the real hope of life ever becoming normal, different, or potentially something other than what it was really meant to be was no longer in view.  When I realized that what I hope for can't be anything long-term because days became obviously numbered and all there was, was a new perspective on hope.  Hope has always been an abstract concept, but it now turned into something ungraspable because I won't ever learn if my hope is being achieved.  I can't ever receive confirmation because instead of hoping for my child to be "cured", or for her life to be significantly easier, or for her to be seizure-free, or for her to speak her first word, or for her to do any of the many things that her body was deprived of due to a lack of a functioning CDKL5 gene, I am now simply hoping she is resting in peace.  

There is no more hope for a cure when you start to live life after CDKL5.  There is sadness for all the CDKL5 siblings left behind as they continue to suffer.  There is extreme empathy for those families receiving a new diagnosis, but there is less of a care or emphasis for any sort of cure for something that doesn't matter because it cannot and will not bring my child back.  Maybe that is selfish.  Maybe it is just a moment in my grief journey.  Maybe it is just the cold hard truth.  I am no longer able to hope and dream of any positive potential for Sonzee.  There are no more hopes for walking together and hearing about her day or what her dreams are.  All I am left to do is hope to dream of my dead child, continue hoping she is safe, and hope that after I die I really will be reunited with her.    

Have it all

These last few weeks have been filled with a lot of steps forward mixed with a couple of punches to the gut.  It is so hard to make it through the punches when they come during a period of positive times that was prayed for but unexpected.  Expectations are just not something I allow myself to have any more.  No matter how many times I have told myself they are as low as low can go, an untamed piece of me gets loose and dreams up something lofty and completely unattainable and then I am left falling much harder, faster, and lower than I should be when the expectation "falls short".  So I do my best to stay away from making any sort of positive predictions. However, when something unexpectedly positive and amazing occurs and I start to believe it really is becoming our reality and then a negative wave is thrown our way, well it just about feels like I have been thrown off a boat tied to an anchor.

If you follow Sonya's Story on facebook then you probably saw that Sonzee was afforded the opportunity to meet Jason Mraz during her most recent hospitalization.  It was one of those surreal moments that you really cannot even process as it is happening.  An experience like that is not just uplifting to the children who are really the reason us parents are able to be there.  It was really hard to sit through his explanations of why he wrote some of the songs as well as listening to him singing in a room of children, who for those 30 minutes had a distraction from whatever they were enduring, without tears welling up in my eyes.  Every song will take me back to that moment and no matter where Sonya's story takes us, Jason Mraz is going to be in the back of my mind singing me through it.  

Despite the ups and downs that Sonzee faced throughout December, we saw her experience a type of happiness we have not seen from her in a long time, if really ever.  For two straight weeks, she was majority smiles and smirks.  She was visibly comfortable and she was enjoying her days.  In a more typical Sonzee twist, we saw that happiness stripped away within a moment and it has now been 10 days and it has not fully returned. While we do not know when or if she will get to experience those two weeks of December again, we wish that she may only "know the meaning of the word happiness" and that she will be able to have it all.

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If only

It was "one of those days" yesterday.  Sonzee's seizures were nonstop, she cried when she wasn't having them, she slept after she had them, she was in visible pain when she was awake, and she was having a very difficult GI day.  All in all, by 5pm I was trying (unsuccessfully) not to cry by my desk and by 6:30pm I was officially over the day.  I managed to get myself under some sort of calm by adding makeup into my shopping cart and posting an epilepsy awareness post; at least the latter makes me feel like I am doing something to help.

It does not feel like it has been that long since I have been in this position.  The one where everything between the last melt down and the one on the horizon becomes too much for me to keep bottled up and eventually I turn into a New Years champagne bottle being opened.  I know this is all just part of the repetitive cycle that comes with the situation, but I hate when it gets to this point.  Within the next 24 hours I will no longer be able to hold in the tears; it is ok, it is time for them to come anyway.  By Thanksgiving I will have be able to smack a smile on my face and almost feel the same behind the scenes, and by next Sunday I will have pulled myself back together to face the next unknown period of time.

If only this was not the reality.  If only things could be easier for her and I did not have to watch her suffer so often.  If only there was a magic potion that could be created to completely fix the damage that has been created and will continue to be by her mutated CDKL5 gene.  If only I could close my eyes, go to sleep, and wake up to a Sonzee who was born with a complete CDKL5 gene.  If only prayers such as the ones I have relied on for the past 3 years 9 months and 8 days could actually come true.  If only. 

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One minute 45 seconds

Lately I have been really struggling with my beliefs and the concept of hope in general.  I do my very best to try and be optimistic but the "real me" is more of a realist, which tends to come across as "Debbie downer".  I can own that about myself, and honestly, I do not feel like I am in a place to jump ship on the "perceived negativity" at this current juncture, because it is safer for me to be closer to the bottom.  When I find myself in one of these lull periods, it is as if I am more receptive to the shimmer of hope that might actually exist.  

In the middle of the night between Monday and Tuesday morning I had what will always remain one of the top 5 moments between Sonzee and myself.  As I went to start her back on her 20 hours of continuous intestinal feeds I turned my phone flashlight on and caught a smirking faced Sonzee looking over at me.  My immediate reaction was a huge smile and of course to begin recording this magic moment.  I honestly do not remember the last time I have felt her portray such giddiness and happiness outwardly, not to mention an actual "dialogue", my heart was literally exploding.  It was near one minute and 45 seconds where my 3-year-old acted like a 3-year-old.  One minute and 45 seconds so genuinely appreciated and not taken for granted that even typing this brings tears to my eyes.

Many minutes, hours, and days spent with Sonzee are surrounded by question marks.  Is she happy?  What is she saying?  Does she understand?  How can we help her?  Is she in pain?  Why are the simple things in life so challenging for her?  Those are just preliminary; my list is far more lengthy and complex.  I often feel like I am drowning with hefty decision making and uncertain repercussions.  Then randomly out of nowhere I am truly given a gift from G-d, as if he knows this is exactly what I am needing.  This one minute and 45 seconds was chicken soup for my soul and will certainly keep me company as we continue through this next phase of uncertainty along this special needs journey.  

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"A cure"

This slide has been popping up all over my news feed from the CDKL5 conference this past weekend.  I do not know why specifically, but every time I see it pop up it sends my inner core into fight or flight and instant anxiety ensues.  I know that if I had been present and had all the information regarding the context of this slide I would most likely feel less threatened by such words, but as it stands, I just feel "vulnerable" to the potential of hope it should elicit.

After the 6th time I saw this image I turned to Sam and asked him why I was so angry over it.  It was and does give me such a strong negative feeling in the pit of my stomach, and I wish I could read it with the excitement of those who posted it.  I am unsure of the exact reasoning, but while trying to focus on a calming game of Sudoku, I couldn't squelch the numerous questions that came into my mind.  Firstly, is this really a cure for ALL of our children who have a CDKL5 mutation or will it only work for some?  Will Sonzee be alive in 2025?  Is it even possible to really cure a genetic mutation?  What would a cure actually look like?  Who presented this slide?  Does the presenter have a child with a CDKL5 mutation and if not, do they understand the weight that these words carry? and What really is the meaning behind the words on this slide?

It has, is, and always will be a challenge for me to truly embrace the words hope.  I wish I could say the word and actually believe in it.  I wish I could allow myself to be open to the idea of what hope represents, and allow myself to be vulnerable to every component.  I wish I was not so afraid, but that is really what it comes down to.  A bottom of the barrel, crippling, scary, dark, deeply rooted seed of fear that throws up this clear Plexiglas wall so that I can see what is on the other side, but am unable to be part of it.  I want to believe, I want to have hope, but I do not want to be hurt, I do not want to be crushed, and I do not want to be disappointed.  After all, this isn't about hoping for the sun to shine on a rainy day, this is about my 3 year old not suffering, potentially becoming a functioning member of society, and me not having to come to terms with the fact that I will most likely be burying her at some point in my life.

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"Hope"

There was a post over the weekend in our CDKL5 support group of a mom of a 10 month old who was recently diagnosed.  Change the date by 3 years and 7 days, and her daughter's age to 8 weeks and there we were.  She mentioned her daughter's current status, and she sounded pretty similar to Sonzee at that age.  I skimmed the replies and had zero intention of replying, after all, she was caught off guard by the diagnosis, in shock, and was looking for some hope.  I know what she is looking for, I know how she is feeling, I know what she wants to hear, and I know I am not the support she currently needs.  I am having a difficult time myself defining what hope even looks like at this point.

I remember 3 years ago it was merely a voice in the back of my mind that was saying she would not outgrow the seizures she was experiencing.  I remember 3 years ago how often Sam said exactly the opposite, he not only hoped, but really believed that when she was a little older the seizures would stop and she would be just like her siblings.  Her stint in the NICU and subsequent 8 day PCH hospitalization would become a distant nightmare and not part of a recurring adventure.  I wonder if deep down I clung to any minuscule amount of hope that I wouldn't allow myself to consider out of the devastating fear of the reality crushing me. 

It was 3 years and 6 days ago we received that phone call that redirected our focus on the path we had been journeying.  The phone call that told us we had an "answer".  I remember feeling at peace that we had an answer, eager to not want to wait the night to hear what it was, but "at least we knew what we would be dealing with".  Later on that day, Sam told me nothing we were going to be told was going to be good.  It was an odd switch of roles.  I asked him how he knew, and he told me he looked up the infant epilepsy panel and only two diagnoses were "good" and they were not what Sonya had.  I think it was one of the few times I remained more calm than him, and said, "well, we will know what it is tomorrow".

From the moment we read "CDKL5" on that genetics report, we clung to the hope that Sonya would not fall victim to all of its devastating effects.  Day after day, week after week, and year after year, I have watched her with my own eyes become its prey.  There have been some successes on this journey, and invaluable experiences, but my faith and trust in hope has been shaken to the core.  I hope she isn't suffering.  I hope that she knows she is loved.  I hope she feels we are making what we feel are the best decisions for her.  Gone are the days where I place the measurements of my hope on her accomplishment of typical milestones.  I would still love for her to sit just one time unsupported in her life, to take her first steps, to say one word, to purposefully communicate with her family, and to interact with her siblings, but if someone asked me to give them hope for their child diagnosed with CDKL5, I would say there is certainly hope, but, the reality might not follow in those footsteps.


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Simplicity

On Sunday we take our older children (with Sonzee in tow) to their weekly swim classes.  During their session in the baby pool to the right of the "big kid pool" is the class for babies 2 months to 6 months old.  Little babies that are getting acquainted with the water while bonding with their mom or dad, or both.  Sonzee participated in this class when she was that age.  I have distinct memories of her sleeping the entire half an hour due to having a seizure before entering the pool.  The other parents would all smile and comment about how cute it was that she was able to sleep the entire time, they never knew why.  I enjoyed that class because it was a time when Sonzee was "the same".  It was a time that I could pretend that she was not developmentally behind.  It was a time that her seizures, CDKL5, and our lives were essentially a secret to outsiders.

Today as I was helping Sonzee's twin girl get dressed, I was standing right next to the baby pool.  I could not help but stare at each baby and his/her individual experience.  There were 5 boys and 1 girl in the class.  Mostly dads were present and they all appeared to be on the younger side of the age range.  The mom or dad was taking a cup with holes at the bottom and letting the water fall over each baby's head.  I took note of all the reactions present; surprise, eyes closed with a squirm, and some pure delight.  I could not help but smile.  It has taken me 8 months to feel ready to blog openly that Sonzee is going to become a big sister in the next 6-8 weeks.  I have had so many experiences along this journey that I have wanted to put to paper, but it was not until today when that first baby in the pool gave such a huge smile as his reaction to the water over his head that I knew I could do it.

Chalk it up to fear of opinions, fear of something going wrong, fear of comments, fear in general, or maybe it is just the uncertainty of how our family dynamic is about to change adding another child into the mix.  Whatever the reason, I could not bring myself to "admit" that our world, Sonzee's world is going to change and deep down I know it will be for the best but on the surface, there is an immense amount of fear of the unknown.  What I have missed most about having an atypical child is the simplicity that a typical baby brings.  Yes, there are sleepless nights, there is the typical parent worry, there is the typical unknown, there are the typical challenges a new baby brings to a family, yet after having a Sonzee there is an appreciation for the simplicity that I am praying to occur with this baby.  Fear is deeply etched into this hope of everything working out the way I am so anticipating.  Sometimes the fear is so suffocating it is paralyzing, not that this baby will have CDKL5 (yes, we checked the best we could for those of you whom I know are curious) but of every other rare situation that could possibly occur.  Once you enter the world of rare you realize how not so rare it is.  However, in the recesses of my mind and heart is just pure faith that this baby is exactly what our family needs to pull us all together and keep us grounded in a manner of simplicity I am ready to appreciate in a completely new manner, all thanks to Sonzee.  

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Spectrum

It has been four days since our CDKL5 family lost another precious little soul.  A sweet 2 year 10-month-old little boy who was just 4 months older than Sonzee.  The pain is a mixture of heartbreak for his family tinged with fear for my own.  Within those four days another CDKL5 2-year-old learned how to take her first independent steps.  My heart filled with joy for all she has accomplished and immense amount of hope for her journey, but simultaneously breaks for what Sonzee might never do.  My heart and mind both torn at the fact that I should be less selfish about my feelings toward other CDKL5 children’s' advancements and just be grateful it's not my turn to be planning a funeral. 

This incurable disorder is just devastating on every imaginable level possible.  The spectrum is so wide and confusing.  We all want to grasp onto hope with the term representing various parts.  We hope our children do not constantly seize, we hope our children gain milestones, we hope our children are happy, we hope our children do not suffer, we hope our children do not catch a common cold that sends them into the hospital and has them clinging onto their lives, and most importantly we hope and pray our time to bury our child does not come today.

I spend every moment trying to keep Sonzee's life expectancy in perspective.  I try not to focus on the "what if" and "when".  I do not let those aspects consume my life, but the thoughts are never distant from my mind.  I know plenty will say "I shouldn't think that way", even other parents of children with CDKL5, but I will not convince myself otherwise when I know how unforgiving these toddler years can be, when I have witnessed Sonzee teeter on the delicate rope between life and death, and when I watch her seizures increase in both length and intensity right before my eyes.  It works the same with her Sonzee-stone achievements, I try not to focus on the "what if" and "When" but just let her do what her body is capable of, trying to truly believe when I say that I am content with where she is at.  

Daily we have new CDKL5 family members added to our group.  Having your child affected by a disorder with such a spectrum is cruel and unfair.  A parent posts a picture a picture of their 14-month-old standing and some say it "gives them hope", while I do my best to not compare an apple to an orange.  No one wants to have their child "more severely impacted", but someone must fill those shoes.  It is just the luck of the draw when it comes to CDKL5 and the role it plays and while we could not have won a bigger jackpot having Sonzee as part of our family, we could not have fathomed how difficult and painful her journey was going to be. 

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Disappointment...again

For the past two summers I have created a list of "attempted goals" in my mind that I wish for Sonzee to achieve.  I always tell myself to be realistic, but to be honest, this is the one time of the year I actually feel extremely optimistic that during these four weeks there is no reason why she cannot progress leaps and bounds when there is nothing else to do but work with her.  Then the summer begins and the hours of each day pass by, the days turn into weeks, and I am left realizing that my fantasy of Sonzee gaining substantial ground is just that, a fantasy.

The scenery has changed, the environment is different, but the effect of CDKL5 is and always will be the same.  The seizures perform their daily havoc, actually, they are pretty much the only skill that she seems to make advances with.  Just 5 weeks ago she was having small little questionable moments, and now twice a day on average she has undeniable episodes.  I do not know when I will truly realize that we are not ever going to beat the seizures.  There is no magic potion to wave them away, and deep down I really do know this.

Her jumper is hanging in the doorway here in our townhouse and her stander sits by the wall.  Both have been used twice.  The Upsee has spent the entire time hanging in a bag on the laundry room door, my desire for us to walk together for 5 minutes a day has yet to be met.  Her bike sits by the fireplace next to a basket of toys she has zero desire to play with despite the various attempts her siblings and I make to get her interested.  Essentially, nothing has changed except my feelings of defeat are far more pronounced. 

It is the moments like these that I realize that even though I thought I had lost my hope with her, it was there, hidden away in a small space in my heart and mind, hoping to prove the majority of my heart and mind wrong.  In the end, all it does is leave a pain in my heart, a fog in my mind and it solidifies why it is I really dislike everything that surrounds the word "hope". 

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Keeping the faith....

Lately I have been really struggling with the whole concept of having faith.  It is hard for me to keep hope and be optimistic when I feel surrounded by not only Sonzee, but other little children trying to battle incurable disorders and diseases.  I realize it is during these types of times that I should feel the magnetic pull to G-d to place my fears, frustrations, and questions on him...but for some reason, I just cannot.  I am unsure if it is because I secretly believe I have some sort of control of how anything in my life is supposed to go and "having faith" admits that I am relying on something other than myself, or am I afraid that having faith puts me in a vulnerable position to be extremely disappointed with the outcome?  

The biggest challenge with my ability to keep faith is that I feel like for the past two years I have been relying on my faith to get me through and I continuously feel "let down".  Maybe that is not necessarily fair considering how many times in the past two years Sonzee has scarcely made it out of various situations; but truthfully, it just feels like it prolongs the war and has not really gotten us completely out of the trenches.  I do not even believe being told we are "in the all clear" is at all possible with a diagnosis like CDKL5, but it just continuously feels like we are being lifted up to crash back down.  Am I feeling this solely because my faith is wavering?  

When we have been faced with situations I try to look, focus, and believe in what the best-case scenario might turn out to be...and the majority (if not every time) that is never how our reality turns out.  It becomes an arduous task to continuously set myself up for the potential disappointment, which to be honest in our case is typically not potential but actually, more likely.  If there is a "rare" complication/side effect, you can bet money that it has Sonzee's name on it; complications that are even rare to other children who have CDKL5 mutations.  27 months of watching my baby girl suffer has drained a lot of my faith and I am desperately trying to not lose it all, but every day it is becoming increasingly difficult. 

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This, too, shall pass

It is 3:23am and little bear finished her seizure about 5 minutes ago.  She is back up to the 4ml dose of Zonisamide we attempted to give her last week while in the hospital.  We are trying to give this drug a chance, get her to a therapeutic level and then judge, but my gut says to jump ship.  I know part of that feeling is out of fear and the complete loss of control we have found ourselves in.  The other part of me believes whether it is now or a month from now, Zonisamide is not going to be her saving grace.

So here we are, here she is in this situation, and here I am back to my middle of the night posts and waking up to alarms and seizures.  I am angry and sad.  This is NOT what I want for my two-year-old, this is NO way to live, this HAS to stop.  But how?  Where is the magic?  Where is the cure?

I am doing my best to not play the "what if" game, to not analyze our decisions with a microscope.  I am telling myself that this would have been the outcome regardless of stopping Sabril, that this was all in the plan because we are in the dreaded toddler years of CDKL5.  That we are not responsible for her current situation.  I do not know if this is 100% true, but I also do not know that it is not.  I know I should try and be open minded.  As her doctor reminded me last week, we are running out of options, so I really want (need) this medication to work.

I am so beyond broken for little bear.  This is absolutely horrific to experience as a parent.  I am hopeful that we will eventually get her seizures under some sort of control, until then, the message I received in my bath bomb before bed is going to be what I make my brain focus on every time I close my eyes.

Will it go away?

We spent two days this week at children's hospital of Colorado because they have a center of excellence for Rett Syndrome, CDKL5, and FOXG1.  This was our second time taking Sonzee and I am glad we went.  We learned some new facts that we had not known prior to this visit, for example, Sonzee has a 5% chance of being seizure free in her life (but realistically it's less than 1%), and if she learns to sit by age 3 she will be more likely to walk.  Neither is to say she couldn't ever be seizure free or learn walk even if she isn't sitting within the year or a miracle happens with her seizure control, but the odds begin to stack against her as time goes on.  Luckily for all of us I never planned on seizure freedom for life for her and my main goal is only for her to sit, so even if it happens when she is 10 that would be okay by me.

Parts of this life are getting more challenging to process.  Everywhere I look I see typical 2 year olds, and I can't stop wondering what Sonzee would be like.  Even looking at the other children with CDKL5 mutations I can't help but feel like Sonzee was given the short end of the stick.  I wish she was at least happy and smiley, but she's constantly miserable and in pain.  I'm so worn down from it.  It's one thing to have a child not complete milestones, that in and of itself is devastating, but tack on a stomach with dismotility, feeding into the intestines, constant GI pains, and unhappiness, and that's the life of Sonzee.   

I'm having a hard time with the tube being gone from her face and it has only been 9 hours.  It was my safety net while out in public, it was how I coped with her not being a typical toddler...now it's hidden.  It will only be revealed by the question of "how old is your baby?"...I keep playing with the blue stroller=wheelchair placard I have to make sure it's clearly visible to strangers. I keep placing her feeding tube extension in a location that is noticeable.  I don't like this.  I feel like too much is changing, but not anything is changing and it all makes me feel like things are spiraling out of control.  I'm feeling like I have completely failed her in all areas and I wonder if that feeling will ever really go away...

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Trying to find the positive

Whenever I find myself getting sucked into the trenches I try to focus on something positive, even if it is a reach.  There is always a fine line of looking at the bright side of a situation and embracing it, but not fully relying on it remaining that way.  For me I have to be careful because the path of this journey can change in a second (literally) and then the positive reference is no longer.  It is because of the experiences we have had over the past two years, (during springtime especially) that I am having finding it more challenging than usual to find the "right" positive point.

It has been a little over 24 hours since Sonzee's last seizure.  It wasn't one of the scary ones, it didn't require oxygen after it was over, and she didn't sleep for hours on end.  I am so grateful for the past 24 hours, but I know better.  Maybe her medication increases are finally working.  Maybe her brain is being nice to her and giving her a break because it's been a pretty awful week, or maybe it is just giving her some time because of what is yet to come.  I wish I could be as excited as I once was over making it to 24 hours, but two years in and I know while it is a huge deal, the celebration will not last.  I am numb to seizures.  I wait and expect them and am more surprised than not when they do not happen.  Truthfully I prefer knowing they are coming because it is a certainty, something I can "plan", something "reliable", I do not like to be sitting here in anticipation.  So I am trying to focus on the past 24 hours...but I know the clock will reset.

It has been a significant amount of time since Sonzee has been inpatient and last year we spent approximately 3 out of 5 months in the hospital (not consecutively) from January-June.  Her health since her NJ tube was placed has been relatively stable, her feeding continues to be tolerated, her seizures haven't landed us in the emergency room requiring rescue medications.  I am truly appreciative of these blessings, but I know things can change by the time this post publishes.  I know too much of what can happen and I know she is not immune to anything.  I am trying to focus on the positive of all I have listed, but that almost feels as if I am asking for a challenge...and I am not all for tempting fate.

It would be nice if the current situation we were in did not leave me feeling a bit uneasy.  It is as if my brain and body subconsciously know things are going to spiral out of control.  I hope it is merely the fear of history repeating itself.  Since we are in this uncertain limbo, I am going to do my best to focus on the fact that she is stable and continue to try and find the "perfect" positive.
 

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Fairy Tales

The thing that I love about fairy tales is that even though you know they are not real, you cannot help but smile and think about how amazing that type of reality could be.  Just close your eyes and envision marrying your true love, having an even amount of boy and girl children, never having any health or family crises, living in the perfect house, and just ultimately having the perfect life.  The thing I dislike about fairy tales is that they are not real and no matter what happens in someone's life it will never play out with only the benefits of a fairy tale life, think of "the Truman Show".  However, the fantasy idea of happily ever after in all aspects of life is still something to be desired.

Sonzee's diagnosis of CDKL5 and the reality of how strongly she is affected by her mutation, typically leaves me with less of an emphasis on real hope and more of a dreamers, on a good day mentality.  If I have too much hope it tends to be more depressing and challenging for me to deal with it all, especially when I see how children with CDKL5 mutations excel in areas I honestly don't even dream about because those are even too far from our reality to fathom.  There are moments and sometimes-even days where she responds better to the challenges and those are the days when the possibilities of a fairy tale life creep into my vision and almost seem tangible.  Then like a puff of smoke, the fairy tale disappears.

I am trying to not be sucked into the "Debbie downer" mentality, but day after day of physical and emotional difficulties eventually take its toll.  I sometimes imagine that Sonzee will not fall victim to the typical impact of having a CDKL5 mutation.  Maybe she will remain seizure free forever, or she will eat by mouth and be free of tubing.  Maybe she will one day sit on her own, crawl, or even walk.  Maybe I will fall asleep at night and not wake up in a panic that she was the newest victim of SUDEP (sudden unexplained death of epilepsy).  Maybe we will just be a typical family of six where our biggest challenges are how to juggle four children's after school activities.  Maybe...POOF...our life will not ever be a legitimate fairy tale, but I guess it does not even matter because it is all about the story.

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Less than a year ago...

Less than a year ago I read a post on a fellow CDKL5 child's facebook support page that made my heart race and panic set in.  It was the night that Harper's mom Penny wrote that Harper was sick and that she was in the PICU.  I was so beside myself I didn't know what else to do other than write.  It was the only way I knew how to get my thoughts organized and the only way I felt like I could help because others read my blog posts and that would mean more prayers would be sent up.

At this moment I honestly feel like copying and pasting the first four paragraphs of that post.  I have no better way of expressing my thoughts right now.  Again, I find myself empty and broken.  There is yet again another child with CDKL5 being transferred to the children's hospital, in fact this time it is actually Sonzee's children's hospital.  It started as a fever and what we know is that Sonzee's CDKL5 sister, Lily, is very sick.  My brain is again clouded but this time more so with confusion.  How does a "simple" cold/fever become complex in a matter of minutes.  Why do our girls hide things so well?

I have my usual assortment of emotions; fear, panic, and sadness ranking among the top.  The shock component has sadly dissipated after living 20 months of life with a child who has a CDKL5 mutation.  Tonight my heart is breaking specifically for Lily and her family.  Lily's mom Kim was the first CDKL5 mom who I met in person.  She came to PCH during one of Sonzee's first hospitalizations shortly after her diagnosis.  She sat with Sam and I for a long time.  She is one of the sweetest and selfless people I have ever met.

Again I feel helpless and all I can do is pray for a miracle and hope to reach enough people who will do the same.  CDKL5 does not just take away the ability for our children to do daily tasks; it causes many tears and breaks an unnecessary amount of hearts far too often.  

Please pray for Lily and her family tonight.  Please pray that she can overcome this sickness and that my follow up post(s) will only be good news moving forward.  Please pray for the CDKL5 community tonight as we rally around our CDKL5 daughter and sister, Lily, as well as her family.

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"hope"

Hope.  Another small string of characters that play with my emotions on a daily basis.  I rely so heavily on this word and its definition, yet at the same time, I would prefer not to give its meaning any time or day.  There is a reason I have a love and hate relationship with this word.  It is one of those words that can make you feel elated and excited.  It can give you something to hold onto when there seems to be nothing to grasp.  Then on the flip side, it allows your mind to wander into a dangerous territory, into the unknown, and to give homage to Gene Wilder, "in [to] a world of pure imagination."

Hope is something I prefer to keep in my back pocket because I am more grounded without it.  There are those rare situations where my guard is mysteriously let down and I let hope sneak up on me.  I really dislike when that happens because when the situation unfolds in a manner that wasn't part of my dream of hope, well, it is safe to say it takes some time for things to get back to normal (and yes, definitely ice cream).

I predicted the results of Sonzee's EEG.  She has done enough of them (18 to be exact) for me to qualify myself as an accurate EEG result predictor.  I am by no means saying I could translate the actual EEG itself, but I can give a fairly accurate description of how the reading will be interpreted.

On Monday I shared my predictions, "I am pretty positive the reading will be "typical Sonzee", with her usual spike waves here and there, but nothing too shocking for a child with a CDKL5 mutation.   What I did not really say in my post were the words on the soundtrack that was playing in my head.

I did not share that there was a part of me that hoped and almost believed the reading would be "typical".  I had dreamt in my mind that her epileptologist would write to me and say, "Randi, this is her best EEG ever.  There is no seizure activity and her background is normal".  Along with the monologue in my mind, I envisioned Sonzee sitting, alone, unsupported.  I pictured Sonzee's picture watermarked with not only "sonyasstory", but also as an advertisement of how a medical cannabis product had completely changed her EEG.  Do not get me wrong, the RSHO is helping her cognitive capabilities (we think?), but nothing has performed the miracles I had hoped.

So now, I am sitting here thinking about hope.  Aggravated with the word even more because it is a necessary evil in order for me to travel along this journey, I would not be able to survive without it.  Yet I am so drained from repeatedly having my hopes blow up in front of my face like a latex balloon (if you are unaware of my fear and hatred of latex balloons, consider this the moment where I let you in on my secret).  While I am so incredibly thankful, that Sonzee's hypsarrhythmia is NOT back.  I am definitely saddened and disheartened that her EEG was not what I dreamed it to be...I guess that is just par for this course.

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Realization

It's EEG day.  I am much more relaxed about the possible results since she started Sabril 2 weeks ago.  I honestly do not expect to be told she has hypsarrhythmia, nor would I expect her background to be typical normal.  I am pretty positive the reading will be "typical Sonzee", with her usual spike waves here and there, but nothing too shocking for a child with a CDKL5 mutation.  Yet I am sitting here for the first time in her life wondering why we are even doing this EEG in the first place.

I have known since her diagnosis that seizures were the most challenging component of a CDKL5 mutation.  We have lived in a constant state of fear that they will cause significant brain damage or take her life.  We have treated her spasms (the most dangerous to development at her age) with steroids and now Sabril.  We have chased after complete control with practically every marijuana and hemp based CBD oil, along with straight THC (go ahead you can judge us).  There is always that wonder about what Sonzee would be like if we could control the seizures.  The fog of seizure control completely taking over the simple fact that she will always be missing a complete CDKL5 protein. 

Despite knowing that seizures are just another side effect of her missing protein, I often forget that even if the seizures are controlled, she will not ever be typical.  Even with complete control, she will always have challenges.  Truthfully, with complete seizure control the types of challenges I have seen in other children with the same diagnosis are in my opinion sometimes more challenging.  To the naked eye our kids look typical, but get up close and it is clear they are not like the average child.  

There really is no winning when it comes to the outcome of Sonzee's EEG results.  No matter what, the outcome is still the same.  If her background is typical, she is not going to miraculously be a typical 18 month old when the leads are removed from her head.  If they are typical Sonzee results, well then tomorrow is just like every other day she has had.  If for some reason my mom gut is on a complete vacation and it turns out that she does have hypsarrhythmia, well I am pretty sure Sam and I are not having her endure another round of steroids.  I personally cannot put her through that again myself.

I am coming to terms with the realization that no matter what we do to stop the seizures, there is nothing we can do to change the importance of the CDKL5 protein...and for that, I need to go and buy myself some more ice cream.

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Eighteen Months

My dearest Sonzee Bear, 

I do not even know how to begin this letter to you.  As I sit here the rain is pounding on the skylight, you and your siblings are sleeping, and your father is out at ice hockey.  I have so many emotions running through me right now I do not even know where to begin.  This has been a prominent occurrence during the past 18 months of your life.  I find myself constantly straddling two worlds simultaneously, the one where I am fighting back the tears because of sadness, and the one where I am fighting back the tears because of happiness.  One thing seems for certain, there are always tears.

In one more hour it will be exactly 18 months since I first ignored the signs that you would be making your debut 2 weeks prior to your due date.  A day after the day your father joked that you would be arriving.  In true Sonzee fashion, you had your own agenda planned.  Luckily, for the both of us, you did not make me wait long once you decided it was time.  In just 8 hours, it will be 18 months since I first held you in my arms.  18 months since you made us a family of six, a family of four girls and two boys.  18 months since our lives became part of a storm, similar to the one that is going on outside.  So much has changed since those first moments, yet so much has remained the same.

Since your arrival I have received many new titles; a mom of 4 beautiful children, a NICU mom, a mom of a child with epilepsy, a mom of a child with a CDKL5 mutation, a mom of a special needs child.  I embrace my positions with a smile, but sometimes they mask the pain that I feel for your suffering.  While I am thankful that we are celebrating this momentous occasion with you in our presence, it pains me exponentially that undoubtedly you will have at least one seizure today and you will struggle to communicate your wants and needs.  This day of celebration is clouded with the fact that you will be in pain in some form or another and just like every day for the past 18 months, there is nothing I can do for you to make it go away.

I have been waiting in anticipation for this day as I did with your siblings.  You of course have a specific outfit that was purchased with your personality in mind.  I had distant dreams of the accomplishments you might have achieved, but thankfully, I always keep the backdrop blurry so that you never feel like you have let us down.  I push you like I do your siblings, and while there are days that I am frustrated with the situation, I want you to know that you could never disappoint me.  I am just so thankful for your current capabilities and your consistent determination.  

These last 18 months have been so hard on me for a multitude of reasons, one of them being the constant worry that I am not honoring your wishes.  I just want you to live the life that makes you the most happy.  I sometimes wonder if that is just letting you lay on the green mat so you can roll off it 100 times while you secretly enjoy making me walk over to place you back on it.  You have such a strong fighting warrior spirit, which has become evident; as we have watched, you hover over the fine line of life and death far too many times for my liking.   

While there is no guarantee for anyone, celebrating birthday moments like this is bittersweet to me, as I live in constant fear that it will be the last.  So I apologize now (not really) for the insane amount of pictures and poses I will undoubtedly be making you participate in.  18 months is a date I was uncertain we would even reach with you a couple of months ago and yet it snuck up on me so quickly.  These last 18 months have been one big contradiction; I cannot believe how a year and a half has flown by and dragged on all at the same time. 

Thank you my little bear for helping me work on my patience, and for giving me strength I did not know existed.  Thank you for helping me find my voice and making me a better parent.  Thank you for helping me unlock a hidden desire and passion of writing, that without you would never have come to fruition.  Thank you for brightening my day with your crooked adorable wide mouth smile (when you are in the mood to do one).  Thank you for allowing me to hear your sweet little voice and even your not so sweet and loud cries.  Thank you for being a great teacher and student to your siblings who love you so so very much.  Most importantly, thank you for being YOU.

I hope and pray that these next days, weeks, months, and years of your life will be filled with more joys and accomplishments than seizures, pain, and sadness.  I wish for you many more "ema made" celebrations so we can see your cuteness as you are forced to wear ridiculous customized outfits that bring me so much joy and happiness.  I hope you have an idea of how much you are loved by us all.  

Moreover, thank you for the past 18 months.

Love always, forever and a day, 
Ema

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Some things do get easier

When your child receives a diagnosis such as one as involved as CDKL5 it is easy to get swept away in fears, doubts, and worry towards the future.  You immediately want to take the disorder by the horns and defeat it...there might even be a part of you that naively thinks you can.  You immediately go into "fix-it" mode.  Wrapping your head around the fact that fixing things is simply impossible is one of those concepts that is more challenging to "accept".  I can say for me at this point when I look toward the future I don't ever see myself being content with  not being able to do whatever I can to fix the effects of an incomplete CDKL5 gene, but I am learning that not everything needs to be "fixed".  

When Sonzee was first diagnosed everything to me about her future seemed to be equally depressing.  I would look at the older kids who also had the diagnosis and wonder if Sonzee would present with the same physical delays.  It was honestly really challenging to look at my 2-month-old baby and picture that her body would grow bigger, but her capabilities would remain the same as they were.  

As her journey continues to unfold I am less and less phased by her physical limitations but watching her having seizures....the seizures are for me by far the worst effect.  As I look toward the future, imagining her in an older form seizing uncontrollably makes my stomach to flips and flops.  I have no other way to describe the feeling other than just plain helplessness and sadness.  I can see how much 15 months of a diagnosis has changed my perspective and feelings and to be honest, it isn't all bad.

A year ago Sam and I took Sonzee to the CDKL5 clinic in Denver, Colorado.  We met other families and they all had much older children.  They were beautiful girls, quiet, content, and in wheelchairs.  There was one boy who was walking around and Sam was eager to learn more about him.  To be honest, we didn't find ourselves wanting to be around the other families, it was really difficult to take it all in.  It sounds so awful, but it was really challenging.  I honestly didn't even realize the psychological toll that it would take on us when I originally planned the visit.  Behind the closed doors during our visit both Sam and I were optimistic as the doctors told us to keep doing what we were doing with Sonzee because she was doing things that "other children with a CDKL5 diagnosis weren't doing".  We wondered if it was simply because Sonzee was the youngest diagnosed child and they didn't have children to compare to her at that age or if in fact, we had a rare gem in the world of CDKL5.  We left feeling a false sense of hope and with a false sense of confidence.  It wouldn't take us long to realize that Sonzee was just like every other child, and she wasn't going to be known in the CDKL5 world because of her extra special exemplary skills.

While it continues to be an inner struggle at times seeing pictures of children who also have a CDKL5 mutation complete milestones Sonzee isn't ready for, a year later I can say that things have actually gotten easier.  If I asked myself a year ago if I thought my mindset would be any different in regards to acceptance I would have told you "no, it won't get easier", but that isn't entirely true.  

On Sunday we found ourselves fortunate to meet with another little girl with a CDKL5 mutation.  Talk about becoming instant family friends (at least on our end).  As we spent time with her parents it was similar to seeing a childhood friend who you haven't seen in years, but instantly pick back up from where things were left off.  The hours flew by as we talked and let all of our children bond.  How special it was that our older children had other children who also have a sibling that has seizures, delays, and are different...but they all have a bond because they "get it".  I don't even know if they realize at their young ages how unique and special their relationship will be as they grow up.  It isn't even a doubt in my mind that they will remain in contact in some way.

Besides the amazing tips and information we took away from our visit, what stands out the most to me is how much I have actually begun to "accept" CDKL5.  **I don't know if full acceptance will ever occur, but this is a start.  The girls are almost exactly a year apart.  Her skills slightly more advanced than Sonzee but on the whole, they were very similar.  As I looked at Sonzee's CDKL5 sister, I could envision Sonzee in another year, it was at that moment that I realized I wasn't phased by what the future looked like.  This time, instead of being fearful about what Sonzee might not be doing I saw the possibilities of what she might be.  Here in front of us was a beautiful 2.5-year-old with a love for belly dancing scarves, who is smiley as can be, and communicates when she is upset and happy.  A happy little girl who is content with just hanging out and who enjoys being on her playmat.  I saw a glimpse into our potential near future and I could easily see Sonzee in her as if I was a pregnant woman looking at a newborn baby and imagining she was mine.  The same excitement and anticipation came over me as it would wondering what my other children will do when they turn a year older.  It was at this moment that I realized that while this journey as a whole is not going to be a walk in the park, there are definitely areas that will get easier.  There is a reason our motto is HOPE-LOVE-CURE, and I don't think I truly understand the meaning behind these words until yesterday, and I owe that to our new extended family in Blue Bell, Pennsylvania.

It's worth it

From the beginning of Sonzee's journey, Sam and I have been opened to pretty much any type of treatment that someone can present to us.  Even if there is only one person that the treatment has helped, we will give it a go to see if we can help our little bear.  We got a medical marijuana card early on in our journey for Sonze just in case we ever wanted to use more than hemp based cbd oil.  We were not sure we were ever going to "need" the card, but figured it would be best if we had it on hand.  

Back when Sonze was about 7 months, we started with the more well known Charlotte's Web brand and moved on from there when we felt that it was not the best fit for Sonze.  We then went on to try two more hemp based CBD oils.  Both of them came highly recommended, both of them have significantly helped at least one other child with a CDKL5 diagnosis with either seizures, cognitive abilities, or both.  Sadly, for Sonze, none of these seemed to do anything for her.  

After Sonzee's most recent hospitalization, we were left in the middle of a minefield if you will in terms of anti-epileptic medication choices.  It is really a hard place to be when you find yourself staring into the unknown unsure of what type of seizures your child will be up against, the frequency, the intensity and/or the duration; unsure of which drug will actually work.  Is there even one?  Sonzee finished steroids for her Infantile Spasms and hypsarrhythmia back in April, we weaned her Keppra finally in May, and it was just Depakote by itself to hold down the fort.  We were never sure if the Depakote was working for Sonze because her seizures had not really been visible since the steroids.  She had the occasional fragmented spasms indicated by her eye movement, but nothing else that was obvious.  After her blood transfusion eliminated the use of Depakote, we went back to Keppra out of sheer panic.  Neither Sam nor I ever felt it had any sort of control for her and she was always agitated and grumpy on it.  Since this was given to her when she was 3 months old, it was difficult to decipher what was Sonze and what were drug-induced behaviors.  After we weaned her, she was definitely happier, but Sam and I could not (still cannot) agree on the next step drug for her, so as a compromise and "holding drug" we went back to the Keppra.  It is tough to make these choices; I will leave it at that.

We agreed to help her mood and possibly cognitive capabilities we would go ahead and try CBD again.  In the back of my mind, I thought maybe it could help with her seizures, but honestly, it is really draining to put that high of an expectation on something that has already failed her multiple times in the past.  Instead of going back to one of the hemp based CBD brands we had in the fridge, we decided to take a drive to the local dispensary in our area and speak to those who are more knowledgeable.  We settled on a local grown blend and we were sent on our way.  

We started to give Sonzee the oil a little over 3 weeks ago.  Her seizures are back to what they were when she was about 5 months, once every 24-48 hours and lasting around the 2-minute mark give or take 30 seconds.  You might be feeling a bit let down at these words, but let me explain to you the wonder of this little green plant.  Three days ago about a minute and half into her seizure I decided I would see what would happen if I gave her CBD oil during her seizure.  By one minute 46 seconds, she had taken 2 drops and by two minutes and 10 seconds, her seizure was complete.  Was it the oil?  Was it just that her seizure was over anyway?  I am unsure.  Yesterday, her seizure began and at 30 seconds, I grabbed the oil, by 1 minute the seizure ended.  Today, her seizure started, I grabbed the oil, and the seizure stopped.  

I. AM.  A. BELIEVER.

The whole topic may be controversial, and people may lend their judgment to us for giving our child this oil, but honestly, I DON'T CARE.  If this oil takes away even 1 second of her suffering, I am on board and it is 100% WORTH it!

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