13 weeks

In 10 weeks our oldest daughter turns 10. That means in 13 weeks Sonzee should be turning 5. It’s a birthday I have never prepared for, a day I wasn’t sure would ever come, a year I told myself we might not get to experience with her. As it creeps close I am torn between potential excitement at all that turning 5 represents and fear that letting my mental protective guard down will only prove to be catastrophic should my worst fears become our reality.

When Sonzee was diagnosed with CDKL5 when she was only 8 weeks old I immediately joined the CDKL5 parent support page. The first 10 months was filled with so many infant, toddler, and less than double-digit aged deaths that it shook me to my core. Whenever I have been asked about Sonzee’s prognosis and if there was an “age limit” I would answer, “it is unknown, there seem to be benchmarks that you can semi sigh of relief if the kiddos pass them, but I honestly have told myself 5”.

Within a month of celebrating Sonzee’s 4th birthday I had a dream, that I had finally allowed myself to plan for her 5th birthday, I went on Etsy and purchased one of those birthday shirts that had the number 5 and of course had it personalized. Then she passed. I never have been able to tell if that dream was a premonition or just my anxiety but we have watched her decline tremendously since summer and I honestly don’t know where her little body stands.  I don't know where my mind stands.

As each day passes and February 11 comes closer I am internally torn. I want to plan for her birthday celebration, I want to look forward to her preschool/kindergarten transition, I want to know with certainty that 2020 will bring me a 5-year-old, but like with so many things over the last 4.5 years I’m cautiously optimistic, but preparing for the worst. My sister semi joked that I should just avoid buying her a shirt on Etsy, if only that could dictate her fate and if only I could allow myself to plan.  But instead, I hesitantly look towards the next few months with hope yet filled with this indescribable weight of something lurking in the distance that is completely out of my control.

Trepidation

The U-haul is sitting in the driveway waiting to be loaded.  I wouldn't let Sam put anything inside it last night out of fear of losing my visual guidance of the items I packed.  I just finished the last of Sonzee's boxes, but those are the last things to get loaded since Sam will have to take the majority of them out each night due to temperature parameters.  I remember the first time we traveled as a family of 3 with Sonzee's oldest sister.  We had so many bags and so many items all for this one little baby.  Now I look at Sonzee's section of the garage pile-which extends into the main area of our house so those items stay cool and I wonder how one person can require so much.

This year marks the 4th summer we will be going to NY with Sonzee.  The only summer of her life we missed was the first year she was born because we were so afraid she would start having infantile spasms and we would be in the middle of nowhere.  Every year since her doctors wish us well and send us on our way, reminding us before we go how proud they are for us not stopping our lives, how great it is that we still go, and how we can reach them at any time if we need to.  Every year we pack up and go more excited than apprehensive, however, this year I am filled with more anxiety than excitement.

This will be the first time we will have traveled out of state with Sonzee since she had her central line placed in December.  This will be the first time she will be on TPN/Lipids and we will not be within a familiar hospital's nurse's reach if she has an emergency or needs emergency labs.  The closest hospital is a regional center that we have visited once and she was out of their comfort zone and all we needed was basic abdomen x-ray.  I am so beyond fearful of a fever.  I am scared out of my mind for a central line infection.  Will she require air flight if that occurs since the children's hospital (that her amazing GI told us to use because she knows the doctors and will coordinate her care once we tell her we are on the way) is over 2 hours away?!  I want to plan and prepare, I do not even know how, and I want it to be a complete waste of time and worry.

Losing

Death.  It is something that happens entirely too often in our already small CDKL5 community.  Every year I find myself and other moms I am closer with saying, "this is a bad year".  In reality, I am pretty sure every year since Sonzee has been diagnosed has been "a bad year".  Just one loss is honestly too many, and we have yet to finish a full 365 with only one loss.  When the losses come back to back, weeks or months apart it is especially more difficult.  Each death shakes our entire CDKL5 family to the core.  We break for the child's family first and then we break for ourselves.

Age doesn't matter.  My heart aches for the families of the babies, of the toddlers, of the school-aged, of the teens, and of the adults.  I walk around wondering when will it be our turn to join #lifeaftercdkl5.  I wonder if it really is even life after CDKL5.  Does family life with CDKL5 actually end?  I know the day to day dealings do, but you can't exactly end the life you gain with a diagnosis of CDKL5.  CDKL5 will forever be part of our life. 

Today, Sonzee's CDKL5 sister Sadie was laid to rest, for some reason her loss seems to have sent a tsunami of a ripple into our close-knit family.  Maybe it is the fact that it was "unexpected", yet at the same time, was it?  Our children suffer daily, whether it's publicly shared or not.  If you have a child with CDKL5 you know this.  It sadly really isn't ever a surprise that it happens, it is just the punch when you find out who it ends up being.  I keep thinking that there isn't anything left of my heart to break, but then another loss is shared and a new crack begins.

It has been 4 years and 2 days since we were welcomed into this family.  A family that continues to grow yet continues to shrink simultaneously.  A family that honors those we have lost with bows, colors, words, gifts, letters, fundraisers, and the hope for a cure in their honor. Prior to 4 years and 2 days ago we weren't aware that there was even a potential of losing Sonzee at an increased risk to that of her siblings, yet now we seem to be reminded of that reality every single day.

Going back

I can remember when Sonzee was newly diagnosed and my biggest fears were of her never meeting milestones.  If you had asked the me of four years ago I would have told you that I would love for her to be sitting at a year, but realistically it would probably happen closer to three and maybe even not until she was five.  I told myself I wanted her to crawl before she walked because it was clearly a developmentally necessary milestone for typical children.  If you spoke to me in person during her first year of life I was more preoccupied with her physical capabilities and what potential damage the antiepileptic drugs were doing to her little body that were negatively impacting her physical progress.

Recently someone asked me if Sonzee was more alert than she was as a baby? If I felt that her early exposure to water therapy and physical therapy made a difference.  It was one of those times that I responded and felt sorry that my answer was not going to be offering the traditional hope this parent was seeking.  I know one day they too will come to a point in their child's journey where a sense of calmness over the outcome will blanket them and my response will feel more of a comfort than a slap across the face.  I wanted to give more with my response, but I knew it wasn't the right time, so I just stuck with the facts and "cushioned" it with Sonzee is more severely affected by her mutation.

I wish I could sugar coat the journey of CDKL5 for those who are just now starting out.  I wish I could go back to the me of four years ago and stand in front of the teary-eyed mom wondering where we would be four years from now and let her know that the journey is going to be hell and the line items of priorities are going to take her by surprise.  I wish I could tell her to not waste those precious first years worrying about whether Sonzee was going to sit, crawl, or walk.  I wish I could tell her that she is going to be faced with actual life or death situations and it won't matter if she is sitting or walking when the real serious choices are being made.  I wish I could warn her that what she is about to endure will leave more holes in her heart then she will ever be able to close.  I would let her know that her views on people and situations will change but she will find a safety zone where she can say and feel what is on her mind and know she is truly not being judged.  I wish I could go back to the me of four years ago and tell her that she better buckle up, because this roller coaster is going off the track, and it doesn't matter if Sonzee is sitting on her own on the floor or being fully supported in a 5 point harness...just be grateful for every day she is still sitting next to you.

Prepare

At night I tend to relax by scrolling mindlessly through facebook.  I do not understand why I have always been a magnet for seeing what feels like 50% of my feed being awareness/prayer warrior pages for children, yet I find it impossible to escape it.  Prior to Sonzee, I was hit hard in particular by three children who ended up passing away.  After Sonzee's diagnosis, I had to start to separate our reality from others, because it was honestly way too much to carry on my shoulders.  It is not that I care any less about the children being shared, but my heart and mind understand the situations in an entirely different manner now, and the words "I cannot imagine" have turned into "I get it" or "I soon will".  Even when the diagnoses do not align perfectly, the situations faced living with a child who has a life-limiting or terminal diagnosis overlap in some way, shape, or form.  It brings the feeling of suffocation to an entirely different level.

Last night two different posts popped up on my screen, back to back, neither giving me a chance to catch my breath.  Two little babies lost their battles with their respective medical complications.  Two families shattered into pieces.  The specifics of the situations different, the outcome the same.  My heart is left broken for them, and I do not have any first-hand experience with this yet.  No one goes into parenting volunteering for the position either, I wish I knew how those who are gifted the fate were chosen.  I wish (I am sure like anyone else) I knew what I could do to avoid it.  Rationally I know there is absolutely nothing, and I tell myself "it can happen to anyone", but we all know the odds, in this case, are more so in our favor.

So many stories I followed involved rare diagnoses, ironic that we are living out our own journey of rare.  It absolutely breaks my heart that so many of us are living rare.  It definitely makes it feel much less rare.  I have certainly learned that statistics really don't mean much once you become one.  I have also learned that you have to keep putting one foot in front of the other and just living each day as it comes because anything can happen.  Things can go from stable to critical in seconds. Things can bounce back to completely fine in a matter of minutes.  The curve balls keep being thrown, and the bat keeps having to be swung.  The rare life isn't so different than our life from before.  We still have no idea what is going to happen, how, when, or why...the only difference is that we can tell ourselves we get to prepare.

Rafting

10 years and 3.5 months ago while Sam and I were on our honeymoon we went white water rafting in New Zealand.  It was my first (and last) time ever setting foot inside an inflated flotation device holding onto a oar and wearing a life vest.  I remember the (short) training we underwent prior to getting in the raft and for some reason we were chosen (maybe Sam volunteered) to be in the front.  Sam was ecstatic, I was not.  Immediately after we began the course I felt completely unprepared, and I fully regretted the decision to accommodate his adventurous side.  About 5 minutes in after our first wall of water rolled over my head I was done.  I was scared to death, I had just swallowed water, I saw my life flash before my eyes, and I wanted nothing more than to get out of the raft.  I looked over at Sam who was having the time of his life and who at first didn't notice the tears streaming down my face because of all of the water; and then I told him "I want to get off", to which he replied "this isn't a ride Randi, you can't just get off".

These past 13 days I have been learning everything I never knew I wanted to know about a central line, and specifically a port.  The last time Sonzee was on TPN she had a PICC line and for some reason, maybe it was because she never went home with it, or because I knew much less, I do not remember it being as scary.  Every time I wake up throughout the night I check her cords and the needle.  In the morning I do the same and sit in bed with her, careful of the lines, but completely fine; by the afternoon when we do her daily CHG wipe down, change her clothing and sheets my brain remembers she is leaving the hospital with everything on her body, and by the time the new TPN/Lipids are brought into the room the panic begins to set in.  As soon as the bag starts to get primed my body goes into a full blown panic attack, and all I can think of is my experience on the raft and all I want to do is scream to the nurses to remove the port, tell her doctor to stop the TPN, and run out of the hospital.

I cannot stop thinking of every way these items could potentially kill her.  Changing the tubing connector leaves an unfiltered opening directly to her heart, bubbles not removed from the tubing appropriately can cause air to get into her vein, bacteria not cleaned from her skin or accidentally transferred from the tubing or the nurses, or myself can cause an infection and lead to sepsis.  What if all of this does not even help with her GI issues?  What if she just suffers from a potential consequence of the we have to try?  What if this ends up being the worst choice?  I remember our first consultation with her surgeon almost a year ago when he went through the lists of risks and then said "but just know, when it comes time and you make whatever decision you make, just remember that even if something happens it doesn't mean it was because of your decision".  Those words played in my mind so many times as we made our final decision to move forward, and maybe I even told myself they made sense, that they are rational words, and I believed them.  Yet, for some reason now that we are living this reality I already feel such a heavy weighted guilt over where this could potentially take her journey.

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Avoidance

It's 10:15 on Sunday night and I am sitting by my desk at home.  It is the one night a week I allow myself to sleep at home when Sonzee goes inpatient, specifically because it is Sunday night.  Not much happens on a Sunday night at the hospital, so it is "safe" to let Sam stay.  I only sent one reminder text to have him make sure the nurses wore their masks when they changed the tubing on her central line, so I think I am doing well.  The washing machine and dryer are running their cycles, there are lullabies playing in the kids rooms, and everything is calm; except I have already stopped myself twice after I swore I heard Sonzee's seizure sounds and I felt my stomach fall. 

This happens every Sunday that she is inpatient and I sleep at home.  I don't understand why my mind cannot take even a few hours off.  Once I hear the sound, the panic fills my body and it takes so long for me to talk myself down.  My thoughts start to bounce all over the place.  I sent Sam a text and of course she's snoring away with some soft music playing in the background, calm as can be, so that should give me some comfort.  Yet I feel like it is never really about the "seizure sound" when she isn't around.

The "seizure sound" is merely a lightning bolt that matches the internal struggle of chaos I feel over every admission she undergoes.  Most probably because they are never straight forward simple admissions.  They are always weighted and involve "small" but really massive changes.  Her admissions are the times I am unable to ignore the medical complexities that are very much a part of her daily life.  I have no choice but to actually face reality when she is in the hospital, and I would much prefer to stick on my smile and say "she's okay", "she's Sonzee", or some other simple pacifying phrase.  I dislike the nagging panicky feeling that accompany the majority of the situations with her life, and I really dislike when there is no way to avoid dealing with them.

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Anticipation

Last Thursday I wrote a message to one of Sonzee's doctors after we had finished the last of two important appointments we had last week.  Every time my hospital app sent me a notification I was hoping it was her, but each time it was not.  I don't know what kept me from sending her a follow up message to check if she received the first one, but I just did not.  Maybe it was that I knew she would be handling things behind the scenes and eventually get back to me, or maybe it was because I didn't really want to hear what she was going to say.  Either way I let things go.

This morning Sam handed me the phone and it was Sonzee's doctor's nurse.  I knew it was her before she told me it was her just by her voice when she said "hello".  I listened to everything she said but despite my participation in the conversation my mind was 100 miles away attempting to process everything that is coming our way.  I do not know if it is even anything I will fully be able to process until I get to play the "hindsight" card 6 months from now.  If I let myself start to accept these feelings I immediately get sick, so I have been doing my best to just push it all away.  I honestly do not know if that is smart, and irregardless it is working less and less.

I spent half of my day yesterday either successful with my endeavor to ignore my emotions and the other half warding off the anxiety attacks that kept occurring.  I know change is inevitable when it comes to potentially improving Sonzee's quality of life, but the risks that accompany the potential for success are sometimes scary to justify, yet necessary to face.  If only that crystal ball could give us a sneak peak at the future and allow us a cheat at knowing how things will unfold.  I know that is not how this whole game of life works, but oh how I wish it were.

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Chasing

She’s out on the corner trying to catch a glimpse
Nothing’s making sense
She’s been chasing an answer
A sign lost in the abyss, this Metropolis

It has been a little over 2 years since we first and last dealt with Sonzee's GI issues.  We have never really gotten a clear answer as to what is going on besides CDKL5, and the bandaids we have used always seem to fall off.  It has never sat well with me, but after searching in and out of state and with multiple professionals, "You are doing amazing with making the best out of a less than ideal situation" has always been how we have ended nearly every discussion on the topic.  Maybe that phrase is supposed to make me feel better over what little bit I feel we have been able to do to comfort her?  Maybe it is supposed to make me actually believe we have and are doing everything we can for her?  Maybe.

Here we are two years later, no better off, but not for any lack of trying.  If only that made our current situation any different.  We will be having another care conference, and for some reason I feel the same way I did on March 15, 2015 before I realized we were going to live a real-life nightmare.  Finding myself completely caught off guard despite knowing deep in my gut what the situation is.  No idea what I expect to happen but knowing something must happen.  Praying I am wrong while hoping the situation will just fix itself all on its own despite history proving repeatedly that will not be the case.  There is a heavy rock sitting in the pit of my stomach leaving me unsure what best/right choice will lift it and wondering about unanswerable questions.

I will never understand why our Sonzee must suffer the way she does.  I will never stop praying for the suffering to end, despite where that leaves me on this journey.  I will continue to tell myself and attempt to believe there is some real significant meaningful purpose behind all that she has to endure and hope one day it will be visibly revealed and that the bitterness inside me has not eaten me alive by that point.  

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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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Dear parents

Dear parents who have a child with a life limiting diagnosis,

I know you are afraid.  You dreamt about this child long before he or she was born, and those dreams did not involve a rare disorder.  Now you have found yourself parenting in uncharted waters, unsure of how your child's particular story is going to end but knowing in the deep recesses of your soul it most likely will end before yours.  Not everyone will understand, not even every parent who has a child with the same diagnosis of yours, but that is okay, your fears are real, and the thoughts are okay.

I know this is scary.  Each day you wake up wondering if today will be your child’s first time completing a long overdue inch-stone, or the last time he or she will make an attempt.  You do everything you can throughout the day to ensure that if tomorrow does not occur you did the best that you could, hoping that it will maybe prevent the inevitable guilt you will most likely feel when eventually tomorrow does not come.  When the day comes to a close you secretly wonder if this will be your last time you will both take part in their bedtime routine.  You kiss your child goodnight and give an extra squeeze, you just never know.

I know this is lonely.  The subject remains taboo.  You fight within yourself whenever one of these negative thoughts pop into your mind.  Others will tell you to "not to think like this" and or that "it is not healthy", so you are left to wonder if you are the only one who thinks about these things.  You are afraid to talk about death and your child in the same sentence openly, not wanting to be silenced by those who might disagree with your feelings or be misunderstood by those who really have no idea.  You feel a sense of entrapment, suffocation, and uncertainty.

I know this is your life.  So, do your best to make the most of every situation.  If you have other children, then these thoughts in the back of your mind will inevitably make you a better parent.  I know you are not alone, because I am someone who gets it, I am someone who thinks these thoughts, I am someone who lives this journey along with you, and I am someone who will be here when your reality becomes real.

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Playing the part

I often find myself wondering why people are "chosen" to live the lives they are specifically given.  I like to equate it to casting actors in a movie.  The majority of the time I find myself saying "no one else could have done that role as perfectly, the casting director did a fantastic job".  Occasionally, there are those movies that might have been a bigger success or at least turned out a bit differently had another person been given the part.  However, there is nothing that can be done after the roles are assigned and the movie is created. In all fairness, it is difficult to see how good or bad the movie will be until it all comes together and at that point the actors did their bests, the movie is what it is, and there is no going back to the drawing board.

The thing about casting is that it is highly subjective.  For whatever reason the specific actor was picked and not everyone might agree with that choice.  I find myself wondering if the actor selected always feels that it was the best choice.  Maybe someone else urged them to try out.  Maybe they went for it on a whim.  Maybe they did not really feel they would get it.  Maybe in the end they did not actually want to be that character.  Yet here they are given a specific opportunity to represent this character.  They have to now give it their all and put their best foot forward.  They have to become one with this character as if they have always been this person.  They have to own their role.  For better or worse this is what it is.  There are no ifs, ands or buts about it. 

This week especially this has been on my mind.  I have been cast into the position I have been for literally G-d only knows why.  Despite my hefty desire to shout up at the sky and say "what are you doing?", "why is it I can handle this?", and "how is this even possible?" I am playing this part because it is mine.  I didn't realize I had been auditioning and I am sure someone else can do this entirely better.  I have no idea in what direction this movie is going, or what the end will look like.  All I know is that this was given to me for a specific reason and like I have been doing since April 2015, I will just keep having to fake it until I make it.



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Inner conflict

I have been staring at an empty blog page for close to 2 hours.  I have so many things going through my mind and emotions traveling through my body.  My inner dialogue is about as organized as my diaper bag, and to lend some insight, I just took out an extra outfit for Sonzee's baby brother that was a size "Newborn"...he will be 5 months in less than a week.  For some reason, the impact of CDKL5 is all of a sudden just hitting me hard, and I cannot escape it. 

While the more rationale part of my brain tells me “You cannot live like this.”, the other parts are not strong enough to win that argument.  The trauma caused by this diagnosis has planted its roots deep into my psyche, making things feel impossible.  I try not to live in the fear of the potential of losing Sonzee on a daily basis, telling myself that “the length of life is not certain for any of my children”.  I am trying to convince myself that Sonzee’s baby brother is going to be a typically developing child, and that when my children have “minor aches and pains”, they are just minor, that they “will not be the worst case”.

I cannot decide if I am spending more of my time panicked about the potential “worst cases” or trying to thwart those thoughts?  Each day I wake up and for a split second I feel calm and at inner peace.  Then the panic fills my chest as if I just breathed it in, and then it finds a nice cozy spot inside and just sits.  I cannot breathe it out, I cannot make it go away.  Every moment from that point on is spent trying to tell myself that what I feel is not healthy and that I need to not focus on these things.  I can only try to take deep breaths, ignore the heaviness, and pray for it to go away. 

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When history repeats

They say "history repeats itself", I sadly don't need to look back on my December blog posts for the past two years to know this is true.  Every year (at least since 2015) around this week in December and into the early spring months, there has inevitably been at least one post asking for prayers for a CDKL5 sibling and their family.  I hate to say that I am numb to reading the posts, but sadly I know what this time of year brings to our small knit group.  It is too painful to accept, but this is just part of our "normal"; yet there is absolutely nothing about it that is normal. 

This time of year is supposed to be full of happiness, full of joy, and full of hope.  Yet there are so many families who are full of the fear this season brings, me included.  It is a time for many that is full of the fear of illness and of hospitalizations, and the unspoken fear that this might be the last holiday season our children will participate with us.  Many will say not to think in negative thoughts, to them I will reply these are simply the facts of living with a medically fragile child. 

Lately my heart feels suffocated by CDKL5.  I feel angry that a "simple" change in genetic coding can have such profound effects.  I feel betrayed in a sense that it was my daughter who was one of the "lucky lottery winners", and my family who has to know the intricacies of this type of life.  Every day finding the positives in living life knowing this string of characters is a choice I have to make.  I make this choice because it is what I need to do to survive, but there is so much heartache, so many fears, and so much grief.  Today I am grasping at the positives, but watching as CDKL5 history repeats itself is causing me to fall a bit short.



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I Did not know...

I had a lot of assumptions of how things would be with a new baby after having a child born with a rare and complex genetic disorder resulting in intractable epilepsy.  I imagined the Moro reflex would make me question infantile spasms and that any type of twitch, jerk, or shake would cause my heart to skip a beat.  I assumed that leaving the hospital without a NICU stay would be emotional, and that the fact my kids were able to wear their "big/little" sibling shirts would cause me some tears because we never got around to doing that when we had Sonzee.  I figured that at some point it would be bitter sweet as I watched Sonzee remain frozen in time and our new baby advance and meet milestones.  What I did not anticipate or did not know (how) to prepare myself for was the constant flashbacks and memory reels playing in my mind of Sonzee as our new baby does something similar to a seizure, but is just being a "typical baby". 

I can vividly see every seizure she had while in the NICU that had me on edge, but that happened too quickly for any medical professional to share in my concern.  I can clearly remember saying to my mom during that first week in the NICU that my fear was Sonzee was constantly seizing because of her wonky eye movements.  I remember when my dad told me "the thing about seizures is that you just have to wait and see".  I don't even have to close my eyes to see the video of Sonzee's seizure that won us her ticket to the PEMU at PCH at just 4 weeks old.  I can "play it back" in my mind on repeat and tell you every detail.  I know it is completely acceptable that I am on "red alert" with Sonzee's baby brother, but I didn't expect for every little similar movement to bring back the live playback of Sonzee front and center. 

Despite relying on the statistics that "it would be extremely rare" for another child of ours to have CDKL5 or even another de novo mutation, there was and is a constant fear lurking in the back of my mind about "what if"; after all, Sonzee is an extremely rare statistic.  There is nothing anyone can say that will calm the fears of the potential of rare occurring in any facet within our family.  Despite a friend of mine who has a 2 year old daughter with CDKL5 and an infant son warning me that things would be different this time, I shrugged the warnings off, because I am a seasoned neurotic mother and all but one (now two) of my children have been to a neurologist at some point in their lives for various reasons. 

I did not know that a simple sound, eye flutter, or body movement would cause my body to freeze and bring on a complete panic attack.  I did not know there were so many "weird" things that newborn babies can do, and I have no idea how I did not notice these with my first three, or did I?  I did not know there were so many ways to analyze "typical baby behaviors".  I did not know how scarred I am or how tainted my views have become due to life with rare and specifically CDKL5.  I didn't know so much fear circulates within my body that I bury on a daily basis.  What I did not assume or know was just how mentally challenging a baby after Sonzee was going to be.

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Comfort

On Wednesday I took little man to his 2 week checkup.  As we walked into the room the nurse asked me if I had any concerns.  I paused for a moment as I formed the thoughts in my mind to attempt a coherent sentence aloud, and then muttered the words, "Concerns?  umm...I don't know if I would classify anything as a concern...nope".  We did the typical weigh in, head circumference, and height check, and then she said that our pediatrician would be in shortly. 

When our doctor walked in we engaged in our typical small talk and she looked over little man.  I don't know why, but every second felt like an eternity, as if her thoroughness meant she was going to tell me something was "off".  Besides commenting on his clogged tear duct and writing a script for some eye ointment, she never mentioned a concern.  Near the end of our visit I mustered the courage to bring up my "not really concerns, concerns"...

Me: "Ok, the "typical baby shakes" when do they end?" (I was relieved when her face said "you aren't crazy")
Dr. K: "Oh, those can be a couple of months",
Me: "Ok, because they are honestly making me crazy, even though they are completely different than Sonzee's 'shakes'".
Dr. K: "Well you can always send me a video"
Me: "You'll just tell me it's normal
Dr. K: "But if it makes you feel better..."

Will anything short of a PEMU stay, genetic testing, and time actually make me feel better?  Despite trusting ALL of Sonzee's doctors as much as I am capable of trusting a medical professional, words without anything tangible to back up claims will not calm my mind or fears.  Almost 3 years ago I told multiple doctors and nurses my concerns over my 20 minute old daughter and none of them listened.  The NICU nurses and doctors while amazing, never entertained seizures and Sonzee's original pediatrician also told me "you have a healthy baby" and "babies do weird things".  I don't fault any of these professionals, Sonzee is rare, early onset seizures are NOT typical, CDKL5 is NOT common; but besides having to rely on my (conflicted) gut, time, faith, and hope, I am not sure there is anything that will give me actual comfort.



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It's not just me...

Our lives forever changed when our Sonzee bear entered into this world.  It wasn't just mine and Sam's, it was also her two sisters and one brother who became immersed in a world of medical jargon, hospitalizations, and talk that is not exactly suitable for children.  They (as most children do) adapted quickly to our normal and made us as parents even more proud than we knew was possible as we watched them interact and include Sonzee in their sibling activities.  No matter what though, it never was the older sibling experience that they would have asked for.  Sonzee's oldest sister wanted (and still wants) nothing more than to hold her and walk around, or hold her hand and help her walk, or get on all fours and chase her around.  All of these experiences have just not been possible, and while sad, our oldest as resilient as anything, has made the best out of the situation.

When our oldest found out we were expecting this time she was so excited, I was so excited at the hope of providing her a new healthy sibling that she could tote around and interact with in a more typical manner.  Apprehensive but optimistic we answered her with "g-d willingly yes", and "hopefully that will be the case", as she asked if she would be able to do all the things she isn't able to with Sonzee.  Fast forward to 3am on the morning her baby brother was born.  She was too tired to sleep once she woke up and found our baby sitter in our house and so when Sam went home to grab some items the first question he was met with was, "Does baby have CDKL5?"

We did a screening during our pregnancy which indicated at 97% her baby brother does not have CDKL5, so Sam told her g-d willingly no.  I don't think I mentioned to anyone that our oldest asked that question because I was honestly so heartbroken about it.  I wasn't heartbroken that she was concerned or that she asked in general, I was heart broken because with her asking that question it showed me just how impacted she has been by her sisters diagnosis.  In her almost 8 year old way, she let us know she too is scared of her baby brother not being typical and or healthy.  I honestly can't and don't blame her, as a parent I am petrified of anything being "off" with this little dude.  It is just part of the everlasting scarring that is brought into a family once they become a rare statistic.

As my oldest holds the baby and he makes random, jerking movements more than once she has either stated "that looks like a seizure ema", or "is that a seizure".  I have to admit my heart skips a beat each time she mentions it, yet attribute it to any potential denial or overt confidence in my gut, but I assure her that "babies do weird things".  I am continually talking myself off the proverbial ledge of panic attacks, and have managed to have only 1.5 in his 12 days of life, I will take that as a success.  Thankfully our pediatrician understands and is quick to reply to my messages of panic.  I think it is going to take us all some time to accept that our little guy is (appearing) healthy and (g-d willingly) typical.  While there is some comfort that it is not just me, I so wish it wasn't my 7 year old who is laced with this same burden.

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A new form of guilt....

Within the next 2 weeks or so our little bear is going to become a big sister.  I am eager and excited about this new addition to our family, yet I have not even packed my bag.  (Full disclosure, I packed for Sonzee while in labor and running out the door).  I really am looking forward to everything that comes with having a newborn baby, but despite the typical massive amount of pregnancy hormones circulating within my body,  there is a cloud of guilt and sadness hanging over me.  I do not want to assume everyone who follows Sonya's Story understands the needs of a child like our dear Sonzee bear.  I do not want to assume everyone knows how much care she requires.  I try not to mention the sleepless nights encountered due to her constant alarming pulse oximeter letting me know her heartrate has skyrocketted (or on some occasions her oxygen has plumetted) and she is having another seizure.  She is dependent on every level.  She is unable to be left alone, she has to be buckled into swings and bouncers at all times.  She is unable to be placed on the ground in a seated position "for just one minute" so something can be grabbed.  She is unable to feed herself, and in fact in her case, her food bypasses her stomach and goes directly into her intestines so she doesn't eat in the typical fashion.  Her tube feedings are prepared in advanced and placed in the fridge and refilled periodically throughout the day and the night due to a continuous 20 hour a day feed.   She requires medications, patching, and various position changes throughout the day on top of the daily needs of a child.  Her needs are that of a newborn baby, in all ways, literally.   

It was decided shortly after we found out I was pregnant that we would need extra help around baby's arrival.  When you have a Sonzee bear, you can't rely on family to take care of her needs, it wouldn't be fair with everything they have going on.  Thankfully here in Phoenix we have a place I have mentioned previously called, The Ryan House, where you can send your child if he/she is diagnosed with a "life limiting" journey.  They give you 28 days a year where you can send your child and he/she can be surrounded by nurses and volunteers in a loving/caring environment who will give your child the 24 hour care required to provide some respite to families.  Since they fill up quickly, back in May I called up and booked Sonzee for the last week of November, a weekend at home, and then the first week of December.  We had our phone call with the head nurse Wednesday, we updated her medication list, and we are now down to her first check-in in just 10 days, and my heart is breaking.

I realize my limitations of being able to care for 3 typical older children, a Sonzee, and a newborn baby simultaneously in the first couple of weeks.  I know deep down this is the best place for her to ensure she receives the care she deserves and requires and all of our other children do as well.  We are able to take her in and out of the Ryan House as long as she returns to sleep.  Her nurses are able to be with her on their regular schedules.  She is literally in the building next to the hospital I will be delivering the baby at.  There is really nothing negative about the setup, except the amount of guilt I feel over having to place one of my children outside of my house to welcome a new one.  I am not the only person to have a special needs child, other children, and be welcoming a new baby...I feel like I should be able to handle it all.

For 2 years and 8 months my older children have made sacrifices because of their sister.  They have had to endure experiences no children should ever have to, and they have done it with amazing stride.  They had no choice, none of us had any choice when it came to Sonzee's diagnosis, and I have not stopped feeling an immence amount of guilt because of it all.  Yet as the days get closer to welcoming this new little person, I am scared of how it will all play out.  This is different because Sam and I made a choice to have another child despite having a Sonzee and 3 other children and with it comes a whole new form of guilt.


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Memories

Tuesday was the first time in a long time that I waited for Sam to get home from an activity with Sonzee's sister, so I could take little bear over to the ER.  It had been so long, but the motions were so routine it was as if this was part of our daily schedule.  The same wave of feelings crashed over me, which was basically a contradiction in and of itself; a slow motion out of body experience of not wanting to go, paired with the rush of having to get there before the stranger somewhere else in the Valley who was inevitably racing to beat me, so we could both "beat the rush".  I have learned over the past 2 years and 8 months that it doesn't matter how long it has been since we have been to an ER, stayed in patient, gone for a routine appointment, the emotions and memories within won't ever go away.

You can literally see the top lights of the children's hospital from our street as you pull out of the driveway.  The drive itself is at most 10 minutes covering 4.9 miles.  Our house backs up to the freeway, so it only involves the street lights to get on and off, other than that it is a straight drive, 4 exits.  There is no thinking involved, except for the thoughts that inevitably push their way to the front of my mind.  The thoughts that bring the cloud of tears that I spend a good majority of my time pretending don't exist.  The thoughts that tear at my heart and remind me that our life won't ever resemble typical.  

It was how I scarfed down dinner and three children gave us both hugs and kisses goodnight, while one asked in a blunt manner if Sonzee would be coming home.  How none of them were phased by this event.  How I got to the second set of lights prior to turning into the hospital and I had a complete breakdown of fear wondering how this was going to work with a brand-new baby in just a few more weeks.  All these thoughts compounded with the worry of whether going was the best decision and what could possibly be causing one of her first fevers that wouldn't settle even with alternating Tylenol and Motrin.  

It was a bombardment of thoughts that wouldn't let up, the ones that don't give you a second to catch your breath, the ones that are far enough away on a daily basis that you don't feel their constant weight sitting on your chest, thankfully because it allows you to breathe.  In a simple moment you realize they never really went away, they were just hidden in a compartment to keep you sane and functioning.  It doesn't matter how much time passes or how "good things may be going", they are there like a swift punch to the gut to bring you back to the reality of the special needs life you are part of, the one that no matter what, you won't ever be able to escape.

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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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