Rare Disease Day 2021....CDKL5 is....

For the last couple of weeks or so I have watched my newsfeed transform into this advertisement for rare disease day.  I suppose that is my fault for having the majority of my friends from the world of rare.  Maybe that in itself isn't the fault, maybe the fault is that I haven't snoozed them? It has been a day on the calendar I have always felt conflicted over since 2016, never sure whether it was a day to celebrate or berate.  The purpose I suppose is to have a day to give recognition to all of the rare that is a part of the world. Another day to raise awareness over various disorders that might not have the recognition that is needed to find cures or monetary assistance to conduct research.  For many families, it is a way to bring to light that despite the struggles that their children or family member face daily they are strong, they have prevailed, and yada yada yada.  However, for me, a year and 25 days after I had to bury my rare, I feel like it is just another day to slap me in the face.

This year specifically the CDKL5 community in America decided to post pictures of their kiddos with signs that say "CDKL5 is..."  The first word that came to my mind to complete that phrase, "CDKL5 is death".  Probably not the cute # that the community was or is going for, but the truth and reality for SO many nonetheless.  I didn't bother to submit my picture of Sonzee's gravesite or of a picture of her from when she was actually alive holding a piece of paper that was photoshopped.  I am fairly certain it wouldn't have been shared, you know since it could be too depressing, or possibly make others afraid.  You know, as if pretending makes the harsh reality somehow not exist?  Or as if not talking about the reality of rare and the potential of life after rare makes it so other families don't join this dark side of rare!

I understand better than anyone how challenging it can be to have the fear of death hanging over your shoulder when it's your child who is still living and breathing with the same rare that took away Sonzee.  I understand that maybe posting #brave or # some other positive word is just a way to try to focus on the bright side, to try and remove the haunting bad Joo Joo that hangs over your head every day.  Or maybe, parents really do think that what happened to Sonzee is the rare of CDKL5.  Maybe they aren't ready to acknowledge that CDKL5 can actually be the sole cause of death.  But, today on February 28, 2021, when everyone is doing their best to get the word out about rare, just remember, to many, CDKL5 and other rare diseases are #death.     

CDKL5 Awareness 2020

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

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

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

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

To the newly diagnosed parent of a child with a rare disorder

To the newly diagnosed parent of a child with a rare disorder,

I have debated on what to say to you or your family member as you join our support page because the reality is that you are currently seeking something to keep you continue breathing as you are embarking on this journey.  You are wanting a lifeline, you are wanting something tangible, something to actually grab a hold of, you are simply wanting some hope.  That is fair, we all do when we start on this journey.  We search into the depths of every orifice as the journey begins to unfold and we struggle to regain our grounding as life slowly begins to move forward.  I have to warn you about the hope you seek because that word itself will take on various meanings and forms throughout this journey, and I feel it is only fair to warn you, that sometimes, hope ends up being a crapshoot.

Despite what you are considering the potential worst-case to be, the reality is, as you begin this journey you are unable to truly grasp what that even is.  The worst-case will morph along this journey.  You will find yourself thinking at various points that this is it, this is the worst-case, but I can assure you, it can always get worse, and at times, it actually will.  What I can also tell you is that there will always be some sort of lift to help you out of the worst-case cavern you will find yourself in.  Sometimes you will be stuck there for far longer than you anticipated, sometimes you won't even realize you were there until it is over, and at some point, when the real worst-case hits, you will find that you simply have to learn to just sit inside it for some time.  It is just a part of life, and as much as we want to pretend these types of situations don't exist, the reality is, they do.

Despite the potential worst-cases, I implore you to not don't spend your time fixating on what they might end up being.  There are so many amazing cases that you didn't know could even exist that you will also encounter.  What your family has just embarked on is a journey with an ever changing situation and ever-changing emotions, and it is a roller coaster to say the least.  As you all learn to tackle the ups the downs all you can really do is ride the waves with an open mind and open heart, and understand that your life has forever been changed, but you will find a way to survive, even if at times it is simply by taking a deep breath.

From, 
The bereaved mom of a child who was newly diagnosed 5 years ago.

April 16

Thursday, April 16, we meet again.  Who knew that 5 years from the day we first met I would be honoring you alone, missing the crucial piece that gave you whatever meaning it is you now have.  You are a day that I honestly don't think about for an entire year after you pass, but a day that I dread as you creep slowly towards me on the calendar.  I wonder if there will ever be a time I am at peace over what it is you actually represent.  I wonder if you will ever hold a bigger purpose than to just be another horrible, nagging reminder of all the pain that you brought with you that day in a small square office off of the 101 and 51st Avenue.  I wonder if I will ever forgive you for now being another day that I can no longer spin into something positive because allowing you into our lives ultimately allowed you to take her away.

April 16, you have always been a double-edged sword for me.  I have always tried honor and give recognition to what you have become, a date of vital significance, but one I wish didn't exist.  You will always be a date that I pay homage to the fact that you brought us an answer, albeit one we never wanted and one that at one point we didn't think could even exist.  You will always be a date that changed the course that our family was taking, and maybe one day I will realize it was for the best, it was something we could handle, and it was what was meant to be.  Somehow I don't think any of those sentiments will heal my heart, and they don't offer an ounce of cushion for the havoc that we all have endured over the past 5 years.

It has been 2 months and 13 days since she was taken away from me. 2 months and 13 days since I last got to feel her in my arms and since I last gave her a kiss.  It has been 2 months and 13 days since we became a physical family of 6; two boys, two living girls, and a daughter who died.  It was 2 months and 13 days ago that the fear that was always attached to the string of letters that was printed on the piece of paper no longer was fear but real and tangible.  But if I am honest with you, it was on our first encounter, 5 years ago that you essentially stole her from me.  In exchange for a measly piece of paper you took every dream I had for her, every dream I had for her and her siblings, every dream I had for our family, and every dream I stopped making that day.  If I loathe any day of the year, it is today, April 16, and while I am unsure if that is fair given you were just the messenger, I don't know if you can ever really be forgiven.

4 weeks

Today marks 4 weeks since I last held Sonzee, since I last gave her a kiss on her soft little cheek, since I last picked her up for the last time, since I last walked her outside the house for the last time, since I placed her on a stretcher, made sure she was buckled for the car ride and made sure she had two blankets because it was cold that Monday afternoon.  As soon as I made sure she was safe, I turned back around and walked quickly back into the house but didn't know what to do.  I couldn't look at anyone, I couldn't talk, I knew either would result in me breaking down, so I think I just walked around the kitchen putting things away and keeping my mind and myself busy. 

It was only 9 days prior that we had formally admitted Sonzee onto hospice, which was after 4 days of uncertainty between Sam and me.  It was 18 days after her very first symptom began, and 15 days after I realized what was really going on.  No matter how much time passes I think every moment leading up to her final breath will be replayed in my mind.  No matter how much I know there was nothing we could do for her, no matter that I honestly have no regrets over how we spent her last weeks, it is still really hard to accept there really was nothing we could do to change her outcome. Sam and I both have spoken to numerous medical professionals and we know that she was not sick with an infection.  We know there were no antibiotics to give.  We know there was no way to stop or reverse that her organs were shutting down just because. 

Now 4 weeks later,  while I accept that her body was exhausted and that it was her time, and she put up one hell of a battle for 4 years 11 months and 22 days, I still wonder what if we could have somehow known or prevented the domino effect that occurred in her body, as each organ started to malfunction?  What if we had been more or less aggressive with seizure control?  What if we had chosen different formulas or diets over her life.  What if we had made one small or seemingly insignificant decision that would have changed the outcome?  I know the what-if game does no good to play. I do know we did make the best choices for her based on the information we were presented with each and every time.  But it will always come back to what if something could have been done to prevent her CDKL5 mutation in the first place, what if we never even knew such a game of life even existed. What if we had from the start had a perfectly healthy, smiley, and happy Sonzee....what if?

Dear Sonzee: An update

Dear Sonzee,

I should be working on something for your celebration that is in two weeks, but I just can't right now, and I am so sorry about that.  I worked on it here and there today, and honestly was much more productive with it than I have been, but I cannot bring myself to sift through more pictures right now. Instead, I put a song on repeat that I have always known would be fitting for when a day like this was bound to happen, relocated the box of tissues to within hands reach, and decided to write you a letter.

I am not sure if you received Laeya's invitation to her school event Thursday (today), she asked me if I thought you would be able to come.  I told her if you could, you would, but I wasn't sure what else you had on your schedule.  If you have a free moment between 2:55 and 3:45 AZ time, maybe you could drop by and knock her poster over or have something fall around her to let her know you popped in.

I took Auntie A with me to see you yesterday.  She did really well considering the cemetery isn't exactly her most favorite place to be, and honestly, before it became your new home it was the last place on this planet anyone would ever expect to find me.  Yet it is the only place on this earth where my heart doesn't actually hurt and I feel like I can fully breathe.  I know for a tiny fraction of my day I can find some peace and I hate when I have to leave.

Your little name plaque is becoming completely covered by all types of rocks.  I ordered a red wire basket to hold some of them so it doesn't get too cluttery over the next few months and hopefully it will be here before I go to see you later on today, if not I will bring it tomorrow.  I cannot wait for 8 months from now when you have all of the adornments up.  You will have the most perfect headstone, a yahrzeit candle area, and a beautiful bench. 

During bedtime last night Meena told aba that you were the one picking out the book to be read.  Aba chose the book he thought you had chosen, but Meena immediately corrected him and told him that was not what you chose.  She wasn't happy after that book was done though because she wanted to read her choice book since you chose the first book and aba said "one book".  Meena keeps saying you are around the house, you know we are always hesitant to trust that one, but I am starting to believe her a little bit...or maybe I just really want to.

Noam has started to ask where you are.  I tell him, "not here", and he asks "home?", and I tell him "no, she is not home", he then asks "Paige?".  I think he finally figured out you two are not the same, but it is so hard for him to understand you aren't coming home and nurse Paige isn't coming over.  To be honest, there have been a few mornings where I have to remind myself nurse Paige won't be opening the garage either. 

Tzviki scored at his tournament this past weekend.  The rink wasn't so cold, but I wore your beanie in your honor the first day anyway.  I wore the sequin red boots and received so many comments.  You probably would have loved the rink because the wheelchair seating was at the top and you would have had a great view, the wall in front was all glass too.  I didn't miss you kicking off your boots though, that would have been a pain because I know you would have sent them over the glass wall multiple times since it was only half height.

Aba and I are continuing to figure out life without you, but we are starting to realize there really is nothing to figure out.  We both feel lost, we both feel like we are missing something, and that isn't ever going to change.  No amount of time is going to fix your absence.  No amount of time is going to make this better.  It will be just how your original diagnosis of CDKL5 was for us.  Always there, never changing, something that we will just have to learn to live with no matter how difficult and painful it continues to be.

We really hope you are having a fantastic time wherever you are, and I hope you aren't being too carefree with your freedom.  Be safe and know you are extremely loved and missed.

With love always,
Ema

Surviving

It's been 2 weeks and 21.5 hours, or 14 days and 21.5 hours, or simply 358 hours.  I read somewhere that life will now be divided into before and after segments, that does seem to be holding true.  I supposedly have gained all of this time not having to care for her physically anymore, but yet I cannot seem to find time to do anything.  What did I do before?  I remember thinking about that after each time we had another child, it never really did make sense how the number of hours in a day didn't change, yet there was more to do and somehow there was room to at least half attempt a good job at completing all the responsibilities.  So here I am almost 15 days later, not working, not taking care of Sonzee and all of her needs, and not having any time (or really desire) to get anything done.

I can't seem to grasp how the world is moving on at a regular pace, yet I feel like I am living in slow motion.  I can't seem to grasp that she isn't here, yet there are constant reminders of her absence.  Sometimes it almost feels like she was just a figment of my imagination, was she really even here?  How was it for almost 5 years?  Why did those 5 years seem regularly paced with the speed of life in general, but now time without her from the outside of my bubble feels like it is speeding by, but from where I stand I am the turtle just considering starting the race?

One of the books I am reading has a subtitle about "surviving the loss of a child".  The word surviving jumped out at me this morning as it is sitting next to me on the desk.  That is essentially what I feel like I am doing.  I am just surviving.  There is nothing fancier than that going on over here.  I am merely existing.  I go through the motions of life and smack the smile on my face but to slightly alter my own quote from our fundraising video in 2017, it is extremely devastating to have had an almost 5-year-old little girl and see all of these milestones that she won't be able to do, and we are supposed to just pick back up and carry on with life.

To Be Continued...

I started making Shutterfly albums in 2008 after Sam's and my honeymoon.  It was the first company I was told of at the time that allowed me to not have to go to the store to get physical prints of the pictures in order to make a scrapbook.  Since I love to document as many of life's events as possible, having a way to create an album from the comfort of my home was fantastic.  After our honeymoon, I continued to use Shutterfly for all of my picture needs.  My intention has been to document as much of our children's lives as possible so when they grow up and move out, they will have these books to remind them of their childhood.  Since each album to me is just a snapshot of a moment in our life waiting for the next album to pick up where the previous one left off, on the back cover of every album I place a picture with the words, "To Be Continued".

While the series of Sonzee's books will have far fewer volumes filled with pictures of her life here with us, there is no way that her story has been spoken for the last time.  There is no way that her impact here on this world in a physical manner has come to an end.  I know that her physical presence is no longer needed here with us for her purpose to be known, but I know that in her short time, she merely planted a seed for whatever her purpose was to be cultivated without her having to struggle alongside. 

As it was pointed out during her funeral in a quote by Terry Pratchet,  "No one is actually dead until the ripples they cause die away", and I realize I do not even know the depths to which Sonya's Story has sent ripples.  For a little girl who never spoke a word she has shared quite an amazing story.  She has positively impacted and inspired so many, that my level of pride and joy has jumped off the charts.  I really hope wherever she is she is able to see how many people love her, miss her, and are forever changed because of her, and because I know she has more to say, just as every one of my albums ends, this one will also include, "To Be Continued".

Lifetime

As parents, we do our best to soak in every moment we have with our children and make sure to give them as many experiences that we can possibly offer.  Mainly because they are only little once and because the years fly by so quickly, but deep down there is the fact that tomorrow isn't guaranteed for anyone. We provide them with social opportunities, enroll them in extracurricular activities, take them on trips, and try to provide the most caring and loving environment to foster a lifetime of happiness.  No matter the type of child being parented, the situations may need to be adapted, but any loving parent will do their utmost to fill those first 18 or so years of their child's life with what they feel is the best for them.  In return, the payoff is watching your child grow older while developing their own sense of self and eventually one day moving on to do the very same with a family of their own.

Unfortunately, as Sam and I as well as too many other parents to list have learned, sometimes the typical way of life just isn't what is meant for everyone.  The typical parenting experience is derailed and you learn to adjust the opportunities that are provided, but always, the opportunities are provided, always the love is given, and always you watch your child develop their own sense of self in a different sort of way.  It isn't always clearly communicated, it takes a lot of guesswork and supports, but, your child is still the person he or she is as an individual, but one who just requires some level of assistance.  Regardless, you spend your moments with them the same you would as any parent, loving on them, kissing them, talking to them, playing with them...simply, parenting them.

But then there are special situations.  The ones that are unfathomable, the ones that aren't at all able to be processed because they simply don't make sense.  They are the situations that result in an ending that defies the order of operations.  Sometimes, if you are lucky you get a warning, and you get to prepare, whatever that really means.  You quickly make sure to squeeze years of moments into the shortest time possible.  You spend all your time thinking of every memory you might regret not having because you know you aren't ever going to have the chance again to get to them and you find a way of making it actually happen.  You spend all of your time loving on them, hugging them, and kissing them, but all the while wondering, how on earth you are going to get enough to last the rest of your lifetime.

"Strength"

I dreamed of becoming a mom for as long as I can remember, and when it first happened in 2010 it was the start of something that surpassed any dreams I ever had.  I have theoretically become a mom 5 different times.  Each of my children is as individual as can be making my mommying experience equally as distinct.  From being a competitive dance mom to a hockey mom to a free spirited child mom to a special needs mom, and a slew of other descriptive titled moms in between.  I am and will always be proud of all of the different mom titles I wear, however, the one no one ever thinks they will ever earn, the one no one ever wants and yet the one that I am soon to be awarded is that of the grief-stricken bereaved mom. 

It was suggested to us that we begin to make plans at this point so that any decisions that can be, will be made in advance.  For everyone who has said "you are so strong", or "you are incredible", I hand you back those words, medals, and sashes.  Yesterday, I was not equipped with the appropriate amount of strength to get me to go "cemetery hopping".  Instead, it was my amazing sister who graciously volunteered without even being asked and Sam.  I gave my "requests" and they did their best to make sure they will come to fruition.  I say requests like these things have been sitting in my mind for a lengthy amount of time, but the truth is I didn't even know I even had them more than 24 hours ago. 

Watching my child suffer over the last 4 years 11 months and 16 days of her life has drained so much of me mentally and physically, I think my strength quota has been reached.  The last 4 years 11 months and 16 days apparently isn't going to earn me much reprieve in how the remainder of this story is going to be written.  There is not going to be any first day of kindergarten picture or any sassy turning away when she wants nothing to do with us.  There is not going to be any more "hooray for Sonzee's" or cheering over some almost met inchstone.  While I am extremely grateful we are getting to segway into this new chapter on our little bear's own terms when she is ready, everything our family has endured with her isn't earning us an alternative ending, so whatever strength might remain after all of this is said and done, I am going to need to write my own.

Just wish....

Sam's first car when we met was a 2001 Honda Accord. It was 2 door, greyish-silver, and had an Israeli flag bumper sticker on the back right side.   He was so in love with this car, although I had a different opinion.  The car had so many different issues, the timing belts needed to be changed, the spark plug wasn't doing its thing and then the radiator started to overheat.  He would try these little cheap fixes and I would tell him he was wasting his time because he was eventually going to need to get rid of it.  After we got engaged and we agreed to move to Arizona, he mentioned he was going to drive that little car 1300+ miles across the country.  I laughed so hard while I told him there was no way that his favorite car was going to make the journey.  He disagreed.

By Spring of 2008, he finally decided he should take the car to the nearest dealership, which was about 40 minutes away in Valdosta Georgia.  So together we got into the car and started to drive.  About halfway into the trip the car began to smoke.  We pulled over and the radiator (again) needed to cool off.  He was so used to "fixing" the radiator, so it came as second nature.  While I sat on the side of the road he got a ride from a nice older lady to the nearest gas station to get some water.  When he returned, he poured the water on the radiator, it cooled off and we continued on our way.  It was finally time, Sam knew it was time, he still would have rather held onto the car, but he did admit it was time, and so he let it go.

I couldn't sleep last night, and at 3am I laid starring at the ceiling when this story popped into the forefront of my mind.  So many similarities from this experience, however, instead of a car, it is our little Sonzee bear.  Her entire life we have spent trying to put putty in all the water holes that have presented themselves, albeit never fully successfully.  Eventually, you realize and accept there really is nothing that you can do to try and fix the problems.  No amount of interventions can compete with the fact that her body is telling us it is tired.  It is not in the, I need to lay down and take a nap type of presentation of tired.   But in the "I cannot regulate any of my bodily systems appropriately for things to function" manner.  It is beyond devastating and really impossible to have to accept that there really is nothing left for us to do, we really have done everything for her.  So, what is left for us to do, is to respect what her body is telling us, respect what she is communicating to us and respect this process as horribly painful as that really is.  So to summarize the only way I know how, I give honor to one of the famous quotes from Steel Magnolias, "We should handle it the best way we know how and get on with it. That's what my mind says, I just wish somebody would explain it to my heart."

Crumbs

When my oldest was 16 months old I enrolled her in a gymnastics class in north Phoenix.  At the time I was 8ish months pregnant with her brother.  We began going on dates after her gymnastics class to a local coffee shop.  She got her cookie and chocolate milk and I, of course, some form of coffee.  When her brother was born he tagged along, first in a carrier, and soon as a member of our special time.  Eventually, my older two began preschool and my dates became with our 3rd and Sonzee in tow in the carrier or stroller.  3 years ago when our middle daughter began school, the dates stopped.  Sonzee wasn’t enrolled in gymnastics and while I could have taken her to a coffee place and drank coffee with her in her stroller, it just wouldn’t have been the same.

When our youngest became enrolled in gymnastics this past fall I was looking forward to having our dates.  It had been a while since I had a date with a toddler and I was so ready to start them back up.  Fast forward to this morning.  We have about an hour and 10 minutes between the end of gymnastics and getting sonzee from school, and boss baby is finally at the perfect age to have his attention focus on a cookie and chocolate milk for more than 5 minutes in a chair, so off we went on our date.  I snapped pictures, he picked out his chair, I was so excited to be sitting there with him, and he appeared to feel the same excitement.  Then I saw the crumbs.  Little tiny toddler crumbs on the table, on the chair, on the floor, just staring at me so I grabbed a napkin to wipe them up and then this emotional tidal wave washed over me.  Crumbs...the same ones I used to apologize for when we went to this same coffee location with my older kiddos and they were all over the place.  The same crumbs the employees used to smile off at me and say “don’t worry about it”, while they grabbed a broom and swept them up.  The crumbs that toddlers make but ones that Sonzee has never gotten to make.  Cue to the tears.

Now with glossy tear-filled eyes, staring at my son trying to not let the tears fall as I was wiping up crumbs in a coffee shop while trying to get over the emotions quick enough to enjoy the moment of actually being on a date.  So many more of these moments keep happening.  It's always dual-edged, the same thing I am not taking for granted fills me with dread because Sonzee couldn't or cannot do it.  The pain of it continues to get worse for some reason the older she gets.  Sure she can unhook her feeding tube and her stomach drainage and make a wet mess, but the reality is, she cannot and won't ever be able to make any crumbs.

The Same

We are a month and 5 days away from Sonzee turning 5.  I really am trying my best to focus on the sheer fact that she will be turning five, that she is here to celebrate such a milestone; but the human side of me says that still is not enough.  It is honestly just not enough to be celebrating a milestone that I am not even sure she realizes is occurring.  The doubt in that fact alone is enough to bring tears into my eyes.  Watching her seize and sleep her days away otherwise is enough to release the tears straight down my face.  It just isn't fair.

We are a month and 5 days away from our youngest being officially more than 2.5 years younger chronologically from Sonzee, but developmentally 2 years more advanced than she will ever be, with an ever-growing gap as each day passes.  It hurts. It hurts in such an incredibly unexpected way.  Watching him as he gains every little skill.  As he speaks more words each day.   With each and every smile he flashes my way.  With every gentle pat and snuggle he gives her and concern he extends toward his bigger sister.  It just isn't how the roles are supposed to be.

I sometimes wonder if I will ever really wrap my head around the fact that this is the life she is destined to live.  I wonder if I will ever truly be able to accept that this is how it is supposed to be.  I wonder if I will one day truly believe she really is who she is and it was a purposeful genetic mistake, or rather not even really a mistake.  I wonder if I will ever be able to give up on what I still honestly secretly wish she could achieve, and the dreams of normalcy I wish her to have.  I wonder if there is ever going to be a way that I can look at her siblings and not have a cloud dampen it because Sonzee isn't or won't be able to do xyz.  The minutes and hours are ticking by.  The days are going by faster than I can keep up.  The years are speeding by at a rate I feel I am not even able to process, but Sonzee, she always stays the same. 

Dec 26

It seems like, with all momentous occasions, meaningful dates in the land of medically complex life are just par for the course. The dates and sometimes even specific minutes or hours are etched into your mind as if they are celebrations, and maybe sometimes they even are.  I was signing a paper last night when  I noticed the date was 12/26/19.  It was at the same time I remembered a year ago Sonzee was discharged from her 22 days stay hospitalization on this very date.  While it was not her longest stay ever in her life, it thankfully has been the longest stay for her over the past year.  I certainly didn't forget she spent the majority of December 2018 as a resident of the 8th floor at PCH; meeting Jason Mraz, switching into 3 different rooms and watching the candlelight walk to ignite hope looking through her hospital room window.

Just a year before on December 26, 2017, Sonzee could be found swinging in the infant swing with pillow prop support at the park near our house.  Loving the breeze in her face she smiled multiple times while she was being pushed. 

A year before that on December 26, 2016, we were found in Florida at Sonzee's grandparents opening Chanukah presents while Sonzee worked on tummy time and spent some time relaxing in the hot tub.

During her very first December 26 in 2015, we were in California at Big Bear sledding in the snow.  She actually didn't mind being outdoors and I remember her having a fun time sledding.  During our drive, she gave us one of her biggest smiles I think she has to date ever had. 

On her 5th December 26 in 2019, while she wasn't the happiest bear, she did manage to get some pool time in, while on the last day of our staycation at the Great Wolf Lodge in Scottsdale.  She also was able to participate in her typical routine activities, going on a walk, taking a nice nap,  having a good bath, going in the car, and of course, seizing.  She finished off her day rolling around on a mat and then going to sleep.  It is amazing to me how all five of her December 26ths I remember as if they were all yesterday.  I know better to even attempt to imagine what her sixth one could look like, because a lot can happen in a year.

Karaoke

Sonzee's older siblings always love to put on shows, so when it came time for me to complete their wish lists for Chanuka Angels gifts it was a no brainer to include a karaoke machine and karaoke microphone.  The box of the karaoke machine came unwrapped and our middle daughter knew it was for her because it was in her pile, so she has been eagerly anticipating opening the actual box.  Our son who really didn't know everything that I requested for him was eyeing a specifically shaped box in anticipation of it being a microphone, thankfully it worked out for the best when he opened his gifts.  Sonzee did get a really awesome spinning light wand from her aunt that would be totally awesome to use during their shows, but as usual, despite our best efforts, she was unphased and indifferent to her gifts.

I usually keep Sonzee's gifts limited to things she actually needs, such as clothing, backpacks, pacifiers, or pacifier clips.  She doesn't show any reaction towards anything she is given, and honestly, she doesn't seem to even be aware that she on the receiving end of a gift.  It is probably more a protective mechanism for myself that I limit the types of gifts she receives because there is no excitement, no reaction, really, there is no awareness at all.  From a parent's perspective, it is really sad because the best part of having your child open a gift is their initial reaction.  Due to the safeguards I have in place and the fact that we are blessed with four other kiddos, I didn't find it difficult to handle the gift opening portion last night on the first night of Chanukah but then we started family karaoke and I have yet to find the solution to the unplanned emotional situations that inevitably occur.

The karaoke machine was hooked up to the TV, the microphones were connected, the lyrics were on the screen, red, blue, green, and white disco lights were spinning in a darkened room, and the music was blasting.  We might as well have been called club Zaila, it was the best.  I started to record the kids singing at the top of their lungs and then panned across the room until I got to Sonzee who was just laying in her ppod not participating.  A mixture of exhausted from her recent seizure, the multiple other ones she had throughout the day, and just CDKL5 in general.  She didn't care for the disco lights going, she wouldn't even look at the awesome spinning wand her aunt gave her.  She was just blah.  I felt the tears enter into my eyes, but I immediately pushed them away.  I didn't feel like letting CDKL5 steal another moment.  It was much more fun to focus on my older three dancing while they sang at the top of their lungs, so I flipped my emotional switch to off and pushed the pain away.  Always on the tight rope of acceptance and hope of something.  While I fully accept who she is as a person, I still hold onto some hope that maybe tonight she will want to look at her amazing spinning light-up princess wand when we turn back into club Zaila.   

The plan

I have always been a planner.  I surprise myself sometimes with my ability to continue planning, even though so many times over the last close to 5 years my planning has not yielded the same outcomes as I had anticipated.  I have learned planning is just one component and not even necessarily the most important part, it is the execution of those plans that almost weigh more than all of the preparation, and sometimes even though the plan is in plain sight and you can clearly see the words written out in front of you, your specific desire for the situation to unfold in the manner you thought, isn't always in the cards.

April 16, 2015, was the day that reality shifted, all of our parenting plans as we knew them, changed.  It was the day that I learned you could breathe but your lungs might not fill up with air.  It was the day that I learned that rare can happen to anyone and when it does, it doesn't feel very rare at all.  It was a day that time simultaneously stood still and flew by all at once.  It was the day despite being married 6.5 years already that I would first see Sam cry not because of a birth of one of our children, but because his world was crumbling around him.  There was nothing we could do but once we collected ourselves we made a new plan.

Had you asked me 4.5 years ago, I would have said the first death amongst my non-special needs framily would have been Sonzee.  The plan was Sam and I sitting shiva first because she had passed.  It was supposed to be our friends navigating how shiva worked and things to do.  I never entertained that one of my closest friends would have had to suffer the loss of her mother first, and I certainly never imagined any of Sonzee's grandparents passing first.  Logically I know that is how it is supposed to be, but that wasn't part of the current plan.  It's true you just never know what can happen, and for the last week and a half, I have been wondering why Sam's dad passed.  His soul's mission had clearly been accomplished and his purpose on earth fulfilled, yet none of us here will be privy to the real answer.  What peace I have gathered in my mind over it all is that someone needs to be waiting for Sonzee when it's her turn, and I know when her turn comes, he will be waiting with a cigarette in hand, open arms, on a bent knee and a huge smile on his face...at least that is the plan.

368 Days

On December 5, 2018, Sonzee had a checkup with her ophthalmologist at 7:45am and then we made a mad dash to admitting at PCH in order to make our check-in time for her port placement.  The surgery went quickly and thankfully uneventfully, and then later on that night she began her 2nd journey with TPN (an acronym that in short means she is getting food via a central line directly into her bloodstream).  We didn't know what to expect, we didn't know where the journey would lead.  A year ago she weighed 8lbs less and was about 5inches shorter, her GI system was exhausted, and she was in so much pain it was unbearable.

368 days have passed and it is hard to consider her without her extra tubing and hardware, yet eventually, we will probably have to do just that.  Every month the suggestion is made and Sam and I take a deep breath, swallow, and say "no".  If there is one thing I have gained on Sonzee's journey it is confidence in truly knowing that I don't need to humor anyone anymore to prove I know her best.  I know what taking her off of TPN will look like.  I know it in such a way that I could place dates next to each step forward and ultimately backward she will take.  I know that for 4-6 days her body won't say a word.  I know that after a week she will start to display some discomfort.  I know that we will never be able to maintain her required nutrition.  I know that she won't gain any weight, and she will eventually lose all the weight she put on over this past year.  I know that in the long run, it just won't work and we will be back to debating putting her back on it for the 3rd time.

Yet, I sometimes wonder did we get ourselves in too deep when we initially made this decision.  I know we did it with her best interest at heart, we did this for her, but what is supposed to happen next?  Is keeping her on worth the continuous risk of a central line infection that could cause her to be septic?  Is taking her off worth the risk of her losing weight and ultimately ending up in excruciating pain 24/7?  Does keeping her on or taking off even matter in the long run when she is now anemic, and still dehydrated despite all our efforts?  If only we could know what lay ahead.  If only we knew that keeping her on it or taking her off was the right answer.  Yet, we don't have the answers and we won't know what is meant to be until it happens.  So on Tuesday, we will go for our monthly appointment only to be faced with the same question and ultimately we will wait another month because that seems to be the only decision we are able to make.

1000 words

They say a picture is worth a thousand words.  That was the very first thought that popped into my mind when I received the email from Shutterfly that Sonya's school pictures were ready to be viewed.  I had spent the last week in anticipation of seeing hers since her older siblings all received theirs already.  I quickly opened the email and then paused.  Or maybe it wasn't so much a pause as I got smacked so hard in the face I had to pull myself together.  Maybe it hit so hard because things are completely all over the place in our house this week?  Maybe it hit so hard because I am a firm believer in never doing retakes because whatever occurs during the picture is the reality of life in that specific moment?  Maybe it hit so hard because I initially had forgotten about what actually occurred on picture day in the first place and after a quick moment I was jarred back into reality.

I debated between this two-piece outfit and its fraternal twin whose shirt was a dark shade of greenish blue.  I had been voting on the darker shirt but was vetoed by others who felt the mustardy yellow was brighter and better suited for picture day.  I obliged.  I picked out 2 glitter ponytail bows and let nurse Paige do her thing (clearly she is always on point as evidenced in the image below). The morning of picture day I told Sonzee numerous times "your pictures are in the morning, please wait and seize after".  When I dropped her at school a little after 9am I gave her a kiss and reminded her again to just hold off until after her pictures, and then got back into the car.  Within 8 minutes I received a text that said "Ugh. For real. Pics are at 1030".  Nurse Paige mentioned they were going to try and fit her in at a different time after she woke up, and I replied: "ok, if not it's the life of Sonze".  They waited, put on a horse and pony show-pompoms and all and nurse Paige said: "she is just sort of blah". 

A month later and I forgot.  I forgot how much I dislike CDKL5 and I forgot how her mutation causes issues in every. single. domain.  I forgot that I don't exaggerate when I say "she seizes all the time".  I forgot that no matter what medication we put her on it won't take away the negative effects her frameshift mutation causes.  I forgot that she gets absolutely no say in how her body treats her and how much she has to always endure.  I forgot that even though a picture says 1000 words, Sonzee cannot say one and we won't ever know what she must have felt like after she endured one of the literally (conservatively averaged) 5,000th seizure she endured before being placed in this chair.

Suffering

I haven't been able to get the word suffering out of my head recently.  It just follows me around like a real-life version of Jiminy Cricket, constantly there, unable to shake, just lingering.  Every time I watch her seize, when I see her confined to a chair, when she is laying in the same spot on the floor, as I lift her from point A to point B, essentially all. day. long.  The mental follow up thoughts are why, and for how much longer?  It really is such a delicate place to be, unable to comprehend life without her in it, and wondering when G-d will end-all of her pain and suffering so she can actually be able to truly rest. 

I often wonder what she must be thinking and experiencing herself.  What does life look like through her eyes?  We don't get the opportunity to know her thoughts or feelings.  We assume the majority of what she is communicating.  We make unthinkable decisions on her behalf.  Her body does the same thing on repeat daily, with only stopping if she is sick.  Days full of seizures and the aftermath that they bring.  Medications that I am sure cause side effects she doesn’t even complain over because it is her norm. She is forced to experience constant seizures that are unable to be controlled and unwilling to give her an opportunity to truly participate in life. 

It breaks my heart to watch her suffer like she does.  It breaks my heart that we have failed to bring her any type of relief no matter how much we have done or how much we have tried.  It breaks my heart that there is not a single thing we can do to stop this vicious cycle of attempting a remedy and failing miserably or sometimes less miserably.  It doesn’t help and I don't want to be told: "she doesn't know any different" because that does not make it okay.  It does not make it justifiable.  It does not make me feel even an ounce better. And most importantly, it does not reduce any of her suffering.

Still...Always...Forever?

A picture popped up on my news feed the other day.  A little girl...also diagnosed with a CDKL5 mutation...who was sitting.  I wish I could understand why despite the fact that I have accepted it isn't part of Sonzee's fate, it still tugs at my heart whenever I see a similar type of picture.  I know I shouldn't compare, I know no CDKL5 mutation is good, I know it all sucks.  However, it immediately makes me wonder, "why couldn't that be in the cards for Sonzee?", "why does her mutation not allow her to do that?", "Why did no amount of money or intensive therapy buy her that ability???"

I understand this is part of this journey.  There will always be struggles for Sonzee in essentially every life category, and there will always be struggles for me on the emotional/psychological and in some cases even physical categories.  It is one of those times it is safe to say the word always.  It isn't an exaggeration, it is just a fact.  Situations that have already occurred, ones that have and will continue to reoccur, and the ones we have yet to encounter, there will always be something, thanks to CDKL5 Deficiency Disorder (CDD).

Despite knowing that these situations and feelings are going to continue to pop up it doesn't help. I try not to get too far ahead of myself thinking of things she isn't or won't be able to do as the years continue to go by, but the facts are always there.  Usually right in front of me in such a blunt way that it is hard to ignore, like having to change her diaper at almost 5, or having to carry her like a newborn at almost 5, or having to feed her through various tubes.  I try to wake up each day and tackle it anew, without anything hanging over me, but the fact that this is going to be forever...it makes each little thing that much more difficult.