Stacking blocks

When my oldest was a toddler she had these rubber squeaking building blocks that she would play with.  She would take the blocks and build a tower high as she could before it would either tumble down to the floor or she got overly excited and decided kicking it down would be more fun.  Each time they fell she would squeal with excitement and then start the process all over again.  I can still envision her huge baby toothed smile while she was jumping up and down.  This morning her smiling face popped into my mind as I was thinking about how much this relates to Sonzee's milestones, more specifically her GI accomplishments, the main difference every time the tower falls there is no smiling face there to celebrate.

We spent years building tower after tower trying to find a solution to Sonzee's GI difficulties and pain.  Every time the reprieve would be short-lived and we were back to situating our building blocks into the perfect configuration to maybe reach some kind of success.  Finally, in December, after close to 3 years of being made aware of her struggles, it felt like our final tower was built.  Since then there have been a few occasions where a couple of blocks have fallen.  Every block that fell was replaced within a few days, maybe a week tops, but slowly the tower would resume its height and we would breathe in a sigh of relief.  It had been close to 6 months since the last time a few blocks fell from the top of the tower, so maybe my comfort in the situation was unfounded based on history, but since they say we are supposed to have hope,  we did. 

Over the past month, it seems like we have been traveling in a falling block zone.  It started with a single block falling, turned into 2-3, and now there is no proof there ever was a tower.  The base block is nowhere to be found, it too has lost its grounding and has completely disappeared.  We are back at square one, really below square one, everything has been erased, it is as if the tower was never built in the first place.  I feel defeated, I am angry and so incredibly sad.  I am in the place of wondering if this tower can actually be rebuilt or if our new tower will even include all the blocks we used in the first tower.  Everything is lost.  Everything is gone.  Everything has been erased, yet a tower needs to be rebuilt, but there is definitely no eager toddler awaiting the thrill of stacking the blocks waiting for them to eventually fall down.

Reset Button

The big kids are off at camp, little brother is on a walk with his babysitter, Sonzee is in her P Pod, Sam is in Phoenix, and I just finished vacuuming and doing a couple of loads of laundry.  The last 24 hours have been a complete whirlwind of experiences and emotions, scratch that, the last 5 days.  I feel like that is synonymous with life in general.  We spend all this time anticipating and preparing for a wedding, a family celebration, a big event in general and then when it happens some things go as planned, others don't, but after it is over you just want to plop onto a fluffy piece of furniture, let out an exasperated sigh and reflect on what just occurred.

Since 2016 when Sonzee received her first intestinal feeding tube we always had steps in place for what to do if the tube came out.  The first summer in NY with the NJ tube was so scary because it had just been placed, she was fresh off a 28 day hospitalization that had included TPN and left her stomach unable to be used, but at that time we were not even fully aware of the extent of her GI issues.  It was all new to us and we had limited experience with intestinal feeds in general.  We thankfully never needed the tube replaced during that summer, but we had our backup plan in place; to go to the hospital we initially attempted to go to this past Friday.  Every summer since, that was the plan on record, and every year we skirted by with no tube issues.  Thankfully all of the other summer hiccups had been easily handled at the local regional hospital or the urgent care clinic.  I suppose "luck" eventually runs out, and maybe that was why my gut was nagging at me as summer 2019 approached. 

Until yesterday I looked at the summer as a sort of escape, a place for us to go as a family and reset so we could take on the next school year and 11 months in general until we could again escape.  What is something that I have known since the beginning of life with Sonzee but for some reason always need some sort of harsh reminder is that there is no escape.  There is no putting a medically complex life on hold.  The challenges are always there, they will always be there, it doesn't matter that you planned to leave them back home, miles away, as if they didn't exist.  The only difference is that you have an extremely long yet amazingly beautiful view as you drive to attempt to sort through your emotions, to reflect on everything that is occurring, and to realize there is no way to plan a reset button.

There's always one

There is always that one picture that does me in.  Every. Single. Summer.  The one that I know is inevitably going to occur but I have forgotten over the year is going to be taken so it will always continue to catch me by surprise.  It is the one that makes me smile for a split second before my brain registers what I am looking at and what is missing, well actually more like who.  This is then followed by a dialogue that occurs silently within my mind about how nothing/no one is really missing and that it is just the (sad) reality of life.  Yet, my internal negotiation doesn't change the fact that the damn picture has still managed to pierce my heart.

I HATE after 4 years on this journey that these types of moments still occur.  More often than not I find myself in a state of numbness that only periodically allows this sort of real life pain awareness to seep inside.  Call it whatever you want, it is one hell of an amazing protective device, and personally, I prefer the numbness over the stabbing pain my heart feels when one of these moments creeps in, so I am glad they are only occasional.  What I dislike most is that it almost seems like my mind takes the picture completely out of context.  Where I should be looking at my oldest daughter, her best summer friend, and her little sister, standing on scooters posing for an adorable picture, my mind does not see Sonzee standing next to (who should be) her summer best friend.

I HATE these types of reminders of how old Sonzee is.  I HATE these types of reminders of what Sonzee is unable to do, of who she is unable to be, of how much of life she is missing out on.  I HATE that this picture that I should be printing and placing in a frame for my oldest daughter because it is such a great picture, takes the breath out of me every time I look at it.  I HATE that these types of reminders pop up randomly without notice and seem impossible to prevent.  I HATE that not only was she missing from the picture, but she was sitting at home miserable, unable to be outside.  I really do my best to not focus on what Sonzee isn't able to do, or doesn't do, or can't do, but sometimes life seems to get in the way.

Good Luck

"Did you have testing done while you were pregnant?", "Did you know before?", "Was everything "fine during your pregnancy?"  95-100% of the time after someone meets Sonzee and we begin a conversation those or similar questions and/or comments are brought up.  Grandparents, soon to be parents, friends of pregnant mothers, young adults, inquisitive people, you name it, everyone wants to know.  My guess is people want to be told we knew and yes it can be prevented, but we must have made some choice to keep her. But the hard reality is, "Yes we did have testing, no we didn't know beforehand, yes, everything was fine while I was pregnant, and good luck."

"But if you had an amnio then you would have found out!"  "Good luck", I say "because no we wouldn't have, not with her type of mutation".  For those who respond that they had microarrays completed in utero for their unborn child, I say, "Good luck, Sonzee's microarray is normal".  "Good luck" to those who are under the misconception that genetic means Sam or I passed down the mutation because "yes we did have testing and no neither of us have a mutation on our CDKL5 gene, Sonzee's mutation is de novo-it's hers, it's random, and she's the only one in the world currently with it, good luck."

It is hard to comprehend the complexities of genetics.  It is hard to fathom that no matter how much prenatal preparation occurs, no one is exempt.  To those who don't think about the possibility of rare, "good luck, we never did either".  The truth is, CDKL5 and the approximately 7,000 other RARE genetic disorders that are currently known are rare, but not one person is immune and not one person is guaranteed that rare won't happen to their child, so I say, "good luck".

The middle

I went outside to walk my oldest daughter to her friends for a sleepover.  The weather was absolutely perfect.  The sun had disappeared from view, but the sky was still blue with a sliver of the moon visible and some greyish white clouds crossing by.  There was a slight breeze and the air smelled like the real version of the mountain breeze fragrances that you buy to attempt to replicate the real thing.  My first thought was that I was going to come back, grab my computer and sit outside, so after a successful drop-off, with my coffee in hand, I did just that.

I set up my chair in the same spot I had placed Sonzee's 4 hours earlier.  The same place that when I walked out of the house one-day last week I stumbled in my tracks as I watched two deer eat from the grass and couldn't believe how close they actually let me get to them.  If I turn my head to the right, beyond a not so tall tree and empty parking spaces there is a hill defined by large rocks at the bottom and topped with tall green trees that stretch upwards of at least 40 feet.  To the left is the grassy field which ends in green brush, more tall green trees, and power lines that mark the descent down another hill.  It's a quiet spot in terms of little car traffic but filled with various birds chirping.  It's the only place I don't actually loathe the sounds of their incessant conversations.

As I sat between the steep incline of the hill to my right and the abrupt descent of a hill to my right I reflected on how similar this specific location represents where we are on Sonzee's journey.  Cautiously we move on our semi angled flat surface carefully avoiding slipping down the hill on the left and avoiding the struggle of climbing the hill to the right.  We hope and pray to stay firmly in this spot.  The spot where the smells are crisp and clear, where the sounds are happy and wanted, where the unexpected albeit positive things come our way, and where the view from both the potential up and downhill situations look clear and beautiful yet equally uninviting.  It is the spot I don't ever want to leave,  the one I know we won't be able to stay in forever, but the one I always look forward to coming back to after the journey takes up and or down the hills.

Split second

Sometimes I feel like Sam and I part of grand jury spending hours deliberating making a life or death decision when it comes to Sonzee's care.  Partly because that is literally what we are doing, minus the whole being paid to sit on a jury component, and partly because we spend so long making sure we weigh the pros and cons of every possible solution to ensure we are making the best possible choice when it comes to Sonzee's life.  Then approximately every 2 months, give or take some time, it seems one split second of time rattles all the confidence we had placed on whatever decision it was we had made.  I wish I knew why my initial reaction is to second guess the decision vs just acknowledging this is simply the beast of CDKL5, but alas that is what occurs.

I wonder if it's because of the fear that occurs wondering if the solution we were hoping would last has in fact failed.  Or maybe it just simply feeling vulnerable because our choice was not correct. (I do know there isn't an actual manual to follow in regards to caring for a child with medical complexities and we do our best, but that doesn't mean I believe it all the time).  Or maybe the choice was the best choice for the time period that has passed but now we have to go back to the deliberation room and review all of our notes knowing we are even more limited this time in our potential band-aids.  Maybe it could just be a simple fix, but history has repetitively negated that idea, so that is shelved until all the above has been ruled out in my mind.

In the back of my mind, there is always this voice that pops in to say what happens when we have exhausted all of our options and nothing works?  What then?  What choice do we have at that point?  Is there going to be a time that we say we have done all we can do?  If so, then what?  Gosh even with a little over 4 years under our belts in some ways I feel like we just started this journey.  The weight of the past and fear of the future continue to get heavier and heavier as time goes on, yet instead of it lasting a split second, it seems to be never-ending.

I knew

I knew the day would come.  I thought about it numerous times during her first year of life.  I wondered when exactly the moment would happen, how it would occur, the situation I would find myself in.  I never had a clear image of what exactly would transpire, but I knew after so many encounters that one-day things would be vastly different. I knew there would come a day when the small talk surrounding a run in encounter with a "baby" in a stroller would yield a different response than "how cute", "oh, is she 1?", "what's her name?", "she is so pretty", "what pretty eyes", and/or some other similar but positive and smile exchanging encounter.  I wondered at what point it would occur, always fearful of the day it would happen, but then of course forgetting about the potential on the day that it did.

After all the years of hesitant exchanges standing next to her stroller, eager to just smile along and chuckle at whatever praising remark was made, the one time that I forgot it could occur, is of course when it did.  I knew she wouldn't be a baby forever, I knew she wouldn't be tiny forever, G-d knows she has enough tubes and medical interventions erasing the Failure to Thrive diagnosis as we speak.  I was never naive enough to think that she would always get positive head turns, but in the end, maybe I was.  I knew once she was bigger she would get noticed for her hand stereotypies and her abnormal flexibility.  I knew people would start to realize she wasn't a baby, but in the majority of ways, she really still is, and ironically the phrase "look at the pretty baby" that used to make me grit my teeth because she wasn't a baby, I wish would return.

I knew her growing up would eventually happen, but I didn't expect for the day to occur while walking down 68th Street in New York City.  I knew one day someone would act in a way that hurt me to my core, but I didn't expect it to be a man walking a cute Yorkie named PJ, who (I can only assume) had zero intention to break a mother's heart while he was out walking his friendly dog.  I knew one day it would be completely obvious that the little girl in the stroller with splatter colored framed glasses and a customized pacifier clip was not actually a baby, but I didn't expect the silence after responding to the question about her age to be so deafening and feel like an eternity was passing by.  I knew one day there would be no words to fill the awkwardness that filled the air.  Yet the thing about preparing for the future with a diagnosis like CDKL5 is that there really is no way you can, because no matter how many dress rehearsals you have; when the curtains lift and you find yourself center stage, it is never exactly how you anticipated it to occur.