Friday, November 15, 2019

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.


The Mighty Contributor

Monday, November 11, 2019

Now what?

Prior to the official CDKL5 diagnosis, we were told by the epileptologist who originally read Sonzee's EEG that she was most likely not going to outgrow her seizures.  At the time it was Sam who was told this when he asked him if he thought she might.  The doctor never went on to explain why he felt that, nor did Sam push for clarity.  I took that statement to mean the reason behind her seizing wasn't "a good one".  When she gained the CDKL5 diagnosis, we feared her getting the infantile spasm diagnosis, but held onto the fact that at the time she had only 50% chance of them occurring.  Sadly, it wasn't her that was spared.  Although we didn't have any sort of seizure control it was during and then after failing the specific infantile spasm treatment that I feel like we started losing this battle.

For close to 5 years we have made every attempt under the sun to try and alleviate some of Sonzee's seizures. We have failed a ridiculous amount of medications, had a device implanted, attempted CBD and THC with her very own medical marijuana card and knowing it most probably wouldn't help, still tried the CBD that became FDA approved last year.  Don't get me wrong, everything we have done has in some way made a slight difference, we have achieved some minor victories with these little CDKL5 wars, but it just isn't anything substantial enough to allow her to gain skills or not suffer all the time from constant seizing.

This past August for the first time in her life I said, "no more".  No more to the "maybe it will work", no more to the "let's just see", no more to the "we don't know", no more "trying it out".  After close to 5 years I know how this game works.  We had enough history to say "no more" was a completely educated statement.  However, when you aren't alone on a journey like this it takes both parents to say "no more".  Sam wasn't quite on board with what he calls giving up.  He wasn't quite ready to throw his hands up in the air and say we have given it our all, and so despite my better instincts I said "One more time, and this is it.  We give her a hardcore med and you see that it won't work and she will lose her head control and then that is it, we are done."

As of Thursday last week our epileptologist said, "if it isn't working, wean it as slowly as you started it".  So here we are, like I anticipated with just another medication/combo failed.  There is no victory in "being right", in "knowing" this was going to be the outcome.  There is just pure defeat, sadness, and anger that her CDKL5 diagnosis continues to prevail.  It continues to wreak havoc on her body and especially her brain.  It continues to not cut her any slack or let her have a victory.  It just leaves us all sitting here wondering..."now what?!"

The Mighty Contributor

Thursday, November 7, 2019

which one?

I recently participated in an online CDKL5 poll where the question suggested we choose the top three challenges that impact our child with CDD (CDKL5 Deficiency Disorder) the most out of the list of options provided. I made a sarcastic chuckle while I sat at the computer at work typing up my notes from the kiddos I had worked with earlier.  I wondered, "Is this a joke?!  Am I really being asked to prioritize what I perceive as my 4-year-old's biggest struggles from a list of around 10 items?  This has got to be the worst real-life version of the game “would you rather have and/or be?! ever played"  While I appreciate and completely understand this information is vital to assisting with potential treatment options, the concept behind the question and the question itself stirs up so much emotion.

The choices to rank were essentially every deficit CDKL5 could present with in a diagnosed child.  The only one that for us thankfully has never been an issue is lack of sleep, which is typically one of the most challenging effects of having a CDKL5 mutation, but at least one was knocked down on my list.  I am pretty sure she is only spared of that due to her ridiculous seizure activity that results in constant sleeping.  Otherwise, the list was comprised of all the challenges we are faced with and essentially zero way for me to identify which one is of highest priority for her to be rid of. 

She still has uncontrolled, daily seizures, so naturally that is at the top of my list since they are definitely not comfortable for her, they take away her already limited quality of life, and they make her sleep away her days.  But are they worse than her GI struggles? Those struggles for her are insurmountable, so much so that her stomach is completely unable to process even her own bile requiring it to be drained 24/7, she receives a portion of her feed directly into her intestines AND because that wasn’t sufficient to help with easing her pain OR providing adequate nutrition, she also has a central line so she can receive nutrition directly into her veins.  If I had to prioritize maybe this would be of highest acuity?

I do think that GI and seizure control are areas that are most important for researchers to tackle, BUT there was also the option of communication. You mean I now have to decide if our inability to communicate with our child outweighs the seizures and GI challenges?! How do you even explain to someone what it is like to have NO idea what your child is experiencing, thinking, wanting, and or feeling?! Every moment with her is equivalent to playing a game of charades with a newborn baby, EXCEPT she is 4 AND she makes ZERO functional hand/body movements.  I am sure she has plenty of thoughts and opinions BUT they are LOCKED inside her brain with an inability to get out. Even with the eye gaze device, she was provided, it is useless because she is so significantly impacted by her cortical vision impairment.   

In addition to those areas, there was also the ability to sit, bear weight, and or walk.  She does none of the above.  I wish she could at least sit, the amount of benefit that would give her body would be indescribable.  Maybe if she was bearing more weight and could take a few steps she wouldn't be phased with such severe osteoporosis that requires bisphosphonate infusions that we have stopped doing because they negatively impact her quality of life and the benefits do not outweigh that fact?!  Maybe if she were able to get up and move freely she wouldn't have suffered 12 fractures in a year due to significantly weakened bones?  

There were other options listed, but for the sake of the post I will stop here.  I wish there were a way for me to be able to answer what three struggles impact Sonzee the most, which three deficits I would say need curing the most, but the reality of CDKL5 is that her struggles are not limited to just three.  Fixing three or improving three while a great start, does not help when there are at least 3, 4, or more equally as negative struggles left waiting to be fixed.  Maybe I am selfish or wrong for wanting all or nothing, but there is no amount of potential suffering that is okay for any person.  There is no symptom/deficit/etc. that does not need to be cured.  There shouldn't be a priority list or a list that parents should have to choose which challenge is more significant than another.  CDKL5 mutations should just not be able to occur in humans and if they do, there needs to be a way to eradicate every single challenge that comes with it, so no person or family should ever have to wonder which struggle matters more!


The Mighty Contributor

Monday, November 4, 2019

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.



The Mighty Contributor

Thursday, October 17, 2019

The Little Green Dress

When Sonzee was first diagnosed the immediate thing that occurred was exactly what her diagnosing physician warned us against; going onto the internet and googling C D K L 5.  Within 2 minutes our world around us crumbled and life as we knew it was never going to be the same.  A mere 5 character string that weighed more than our at the time maybe 9lb daughter.  A string of characters that we didn't quite understand more than it meant we had found our reason for her seizures.  It was the answer we had desperately sought but that we no longer wanted to have found. Yet through the darkness came a network, a secret club, really an immediate family we had no idea that existed up until then.

I cannot exactly remember the first time I learned of the CDKL5 little green dress, but it has been close to Sonzee's entire life since she was diagnosed so early on.  The dress began its travels in the UK and has traveled around the world since it began its journey years ago.  Facebook has really helped give it a sort of fame if you will, as it was the pictures previous recipients (members of our CDKL5 family) postings that originally caught my eye.  Over the course of its travels, I watched as parents dressed up their little girls in a green fairy dress, thinking how sweet the girls looked in the dress, but not thinking too much more about the bigger picture.   That was until last week when the box found its way into our house.

I waited a day to open the box because it was delivered right before Yom Kippur.  I knew no picture would be taking place on Wednesday, so I didn't feel the need to see the entire box's contents.  Immediately after the holiday ended I opened the box.  I saw a smaller box inside and I knew once I peaked inside that I was going to need some moments with that box.  This dress to me is more than a dress with fairy wings and some lime green accessories.  There are children who have worn this dress who are no longer with us, there are children who will wear the dress in years to come who have not even been diagnosed yet, maybe who have not even been born yet.  There is a world that is represented in this dress that is indescribable. 

After I took Sonzee's picture I posted this on her facebook page.  I won't ever know why our family was chosen to live among this community of rare.  I won't ever understand why my daughter has to struggle to live each day and why she has to have seizures all the time.  I won't ever be privy to the details of the greater plan, and truthfully, I am not even sure I would want to even entertain what I would be told because I would probably still be annoyed, upset, disappointed, and downright irate over the reason.  Yet, one thing I do know, one thing I won't ever take for granted, and one thing this dress symbolizes is that we are never alone on this journey.  There are families who have lived this journey before us, there are families living this journey alongside us, and there will be families living this journey after us...and that is something that is unique, powerful, and ironically beautiful about this whole entire world of CDKL5.

The Mighty Contributor

Monday, October 7, 2019

We all have...

Over the past few months, I have been fortunate to get closer to various women and have some rather intimate conversations.  They aren't just about Sonzee, they aren't only about special needs children, the subject matter varies depending on the person, and there is always discussion regarding a personal struggle.  I didn't need these conversations to know that everyone struggles in their own way, but they are always an incredible reminder of all the struggles that every single person has to deal with.  That part is double-edged because there shouldn't be such intense struggling for people to have to endure, but it is good for us all to keep in mind we all have to deal with less than ideal situations all the time.

So often I am told that I am so strong for dealing with what I have to, but I wonder how many of those people who say that to me realize they are the same strong for dealing with what they might not have even shared with me.  No one can begin to understand the exact struggle of another person because it isn't theirs to own.  It isn't one they have to understand inside and out.  It isn't one they wish upon anyone else.  It isn't one they even know how they are going to handle themselves.  But since IT was the struggle they were given, they will HAVE no other choice but to be strong and tackle it day in and day out.

To quote one of these amazing ladies, because it sums it up perfectly, "we all have our Sonzee's".

The Mighty Contributor

Thursday, October 3, 2019

Instead

On the first day of October, my newsfeed was filled with posts regarding infant loss and miscarriage.  This is such a sensitive and personal topic, but the more the posts that popped up on my feed the more my mind couldn't ignore my thoughts and feelings.  I personally make it a mission to avoid any controversial topic that could possibly offend others, but I just can't seem to bury my emotions on this one, so I am going to hope at least one other person will be thankful for this post.

3 years ago Sam told me to take a pregnancy test.  I argued with him, I told him I wasn't pregnant.  He said, "I have done this enough times to know you...take the test".  Three tests later and me convinced they were all incorrect we laughed and cried.  We weren't ready, Sonzee was not in the best place, our minds had not even settled on whether or not we could handle a fifth child.  I mentally had not come to terms with the fact that there would be absolutely no way to confirm if this baby would be healthy, how would I be sane for the entire pregnancy?  I emailed Sonzee's geneticist, I scheduled an appointment with my OB immediately, I panicked.

Our OB knowing where I was mentally immediately sent us over to the perinatologist we had used on the previous pregnancies for various unrelated to Sonzee reasons, and he got us in almost immediately.  We sat in his office and discussed all of the options should we find out this baby wasn't healthy.  He also said that during Sonzee's next labs we could send a vial over to a company that hadn't done her initial genetic testing to have them "confirm" the results so they would have it on file for any comparison testing we might do with the fetus.

4 weeks later we sat in the same office as he told us there was no heartbeat.  I recall feeling half relieved and half disappointed.  I rationalized that we had 3 healthy kids and that we weren't ready, but I feared that this baby might have had CDKL5.  Did that mean Sonzee was the result of germline mosaicism?  Did that mean we shouldn't even try again?

It took another 4 long weeks to actually miscarry and another 2 months for my lab work to return to normal.  The entire experience was 5 months in total. 5 months where others announced their pregnancies, 5 months where friends had healthy babies, 5 months that I was emotionally all over the place but few people knew the real reason behind it. 5 months where I couldn't move on.  I was and am still filled with mixed emotions over the experience.  I mourn the loss of the potential, but I do not mourn the fact that I truly believe something was unhealthy with the baby AND I know what having an unhealthy baby means. 

I spent a lot of time thanking g-d for knowing I couldn't handle another child like Sonzee.  I understand what happens when genetics doesn't get it right and the challenges that are the result of that shift.  I understand on an entirely different level than I could ever want, what happens if a child is compatible with life, but not capable of being a typical functioning member of society.  I understand how devastating the loss of a child can be, but I also know that in a lot of cases it is for a reason.  While we may never be told the exact reason, and not everyone can understand what it is like to be on the medically complex side of what that potential reason might have been, for someone like me, while I mourn the loss of what could have been, I am grateful that instead of having to watch another child of mine suffer, all of the pain of the what-ifs, of the potential, and of the unknown, was placed onto me to bear instead.


The Mighty Contributor

Monday, September 23, 2019

The stars

One of my mom friends, Bridget, who also has a child on a medically complex journey posted a song on Facebook with the words, "Might seem strange, but sometimes a romantic song can actually change its meaning when you have a child", she went on to say "If you're a mommy of a non-verbal child; this one's for you."  For the past couple of weeks, our house has been slightly obsessed with listening to "The Greatest Showman" songs on Spotify, on the house Alexa, on YouTube, literally, anywhere we can get the songs playing.  I love all the songs on the soundtrack, however, "Rewrite the Stars" is the one that if you pull up next to me driving, you can bet money I will be belting out the words as loud and off-key as possible with tears in my eyes or rolling down my face.  

It seems to be the perfect duet with Sonzee these days.  Almost every single phrase I can relate to her life and our situation.  From the heartbreaking reality that "Fate is pulling you miles away And out of reach from me", But you're here in my heart".  To the literal facts that I am sure she feels, "You think it's easy You think I don't want to run to you But there are mountains And there are doors that we can't walk through".  Which leads me to the basic question, "How do we rewrite the stars?"  

Oh gosh, if only we could, if only it actually was possible.  No matter how many times I listen to the song the words crawl inside my heart and just sit there.  These last few weeks have been ridiculously brutal on Sonzee, on Sam and me, on our marriage and general family life.  The situation we are placed in is not normal and shouldn't even be considered normal in our special needs, medically complex, "atypical" world.  Decisions have been made, choices have been made, but there is no winner.  There is no winning in this lottery.

"No one can rewrite the stars", but "Say that the world can be ours".  "Say that it is possible, because "It feels impossible...We're bound to break and my hands are tied".

The Mighty Contributor

Monday, September 16, 2019

September

I wonder what it is about September and my inability to get my thoughts out of my mind.  I am thinking it is because this month historically tends to bring about undesirable thoughts or just doesn't do much to bring closure to any situations we are currently facing.  I have spent the majority of the previous two weeks not even wanting to sit down and write.  A few times I did consider it, but then decided I wasn't ready to make my thoughts completely public.  One additional time I began to write and two paragraphs in I was met with a barricade and haven't gone back to see if I am able to finish.  Tonight I am watching the time tick by, my eyes are blurry, but for some reason, this piece of paper keeps calling me back to it.

There is a constant lump stuck in my throat and tears that are literally a blink away.  4.5 years ago I couldn't have imagined a more delicate, emotional, and challenging journey to unfold for us.  4.5 years ago she was doing so well comparatively, and we were going to have the child who "broke the mold", who was the outlier, who didn't check off every damn box in the potential for CDKL5 directory.  4.5 years ago I told myself that she probably wouldn't sit, and if she did it would be around 3 as a method of self-preservation, but deep down I rooted for her, and could envision the excitement and party that was definitely going to unfold when she DID meet that milestone.  4.5 years ago we were blissfully unaware of the struggles that were occurring within her body metabolically and gastrointestinally speaking.  4.5 years ago we took it all day by day but woke up each day celebrating whatever Sonzee-stone she met.

Today on the couch in our living room we had another weighted conversation.  This wouldn't be the first of its kind this month, and it certainly won't be the last.  They are conversations that I never anticipated could occur in a casual manner, as we were drinking some cold brew, and while two of our kiddos were running through the house.  Conversations that prompted us to keep sending the one child who was old enough to understand on various expeditions to keep him out of earshot because it probably wasn't the most appropriate conversation for a child to be overhearing.  But as everything else CDKL5 related, we find ourselves dealing with a new normal, of completely abnormal and just going along with it, because that is all there really is for us to do. 


The Mighty Contributor

Monday, September 9, 2019

Choices.

A week ago everyone was home from school, the day was perfect to be outdoors, and without even second-guessing anything, we took Sonzee's port needle out and she was able to spend her day in her favorite place, the pool.  Despite losing time on her TPN/Lipids, it was an obvious choice. On Tuesday my phone rang and it was her endocrinologist's nurse.  I can't say I was not expecting this phone call, but I would be lying if I didn't admit that it should have occurred weeks ago and I was just waiting for it to happen.  The insurance kinks of her bone infusion have been worked out (I knew this weeks ago, but didn't rush to tell the office) because we have yet to decide is if it is in Sonzee's best interest for her to undergo the infusion.  On Wednesday Sonzee ended up with a fever and the protocol with the central line is anything over 100.4 becomes an automatic ER trip, yet we didn't exactly rush to take her in, the odds were in her favor that it was "just a virus", and lately the consideration of hospice has been on our minds.

Choices.  This journey presents us with the illusion of choices.  A choice is deciding on what is for lunch or dinner, or what drink you want from Starbucks.  By the way, all of those, thanks to the type of choices we have been presented for the past 4.5 years evoke major anxiety and panic attacks.  How is it even considered a choice to decide if Sonzee should go in the pool and have fun or be given nutrition?  Why do we have to decide to attempt to strengthen her bones to maybe prevent fractures and improve her bone health or keep her from experiencing 6 weeks or more of pain that historically wreaked so much havoc on her body she will cry to be picked up and won't be able to tolerate feeds for weeks?  Why are we even having to consider if we should be switching our 4.5-year-old daughter from palliative care to hospice care? 

None of this makes sense. Processing that this is part of our journey knocks the air out of my lungs. These choices might not have a "right" or "wrong" answer, but the results of each choice impact her life and our family's life.  There is no way around sugar coating the immense amount of weight that we are bearing.  I wish the biggest choices we were faced with were, which after school activities she wanted to be participating in, what lunch she wanted us to pack, and does she want to sleep with a nightlight on in her room?  But, that isn't our reality, and that isn't how life with a CDKL5 mutation works, so I will wipe away my tears, pull on the big girl panties, and try to do this right.


The Mighty Contributor

Monday, August 26, 2019

"Giving up"


This meme keeps popping up in my newsfeed.  The first time I read it quickly and passed by it, it was not the right time.  Then, of course, like a wildfire, it began to get copied and pasted by so many parents of CDKL5 kiddos and parents of children with medical complexities, so it popped up more and more.  Each time it emerged I couldn't stop myself from reading it, so each time my eyes would become watery and I would again move off the image.  I knew I wanted to save the image for when I was ready to address the words I kept reading, so eventually, I right-clicked it and pressed "save image", and now approximately a week after the first time I saw it, here I am.

"You're really advocating for someone's quality of life.  That's the moment you realize that you won't give up"

These two sentences take the air out of my lungs.  Maybe they hit home because of what is going on currently, maybe it would have knocked the wind out of me regardless of where we were on this journey had it appeared at another time in my newsfeed?  But all I think after I read the last sentence is, "what is giving up? what does giving up look like, how are those words even part of this picture?"  Advocating for someone's quality life is no small feat.  It looks vastly different for every single person who has to do it.  Advocating on someone's behalf is scary and unknown and when it comes to "quality of life" I feel like the answers are blurry, but the giving up part does not present itself as a single moment when it becomes "more than accommodations".  If you are advocating on behalf of a person there shouldn't be an epiphany where you suddenly realize "that you won't give up", because advocating in and of itself means you are going to represent what is best for that person until you are red in the face and no one has any doubts that you aren't backing down until this person's needs are met.  

Yet, the weight that is placed on those of us who are responsible for advocating for a person's quality of life is unexplainable.  It often brings with itself the inner feeling of wondering if a choice will be considered to be "giving up".  When it comes to "quality of life" in a medically complex child, who is to say what "giving up" looks like?  If the choice you choose on behalf of "quality of life" results in a potentially shorter life is that giving up?  Is it "giving up" if you no longer choose to keep seeking treatments?  If the main goal is "quality of life", then I feel like the words "giving up" should never even enter into our minds, because it has to be known that there is no such thing as "giving up".

The Mighty Contributor

Thursday, August 22, 2019

When life gives you lemons


When Sonzee was only 10.5 months I wrote a blog post about lemons.  As I read it now I know it was one of those posts that I wrote to try to boost my morale and attempt to be positive.  So much has happened since that blog post, yet there is still the same passionate desire for "her life [to] be easier, less painful, less scary, and less dependent."  I cannot say that these past 3.5 years have brought any of those things, but it certainly was not for the lack of trying.  I know we have made every decision for her based on our desire for her to achieve her best quality of life possible.  I will always wonder if she feels we have been successful or if she wishes we made different choices.  

Last night one of her sisters was at a class at the mall and while I waited I was able to walk around a little.  I have been meaning to get the initial bracelet for her baby brother because my best friend started the tradition when our oldest was born when she sent me the "L".  So when I saw the Alex and Ani store, I walked inside.  After picking up the letter "N", I was taking a look around.  These last few weeks we have been bearing an extremely heavy weight on our shoulders and I wanted to see if anything spoke to me, so when I saw the lemon, my only decision was necklace or bracelet.

I wish I knew what you're supposed to do "when life gives you lemons" because Sam and I don't always agree.  We have tried shelving them, squeezing them, making lemonade, freezing them, throwing them, making margaritas and every other possible alcoholic beverage with them.  Nothing seems to be fulfilling, nothing seems to make me feel like we have done anything correctly, nothing seems to make sense, and nothing seems to have made a damn bit of difference for everything we have done for Sonzee.  The only thing I can say is that we have been doing our absolute best and no matter where this journey goes, there won't ever be regrets.  

So every day I put this necklace around my neck I will remind myself that when life gave us lemons we did everything we could with the information that was given to us, with the support of those who have shared in the ups and downs of this roller coaster ride of a journey, and that really was the best we could do, no matter how short-changed or inadequate it might have felt.


The Mighty Contributor

Friday, August 16, 2019

Riverbend

We had the Alexa playing Disney radio this afternoon after Sonzee got home from school.  I feel like more often than not it plays the same exact songs on repeat; songs from Beauty & the Beast, Frozen, Moana, Tarzan, Little Mermaid, and The Lion King are the most often played.  For some reason today I noticed not only once, but at least twice "Riverbend" from Pocahontas came on, I wonder if it has played before and I just didn't hear it, or if today it was just one of those songs that came on because it was so relatable.

I feel like life has given us a swift kick in the behind these days.  These last two weeks especially have been weighing ridiculously heavily on me.  It seems it is just one thing after the other and I have no idea why it feels like everything is crashing down around us.  We have been in the trenches before, but for some reason, this time just feels different. As usual, I have no idea what lies ahead, but this time my heart hurts for different reasons and my gut is yelling at me at the top of its lungs.  It is deafening and suffocating any other thoughts all at the same time. 

It's tough, although I feel like that word doesn't really bring justice to what this whole journey has been and continues to be. But tough is just what it is, and for now "I look once more just around the river bend.  Beyond the shore where the gulls fly free.  Don't know what for what I dream the day might send. Just around the river bend for me"


The Mighty Contributor

Thursday, August 8, 2019

Resurface

The pain that accompanies this experience is one that I am sure will resurface as the years continue to breeze on by. 

I was driving in the car this morning on the way to a toddler gymnastics class with Sonzee's baby brother.  I have been looking forward to starting this class since the minute he was born.  As the months past by I was so eager to enroll him, and finally about 3 weeks ago I did just that.  I confirmed that our beloved Coach Susan was teaching all the morning classes like she did over the previous years.  Halfway to the gym my eyes filled with tears as I was thinking the first time we set foot in this gym was 8 years ago, then our second child followed suit as soon as he was 18 months, followed again by our 3rd, but then our time with Coach Susan came to an end with Sonzee, and now here I am bringing baby #5.  At that moment I remembered I had written a post about that chapter closing.  While not completely surprised I found myself crying again in the car, it still caught me off guard.

My heart finds itself in a constant battle of celebrating these amazing family milestones and broken over Sonzee never being able to be part of them.  Had she been able to bear weight maybe we could have modified the class?  Had she been able to sit maybe we could have had her do the circle exercises?  Had she been able to use her gait trainer when she was younger and in an efficient manner, maybe she could have run in a circle?  Maybe if she hadn't spent her earlier years in excruciating pain we might have learned she loved gymnastics?  No matter how many therapies or activities we have tried her in, it won't ever make up for the things that she has been unable to participate in. 

Lately, my heart has been in so much pain over where we are today.  A giant disaster of a circle that truly is never-ending but yet always seeming to start back up with pain, discomfort, sadness, and difficulties.  I do not understand how much more her little body can take and I do not understand why it has to be this way.  I can't even imagine what else could pop up, but I am sure I won't have to wonder too long because inevitably it will present its unwanted self.  Not surprisingly, but yet at a level of fascination with myself, I cannot believe how spot on I was so early on in this journey to assume all of these emotions would resurface, because they certainly always do.

The Mighty Contributor

Tuesday, August 6, 2019

Processing

It feels like it has been forever since I last sat down and allowed myself to take a deep breath.  I decided even though I am exhausted from our final drive home, the beginning of unpacking, and the fact that it is 1:44am, I wouldn't let myself go to sleep without writing a blog post.  So many thoughts popped in and out of my mind over the last couple of weeks, yet time didn't allow for me to devote more than the second to them, and I know I need to make them coherent and sort them out in and outside of my mind.

This summer has officially come to a close in terms of travel and play, albeit not so much in terms of Phoenix's 112-degree forecast.  I am not fully ready to reflect on the events of summer as a whole because for the first time in Sonzee's life I feel like this summer was not actually a summer.  I honestly feel in a way we were robbed of my expectations, and maybe that was my fault for even setting any.  That is what I hate about CDKL5, so many plans that don't come to fruition, in their place is the life that I have minimal say and control over, and for some reason, I am still unable to relinquish the reality of that concept.  Deep down I know that there is a reason for everything, that there is a purpose for everything that occurs to Sonzee and for all the experiences we have because of her, but closer to the surface it remains a constant struggle.

4.5 years in and I still cannot grasp why she needs to struggle for any potential "better good".  While I am so fortunate to those who have literally become like family to us, I wish it was not at our daughters' expenses.  There is no amount of life learning lessons or inspirational gain that should come at the hands of pain and suffering of Sonzee or any other child.  I still have moments, like right now where I wonder why her?  I still hate that this is her life and her reality.  I still hate having to act like I am okay with any of it because of occasional societal pressures.  I still cannot shake the pain and physical strangling feeling that has consumed my heart since first hearing and reading the letters CDKL5, and I am starting to understand that I don't think I ever will.


The Mighty Contributor

Monday, July 22, 2019

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.

The Mighty Contributor

Wednesday, July 17, 2019

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.

The Mighty Contributor

Monday, July 15, 2019

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.



The Mighty Contributor

Thursday, July 11, 2019

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 Mighty Contributor

Monday, July 8, 2019

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.

The Mighty Contributor

Friday, July 5, 2019

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.


The Mighty Contributor

Monday, July 1, 2019

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.

The Mighty Contributor

Monday, June 24, 2019

Are there...

"Are there ever even split seconds where you forget you have a child with CDKL5?" read a text across my screen a week ago.  I replied with, "I haven't had that I don't think".  My friend explained what had occurred that prompted the text and I replied with a sigh emoji.  The conversation ended.  A little over a week has gone by and I honestly had forgotten about the text, until yesterday morning.

Sam left on his drive to NY with a trailer full of all our things and I am still in Phoenix with all of the kids.  The older kids and baby brother were running around the house, some in their pajamas, some actually dressed.  None of the girls with their hair brushed, and it is debatable if any really had brushed their teeth when I asked.  I was going between the kitchen and Sonzee's room getting her refrigerated meds and making her batch of food, sorting it into containers, and then bringing in what she needed to begin the day.  I changed her diaper, picked out her outfit for the day, started her feed, and then began giving her meds.  Part way through her TPN/Lipids finished and I got out my supplies to heparin lock her central line.  After I was finished I hooked her feeding bag on her Rifton chair, scooped her up, and simultaneously words flashed across my mind as if I was replying to a freshly asked question.

"How can there ever be a split second where I forget I have a child with CDKL5?"  Whether she is awake or asleep there are always tubes coming out of her body.  When I watch her sleep she is always hooked up to a machine.  The only way for her to get in and out of a chair or car is with full assistance.  She cannot get from point A to point B without someone else being involved.  My dreams are beyond having substantial hope for her to have a functioning CDKL5, and my nightmares consist of what is going to happen because of her CDKL5 deficiency.  There are no split seconds of forgetting she is not typical; thank g-d for that too, because coming back to reality a split second later would most likely cause me to fall to my knees and suffer another form of diagnosis day, and I am over that repetition, it happens enough as it is.

As I brushed her hair and picked out her hair tie, I was still thinking about all of my split-second thoughts over the past 4+ years.  How does she have CDKL5?  Why does she have CDKL5? What if she never had CDKL5? What if she were typical?  How would our lives be different?  How would our family look?  What would it be like to have 5 typical kids?  Would we even have 5 kids?  What is a typical life?  Why can't I remember what life was like before CDKL5?  What kind of parent was I before CDKL5? The list continues, there are so many split seconds in a day, but none of them are ever filled with that minuscule bliss of forgetting she has CDKL5, but maybe like everything else, it is for the best.


The Mighty Contributor

Friday, June 21, 2019

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.


The Mighty Contributor

Monday, June 17, 2019

CDKL5 Awareness Day 2019

2015 was the very first year that today became "a day" in our house.  The very first June 17 we all wore CDKL5 shirts and we hung balloons on the CDKL5 awareness yard sign that was placed at the edge of our yard.  We had only known what life with CDKL5 was for technically 4 months and 6 days but really only for the previous 7 weeks after we first learned that CDKL5 WAS the reason behind Sonzee's lack of eye contact, her lack of ability to hold up her head, her lack of ability to give a social smile or to roll, and the reason why she was constantly seizing.  Since that very first June 17 I have always struggled with this day, staring at a blank blog screen but eventually figuring out the best way for me to give homage to a day I rather not know exists.

My biggest struggle with this day is that my brain is conflicted on what the purpose of this day should be.  I wonder if I am supposed to give a little more insight into what exactly life with CDKL5 really is.  I wonder if I should share statistics of the prevalence of CDKL5.  Then I wonder if it is better for me to not say too much, after all, there is surely a newly pregnant friend of mine scrolling through facebook who certainly does not want to know that such a life like this does exist and could happen to them.  I wonder how much I should share as far as how much Sonzee struggles or post one of her seizure videos that inevitably gets cut off at the 10-minute video mark because that is all the seizure tracker app allows.  I wonder if any part of this actually makes a difference to anyone who is not living this life and if so what type?

Bringing awareness to CDKL5 doesn't help prevent the diagnosis occurring to the projected 2 currently undiagnosed families wondering why their child is experiencing seizures, delays, and or difficulties each week.  It doesn't change the fact that based on the projected rate of incidence there are thought to be 30,000 individuals living with CDKL5, with the "official" diagnosed count between 2,000-3,000.  Knowing about CDKL5 does not change that 1:40,000-60,000 births will result in a new baby joining the family. 

Wearing lime green, a CDKL5 child's "team" shirt or some article of clothing with CDKL5 most likely won't bring about questions or do much to strangers walking by, yet all of us families essentially beg others to do so for us.  When you stumble across one of those requests you might continue to scroll by, thankfully it does not really apply to you, and luckily you dodged this really awful bullet.

As I sort through my emotions about awareness and balance out the ups and downs of this roller coaster of a journey, I am left with the feelings of respect and honor.  Today is a day that some of us will always love to hate and or hate to love, but regardless of which, we will shout about CDKL5 from the rooftops to anyone who says even one word to us.  It is a day to simply be aware of all that those of us with a child diagnosed with a CDKL5 diagnosis have lost but simultaneously gained.  It is 24 hours devoted to so many people coming together due to an unfortunate common bond as we try to do something, anything, whatever it is we can to try and make our children's lives the best they can possibly be.  And so to that I say, please help us spread awareness of CDKL5.  Please help us get our stories heard so we can continue research efforts to maybe one day, hopefully during our children's lives, bring about some sort of permanent formal seizure control, and or some type of way for them to make-up all the milestones that they continue to miss.  If for no other reason, please help support us on our journey as we simply parent children who could have very easily been yours.

The Mighty Contributor

Tuesday, June 11, 2019

But just because


As we finished our three day holiday weekend, my older kiddos and I sat on the couch deciding what book I would read to them.  I have an Alice in Wonderland series from my childhood and originally I grabbed that.  Naturally, that opened the way to my son announcing it was "girlie", and my oldest daughter wanting me to read a "Babysitter's Club" book instead, and me saying "It's not girlie, and no we aren't reading the Babysitter's club".  As I opened the book to begin reading my son ran excitedly over to me, handed me "The Phantom Tollbooth", and I said, "Oh, yes, this will be great".

I have to admit I have always known about this book, but honestly have never read it, so part of my desire to oblige my son completely came from the fact that I wanted to read this.  So the four of us sat down together and I began to read.  As I turned each page and read the words I kept thinking how amazingly quotable this book is.  It seemed as if every other line was one I wanted to burn into my mind to reference at a future point. Some of the phrases were cute, some made me chuckle, and others I felt spoke to me in a different way.  We only got 4 chapters in when it was time for the kids to get ready for bed, but I knew there was a quote I had not come across that somehow would be the perfect quote for me to relate to Sonzee.

I posted a picture on Sonya's Facebook page and mentioned how I had hoped Sonzee wouldn't have another seizure but of course within 10 minutes of posting that my hopes were dismantled.  During the 10th day of CDKL5 Awareness month, during neither her first nor most likely last 13+ minute seizure of the day, my mind wandered.   Should I post one of her seizures? Does posting one actually brings more awareness or just bring about pity?  If I posted it would people even want to watch it? I am pretty sure those of us who have to, would much rather not.  If people watch the video would someone comment about our lack of giving her a rescue med 2 minutes in?  I responded in my mind to that comment with the blatant fact that rescue meds do not stop her seizures any quicker than her body chooses to finish them and inevitably within 4-5 hours another one would occur again.  

Returning back from "seizure land", I was wondering if it was time to email her epileptologist and ask for the new medication titration schedule.  Feeling all sorts of weight from watching her endure all that she just had and not even feeling a glimmer of hope that we would ever stop her from this sort of suffering I came across the most clarifying quote.  Maybe CDKL5 won't ever be a string of characters that is known to everyone or will make the daily news in every city, in every state, in ever country, or on every continent.  Maybe there won't ever be a child with a CDKL5 mutation who makes it onto Ellen or is born to a world figure, actor, or famous athlete.  Maybe seizure control or the ability to be more typical won't ever be in Sonzee's cards, and Maybe finding a cure for CDKL5 won't, sadly, fall during her lifetime...

The Mighty Contributor

Wednesday, June 5, 2019

CDKL5

Jun 4, 2019, 2:59 PM
"Hi Randi,
I just got Sonya’s WES back today – it found absolutely nothing else (other than her known CDKL5 mutation). There were not even any variants of uncertain significance. And mitochondrial sequencing was normal too.
So at least we know there’s nothing we’re clearly missing in terms of a second diagnosis."

4 years ago Sonzee received her official diagnosis.  It is the reason behind her seizures, the reason given for every other situation she has encountered since.  The reason that has never given me any excitement as an answer because there is no solution to the issues with an answer like CDKL5.  It was a reason and an answer that just wasn't good enough, so we sought for more clarity, and just shy of 4 months since we did so the answer remains the same.

CDKL5.

While I should be ecstatic that her only mutation is CDKL5, I am honestly completely devastated.  I feel the wind has been knocked from my lungs all over again.  Every single one of the additional diagnoses that she has acquired since she was a newborn baby are all due to a spelling error on one gene out of the 20,000-25,000 that she has in her body.  How can one little gene carry that much weight, how can it hold so much responsibility, how can it create so much havoc? 

I wanted there to be something else to share the burden of all that has happened to her body.  I wanted to be told that her brittle bones and her horrific GI system were not all due to her CDKL5 mutation.  After all, there are not as many children who have either of those issues in the same manner as Sonzee, so there had to be another reason why, another gene to blame, another thing that could share in the cause, another thing "Sonzee related" that explained why.

But here we are, 4 years into her journey and 15 years since the CDKL5 gene was identified in 2004, and children like Sonzee are still seizing 100s of times a day, are still unable to walk, are still unable to talk, are still unable to live independently, and are still dying, all because of a "tiny" mistake on an extremely imperative gene for typical function, all because of CDKL5.


The Mighty Contributor

Friday, May 31, 2019

Becoming wise

I have always been a type A person, and one of my biggest challenges is relinquishing any type of control.  Add that trait to having a medically complex Sonzee where a slip up in the majority of her care could result in catastrophic results, and well you get a neurotic, anxiety-ridden, overprotective, helicopter mom Randi.  I would say it sounds like it could be a good thing, but rereading the previous sentence, it sounds just as crazy as it is.  The reality is that on one hand, it really is a good thing because when life depends on not making mistakes or following procedures specifically, you need to make sure there is one person in charge, the downside is that then it falls to one person, and the fact is, there doesn't have to be just one person doing it all.

Yes, there is a specific protocol for some of Sonzee's medical care that does require a specific set of directions to be followed.  Does that mean it has to be done in the same exact way by every person? No.  Does that mean if it is done slightly different than it is wrong? No.  Does that mean that I am ok with the slightest alteration of my perceived only way? That would be a BIG FAT No!  The truth is, as long as the main components are followed, in theory, she will survive with someone else performing the care, and raw truth time, the fact that I have made it so I have to be in total control has placed an unnecessary burden on me, and created a situation where I am more apt to make a mistake than someone else.

Coming to this revelation over the last couple of months has been both scary and refreshing.  Caregiver burnout is real, it exists, and it can be dangerous for so many reasons.  There is a reason jobs come with paid time off.  There is a reason for fall, spring, winter, and summer vacations.  Everyone needs and deserves a break.  Everyone needs a chance to rest, recharge, and be given the opportunity to come back to work with a fresh pair of hands and a clear set of eyes.  I can just about promise that the majority of moms of special needs hardly consider the fact that they really really really need a break.  But maybe if we all realize it honestly isn't even just for us, but for the well being of the entire family unit, it might be considered more often. 

Now realizing this truth and doing something about it are totally different things, but awareness is key and knowledge is power.  So like everything else I have learned on this journey, it is the inchstones that count.  So this morning while I write my blog post sitting at my best friends kitchen table in Florida while drinking a venti Starbucks coffee, I trust that I have left Sonzee in the most capable hands, with an immense amount of love, and I did it so that I will come back to her better than I left her, with a refreshed point of view and some solid hours of sleep to carry me through until the next time I am wise enough to know that I too need and deserve a break.

The Mighty Contributor

Monday, May 27, 2019

Wish I could...

On Saturday night my three oldest children and my nephew who is only 7 months older than Sonzee had a much anticipated, by all, camping sleepover in a tent in my parents' backyard.  The kids planned this sleepover weeks ago, my father has been eager for it to happen (probably) literally forever, and no one was more excited that Shabbat ended then all of these participants.  I loaded the 4 kids into the car filled with backpacks, stuffed animals, pillows, books, games, and an overabundance of energy and excitement.  I had a quick detour with our middle daughter so the initial drop off occurred and we returned about an hour and a half later.  Despite returning twice, neither drop off included Sonzee, she was at home seizing in her room.

During my second return I popped in for a bit to steal some dinner, grab a smores, and take some adorable pictures, but didn't want to take away the kids parent-free, way too much candy, junk food, and Gatorade, typical grandparent spoiling grand event that was occurring, so I left shortly after I arrived.  I returned home to two little people tucked into their beds, and within 30 minutes Sonzee's pulse oximeter began ringing.  I am partially relieved she is back to these atrocious seizures because when it begins to ring it is a guaranteed seizure when it alerts, there are no false alarms, and no wondering if we might have missed one.  6 minutes and 5 seconds later she was finished, I tucked her back under the covers, I disconnected her from her tube feeding because the pump was ringing they were finished, I checked her central line, made sure her TPN/Lipids were not leaking and everything was secured, gave her a kiss and walked out of her room.

After I got ready for bed I opened this mindless candy crush meets decorating game on my phone that I play religiously at night before I fall asleep.  I stared at the start screen frozen as if I forgot how to press the green play button staring back at me.  My mind unable to turn off, was unable to forget the fact that Sonzee should have been tucked into the tent in my parents' backyard with her siblings and her currently same-aged cousin.  I cannot tell you how often I forget her cousin and her are the same age for 5 months and 5 days every year.   I cannot tell you how often I forget that Sonzee is a school year away from Kindergarten, the same grade her middle sister is graduating from in just a few weeks.  Of all the things I constantly forget about her, I wish I could forget that her age puts her perfectly alternating with her cousins and that she should be at their school having recess with her older and younger cousin.  I wish I could forget that she should be having a 1:1 sleepover with her bubbie and pop-pop when they are in town, that she should be having play dates with her cousins and annoying her sisters when they have friends over.  What I really wish is that I could forget everything that she should be doing if she had only had a functional CDKL5 gene.




The Mighty Contributor

Thursday, May 23, 2019

May 23

May 23 seems to be a difficult day every year.  It is really odd considering it is the birthday of Sonzee's middle sister, so you would think it would only be a day of complete celebration, but that is mainly the reason that it is not.  This date every year has become one of those reminder days.  A day that reminds me of how much our kids, especially our 3rd have had to sacrifice since the birth of Sonzee.  A birthday that was celebrated only one time before Sonzee was here.  Which means this year it has been 5 middle sister birthday's that have gone by since.  Which equates to essentially her early childhood years (and even her birthday itself in 2016) have been spent in and out of hospitals as a sibling in tow.

Sonzee's middle sister has always taken the role of big sister seriously.  Prior to even turning 2 or being potty trained, she learned how to identify and notify us of Sonzee having a seizure.  That means on top of the typical things she has learned over the last 6 years, she has spent over 4 of them gaining medical and life knowledge she should not be exposed to.  Due to her being so young and not not in school in 2015, she was the only sibling to see Sonzee outside of the NICU the day she was born before she was sent up 2 hours after her birth.  She bonded with her in 2 different NICU level nurseries and in 2 different hospitals before she celebrated her 2nd birthday.  There are numerous pictures and videos of her kissing, coddling, cheering, dancing, and playing with her.  These captured memories make me so happy to watch and yet so sad because they aren't showing what should have been typical sisterly bonding moments. 

Each year on May 23 I am reminded of how many years have truly gone by.  It is the first immediate family birthday after Sonzee's.  It is the birthday that not only ages her middle sister but also ages Sonzee.  It is the day that I am forced to realize how old everyone in this house really is.  It is the day that falls at the end of the school year where we say aloud how crazy it is that each child is going into grade xyz next year, thus making it unavoidable to realize that where Sonzee is going physically does not match up to her developmental status. May 23 is a day we recognize another journey around the sun has occurred for our middle daughter, we accept that it means it was another year she was forced to grow up sooner than we had planned, and it is just another day that CDKL5 barges in and makes itself known in a random and unexpected way.

The Mighty Contributor