Suffering

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

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

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

Still...Always...Forever?

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

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

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

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?!"

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!

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 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.

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".

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 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".

"choices"

This week we had Sonzee's monthly TPN/Lipids appointment.  I prepared myself for the possibility of not so desirable information being shared just so I wouldn't be caught off guard this month, but sitting there I realized that the fact that she is receiving an intervention such as this, requiring monthly appointments means that any optimistic mental preparation is nearly impossible.  I am bound to be caught off guard over something.  Listening to her doctor talk about things we have heard thousands of times and have even said ourselves, sometimes seem to be heard as if they are being shouted via a megaphone for the first time.  I feel like they are the answers to the choices, but since I wasn't ready to accept them I didn't really hear them previously. 

I left this month's appointment giving in to the fact that a central line is here to stay, her body will always need some sort of IV nutrition or fluids, and she will never be able to maintain her nutrition or comfort via her j tube.  Deep down I have always known this was her fate.  But this month it makes me angry, it makes devastated, and it makes me wonder what would have happened if we never put this option on the table to begin with?  I feel stuck, torn between which perspective of quality of life we are honoring.  The one where she is comfortable so she can actually enjoy life and wondering if being attached to tubes and having central line access allows her to actually enjoy the life that has now become comfortable. 

Depending on either perspective we have new decisions to make with new choices.