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.