368 Days

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

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

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

1000 words

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

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

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

Suffering

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

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

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

Still...Always...Forever?

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

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

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

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?!"