When?

I feel like this April, in general, hit me like a ton of bricks.  Deep down I know the reason is that we have been on this journey for 4 long years and even though each minute brings on something slightly different, the meat and potatoes are always the same.  It is the same race for a cure, the same challenge to find seizure control, and the same tight rope walking of managing a nonverbal 4-year-olds quality of life. The years seem to go by, the medicines and equipment change here and there, but the routine of it all stays the same.

Honestly, it is quite daunting.

It seems we are always trying to find the perfectly shaped bandaid to cover whatever difficulty Sonzee is facing, yet each time I feel like we are living out a real life version of one of those arcade games where you have to hit the chipmunk as it pops out of the hole with the rubber mallet.  Each time we manage to get one chipmunk back down underground, sure enough, the next one is popping up.  Sometimes I am quick enough to smack the chipmunk head on, a good portion of the time I maybe nick the side, but the majority of the time I am completely off the mark as I hover wondering which of the holes the chipmunk will emerge from.

Last night while dinner was warming in the oven, I was finishing up with TPN preparation, my sister and her family were hanging out waiting for the rest of my family to come over for dinner, and Sonzee was in her ppod, when she started having a 19 min and 50-second seizure.  That was not her first seizure of the day either, however, it was her longest by 5 minutes.  I stood next to her videotaping for the 10 minutes the seizure tracker app allows me to record, sent an email asking them to consider expanding the length of videos that can be saved on the server, and waited next to her until the entire 19 minutes and 50 seconds had passed.  Then, as if this is normal, because it is our normal life continued with getting her washed down and dressed for her TPN connection, yet as usual, I was left wondering what kind of life is this for a child, why does she have to endure this, and when is enough, enough?

Undesirable Mess

My thoughts today have been all over the place, in fact, every other thought I have is contradicting itself, which isn't exactly helping me sort anything out.  I cannot pinpoint if there is one specific thing that is causing the chaos, but I am feeling a bit like a cranky overtired toddler who is trying to prove that it is not bedtime while falling asleep in a highchair crying.

I am trying to find positives in all the negative situations that Sonzee is dealing with and besides the fact that the task itself is exhausting, there is a part of me that does not want to find any positives.  I just want to wallow.  But I can't.  Or I should say, I shouldn't.  That isn't what I am supposed to do.  Those of us in this life are supposed to look at the good, and to feel/recognize/acknowledge that our children are gifts.  We are supposed to see the silver lining, or the bright side, and not get caught up in the dark hole tornado pulling us down.  We aren't supposed to focus on the negatives because it isn't healthy, because G-d is good.

But nothing about this life is actually healthy, and personally speaking, I don't know if it matters whether G-d is good.

There is nothing healthy about watching your child seize multiple times a day for a minimum of 15 minutes each time.  There is nothing healthy about having your child be fed into her intestines or via a central line going into her bloodstream because her stomach shut down years ago.  There is nothing healthy about giving your child non-FDA approved for her age grown man medication dosages that are equivalent to water in terms of how her body reacts to them.  There is nothing healthy about making life-altering choices and then wondering if those choices were, in fact, the "best" choice and or what would have happened if the other choice was made.

Like I said.  Nothing about this life is actually healthy.

So while I want to give myself a pep talk and throw some inspirational words on the screen and press "post", that isn't what is going to occur.  Today I am just going to honor the undesirable mess that was thrown at us 4 years ago after the spontaneous de novo CDKL5 mutation happened to occur at some point while Sonzee was in utero by letting myself grieve all that has been lost and will inevitably be lost as we continue on this journey.

Losing

Death.  It is something that happens entirely too often in our already small CDKL5 community.  Every year I find myself and other moms I am closer with saying, "this is a bad year".  In reality, I am pretty sure every year since Sonzee has been diagnosed has been "a bad year".  Just one loss is honestly too many, and we have yet to finish a full 365 with only one loss.  When the losses come back to back, weeks or months apart it is especially more difficult.  Each death shakes our entire CDKL5 family to the core.  We break for the child's family first and then we break for ourselves.

Age doesn't matter.  My heart aches for the families of the babies, of the toddlers, of the school-aged, of the teens, and of the adults.  I walk around wondering when will it be our turn to join #lifeaftercdkl5.  I wonder if it really is even life after CDKL5.  Does family life with CDKL5 actually end?  I know the day to day dealings do, but you can't exactly end the life you gain with a diagnosis of CDKL5.  CDKL5 will forever be part of our life. 

Today, Sonzee's CDKL5 sister Sadie was laid to rest, for some reason her loss seems to have sent a tsunami of a ripple into our close-knit family.  Maybe it is the fact that it was "unexpected", yet at the same time, was it?  Our children suffer daily, whether it's publicly shared or not.  If you have a child with CDKL5 you know this.  It sadly really isn't ever a surprise that it happens, it is just the punch when you find out who it ends up being.  I keep thinking that there isn't anything left of my heart to break, but then another loss is shared and a new crack begins.

It has been 4 years and 2 days since we were welcomed into this family.  A family that continues to grow yet continues to shrink simultaneously.  A family that honors those we have lost with bows, colors, words, gifts, letters, fundraisers, and the hope for a cure in their honor. Prior to 4 years and 2 days ago we weren't aware that there was even a potential of losing Sonzee at an increased risk to that of her siblings, yet now we seem to be reminded of that reality every single day.

Diagnosis Day for the 4th time

"2:30pm on Thursday, April 16.  We waited only 5 minutes for her to come in the room.  To tell us again they only tested 71 genes, to tell us Sonya's positive result was on CDKL5.  To tell us that with that positive result on this gene and her clinical presentation of seizures, she would most likely have: epileptic encephalopathy early infantile 2, x-linked infantile spasm syndrome, and or Atypical Retts Syndrome. 

We asked our questions, I left there with some odd reassurance that just because she had a mutation with her CDKL5 gene did not mean she would have any of the ugly possible disorders assigned to the gene. 

Then I went online and typed in those 5 seemingly innocent letters, that in combination are no better off than a death sentence to a parent of a 2 month old baby.  And it was at that moment that I realized, sometimes it is better to be blissfully ignorant...sometimes it is better to not have all the answers, to not know the why."  - Originally posted on April 19, 2015

4 years have passed since we were given an answer.  An answer that over the years has been used and honestly overly abused to explain why she has seizures, why her stomach doesn't work, why she requires feeds directly into her bloodstream, why her eyes make wonky movements, why she has cortical vision impairment, why she does not sit, why she does not talk, why she does not have functional use of her hands, why she has low tone, why she cannot run outside and play with her siblings, why she does not interact with others in a typical fashion, why she has poor bone mineralization, why she is failure to thrive, and why one day I will have to bury my daughter. 

I wish the diagnosis had explained why it had to be her, the best way to treat all of the problems it has brought into her life, and at the very least given her a voice to let us know if she agrees with our management decisions, how the medications make her feel, if we truly are giving her a better quality of life, if the procedures have been worth it, and if she wants us to keep doing what we are doing. 

I have found myself wondering over these past 4 years, what good has knowing the cause actually done for her?  We dove right in thinking knowing when she was 8 weeks old would actually make a difference for her.  We clung to the (few) children we saw crawling, walking, and saying words, whose parents said that intensive therapy is what made the difference.  I convinced myself that Sonzee was young enough, surely she could beat the odds.  Except over these past 4 years, I have learned that no amount of intensive therapies, money, will power or determination can compete with her specific mutation.  It's helped our family cope, but it hasn't healed our hearts.

While we have spent 4 years gaining an extended family that stretches around the entire world, we have mourned the loss of TOO MANY siblings.  We have spent 4 years knowing that there is no cure, that there is no specific medication or treatment that can replace her mutated CDKL5 gene, that there is no way to stop her intractable epilepsy, and that there is absolutely nothing we can do to ease any of this for her.  We have spent 4 years clinging to hope of what I am not even exactly sure, but I suppose hope that all of this will change?

Of all the answers that we were given on April 16, 2015, I wish one of them had been, the results of the infant and child epilepsy panel did not yield any results.

The day before Diagnosis Day

It was a Wednesday.  I cannot remember the exact time, but I remember walking around the house while on the phone picking up toys and putting things away.  I can tell you what rooms I was walking in and out of and where I was when the neurologist said the words, "we got results back from her genetic testing, but I don't want to tell you what they are over the phone.  I don't want you to look it up, and think that will be Sonya".  I remember when I hung up the phone I felt relief.  I was actually giddy with excitement because we had an answer.  We would never have to wonder why she was having seizures.

This was great news.

I quickly learned on this journey that everyone processes things at their own rate and in different ways.  When I told Sam that we were meeting the next day because she didn't want to tell us the results over the phone I didn't quite know what he was thinking.  It wasn't until a little later that day when he called me from a gas station that I got a glimpse into his mind.  "Randi, it isn't good", was what he said when I answered the phone.  I was not even sure what he was talking about, but he continued on to say, "I looked up the panel, and there is only one good thing, and she doesn't have it".  I said, "Sam, you don't even know what you are looking up, it is going to be fine, we will have our answer tomorrow, stop looking things up."

I honestly was so content with knowing we had an answer it never dawned on me to even look up the panel.  Not once during the 3 weeks since that test was sent off did I even consider what was actually being tested.  I guess I was not always as neurotic, worried, or as pessimistic as I have become. When I think about that fact, I realize how much I have changed in 4 years.  4 years ago today even though I knew we had an answer, I still had no idea what that answer was going to lead to and what was going to be in store for our family.  4 years ago today, we were a little on edge, but still BLISSFULLY unaware of all the pain, all the surprises, all of everything that the characters CDKL5 was going to bring into our lives, and a lot of the time, I wish I could back.

Fate Sealed...

On March 17, 2015 during her first PEMU stay we agreed to send off lab work for genetic testing.  When the neurologist brought up the suggestion stating it was to rule out genetic causes of epilepsy, I shrugged my shoulders in a cocky manner because Sam and I had genetic testing done through a reproductive endocrinologist prior to any pregnancy, and everything as far as genetic compatibility went, checked out great.  Of course, in my mind, Sonzee didn't have anything genetic, how could she?  On March 26, 2015, the lab received her sample and began to compare her genetics to that of 187 genes associated with causes of epilepsy.  Life for us carried on, but oh, how naive I truly was.

4 years ago yesterday the report was sent to the hospitalist at Phoenix Children's Hospital.  Theoretically, her fate was sealed with that fax, but really it was always present; before I even knew I was pregnant, the entire 9 months I carried her, and for those first few weeks of her life during every questionable movement that was attributed to "baby's do weird things". Who would have even considered a genetic mutation for epilepsy?  Who knew such a thing existed, especially with no family history?  I honestly didn't even think about the potential positive result phone call, thinking back I don't even remember thinking about the tests after they were sent off.  While there was "no reason" for her epilepsy, that was "okay", it meant she could grow out of it, and that's what we wanted, that's what we hoped for, but that is not what we got.

4 years ago today, the hospitalist who sent for the testing electronically signed that she received this document.  I wonder if she had even heard of CDKL5 before this was placed on her desk.  I know when her neurologist at that time received the result she had not.  We remained blissfully unaware of what was sitting less than 5 miles away for another 4 days until her neurologist called to let me know she received results.  I wish I could remember life before seizures, before hospitalizations, before real worries and fears, before life with CDKL5 became our world and our normal.  I wish I could remember what I was like as a parent before our lives became consumed with all things CDKL5, before my naivety of the medical world was stolen from me, and essentially before her fate was signed, sealed, and delivered on a faxed piece of 8 x 11 paper to a doctor we hardly knew.

11 days

I thought possibly as time went on that I would get over it, maybe even get used to it, or that it would become easier.  It didn't, it hasn't, and I realize it won't.  At 9am this morning I had already given Sonzee a loading dose of Keppra and while that broke the cluster of spasms she had been having for 20 minutes, an hour and a half later she had another 11-minute seizure.  This is just part of the severe form of intractable epilepsy that comes with CDKL5.  I sometimes wonder what good it is to have received her CDKL5 diagnosis when all it is did was bring us a reason as to why she was having seizures, but no solution on how to make it end.

11 days now remain until the anniversary of diagnosis day, yet not a day has gone by since the official day that I don't have some type of flashback or vivid memory of that specific day.  I suppose the day doesn't even need to be acknowledged on its own because we live the representation of CDKL5 every single day.  For some reason, though I cannot get over the significance of that day.  I have the quote "what a difference a day makes" written above significant happier dates our family has experienced and inside a frame in the playroom.  I wonder about the difference we would be experiencing had April 16, 2015 not lead us to the knowledge of CDKL5.

13 days

On Saturday night Sonzee had one of her typical 15-minute seizures.  Her oldest sister sat down next to her completely unprompted and began stroking her head.  When I got the seizure tracker app open the video being captured was just so sweet that for a split second I could almost forget the reason behind the comforting.  I was not really thinking about much at the time besides that I needed to finish getting Sonzee's TPN ready, and then the silence was broken by an innocent 9-year-old asking if one of Sonzee's CDKL5 siblings walks. 

For the next 13 min and 59 seconds, my oldest continued to ask about the skillset of this other CDKL5 child and then spoke about another CDKL5 sibling who had passed who would have been her age and in her grade.  During the entire conversational exchange, she rubbed Sonzee's arm, her head, and was talking to her.  At one point she explained to Sonzee that she has seizures at the worst time because she made her siblings late to school last week.  From one perspective it was as if she was just chatting with her sister over breakfast, yet the reality was that her sister was actively seizing.
I sent the video to the mom of one of the children my oldest was referring to during the conversation and she replied "okay I am going to ignore the fact that the video is actually of a long seizure and tell you that it is good...[oldest sister] is too too aware though, it really breaks your heart". 

As we continue with 13 days remaining until Sonzee's diagnosis day anniversary, it is even more striking to me how much a diagnosis of CDKL5 effects not just the child, but the entire family.  April 16, 2015, was not just the beginning of Sonya's Story, it really was the start of a new chapter for every single member of our family that forever changed, and in some cases completely reshaped and shifted the trajectory for each of our individual lives.  While I know the positive traits our children are likely to gain because of such a diagnosis, a lot of the experiences they have to endure continuously break my heart.

Heartbreak again...

We got home from a wedding not too long ago and everyone dropped like flies right into bed after their showers.  That is everyone but me.  Sonzee needed her food refilled and her TPN started, so after I took care of that I came to my computer and thought about writing a blog post.  I was clicking through the years tab on the side of my screen to see how many posts I wrote in March over the years since I began blogging and then it dawned on me that in 30 minutes it will become April.  My heart skipped a beat at this realization and that pesky weight in my chest that I manage to push aside resurfaced.  It means in just 15 days it will have been 4 years since we first heard about CDKL5. 

Diagnosis Day, is probably one of my least favorite days of the year.  It is one of those anniversaries that I feel requires celebration, but yet it is a day I feel should never be honored.  Such a mixed bag of emotions.  I often wonder how it becomes April so quickly each year.  As if 365 days manage to literally speed by just to reach April 16.  It is one of those days like the birth of a child or Kindergarten graduation that you remember every detail as if it just happened yesterday.   A profound day in Sonzee's journey as well as our lives that gave us answers and a weird sense of closure yet at the same time an introduction into a world full of uncertainty, fear, and heartache that we had no idea existed. 

4 years ago we had no idea about the world that would soon be introduced to us.  A world that was existing concurrently but yet completely oblivious to our family.  A world where children were dealing with challenges we would never have even considered children would be forced to live with.  And a world where parents were making decisions that no parent should ever have to consider.  A world that I never dreamed existed because you don't even consider this sort of world will reveal itself to you or your family. 

I think about the 4 years that have gone by and I cannot even imagine what life was like without our knowledge of CDKL5.  Just 4 years ago we were strangers to the world we now only know as our world.  A world that once spoke a foreign language but yet is now the only language we understand.  A world that we couldn't comprehend and we weren't sure where we quite fit in, but yet the only world we now feel comfortable and understood.  A world where the bonds we make with others on the same or similar journey will far surpass those that could ever be created between those who can't imagine. 

Prior to April 16, 2015, I couldn't imagine, rather didn't want to imagine what CDKL5 was, or how a parent could parent a child diagnosed with something as challenging and horrific.  Yet, here I am, and here we are just 15 days away from the day that changed our lives forever.  While I feel grateful we didn't have to wait long to get our answer, I am still just as devastated, just as clueless, and just as broken as I was sitting in the car reading the list of items Sonzee most probably wouldn't do in her lifetime, because sadly...for us...for her...it was all true.