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

Monday, May 20, 2019

4 years and 2 days ago

If you have followed Sonya's Story long enough then you are aware that when I am in need of inspiration or unsure of what I want to write I will read back on previous blog posts.  I typically look back to the same month but different year to see what post I wrote exactly on that day.  So last night I  opened the archives of May 2015 and glanced at each post from the end of the month towards the front.  I saw the title Dear Sonya and since I couldn't remember what I wrote in that letter, I opened it, I read it, and since multitasking is my thing, I cried.  It is fascinating to me that 4 years and 2 days later those exact words would be the same words I would write to her in a letter today.  The pain is the same, the dreams and desires are the same, and the fears are the same. 

4 years and 2 days later the same is true about her doting siblings, except there is one none of us ever met and another one who competes to be her biggest fan.  We have continued to do our best to ensure her quality of life leads every decision we make.  While we have found our secret language with each other it does continue to be a daily struggle making sure we are really honoring everything she wants and not our assumptions.  I feel fairly confident that we are living up to exhausting all medical interventions to help make her life easier.  I wish we could say that we found a way to make the seizures stop, we haven't, however, we have done our absolute best to stick to our promise to not medicate her personality away. 4 years and 2 days later we are still filled with the same doubt, same questions, and same exact sorrow.

The letter is a reminder of all that we lost when we were told of the mutation on her CDKL5 gene.  It is the realization that the time on this journey continues to pass us by, but not much else has changed.  We still pray for the same exact outcomes that we did 4 years and 2 days ago, but the naivety is no longer present, the belief in hope not as strong, and each day is a fight from within to remind myself that we are doing our best, that we aren't failing her, and that "It is not going to be easy, it is going to be a tough road, some days will be a struggle, but WE ARE GOING TO MAKE IT."

The Mighty Contributor

Friday, May 17, 2019

Muddled thoughts

I started to write a post the other night after I came across a picture of a child younger than Sonzee diagnosed with CDKL5 who was sitting.  I couldn't shake the feeling that came over me, so I opened up blogger and scribbled down my thoughts.  In summary, it was happiness panged with being envious that Sonzee's mutation was not affording her the same capabilities.  Naturally, life got in the way so I have not had a chance to finish those initial thoughts.  Then today, completely unexpectedly, it was me witnessing and then posting a video with 13 seconds of my child with CDKL5 sitting.  It wasn't pretty, it wasn't the way any of my typical children began to practice when they were 5-7 months old.  She was completely wobbling, her body awareness was completely off, she required multiple touch cues, and she fell over every single attempt, BUT she sat.

I hesitated about posting it, even though it is only 13 seconds, it is 13 seconds longer than so many children diagnosed with CDKL5 or other various causes to their medical complexity have been able to do.  While it by no means can count as hitting the milestone, I am feeling a pang of milestone guilt for the other mother's who have not experienced these 13 seconds.  I still cannot leave her on the floor to play, sit alone on a couch, put her in a shopping cart, or place her in any other situation that the majority of parents of 6-8 month children get to celebrate doing, it is 13 seconds longer than I expected at this point in her life, and 13 seconds longer than some of my special needs mommy friends haven't been afforded. 

4 years into this life and I feel like I am still figuring out how to make it all work.  The desire to celebrate milestones met by our children's friends, yet silently mourning the fact that our child can't or won't meet them.  The desire to want to celebrate our child's accomplishments without making another parent cry themselves to sleep because of it.  The doubt we feel about what we are doing to support our child when another parent says all that he or she has their child participating in.  The wondering if what we are doing is ever enough.  The confusion of if our choices are right or wrong, and if those choices are the causes of the negative outcomes that ensueAnd the ever-present, always lurking question of despite what we may or may not have our child try, despite them ever officially meeting any standard milestone, does everything we do at least add up to a desired quality of life. 


The Mighty Contributor

Sunday, May 12, 2019

It's been 4 years....

It's been 4 years and yet I was caught off guard on Friday.  I would like to say this is rare for me, but for some reason this past week, I have been experiencing all sorts of whacked out crazy sensitivities and emotions.  Maybe it is the accumulated exhaustion of participating in this journey over the last 4 years?  Maybe it is the fact that I prefer to not deal with a lot of my emotions because I tend to write a blog post about how I am feeling in that moment, press post, and then move on.  More often than not that way of living has seemed to work best.  But then there are those moments, like Friday where three concepts slammed into me at full force despite the fact that I have dealt with them multiple times over the last 4 years.

It became extremely clear to me on Friday that I am not over Sonzee receiving her CDKL5 diagnosis.  So for those of you just starting out, 1 year, 2 years, 3 years, 4 years or even more into hearing the string of characters "CDKL5" it is completely normal if you have yet to accept its fate or if today it is just clicking what it might actually mean.  As I sat with Sonzee's epileptologist and she answered the same exact questions I have asked every PEMU stay since 2015, on Friday, it clicked.  Even if we gain some sort of control of her seizures, which we all agree she most likely won't ever be seizure free nor will she likely ever be 90%, it won't change her background and it won't change the fact that CDKL5 is the reason she is able to do what she can and not able to be typical.

This led me into the 2nd revelation; the one where it becomes clear that even though I don't speak the words and I don't put much faith into it, somewhere in my soul I still believe there is hope for her, because it is during moments where I feel the wall slam into me at 500 miles per hour that I realize the slamming feeling is because I was obviously holding onto some sort of hope.  The hope that maybe one of these PEMU stays it will reveal she does not have an abnormal EEG background.   The hope that one of these PEMU stays will reveal she isn't seizing unless we notice and hit the red seizure button.  The hope that one of these days she will wake up and be typical.

Which led me to the final revelation that we are never going to fix her.  We appreciate who she is, we love her the way she is, but honestly, if you told me a specific amount of money would make her be able to become a typical child, I would pay it plus a tip.  I do not know why all these 3 items became clear on Friday.  I have heard the answers before, I am sure of it, and I do not know why, but for some reason, it all clicked and since then it has been weighing me down like a ton of bricks.  I am having an extremely difficult time comprehending that nothing we do for her will ever make her better.  No medication is going to stop her seizures, no medication is going to clear up her background, and no medication is going to fix her...but for some reason knowing this we still cycle through medicine cabinet trying to find the answer....and it's been 4 years.

The Mighty Contributor

Thursday, May 9, 2019

Sacrifice

Last night our middle daughter was calling for Sam at bedtime because she was waiting for him to read her a book.  I was getting Sonzee's TPN supplies put away, giving her meds, and getting her ready for bed.  I let our daughter know he would be there in a minute.  During the time she was waiting, the other two elders called for him as well.  It doesn't make me angry that this has become the norm, it just is how it is.  But the moment flashed a memory in my mind of a time, that seems to be from a completely different life, but was just a few years ago.

There used to be a time that bedtime took hours because each child chose a minimum of 2 books and both Sam and I took turns going from bedroom to bedroom.  There was tickle time, laughter, talking, and books.  There was "Emmmmaaaa" being called and I was the one who cuddled next to each of them and endured the 2-hour long ordeal.  Sam and I joked about the length of time it took but also felt it was so ridiculous....I think about it now and cock my head to the side as the word perspective flashes brightly in my mind.

Since February 11, 2015, bedtime routine has never been the same.  Children certainly adapt to the situations they are presented, but it comes at a cost, and the price in this situation was their ability to rely on my presence.  In the beginning, it was hard on all of us, then at some point during all the hospitalizations, it became their norm, but for me, remains a constant heartache.  Each night when they ask for that extra kiss from Sam, for him to read the book, or for him to come back in, it is a reminder of all the nights I haven't (and won't) be there, and for the sacrifices that come living the medically complex life.


The Mighty Contributor

Monday, May 6, 2019

Rerun

We are more than halfway finished with weaning one of Sonzee's seizure meds.  There is always the initial joy of watching skills return to her that we had somehow forgotten she once had, then there is the brief, but still, present sorrow that presents itself when we realize our choice of medicine is the reason the skills were put on hold.  Pair that with the fact that her seizure presentation was not significantly reduced or impacted by the medication, and knowing that our PEMU stay is going to present another medication as the (what is most certainly not going to be a) solution, and well, that continues to be Sonya's story.

This cycle of repetitious history you would think would make us wiser or at least pave the way to a clearer outcome, but for some reason, our continuous game of groundhog day meets real life is not changing.  Then there is the worst part that we somehow forgot happens when Sonzee is in a medication fog and it becomes temporarily lifted, her endless battle with her GI system.  The whimpering and pain that had seemed to subside, that we were optimistically thinking her gut rest had aided seem to be popping back up here and there.  The Aha moment always catches me off guard, takes me a day or two to actually realize I am entertaining and then smacks into me like a ton of bricks.  The question presents itself, "Was the gut rest and TPN the answer to her pain, or was the increase in her seizure medication masking her ability to process it?".  This answer, like every other one that is asked that would require her to be able to give us the answer, will always remain one of those unknowns.

The potential defeat that would come if the answer is the medication was masking her response to the pain will be so soul-crushing I am not yet at a place to fully even entertain it.  The potential disappointment that would follow if the answer is that the solution was yet again another failed bandaid will just be completely deflating.  Either way, the situation remains "wait and see", the question will soon enough become, "now what? ", and the answer will be whatever is feeling best for us to do for her at that time.

The Mighty Contributor

Wednesday, May 1, 2019

Humbled

She had two of her long seizures and too many of her cluster seizures to count.  She spent her day awake, wringing her hands, clapping, pushing her glasses off of her face, and content.  She didn't cry in pain at all and she not only stood in her gait trainer, something she has not been afforded the opportunity since the fall, she also took multiple steps.  She was proud of herself, you could see a smirk across her mouth, a look of satisfaction in her eyes, and just sheer joy come over her entire face. Her ability to literally make the best and most of her days, albeit her brain misfiring for over 25 minutes a day has me sipping my coffee in complete admiration as I'm reflecting on what she endures daily.

As her mom, I over analyze every minute of her life in general, but it wasn't until I was staring at her seizing awake from her sleep at 10:45pm that I truly comprehended how incredible of a human being she really is.  I readjusted her pulse oximeter while she seized, her values thankfully staying stable, and I was filled with this feeling of heartbrokenness mixed with complete awe.  Just hours before, we were challenging her fragile, and I am sure exhausted body, to do things the majority of us haven't had to think about doing since we were between 12-24 months old.  She rose to that challenge, she smashed the ball out of the park and gave me renewed faith in her desires.  Then she participated in a girls only dance party after dinner and didn't complain when we didn't move her into her room until after her typical bedtime.  Now here she was convulsively shaking, her limbs contorting, her mouth quivering, her eyes rolling all over, her head thrusting forward and then abruptly pulling back, and this is what she does all the time.  This is her life.

During these moments when I am reminded that her life is not about me or my feelings, or how hard watching her go through it all is, or what her missed milestones mean for me; I feel this overwhelming sense of pride and adoration towards her my heart could physically burst.  I always suspected she would bring me similar joy and delight as her siblings, but I was not sure what it would look like.  I now know that there is nothing that could make me a prouder parent than watching her literally fight to give herself a self-determined quality of life on a daily basis.  For this, I will forever be humbled.

The Mighty Contributor

Monday, April 29, 2019

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?


The Mighty Contributor

Tuesday, April 23, 2019

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.


The Mighty Contributor

Thursday, April 18, 2019

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.


The Mighty Contributor

Tuesday, April 16, 2019

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 Mighty Contributor

Monday, April 15, 2019

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.


The Mighty Contributor

Thursday, April 11, 2019

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.



The Mighty Contributor

Friday, April 5, 2019

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.

The Mighty Contributor

Wednesday, April 3, 2019

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.

The Mighty Contributor

Monday, April 1, 2019

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.


The Mighty Contributor

Wednesday, March 27, 2019

3 years 17 days

It is 10:19pm on Tuesday night, Sam is on the couch, I am at my desk, and the only sounds we hear are the cat water fountain and the low hum from the oven.  As I pre-set the oven temperature to 350 and sprayed the aluminum trays with pam, I told Sam it has been 3 years since I started this tradition.  The tradition of baking cookies for the interventional radiology department at Phoenix Children's Hospital.  After (the first) perfect storm hit her little body, it was decided that Sonzee would have a PEG tube placed on March 10, 2016.   

I remember the day like it was yesterday. After her initial g-tube surgery placement pre-operation situation about 10 days prior turned into an epic failure, we were back for a slightly different procedure with a different team of doctors that would ultimately result in the same outcome; a feeding tube into her stomach.  I walked in with baggies of cookies, thank you cards, and Sonya's Story awareness cards.  As I handed the baggies to the doctors and staff, I half-jokingly said, "Here you go, these are please don't kill my daughter cookies".  I remember the half smile half shocked look on their faces when I said those words aloud.  Sam and I both gave a semi smile and little chuckle, but said, "No, but seriously, the last time we came to the 4th floor and she was going to have surgery for the gtube, someone/something almost killed her". 

Over the last 3 years and 17 days, the cookie bringing tradition continues to be strong.  At a minimum, every 3 months we find ourselves back among the familiar smiling faces who handled Sonzee with great care when she was just one year old.  One of the only nurses to ever be able to start an IV for Sonzee on the first try is in the IR department.  From PICC lines, to multiple NJ tubes, to GJ tubes, and other procedures as well, they have been there for her during some of her worst times.  We see the doctors and nurses in the back halls or while we wait in the waiting area when she is admitted and she is in other procedures.  Every single one of them stops and talks to us and asks how Sonzee and the family are doing.  For all of great times, not so great, and the times in between, we are so grateful to the IR department and I truly hope the gesture of cookies that began 3 years and 17 days ago adequately conveys our gratitude for the way they take care of our Sonzee bear. 

The Mighty Contributor

Monday, March 25, 2019

"just normal"

Yesterday I was fortunate enough to be able to spend part of the afternoon with moms.  When I initially typed that sentence I inserted the words "amazing" and "incredible" prior to the word "moms".  After erasing each of those words, I then wrote "medical" and erased that word as well. Yes, these women were all of those words (and more), but the reality is, while they are moms of a medically complex child (or two), the reason this blog post is dedicated to my time with them, and this specific event with them, is because while what brought us together is the similar but different journeys our children have taken us on, the best part was that we were able to be "mom's just hanging out".

I spent a good portion of my time in awe of the situation and I spent a lot of silent driving time afterward processing it all.  Each mom represented a different part of the journey we all are living.  Each mom on her own individual journey yet in this one place she was among a mom who gets it.  A mom who even though she may have just met, allows her to say the thoughts that she would never be able to say to others.  A mom who doesn't feel pity or sorrow for what the other might be experiencing and who you know truly gets everything that is coming out of your mouth.  A mom who isn't trying to sugar coat the words being said or making you wonder how she might handle what you are going to say.

It was a completely surreal situation to be out in a public place, laughing through serious conversations, and having what some might call taboo discussions as if we were just moms hanging out following our child's music class.  I didn't feel like an inspiration or amazing or incredible or any other descriptive word that this group might be perceived by to others.  I felt like I was a child on his/her first day of school wanting to run home and tell everyone about my day and how many new friends I had just made.  For the first time while on this journey, I felt a sense of weightlessness.  I felt a place I belonged but most of all what I felt was really just normal. 




The Mighty Contributor

Tuesday, March 19, 2019

Innocence

From the very beginning of Sonzee's life, Sam and I have always been very open with her siblings about everything going on.  It would have been extremely challenging to not be when from the start I did not come home the first week after she was born because the hospital allowed me to stay in an unused portion of the maternity ward while she remained in the NICU.  Then just a few weeks later we found ourselves taking Sonzee to the pediatric hospital where her seizures were confirmed.  The hospital staff made an adorable epilepsy bear, complete with the EEG leads, gauze, and colored string so that our then 5-year-old, 4-year-old, and 21.5-month-old would not be scared to see her when they came to visit.  We did our best to answer their questions in age-appropriate ways and when they left us stumped or after I winged an answer, I would refer to child life to help me out and or let me know if I answered them appropriately.

During one of Sonzee's lengthy stays when she was 15 months old, her oldest sister did not want to visit her.  We respected her decision but always gave her the option every day.  It is a tough place to be as a parent because there is a fine line of reality and the black and white fact that any of the hospitalizations could be one way.  I was so worried that Sonzee was not going to leave and then her sister (who is extremely close to her) would feel this unnecessary guilt for not visiting.  But how exactly do you explain to a young child that her sister might not leave the hospital without causing nightmares and unnecessary fears?  When you become a parent, who even thinks of this under their list of top 10 potential parenting dilemmas?

As Sonzee has gotten older, the hospitalizations have become so routine, her siblings get disappointed, more than anything else, that the family will be split until she returns home.  They do not really understand or grasp the severity of what us taking Sonzee into the ER really means.  I think I am okay with that in general, after all, her siblings are now only 9, 7, 5, and 1, they should remain children as LONG as they can be, as long as every other child does.  But their life is not like that of every other child, there are just sad realities that come with this life.  Even though our children see Sonzee's daily struggles and know there are children "like Sonzee" who have passed away and have even met siblings of those children, they are still very much children, and still very much innocent.

There is a part of me that is relieved this is the case, and then there is a part of me that hurts because at some point in their lives it will make reality more heartbreaking.  On Sunday my oldest son asked how Sonzee would give herself medicine when she is older.  I let him know that she would not be able to live alone and that someone would be doing her medicine for her.  He took a second to process what I said and then inquisitively stated, "oh, she won't?".  To which my oldest daughter happily replied that she is going to be taking care of her, and she will be living with her.   My mind simultaneously gracious at the offer seriously wondered if I wanted her to put her life aside to even take that on.  Then my middle daughter interrupted that thought to ask how Sonzee was going to have a baby, and I let her know that she would not be having a baby.  My then oldest daughter paused for a second and with a surprised reaction said, "oh she isn't? well, then how is she going to be a mom?". I took a second to process where this conversation had just gone and simply replied that she will not be able to be one and then I asked them to make sure everything was cleaned up before we headed out to afternoon activities.


I texted two of my go-to's for these types of conversations and I mentioned that what broke me more than anything is that they really do not even comprehend what the most likely reality is going to be.  I have honestly not even thought far enough ahead to have even considered Sonzee as an adult.  I know there are many parents who might disagree with my thoughts, but at least once a month I post a prayer request for a family who has to bury their CHILD.  It is a reality that accompanies our life.  Whether I say it aloud or not, it does not change the facts of Sonzee being medically complex and that her body is unable to function in a typical fashion.  Yet, to be brutally honest, the most challenging part of this reality for me to wrap my mind around, is how this eventual inevitable outcome will affect my other children.  


The Mighty Contributor

Friday, March 15, 2019

Butterfly Effect

While I don't regret any decision that we have made for Sonzee, I do often wonder how a different one could have maybe, possibly, affected her presentation with CDKL5.  Deep down I know that really the impact of severity lies mainly in how the mutation itself blends within her body, but it doesn't stop me wondering about "what if".  The challenge I have with "what if" is far back do I go?  Where exactly does my one small change begin? 

While the obvious choice would seem to go back to around the time her mutation occurred, for this specific exercise it isn't the ideal choice.  I need her to have the mutation in order for me to let this alternative "choose your adventure" book to unfold.  With the intention clearly outlined I would go back to our headstrong desire to wean Topamax.  The drug that we understood only afterward was also referred to as "dope-a-max".  The drug that we also learned mid-wean in some children can actually keep the brain activity clear of hypsarrthymia.  The one diagnosis we prayed she would never receive because that would mean she fell victim to x-linked dominant infantile spasm syndrome-2.  That diagnosis was listed on the right side column of her genetic report that I had specifically asked her doctor if that meant she would have.  The one that her doctor replied to with, "I would like to think not", and yet, we knew she had at least 50% chance of developing due to the fact that CDKL5 is an early infantile epileptic encephalopathy-2. 

Had we never weaned Topamax would her EEG background never have developed into hypsarrythmia?  So many spirals down the rabbit hole came from that one diagnosis.  Would she have gained more skills vs the regression that we never noticed until we looked back on pictures of the skills we had forgotten she once acquired?  Alternatively, would she have never emerged from the fog that we didn't realize she was in due to that same drug? 

Even though it practically went hand in hand with the date of her last dose and when her background shifted, I suppose we could say she was bound to get hypsarrythmia regardless?  Maybe it wouldn't have mattered what we did because she was meant to be the 50% to keep the statistic what it is?  I really do not regret our decision to wean Topamax, we did the best we could with the information we had at the time, and I will chant that mantra for the rest of my life.  But I would definitely love to know if we would still have the same Sonzee and the same outcome of her EEG background with just having gone through a slightly different journey

The Mighty Contributor

Wednesday, March 13, 2019

Going back

I can remember when Sonzee was newly diagnosed and my biggest fears were of her never meeting milestones.  If you had asked the me of four years ago I would have told you that I would love for her to be sitting at a year, but realistically it would probably happen closer to three and maybe even not until she was five.  I told myself I wanted her to crawl before she walked because it was clearly a developmentally necessary milestone for typical children.  If you spoke to me in person during her first year of life I was more preoccupied with her physical capabilities and what potential damage the antiepileptic drugs were doing to her little body that were negatively impacting her physical progress.

Recently someone asked me if Sonzee was more alert than she was as a baby? If I felt that her early exposure to water therapy and physical therapy made a difference.  It was one of those times that I responded and felt sorry that my answer was not going to be offering the traditional hope this parent was seeking.  I know one day they too will come to a point in their child's journey where a sense of calmness over the outcome will blanket them and my response will feel more of a comfort than a slap across the face.  I wanted to give more with my response, but I knew it wasn't the right time, so I just stuck with the facts and "cushioned" it with Sonzee is more severely affected by her mutation.

I wish I could sugar coat the journey of CDKL5 for those who are just now starting out.  I wish I could go back to the me of four years ago and stand in front of the teary-eyed mom wondering where we would be four years from now and let her know that the journey is going to be hell and the line items of priorities are going to take her by surprise.  I wish I could tell her to not waste those precious first years worrying about whether Sonzee was going to sit, crawl, or walk.  I wish I could tell her that she is going to be faced with actual life or death situations and it won't matter if she is sitting or walking when the real serious choices are being made.  I wish I could warn her that what she is about to endure will leave more holes in her heart then she will ever be able to close.  I would let her know that her views on people and situations will change but she will find a safety zone where she can say and feel what is on her mind and know she is truly not being judged.  I wish I could go back to the me of four years ago and tell her that she better buckle up, because this roller coaster is going off the track, and it doesn't matter if Sonzee is sitting on her own on the floor or being fully supported in a 5 point harness...just be grateful for every day she is still sitting next to you.


The Mighty Contributor

Thursday, March 7, 2019

Empty horse

Last week one of the organizations we are part of sent out an e-mail about Legoland and Sealife aquarium tickets for yesterday.  I mentioned to Sam about it and asked him if it would be doable with our son's hockey schedule.  He said it would be too close with the times, but he would take him on a date to the Coyote's game that was happening Tuesday and I could take the girls.  Since Wednesday's are one of the days I work we already have a babysitter in the house for our youngest.  Perfect.  Done.

When I registered the girls and myself I hovered over Sonzee's name, debating in my mind whether I should bring her as well.  After all, it was a girls date.  Then my mind said, "Randi, she will hang out with nurse Karen, it is a big girls date."  I still felt a little bit of guilt, but that spot that resides in the bottom of my stomach during situations like this knew it was best for her to stay at home.  It is where she is most comfortable, it is where she will enjoy herself, it is where she would rather be.  Right?  Am I making that up?  Are those actual facts?  I can rationalize anything, you are talking to the person who justifies her daily lattes by saying the milk counts as necessary proteins.  So am I just telling myself things to make myself feel better for not choosing to bring her?

As we went on the first ride together I was feeling confident with my decision.  The choice was shortly confirmed as the girls were running all around the play area, knowing Sonzee would just be sitting in her wheelchair breathing in an almost certain trip to the ER.  We went to see a 3D movie and I was silently patting myself on the back at this point for making this a big girl date.  While we were walking around the girls mentioned that it was a girls date so we were missing Sonzee, but I reassured them she was having fun at home and it was a big girls date. We then went over to the aquarium where the girls played in the touch tank and crawled into the glass bubble domes to stand up and look at the fish from different angles.  This was definitely a "mom win" in my book of decisions, surely Sonzee was having a much better time at home in her P-Pod.

To close out the evening we ate our dinner that we brought to the food court to make the date official, and the girls asked to go on the Merry-Go-Round.  That is when the unexpected punch came out of nowhere...or was it just waiting in hiding for the right moment?  The girls each picked a horse separated by one bunny eared horse in the middle.  It took one rotation for me to feel the whiplash. I wonder what made them not choose that horse and sandwich it in?  This picture doesn't do the reality justice, if you look closely you can see the ears at the back of Sonzee's older sister in the blue shirt; I took at least six pictures to try and catch the moment.  The big girls truly in the moment enjoying their date, the rare non-traditional horse sitting empty between them both.  The empty horse that should have had an occupant.  The empty horse that to others would just be another empty horse like every other unoccupied horse yet really holds a place for a sister that won't ever get to experience the big girl dates, the childhood joy of a merry-go-round, and what it is like to just be a kid.  The empty horse flashing me forward into an inevitable future physical reality and grounding me in the current factual but justified reality of what is best for her.


The Mighty Contributor

Friday, March 1, 2019

CDKL5 Family

Yesterday was Rare disease day and one of Sonzee's CDKL5 sibling's mother created this amazing slide show of some of our kiddos.  I saw it posted in the afternoon on our parent page, but did not watch it.  I saw I was tagged in something on my wall in the evening, and when I saw it was the video I decided to wait until later on to sit down and watch it.  I knew from the minute I hit play that it was going to be something that would cause tears to well up in my eyes.  To begin with, I have zero ability to control any of my emotions at night, I am beyond exhausted to the point where my eyes actually hurt and can hardly remain open, and it is just what happens to me when it comes to slide shows.  At 10:23pm I decided to press play and let me tell you, my intuition about the tears was spot on, and as I listened to the lyrics paired with all of the pictures, I had such chills run through my body.

She could not have picked a better song to accompany the faces of our beautiful children and to solidify how we have become a family simply because our children brought each and every one of us together.  We have others who "get us", who "understand" on a level that honestly no one else possibly can, and who are there for us on days we need to randomly vent about insurance, celebrate the inchstones, or cry with during the more devastating and challenging times. 

The day Sonzee received her diagnosis I went to the Internet and reached out to anyone that popped up in the search results of "CDKL5".  We were given a 5 character string that answered the easy questions, the why she wasn't developing typically or why she was seizing.  But the real questions were answered and are still being answered by the parents of the faces in the video.  The same day we were given a piece of a paper that said "CDKL5" was also the day we were given an entire extended family.  There is a connection between us all that has no adequate words to give it justice and no matter where any of our children's stories take us, I hope every parent with a child diagnosed with CDKL5 knows to "Just stay strong, cause you know I'm here for you."


The Mighty Contributor

Thursday, February 28, 2019

CDKL5 Rare



I sat at my computer last night trying to figure out what I wanted to convey today being that it is Rare Disease Day.  According to Merriam-Webster, rare is an adjective that means "seldom occurring, or found: uncommon; marked by unusual quality, merit, or appeal: distinctive; Superlative or extreme of its kind. Then the quote by Dr. Seuss popped into my mind, "why fit in when you were born to stand out" and the thoughts in my mind began to get jumbled and that feeling that tends to reside in my heart was a little more noticeable.  

In 2004 the CDKL5 gene was first identified, and it was originally known as STK9.  By 2015, the year we began this whole excursion down this funfilled path of what it means to be rare, there were approximately 600-1000 children diagnosed worldwide with a CDKL5 mutation.    At that time it was a brand new baby in terms of scientific studying.  Information regarding the prevalence and occurrence was hard to come by.  Research and another 4 years has led to more awareness and more diagnosed children.  Although rare, the occurrence is believed to be ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy.  Currently, there are two children diagnosed with CDKL5 each week.

I need to take a moment myself to swallow that statistic.  That means this week there are two more seemingly healthy babies who will begin seizing before they are officially considered developmentally behind for not presenting with a social smile.  That means there are two more sets of families who will have their entire world flipped upside down in a way they are never going to fully ever comprehend.  That means this week two more families will find themselves on an unknown journey that they never even knew was a possibility to embark on.  That means our CDKL5 family is growing, but it also means that eventually, that is another family that will one day have to face a life without their precious child.

What exactly does it mean to be rare? It means to me as a parent there is a responsibility to try and make this statistic look a little different in another 4 years.  It means that we need to continue to raise awareness and get more potential life-altering remedies so that these two children who are diagnosed each week will begin to hear the words, "your child has CDKL5, BUT this is what we can do to help".  It means that we need to spread awareness so that ALL the children currently living with CDKL5 are given the BEST QUALITY OF LIFE POSSIBLE.  It means that we need to spread awareness so those children with CDKL5 mutations whose bodies had suffered too many seizures among other difficulties did not leave this world in vain.  

So today, for all of the children diagnosed with CDKL5 and for those who will be tomorrow, show you care, and spread what you know about rare...who knows, maybe one day (soon) we will look back on this moment in 2019 "when CDKL5 was once known as rare".


The Mighty Contributor

Monday, February 25, 2019

Keep on moving

3 years 5 months and 11 days ago Sam and I made the "controversial" decision to start our then 7-month-old baby Sonzee on her first dose of CBD oil.  I remember giving her the oil via a dropper into her mouth under her tongue a couple of times a day, and especially while she slept.  I remember the fear of dosing her incorrectly, the initial skepticism over whether it would work, and the curiosity of whether it would actually work for her.  I remember being cautiously optimistic, but at the same time, there was a very large part of me waiting behind the scenes to pull the cord that sent the room into a full-blown celebration when it would be the answer, HER answer.  I remember the initial feeling of defeat when that was not the outcome, HER outcome.

Over the course of 2 years, she would try multiple brands of oils, pastes, and types.  After each unsuccessful attempt, we were hit with mixed emotions.  Was it the brands we were choosing? Was it the dosing?  Was it the type?  Was it an allergy to the carrier oil/base? We felt disappointed because we felt surrounded by so many success stories, why couldn't she be one of them?  In my dreams, I planned on purchasing a billboard to join the bandwagon of spreading how medical marijuana was medicine, how it really does work, and how much better it is than pharmaceuticals.  Yet every time we found ourselves let down, trying to rationalize why it didn't work.  Then someone would share their success with another brand and we would talk ourselves into trying it again.

For the majority of 2018 we said we were done with any CBD oil, but then Epidiolex came to the market.  The jury was inconsistent even among kiddos with CDKL5, but it seemed again the vast majority who were on the trials had amazing success, so naturally we had to try itThe day the FDA approved doctors for prescribing Epdiolex was the day Sonzee's epileptologist wrote the script.  With eagerness and anticipation, she too was curious and excited to see how Sonzee would do, we were her first patient to finally get it and start it in December.  As usual, I didn't allow my mind to run too far off into the land of CDKL5 miracles, but I definitely put more than one egg into the basket.  Which is why my heart is hurting and feeling a heavy-weight as we are in the process of weaning what was her "hail mary".

I wish I could convey in words to those of you not parenting a child with refractory epilepsy exactly how it feels to know there is absolutely nothing you can give your child that will ever stop her seizures.  I wish I could express the heavy-weight mixed with airlessness that resides in my chest over the fact that nothing will ever work, but yet we are incapable of not trying more cocktails, more useless combinations of pharmaceuticals, or potential new hail mary's that will pop up along the way.  I wish I could adequately explain the pain and suffocation that never goes away because as long as she is alive she is suffering multiple times a day for 10+ minutes each time and there is nothing we can do for herNothing exists to correct the awfulness that ONE little misspelling on ONE gene has caused.

Sadly, our chapter with CBD is coming to an end.  Part of me doesn't want to believe that, and the other part of me says "just let it go."  It has nothing to do with her age, with the brand, with the dosing, with type, and/or with the base.  It is just like every other epileptic medicine (natural or not) that works for some and doesn't for others.  Even though we have been down this path before with so many medications, breaking up doesn't get any easier.  We will eventually get over this loss, it will take us some time for us to allow ourselves to believe something out there will work.  But eventually the disappointment won't feel as fresh and the optimism (while never as high as it once started) will slowly build its way back up, and no matter how many more times we will inevitably find ourselves traveling down the same exact path, we will do it with a smile. Because, as Albert Einstein said, "Life is like riding a bicycle.  To keep your balance you must keep moving."

The Mighty Contributor

Monday, February 18, 2019

Explanation

On Sunday morning I spent 15 minutes reordering Sonzee’s monthly medications via a pharmacy recording system.  I have the prompts memorized so the entire experience is actually a minute or two less than for those who might have to wait for the guidance of “press 1”, “press #”, “press 2”, etc. This didn’t include the specialty care pharmacy we use to get Sonzee’s Epidiolex, that phone call takes 15 minutes itself to review the same information I literally give every time I call, but for some reason, I’m required to repeat.  After I ordered her medication, I then spent 15 minutes administering her morning medications, another 10 minutes were spent turning off her TPN and caring for her central line, 20 minutes were spent getting her dressed, and 15 minutes were spent making her food for the day, setting up new bags, and turning on her pump.  Getting Sonzee up and ready takes on average a good solid hour every morning.  It is ok, it is just our norm.

On weekdays we have a nurse to help with getting her things ready and together for the day, but honestly, a lot of what is done for her is comparable to weekly meal prep.  I prepackage baggies of different items to make things “simpler”, but I’m honestly not so sure it really does that...it just makes the actual time spent at that moment “less”, but the time is being spent at some point.  She has her linens on her bed changed every 24 hours because of her central line, any blanket or item that comes in contact with her at any point throughout the day is washed.  Then there are also the psychological considerations of those who might potentially come in contact with her or a family member with "an allergy", "just a cough or cold", or a pain medicated masked illness.  Maybe it might be considered overly cautious, but we are talking about literally life or death if any form of bacteria (G-d forbid) enters into her central line.  I honestly do not even really realize anymore how much time is collectively spent thinking about and or performing Sonzee tasks, as they tend to just blend in with the day.  Sometimes it feels like every moment is spent dealing with a doctors office, pharmacy, therapist, her personal care in general, etc.  This is not a complaint, it is just what comes with the territory.

Someone recently commented (not in a negative manner) that I don’t get out because I “have 5 children”...that is honestly not the reality.  It really has very little to do with having 5 children and more to do with having one medically complex child, who honestly equals more work than my (thankfully) healthy 4 other children combined.  When it comes time to me considering taking "me time", the sheer thought of that concept alone is honestly exhausting.  I just do not have it in me physically, emotionally, or on any level to even think about doing something, much less actually follow through with doing it.  I know, I am supposed to "care for myself", it would be good for me to socialize, but honestly, I do not have the energy or really desire to find the time, plan an activity, and actually follow through with said activity. 

It is really something that most do not understand, and thankfully do not have to.  I am sure there are moms of medically complex kiddos who have the energy to be super-moms in every capacity, but this medically complex mom is absolutely drained.  I use up every ounce of my energy and patience parenting all my children, kind of caring about how the house looks (I use the term "kind of" extremely loosely these days, yet there was once a time that I cared a lot), and trying to keep a meaningful smile on my face.  I realize unless you live a life similar to ours, it is impossible to grasp just how much the complexities stem from just her, and I would love for it to remain that way for you.  But just know that my outward "anti-social" demeanor and purposeful isolation are not because I wish for it to be that way, it is just how it has to be for a long list of reasons that those of you who do not know of, will hopefully remain forever blissfully unaware.

The Mighty Contributor

Monday, February 11, 2019

Dear Sonzee (3)

Dear Sonzee,

Today marks 4 years since we first met.  Besides your sister who we planned to meet really early, you came into this world earlier than we had psychologically planned for.  Your father had me convinced you were going to be another boy and with my history of being wrong 100%, I didn't even argue.  I  even stupidly went so far as to think, "we will have the perfect family; two boys, and two girls".  Honestly, I did not even entertain the possibility you would be a girl until two weeks prior to your actual arrival, I had a mini panic attack wondering how three girls would share one bedroom, but then reminded myself there was "no way" you were going to be a girl.  Bubbie was the only one who knew, but she kept that a well-kept secret and made you your baby blanket with a matching hat and bow.  She bought all of the items I had flagged in the "if baby Z is a girl" Etsy store.  In hindsight, I would have picked a different color yarn for your blanket and spent more time carefully choosing outfits and bows.

Nothing about your arrival was expected or planned.  By the time I was in triage and you were born it was a whopping 40 minutes and your doctor couldn't get there quick enough, he missed the entire thing, and two nurses argued over who was going to catch you, while you decided you weren't waiting for either and the next thing I knew I had you in my arms.  I knew from the first moment "something wasn't right".  To be honest, the nagging pit in my stomach anxious feeling has never left over the last 4 years, it just becomes muffled every once and a while.  The constant worrying, panic, tear-filled moments over what is best for you have never left either, and none of it has gotten any easier.

I have shared in your three older siblings celebrating this milestone and the achievements that have brought you to today are ones they thankfully have never had to endure and I apologize that you must.  I am so sorry you are celebrating today being carried from various pieces of equipment by your father, myself, and nurse Karen.  I am so sorry that we might accidentally place your body in a position that could ultimately lead to another fracture for you.  I am so sorry you are unable to run excitedly out of your room to see your gifts on the counter.  I am so sorry that your gifts have to be signs, pillow cases, pacifiers, pacifier clips, and clothing versus the latest trending four-year-old hot commodity.  I am sorry we will not be celebrating you with a party of your favorite characters, and I am so incredibly sorry I have no idea who they might even be.

I am sorry you have spent 6+ weeks total since September 16 sleeping in a bed on the eighth floor of Phoenix Children's Hospital, and it breaks my heart that undoubtedly you will spend many more during this upcoming year.  I am sorry that you have spent so many minutes this past week seizing and in pain or sleeping due to those seizures.  I wish my prayers and begging would have at some point over these past four years changed any of what you endure on a daily basis.  I am sorry that our love for you has not changed any of how your story has unfolded or will continue to do so.  I wish and pray that we could do something more for you.

My dear Sonzee bear I hope you know if it had ever been up to me alone, I would have done whatever was asked of me to ensure this was NOT the lottery you would win.  I hope you know how much your siblings love you and pray for you to not have to deal with the sad parts of having a CDKL5 mutation.  I hope you know that we all live for your smile and moments of happiness and contentedness.  I hope you know that we treasure every moment you share with us and while not the ideal lessons of parenthood I would have asked for, I thank you for them all. 

And so as you turn 4 and enter into your next year, my wish for you is that this is your best year ahead.  One that will be filled with your fewest seizures and least hospitalizations.  Your most smiles and endless moments of laughter.  A year that you will feel less pain and suffer less.  I pray that this year we solve more problems while creating fewer (or no) new ones and that you will only experience positive gains.  I hope you will cry fewer tears and that your bones will strengthen, and that you will continue with more sassy days.  I hope that your personality continues to shine through and that we learn to help you to communicate so we are better able to be there for you in the capacity that you actually want and need. What I really want to give you for your 4th birthday is a cure to this madness, but since that is not a possibility what I am offering to you is an unFOURgettable year ahead. 

Love always,
Ema

The Mighty Contributor

Friday, February 8, 2019

Fractured

For once I just wanted to be able to place the blame on something other than CDKL5.  I really felt it was time for once in her life to get an ACTUAL real answer versus "it is due to xyz because of all things related to CDKL5, but not directly a symptom of CDKL5".  Would the answer have given us anything more concrete to work with?  In my mind, yes.  Reality?  I suppose we won't ever know.  It is amazing what happens when your child has a broad diagnosis; everyone spends more time blaming every other specialist, never taking any ownership over the symptom, deferring out the responsibility of treatment to someone else who feels it isn't really their problem and then nothing changes and no one helps.

Maybe a new diagnosis would not have given her any better treatment, but I felt like it would have doctors actually tell us if we should or should not be pushing her to weight bear to help her bones improve.  Maybe they would give us a game plan for ways to protect her?  I feel like we have essentially been left out in the cold.  Any answers come after asking the same unanswered questions 15 times and then it is as if they are doing us a huge favor by giving us a reply.  I have no idea what to do to help her.

This is a quick snapshot of "explanations" being given to us (and then my thoughts):

Her weakened bones and fractures are due to lack of weight bearing.  When she weight bears she fractures a bone.
Her fractures are due to severe osteopenia from being non ambulatory.  We cannot get her to be ambulatory because when we try she fractures a bone.
Speak to Endocrinology for best ways to manage osteopenia and her weakened bones.  We did, she's on supplements and she had an infusion that caused such negative effects to her I never want to put her through it again.
Her weakened bones are due to seizure medications. NOT THE ONES SHE IS TAKING, and guess what, she won't be coming off of those any time during her life.
Her weakened bones are due to lack of nutrition.  She now has greatly improved nutrition.
Her weakened bones are due to GI medications.  If she had been on them for 30 years.
Her weakened bones and fractures are due to CDKL5.  Not according to the CDKL5 guru.

What do we do for her?  We have already padded her bed, her activity chairs, her wheelchair, and anywhere she is placed.  She has done weight bearing one time since September and it resulted in a new fracture.  She has been sitting in a cube chair at school, could that have caused compression fractures T5 and T6?  Every time we explore a new avenue for her, her body lets her down.  This is almost worse than watching her endure daily seizures.  Or maybe in another almost 4 years, I will be used to it just the same?


The Mighty Contributor

Tuesday, February 5, 2019

In six days

For three weeks every year, my kids are all "two years apart".  I can respond to the how old are your kids?  question with an even response; and these past three weeks it has been "1, 3, 5, 7, and 9".  The birthday that changes things up occurs in 7 days and the honor is given to Sonzee.  In one week my "toddler" becomes a "preschooler", by age and in theory, but not in our reality.  So this birthday is one I meet with an "inner conflict" for lack of a better term.

Four years old.  Another birthday we are beyond grateful for her to celebrate.  Another birthday we are beyond torn on what she would want to have happen.  Four is that first year where kids are excited about a theme and make specific requests.  Maybe it would be Elsa/Anna, Minnie, or My little pony?  I find the task of determining what she really wants to be daunting, overwhelming, and quite honestly suffocating.  It is another birthday we cannot offer her even a taste of cake or she will suffer.  It is another birthday she does not get to celebrate like a "typical Sonzee" would.  Her gifts are all needs based because honestly how many light up/musical switch adapted toys can one girl have that end up sitting on the shelf?!

In six days I will decorate her door with streamers and wake her up by singing "Happy Birthday".  The "new and improved Sonzee" will smirk ear to ear with all of the doting and attention.  She will give us her adorable crooked smiles and hopefully have a day filled with more time awake than spent seizing.  She will hopefully know the day is a day we are honoring her and when her port needle is removed Tuesday we will have a family pool party in her honor in her swim spa after school.  In 6 days it will be February 11, and while 4 years ago on that day I had no idea we would have embarked on this journey, it will be another February 11 that I will be thankful we are getting to spend with her here.


The Mighty Contributor

Friday, February 1, 2019

Searching


After April 16, 2015, I never anticipated that we would ever have a question again as to the "cause" of Sonzee's symptoms.  That was the day we were given a summary for her life.  It was the reason for her uncontrollable seizures, her "eyes doing weird things", her cortical vision impairment, and all of her developmental delays.  8 months later it was the reason for her failure to thrive, for the need to get a g-tube, for her to start the ketogenic diet, and for the hypsarrhythmia found in her EEG background. 13 months from that original April date it was the reason for why her stomach just stopped working and why she needed TPN for the first time.  Despite always searching for various answers for her different presentations of GI issues and never needing to search further for the reasons behind her atrocious seizures, CDKL5 has always been our answer...

Until it wasn't.

In September after Sonzee received her personal gait trainer and began to practice more weight bearing we learned she had 5 fractures all in various stages of healing.  I considered every possible cause, but ultimately CDKL5 received the blame.  There are a handful of kiddos who have a CDKL5 diagnosis who also require extensive bone monitoring and supplements, so like her severe presentation of GI issues, I just considered her to have been impacted more in the area of her bone health.  Honestly, besides blaming the formula she is on, it makes perfect sense to place the burden of this on CDKL5.  She is non-ambulatory, she has severe seizures, and she has osteopenia, of course, it could be CDKL5.  Not one of her doctors felt there was any other explanation, so I let it go.

It wasn't until her most recent fracture within the last two weeks and multiple private messages from followers that a voice of doubt began to get louder in my mind.  It doesn't make sense, (my guess is) 95% of kiddos diagnosed with CDKL5 are non-ambulatory, the majority are non-weight bearing, the same percentage if not more have atrocious seizures, it just doesn't make sense!  How did she get a compression fracture when she cannot even sit? How did she get a buckle fracture in her right ankle when she hasn't even put AFO's on in months?  What caused all of her fractures in September?  These are small fractures, they do not require any casting or surgery.  I decided to call the CDKL5 clinic and ask for orthopedics and endocrinology to consult when we go in 2 weeks.  I was told that they will consult with orthopedics, but this is not a CDKL5 issue and they recommend further testing.  I immediately emailed Sonzee's geneticist and explained the situation, who after hearing CDKL5 clinic recommended the testing said she had no problem starting with the sequencing panel for brittle bones.

In 2015 when genetic testing was offered to "find the cause of Sonzee's seizures", I didn't understand what that truly meant.  I have always been thankful that we didn't have to spend years of her life wondering "why" she was the way she was, but I feel like it has prevented us from seeing clearly.  I don't know how I am supposed to be feeling right now, but it is a mixture of hope for a clear cut answer, of sadness over what that answer is likely to reveal, and fear over what it will mean for her.  The days before we were told CDKL5 I said I needed an answer, and as long as we had one I could deal with it.  I feel like I am at that point again...I need an answer and we will deal with whatever it is.

"As long as one keeps searching, the answers come"-Joan Baez


The Mighty Contributor