Simplicity

On Sunday we take our older children (with Sonzee in tow) to their weekly swim classes.  During their session in the baby pool to the right of the "big kid pool" is the class for babies 2 months to 6 months old.  Little babies that are getting acquainted with the water while bonding with their mom or dad, or both.  Sonzee participated in this class when she was that age.  I have distinct memories of her sleeping the entire half an hour due to having a seizure before entering the pool.  The other parents would all smile and comment about how cute it was that she was able to sleep the entire time, they never knew why.  I enjoyed that class because it was a time when Sonzee was "the same".  It was a time that I could pretend that she was not developmentally behind.  It was a time that her seizures, CDKL5, and our lives were essentially a secret to outsiders.

Today as I was helping Sonzee's twin girl get dressed, I was standing right next to the baby pool.  I could not help but stare at each baby and his/her individual experience.  There were 5 boys and 1 girl in the class.  Mostly dads were present and they all appeared to be on the younger side of the age range.  The mom or dad was taking a cup with holes at the bottom and letting the water fall over each baby's head.  I took note of all the reactions present; surprise, eyes closed with a squirm, and some pure delight.  I could not help but smile.  It has taken me 8 months to feel ready to blog openly that Sonzee is going to become a big sister in the next 6-8 weeks.  I have had so many experiences along this journey that I have wanted to put to paper, but it was not until today when that first baby in the pool gave such a huge smile as his reaction to the water over his head that I knew I could do it.

Chalk it up to fear of opinions, fear of something going wrong, fear of comments, fear in general, or maybe it is just the uncertainty of how our family dynamic is about to change adding another child into the mix.  Whatever the reason, I could not bring myself to "admit" that our world, Sonzee's world is going to change and deep down I know it will be for the best but on the surface, there is an immense amount of fear of the unknown.  What I have missed most about having an atypical child is the simplicity that a typical baby brings.  Yes, there are sleepless nights, there is the typical parent worry, there is the typical unknown, there are the typical challenges a new baby brings to a family, yet after having a Sonzee there is an appreciation for the simplicity that I am praying to occur with this baby.  Fear is deeply etched into this hope of everything working out the way I am so anticipating.  Sometimes the fear is so suffocating it is paralyzing, not that this baby will have CDKL5 (yes, we checked the best we could for those of you whom I know are curious) but of every other rare situation that could possibly occur.  Once you enter the world of rare you realize how not so rare it is.  However, in the recesses of my mind and heart is just pure faith that this baby is exactly what our family needs to pull us all together and keep us grounded in a manner of simplicity I am ready to appreciate in a completely new manner, all thanks to Sonzee.  

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Clarity

Since Sonzee's CDKL5 diagnosis I have always done my best to make sure that she is looked at as "Sonzee", as an individual, as a person first before the 5-character string that sits "quietly" next to her name on every document that I fill out for her.  To be honest when a doctor uses CDKL5 as their reasoning behind whatever symptom or situation we find ourselves in, it infuriates me to no end.  I have at times considered it to be an excuse, a way for them to place a "blame" on something because they probably do not have a reason themselves as to why she is enduring so much difficulty.  

While I have always felt that her medical team has always held her best interest at heart, there have been so many instances that I felt frustrated with them, thinking that they "just didn't get it".  After all, my rationale was that despite caring for her medically, how could they possibly feel the same way about her as myself and Sam.  After all, they have so many patients, they have so many other priorities, they do not have the time to figure her out.  The situations we find ourselves in with her have taken me on one huge never-ending roller coaster of emotions and it seems around this time of year I tend to have an epiphany and continue to travel on this lengthy journey of grief.

There is usually a situation that occurs that brings the epiphany to light and this year it was our trip to the Children's Hospital of Philadelphia.  We went specifically for Gastrointestinal (GI) motility testing.  Of course, the doctors were aware of her seizures and her overall diagnosis of CDKL5, but I "strategically" did not request a neurological consult while there because I wanted us to just discuss her motility.  I did not want the "blame" to be on CDKL5, I wanted to be told something else was responsible for her situation.  I wanted to know that there was a chance that she could maybe, someday, be a bit more "typical" and tolerate food into her stomach.  Dare I say it, I wanted some "hope".

When we left Philadelphia, that is exactly what we left with, hope for the future, hope for her feeding, and hope for her to be gastrointestinally typical.  I held in my hand an extensive list of potential trials and suggestions and with uncertainty, but "hope", Sam and I walked into her Dr's office this past Friday.  We sat and discussed all of the options, we came up with "the perfect game plan", we spent a ridiculous long time asking questions and listening to what our doctor's thoughts on everything were.  These test results gave us information we never had before, a "reason" behind her issues, and simultaneously the infamous "aha moment" filled my mind as I listened to Sam's final question and heard the answer.  

"Just so we can sleep at night. (Well to be honest I have been sleeping fine), but so we can sleep at night, what these test results show is that her dysmotility was not the result of anything we did?  It was not due to us giving her steroids? It was not due to us having the g-tube placed? There was nothing we could have done to prevent this from happening?"

"No, no, nothing you could have done, this was happening regardless, even before you realized it.  This is just the result of her and the effects of CDKL5".  At that moment I realized how much Sonzee's doctor has been on our side this entire time.  It is so easy to be blind when you are living in the trenches, there is limited visibility when you live in this life.  You pick a team that will hopefully eventually help you to see through the forest.  Just as our doctor left to write out the recommendations and send us on our way I looked at Sam and asked him the question we used to never agree on.  

He went into the hallway and saw Sonzee's doctor standing by her desk and began asking her more questions, the questions that yielded the answers we needed to hear, but did not know to ask.  The answers that proved to us that our doctor was always looking out for Sonzee, but she was also supporting us on this journey.  On our quest to separate Sonzee from CDKL5 we are the ones who forgot to consider the "bigger picture".  No, CDKL5 does not define her.  Yes, despite CDKL5 she can make valuable gains.  But despite only being a 5-character string, the complications set forth from a genetic mutation such as CDKL5 create limitations that will always be present and unavoidable.  No matter what our hearts might yearn for, the specific and individual mutation makes our little bear who she is, and it is the reason she is rare, she is special, and she is HER.

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Muddy water....

When Sonzee was first diagnosed with epilepsy and then shortly after with CDKL5, I would only bring up CDKL5 as the reasoning behind her daily seizure activity if asked, but would just tell inquiring minds that she had epilepsy.  As we added more diagnoses to her file she morphed into what I would begin to refer to as a "medically complex" child.  It was easier for me to summarize her to others with two words vs going into the extensive list of specific difficulties she presents with.  I never really considered that even within the land of medically complex she could be even more complex than any of her diagnoses summarized.  

We flew 2,344 miles from our home to have motility testing ran to help us treat her better.  In my mind, I assumed the results would match up with her symptoms and various GI diagnoses, and they would confirm that her stomach could not tolerate food.  I assumed we might be given different ways to manage her symptoms, but that at the very least her body would perform in the same manner it has for us each and every time we have tried to reboot her system and use her stomach.  Yet here we are and so far every single test is coming back normal.  Do not get me wrong, this is great in terms that her stomach is emptying appropriately, and we have specific evidence she has bad reflux, but it is also extremely disheartening because we do not seem to have a straight forward clear answer as to why she cannot tolerate being fed through her stomach daily. 

I suppose that is an answer, it shows there is no physical reason as to why she cannot tolerate foods.  It shows that theoretically, with time, we could transition some if not all her feeds back to her stomach.  It shows there might be potential for her to be fed by her mouth versus a feeding tube (given she does not aspirate).  However, it leaves us having to sift through the neurological component that is CDKL5.  It means that despite my best efforts to not use CDKL5 as the reason for everything Sonzee related, it seems to be the "only" answer to why that we have left.   

Since she was born I have always been on the search to uncover the cause behind her symptoms.  Maybe that is what all parents do when they are handed their unexpected present of a medically complex child.  In our case we found our overall why and it is known as CDKL5.  Maybe it is just me, but I used to think and say that if I knew the reason behind the "why" that I would be okay, that it was all I needed to know.   Maybe there is just no pleasing me, but I feel there SHOULD be an actual answer to why, other than CDKL5, because all I have learned in 2.5 years is that CDKL5 does not give us any answers and it certainly is not an answer in and of itself.  Then again, maybe there will never be actual answers and I should just stop searching... 

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Never

In parenting in general I have always tried to avoid using the words "I will never".  I figured eventually I would most likely become a hypocrite because how could I say "never" when the whole experience was something I had never taken part in and therefore knew nothing about to make such a hefty accusation.  I knew in the back of my mind how I wanted certain things to play out, but then life happens and you just never know what choices you thought you would "never" choose.  

The opposite has been the case when it comes to specific anti-seizure medications.  Once you get thrown into the world of seizures and spasms, and various drug names you quickly get a clever idea of the drugs that you would not want to spill on the floor due to the hazards much less put into your child's body.  From the beginning Sam and I were adamant "we would never" give Sonzee the drug Clobozam, also known as Onfi.  It is a "big gun" anti-epileptic medication, known as a sedative and classified as a controlled substance.  The warnings for this drug are printed in bold on Onfi's very own website.

                    

               WARNING: RISKS FROM CONCOMITANT USE WITH OPIODS

See Medication Guide and full Prescribing Information for complete information.

ONFI is a benzodiazepine medicine. Benzodiazepines can cause severe drowsiness, breathing problems (respiratory depression), coma, and death when taken with opioid medicines.

I find that we are at an impossible crossroads.  I cannot in good faith let my child seize multiple times a day for 10+ minutes each time.  She cannot keep sleeping and seizing.  On the other hand, our only choice is a drug that could literally kill her with respiratory issues and/or make her sleep all day long.  As usual the question of "quality of life" presents itself in a more pronounced manner.  She does not have much quality these days with her seizing schedule.  We are at the point where we must take the chance.  We must play Russian roulette with our 2-year-old and we must pray we will not regret going back on our never.

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Playtime Interrupted

Oldest: "Ema can I play with Sonzee in my room?" 

Me: "Yes, just be careful when you push her in the chair not to get her wires tangled"

Oldest: "Come on choupers, let's go"

(Some time goes by)

Oldest coming to me: "Ema, Sonzee is having a seizure, why does she always have a seizure when she is having fun?  I was reading her a book and she was smiling and all happy and then she had a seizure again...it's not fair"

---

Our oldest was just 5 years old when Sonzee was born.  An innocent, light brown haired, blue eyed, loving, caring, full of personality, dancing, playing around, typical big sister who has always loved to dote on her siblings and had to learn at the age of 5 what a seizure looked like in a newborn baby.  At 5 years old, she was wise beyond her years, but still a bit too young to fully understand or grasp all of what CDKL5 meant for her youngest sister.  Sam and I have tried over the past 2.5 years as hard as possible to protect her little mind and heart, answer her questions, give her only necessary information, and essentially trying our best to support her innocence a little longer.  However, our little girl is becoming older, smarter, and now at the age of 7.5 she understands more, hears more, knows more, feels more, and hurts more. 

I am not quite sure what hurts me most about Sonzee's seizures during her sibling playtime, the list is so long.  I hate that it disrupts a happy moment occurring between them all.  I hate that she has seizures in general and they occur so often that this conversation happens at least once a day.  I hate that our oldest must experience at 7.5 what I do now at 33.  I hate the sound of defeat our oldest has in terms of her play session being cut short due to the seizure "because Sonzee was having so much fun".  I hate that my only answer is "I know it stinks you guys were all having so much fun".  I hate that our 7.5-year-old rebuttals with "why does it ALWAYS have to happen".  I wish my reply could include more substance than "I don't know, it is such a bummer".  It ALL hurts.  It ALL breaks my heart.   

The silver lining comes at the end of the seizure, when I relocate Sonzee to her bed to rest and her oldest sister asks if she can finish reading to her in her room.  Our oldest and I have one of our typical sevenager disagreements because she wants to show Sonzee the pictures and cannot reach her crib, and I assure her it is ok, Sonzee will just listen because she is too tired at this point to look at the pictures anyway. I leave the room to two sisters, the 7.5-year-old reading to the 2.5-year-old and can almost for a split second forget the events that preceded and the fact that one of them has intractable epilepsy.  I will replay the events in my mind and will pray that tomorrow's playtime will go differently, but first I will memorize this image...because this gives cushion to the pain.  This love that our oldest has for her "twin-girl" is something that brings tears to my eyes.  She has her own twin size bed, with a memory foam mattress (that I personally think is extremely comfortable), but instead insists on sleeping on a toddler bed in Sonzee's room.  This brings me a wave of comfort even if it is just a ripple.

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Spectrum

It has been four days since our CDKL5 family lost another precious little soul.  A sweet 2 year 10-month-old little boy who was just 4 months older than Sonzee.  The pain is a mixture of heartbreak for his family tinged with fear for my own.  Within those four days another CDKL5 2-year-old learned how to take her first independent steps.  My heart filled with joy for all she has accomplished and immense amount of hope for her journey, but simultaneously breaks for what Sonzee might never do.  My heart and mind both torn at the fact that I should be less selfish about my feelings toward other CDKL5 children’s' advancements and just be grateful it's not my turn to be planning a funeral. 

This incurable disorder is just devastating on every imaginable level possible.  The spectrum is so wide and confusing.  We all want to grasp onto hope with the term representing various parts.  We hope our children do not constantly seize, we hope our children gain milestones, we hope our children are happy, we hope our children do not suffer, we hope our children do not catch a common cold that sends them into the hospital and has them clinging onto their lives, and most importantly we hope and pray our time to bury our child does not come today.

I spend every moment trying to keep Sonzee's life expectancy in perspective.  I try not to focus on the "what if" and "when".  I do not let those aspects consume my life, but the thoughts are never distant from my mind.  I know plenty will say "I shouldn't think that way", even other parents of children with CDKL5, but I will not convince myself otherwise when I know how unforgiving these toddler years can be, when I have witnessed Sonzee teeter on the delicate rope between life and death, and when I watch her seizures increase in both length and intensity right before my eyes.  It works the same with her Sonzee-stone achievements, I try not to focus on the "what if" and "When" but just let her do what her body is capable of, trying to truly believe when I say that I am content with where she is at.  

Daily we have new CDKL5 family members added to our group.  Having your child affected by a disorder with such a spectrum is cruel and unfair.  A parent posts a picture a picture of their 14-month-old standing and some say it "gives them hope", while I do my best to not compare an apple to an orange.  No one wants to have their child "more severely impacted", but someone must fill those shoes.  It is just the luck of the draw when it comes to CDKL5 and the role it plays and while we could not have won a bigger jackpot having Sonzee as part of our family, we could not have fathomed how difficult and painful her journey was going to be. 

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Sometimes it's just easier

We are spending this week at Hershey Park.  We've done this before when Sonzee was a year younger, and I could justify her constant position of being in a stroller because she actually was "a baby".  It didn't phase me that she wasn't going on the "no infant in arms" rides because she was an infant.  She wasn't impressed last year with the few rides she could go on, the merry go round, train, and the monarail, but we took her on them irregardless because I insisted we treat her like everyone else.  Fast forward a year, knowing her personality better, and respecting her desires and we decided to not even attempt to take her out of her wheelchair.  

Sam and I have a routine of waiting in line with the kids to go on rides and then he takes on the children who want to go that have met the height requirements one at a time.  It's not ideal but we are clearly outnumbered by children so it is what is, and we don't factor Sonzee "as the reason" we wait.  With my parents here this year it makes it easier, but due to various ride restrictions Sam is the sole adult participant for this trip. There are some rides the kids wanted to go on  but that would involve taking Sonzee out of her wheelchair and having her be held in my arms and to be honest would result in a miserable time for everyone in addition to her, so we told the big kids we would take them later because Sonzee would be retiring to the room early.  As my oldest repeatedly said "even though we love her, sometimes it is just easier to not have Sonzee."

"It is easier", after I agreed with her and said the words, the tears swelled in my eyes (thank you $5 sunglasses from Marshalls for hiding this small fact) and I had to choke back the feeling of crying from my chest.  It is a honest truth that certain aspects of our life are "easier" without one of our children, and that is the worst feeling in the world and utterly breaks my heart.  I can't believe I have to say those words much less think them, and I really can't even fathom that it is actually a fact.

It doesn't phase her siblings that we tell them on multiple occasions "we can't because of Sonzee".  They don't have tantrums or get visibly upset over the "excuse".  They are very "go with the flow" type of children, but I am sure it must be frustrating to constantly hear us tell them they can't because of Sonzee.  It warmed my heart to hear my oldest say "we love Sonzee but", but I dislike immensely that there is even a "but" to follow.  She isn't wrong either, it is easier at times without their sister, I just wish that wasn't the case.

Sensitive emotions

I can clearly remember how Sonzee was 2 years ago when she was close 5.5 months old.  Her diagnoses of CDKL5 known to us already for a little over 3 months.  She had been enrolled into therapies for 4.5 months at that point.  Her seizures were finally under some semblance of control, only happening every other day.  I remember being upset with that form of control.  I remember despite knowing the odds of her sitting, walking, talking, and/or being functional I was filled with so much hope because she was so young.  I remember distinct conversations with her physical therapist where we would both say that "Sonzee will...." and "She is so young....".  I remember feeling like maybe, just maybe, she would be the outlier to the (extremely few) journal articles written that gave the statistics about children with CDKL5.  

I can clearly remember 14 months ago when Sonzee was 15 months old.  Her life hanging in the balance as she spent a month in the hospital with it unknown to us whether she would be leaving the same doors we brought her through in our arms.  Her amazing therapists came and sat there encouraging her along the way.  She was swollen from medications, TPN, and additional fluids.  She had transfusions of blood and various other items to balance her metabolic panel, and developed an allergic reaction to the one seizure medication that at the time she appeared to be responding to.  Her seizures were at bay, but her physical development was far worse due to her failing body.  I remember feeling utterly helpless and wondered if it was going to be our turn to join those who had lost their CDKL5 children.

The years have passed and our attempts to help Sonzee live her best life possible have not gone the way I personally have intended.  Despite the relentless seizures and the awful GI system she was blessed with, we have not ever stopped her therapies.  Her therapists sit in our home whether Sonzee is an active participant for the hours they are scheduled.  They reschedule when Sonzee is having a difficult day and they do their best to help her have the best quality of life possible.  I will never say that the diagnosis of CDKL5 defines who the essence of Sonzee is, BUT I will loudly announce that it plays a crucial crucial role in her body's ability to achieve skills and perform "simple" tasks.  

Last night was one of those times where I felt like such a failure despite all the therapeutic efforts we have tried with Sonzee.  I truly believe that the words that led to my feelings were not intended to cut me like a knife.  I will lend it to me being super sensitive, but I am going to embrace the pain they caused regardless.  No Sonzee does not sit, she does not even want to be held upright at times.  She is wheelchair bound, and this is not changing any time soon.  Her physical abilities do not have anything to do with her personality so I do not let her lack of development negatively affect me.  It is probably irrational of me to be the slightest bit disappointed with myself over her development when just yesterday over an 11-hour period she endured 3 seizures and slept 9 of those hours.  There was no time to squeeze in any attempt at physical therapy.  I will take a guess that her day today will be similar, but she will be up for the challenge in true Sonzee fashion.  She is her absolute best even with the CDKL5 mutation she was allotted and I will continue to tell myself I am also.

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Disappointment...again

For the past two summers I have created a list of "attempted goals" in my mind that I wish for Sonzee to achieve.  I always tell myself to be realistic, but to be honest, this is the one time of the year I actually feel extremely optimistic that during these four weeks there is no reason why she cannot progress leaps and bounds when there is nothing else to do but work with her.  Then the summer begins and the hours of each day pass by, the days turn into weeks, and I am left realizing that my fantasy of Sonzee gaining substantial ground is just that, a fantasy.

The scenery has changed, the environment is different, but the effect of CDKL5 is and always will be the same.  The seizures perform their daily havoc, actually, they are pretty much the only skill that she seems to make advances with.  Just 5 weeks ago she was having small little questionable moments, and now twice a day on average she has undeniable episodes.  I do not know when I will truly realize that we are not ever going to beat the seizures.  There is no magic potion to wave them away, and deep down I really do know this.

Her jumper is hanging in the doorway here in our townhouse and her stander sits by the wall.  Both have been used twice.  The Upsee has spent the entire time hanging in a bag on the laundry room door, my desire for us to walk together for 5 minutes a day has yet to be met.  Her bike sits by the fireplace next to a basket of toys she has zero desire to play with despite the various attempts her siblings and I make to get her interested.  Essentially, nothing has changed except my feelings of defeat are far more pronounced. 

It is the moments like these that I realize that even though I thought I had lost my hope with her, it was there, hidden away in a small space in my heart and mind, hoping to prove the majority of my heart and mind wrong.  In the end, all it does is leave a pain in my heart, a fog in my mind and it solidifies why it is I really dislike everything that surrounds the word "hope". 

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Becoming accustomed...

Whenever Sonzee goes through months of multiple daily seizures I do get numb to them.  Some of them bother me more than others, but overall "I am used to them".  I feel like when I say that to people I genuinely believe it.  Seizure are part of all the amazing offerings of CDKL5, well really it is more than that, THEY are the essence of CDKL5 at its core.  However, it is not until Sonzee experiences a break in her seizures and they return that I realize how much I was fooled into thinking I was/am used to them.  I guess I was not aware of just how talented my brain has gotten in constantly shielding me.  

I have watched this little girl seize since she was a newborn.  I have seen her body move in ways that are just not normal.  I have seen so many several types of seizures that my descriptions typically involve some morbid explanation that leave some of her doctors uncomfortable, but they at least understand what her body is doing based off my words.  I always try to accompany my descriptions with a video, but it is obvious that even the professionals find it uncomfortable to watch.  Which makes me realize just how not okay this situation is, no matter what my brain tries to convince me of.

There should not be any parent who must "get used to" witnessing seizure activity in their child.  This should NOT be an effect of a disorder.  My brain should not have to find a way to cope with this.  It just should NOT be.  I do not think I will ever understand why the hallmark of a CDKL5 mutation must be the most volatile atrocious experience you can possibly watch your child go through.  My brain clearly has limitations with its capability of comprehension in this department.  I guess I will just have to give it a couple more days and I will be back to the state of numbness that I get accustomed to and prefer.

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