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.

"A cure"

This slide has been popping up all over my news feed from the CDKL5 conference this past weekend.  I do not know why specifically, but every time I see it pop up it sends my inner core into fight or flight and instant anxiety ensues.  I know that if I had been present and had all the information regarding the context of this slide I would most likely feel less threatened by such words, but as it stands, I just feel "vulnerable" to the potential of hope it should elicit.

After the 6th time I saw this image I turned to Sam and asked him why I was so angry over it.  It was and does give me such a strong negative feeling in the pit of my stomach, and I wish I could read it with the excitement of those who posted it.  I am unsure of the exact reasoning, but while trying to focus on a calming game of Sudoku, I couldn't squelch the numerous questions that came into my mind.  Firstly, is this really a cure for ALL of our children who have a CDKL5 mutation or will it only work for some?  Will Sonzee be alive in 2025?  Is it even possible to really cure a genetic mutation?  What would a cure actually look like?  Who presented this slide?  Does the presenter have a child with a CDKL5 mutation and if not, do they understand the weight that these words carry? and What really is the meaning behind the words on this slide?

It has, is, and always will be a challenge for me to truly embrace the words hope.  I wish I could say the word and actually believe in it.  I wish I could allow myself to be open to the idea of what hope represents, and allow myself to be vulnerable to every component.  I wish I was not so afraid, but that is really what it comes down to.  A bottom of the barrel, crippling, scary, dark, deeply rooted seed of fear that throws up this clear Plexiglas wall so that I can see what is on the other side, but am unable to be part of it.  I want to believe, I want to have hope, but I do not want to be hurt, I do not want to be crushed, and I do not want to be disappointed.  After all, this isn't about hoping for the sun to shine on a rainy day, this is about my 3 year old not suffering, potentially becoming a functioning member of society, and me not having to come to terms with the fact that I will most likely be burying her at some point in my life.

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Able

It is 1:29am, the house is quiet except for the washing machine and dryer that are spinning in the background, and my headphones playing music that takes me back to my high school and college years.  The lump in my throat keeps trying to bring itself to the surface and I feel the tears in my eyes trying to break free.  I am honestly not in the mood, so I will force a quick swallow and give a fast blink.   Sonzee's "obvious seizure" seizure freedom came to an end today.  As odd as this will sound, we are thankful.  She has not been herself with them gone.  She has spent the better part of the past week crying, whining, chewing her hands and vocalizing her discomforts.  Pain medication has been her only reprieve and we honestly have no idea what we have been treating.  With the return of a new type of seizure also brought her some much needed calmness, and me some much needed steps toward sanity.

There will never be any winning when it comes to this life of hers missing a healthy CDKL5 gene.  Seizures, no seizures, it all sucks.  I am unfazed by this portion of the journey at this point, completely used to it and out of the umph to convince myself that things will ever significantly change at this point.  I keep wondering how we ended up with this as our path to walk, trying not to question why we were the ones chosen to deal with what continues to feel an insurmountable challenge.  I keep wondering when our reprieve will come, when we will be thrown a bone, because it seems more challenges just continue to get sent our way.  It leaves me wondering what am I doing wrong?  What is it I still need to learn?

Tomorrow our middle girl turns five.  I often wonder what things would look like had we stopped having kids after we had her.  Where would our lives be?  How would her and her older brother and sister's lives look like.  It is hard to believe that had we never had Sonzee or her younger brother our youngest would be five years old.  Things would be vastly different.  While it would be easy to say that things could have been easier, that we would not have any challenges, I do not know if I truly believe that.  Having had Sonzee I have always wondered if she took on the task of a challenging life to spare something horrible happening to one of her siblings.

As the years have gone by.  As Sam and I have been given different experiences on our parenting journey some have been more difficult than others.  Each one has impacted us in different ways, and thankfully made us stronger individually and as a unit.  We do not have the answers, we have no idea where this path is leading, or what the story will look like at the end.  What I can say with certainty is that it definitely has not gotten easier, it most likely will not, but I suppose have been gaining the correct tools along the way and each time something new is thrown our way, we are getting better at handling it.  

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I do not know the specific amount of times I have uttered the words "I quit" over the past 4 weeks.  I have actually perfected my knack for finding the perfect gif to accompany my "quitting" depending on what exactly Sonzee seizure related issue has driven me to fall to the depths.  I keep being told I am not allowed to quit, but honestly, I am losing my ability to keep running this marathon.  Consider me the person on the side in a tent drinking a very large bottle of water, procrastinating continuing the race, needing a very long pep-talk, and also a huge push to get back on the path (there inevitably was a bribe of a large glass of wine, mounds of comfort food, and someone pulling my hand).

There is no problem being persuaded to not quit, truth be told I say it because I have no other words to say, but no matter what I cannot quit.  Even though I won't ever end with the best time, and realistically there won't ever be a happy finish, giving up isn't really a viable option.  It wouldn't even make me feel good in the long run.  In my mind it is useless to keep up fighting the useless seizure control battle, but it is also impossible to not keep attempting to break them down.  

I know this is a losing battle.  I know we are up against a beast that is just not capable of being tamed.  I know the havoc these episodes cause to her little brain are irreversible and detrimental.  I know how all of these medications we give to her are just poisoning her body and even if they are helping to an extent, they aren't a solid match.   The constant battle of having a CDKL5 mutation will always be one filled with the painstaking process of trial and error, but quitting isn't going to change that.

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Gambling

I am not a fan of gambling, chalk it up to not wanting to lose, whatever the underlying reason is, I just don't care for it.  There is too much uncertainty involved, too much on the line, and while there is that chance I could win, there is a (bigger) chance (in my mind) that I will not.   There is too much uncertainty when it comes to gambling, and while some people enjoy the thrill of the experience, it honestly gives me increased anxiety, so if I can, I avoid gambling at all costs.

In February 2015 our journey of near daily gambling began, but instead of it being one of those situations where if you lose you can just shrug, walk away, and still go on your merry way, it became a gamble where it turned out even our best chances would leave us pained and drained on all levels.  There is nothing positive about making choices that will eventually backfire or provide more uncertainty.  I, the person who doesn't even like to put my money into the stock market because I consider it too risky, is stuck being forced to gamble every single moment with my 2-year old’s well-being and essentially life.

Last night I was making my new desk calendar on Shutterfly, because this year’s ends on October 31, 2017, and so I began to look through 2017 picture albums.  Every picture of Sonzee represents a decision that we made with the intentions of making her life the best it could possibly be.  We removed a tube from her face, traveled across the country for medical advice, had her undergo surgery, try (and fail) multiple anti-epileptic medications, try various medications to help her GI issues, and had her partake in various therapies (that honestly haven't ever made a difference in her capabilities).  When the tears entered my eyes, I was not sure of the exact reason.  Was it happiness over the ones of her smiling or sadness over the ones of my three typical children smiling without her in the picture because they were standing somewhere she couldn't be, she was asleep from a seizure, or she was in the hospital?  So many pictures involved the blue sheets of the hospital bed, hospital gown, EEG hat, or IV.  Each one represented a gamble we took in her honor to help, yet ultimately failed her in the process.

I try my hardest not to look at our failed attempts as a reflection on our decision-making capabilities or my bad gambling luck.  I tell myself this is just the deck of cards we have been handed and we are doing our best every day.  I try not to get angry over the situation, because it is what is meant to be, for her and for us, but this gambling is breaking me down.  Every decision if it has a positive outcome is short lived, and ultimately ends in heartbreak for us and it seems pain or discomfort of some sort for her.  I wish there was a crystal ball that gave us the right answers on how best to help her, but there aren't any right/wrong...it’s just outcomes that come from the best decision we can make at the time with the information we have....

...but no matter what, it will always be a gamble.

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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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it will be...

I feel like there used to be a time when I could undoubtedly say to someone "things will be fine".  I do not remember second guessing the words or ever really giving it an extra thought of whether the outcome would actually be "fine", because of course it would be.  Everything works out...until it does not, and then you realize saying "everything will be fine" may not actually set a person at ease, because no, things may not be.  There used to be a time that my neurotic parenting fears were based off reading blogs of parents going through horrific battles, or having a friend of a friend experience something rare and challenging with their child.  Then one day, two years ago I am the one who began blogging.

I wish I could back to a time when my fears were completely irrational instead of them being because I am parenting a medically complex child who has changed the way I parent all my children.  I wish I could go back to a time when my brain would interpret ailments for what they were instead of everything turning into a code red/worst case scenario.  I wish I had not let this life get me so jaded.  I know there is always hope for the best, but I struggle believing the outcome will be "fine". 

It is a hard place to be stuck in between wanting to believe "things will be fine", reality, and things actually turning out to be fine.  I find myself holding back telling others things will work out and then I wonder if that is helpful or not.  I know people have to have hope, but I feel like it isn't my place to reassure someone when I honestly do not know...will things be fine?

I do believe everything will be the way it is meant to be, but no, I do not always feel things will always be fine.  I do however believe no matter what it is, you will be able to handle it.

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Feeding Tube Awareness Week 2017: Comfort with the unlikely

Over the past two years I have found comfort in the most unlikely places, in a world I never knew existed, with items I did not know how to say or spell just two years ago.  One of the most challenging things we had to do for Sonzee was get her a feeding tube.  To do so we had to overcome our doubts, our judgements, our misconceptions, our fears, and all the negative connotations that come with a piece of medical equipment used to feed a child.  I personally struggled with what people would say, how she would look, the fear of her never eating by mouth again, and the fact that even though I knew deep down it was necessary, it was not so obvious to others, creating a huge cause of disagreement between Sam and me.  

It is almost a year from the day we nearly lost Sonzee while in the pre-operation room waiting for her gtube to be placed, immediately we doubted our decision leading me to want to forget the day that led to this post.  I wish the memories of that day were not so vivid in my mind.  I will not ever be certain that the chain of events that were set into motion from that day are not responsible for the battles she now faces with her stomach.  However, I do not know if we will ever be able to hold anything other than "CDKL5" responsible for the fact that she no longer can process food in her stomach.  The disaster of the original failed gtube surgery and later complications of the PEG tube placement did nothing to calm any of the negativity I felt towards feeding tubes, after all, Sonzee's condition only worsened after its placement.  Then in May as her life hung in the balances yet again, while being placed on temporary TPN, we had no choice but to allow the doctors to try the intestinal tube that goes through her nose into her jejunum.  

I was vehemently against any feeding tube that went into the nose and would be on Sonzee's face.  My background in speech therapy led me to know that there was a higher likelihood of her losing interest in eating by mouth, and the mom in me still wanting life to appear "typical" to others, knew that a tube on a child's face would be no different than walking around with a flashing red blinking sign.  It broke my heart to know people would look at her and at once feel pity, stare, or feel uncomfortable.  Ironically 8.5 months later I cannot imagine her being alive without this tube and the comfort and security I feel because of the tube on her face for others to see is the opposite of my earlier fears.  

As I take her out of the car, when I park in a handicapped parking space, I proudly place her in her stroller with her stroller=handicap blue placard that is hanging.  It is obvious we belong in the spot and that there is something not typical about her.  My fear of stares has turned into comfort and excitement that I will have the opportunity to spread awareness of CDKL5 and find comradery among others who have traveled a feeding tube journey.  For me, the tube that goes from her nose into her intestine has become a safety net, one that I am actually afraid of ever taking away.  For her, she does not know much before the tube, and she does not express any discomfort from it.  Her desire to eat is no less because of it, and she would eat all day if her stomach allowed her to.  While I wish her body did not need this tube for survival, there will always be gratitude and appreciation towards this piece of a rubber tubing that continuously saves our Sonzee bear daily.

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Comparisons

It happens all the time after I tell someone about Sonzee.  The innocent follow up question is always "what do the doctors say for the long term?”  This usually results in me telling them while the spectrum of her disorder varies, most children with her disorder do not walk, talk, or feed themselves on their own.  I always state we will do whatever we can for her, we are not saying never, but her disorder is limiting, in all ways.  This is then followed by the seemingly innocent comparison.  The one where the person is trying to maybe instill some hope into my life by saying that their child, a friend’s child, or a child of a second cousin twice removed has epilepsy and they are graduating from Yale or some other Ivy League college.  (To be honest, Ivy League schools are not really on my wish list for any of my children, but I digress).

While the statement seems "benign", what I would love people to know is that the comparison to your child, your friend's child, or your cousin's child twice removed, is actually unfair.  CDKL5 and many genetic disorders are limiting in the fact that they are genetic.  When a gene in a body is incomplete, missing, or has an error it has a catastrophic impact on all areas of development.  There is no medication that can fix it; there is no "system reboot" that can be completed.  There is absolutely nothing that can be done to actually make the bodywork normally.  Symptoms can be treated to an extent, maybe Sonya's seizures will one day be completely under control, but even if that happens, she will always have an abnormal mutation on her CDKL5 gene.  This means that the comparison might as well be apples to oranges.

We can spend thousands of dollars on therapies, we can place her in every therapy the world has to offer, and they will help her, but they will not ever make her act like or be a typical child.  When I am told that "doctors can be wrong", yes they can be, but not with CDKL5.  I wish people did not feel the need to create small talk by saying "you never know what might happen".  You are absolutely correct, I do not, however unless it involves a vial of CDKL5 capable of replacing the frameshift mutation on Sonzee's, than I am 99% certain that attending (an Ivy League) college will not be in her cards (but she will be happy to accept an honorary degree from one).

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Realization

It's EEG day.  I am much more relaxed about the possible results since she started Sabril 2 weeks ago.  I honestly do not expect to be told she has hypsarrhythmia, nor would I expect her background to be typical normal.  I am pretty positive the reading will be "typical Sonzee", with her usual spike waves here and there, but nothing too shocking for a child with a CDKL5 mutation.  Yet I am sitting here for the first time in her life wondering why we are even doing this EEG in the first place.

I have known since her diagnosis that seizures were the most challenging component of a CDKL5 mutation.  We have lived in a constant state of fear that they will cause significant brain damage or take her life.  We have treated her spasms (the most dangerous to development at her age) with steroids and now Sabril.  We have chased after complete control with practically every marijuana and hemp based CBD oil, along with straight THC (go ahead you can judge us).  There is always that wonder about what Sonzee would be like if we could control the seizures.  The fog of seizure control completely taking over the simple fact that she will always be missing a complete CDKL5 protein. 

Despite knowing that seizures are just another side effect of her missing protein, I often forget that even if the seizures are controlled, she will not ever be typical.  Even with complete control, she will always have challenges.  Truthfully, with complete seizure control the types of challenges I have seen in other children with the same diagnosis are in my opinion sometimes more challenging.  To the naked eye our kids look typical, but get up close and it is clear they are not like the average child.  

There really is no winning when it comes to the outcome of Sonzee's EEG results.  No matter what, the outcome is still the same.  If her background is typical, she is not going to miraculously be a typical 18 month old when the leads are removed from her head.  If they are typical Sonzee results, well then tomorrow is just like every other day she has had.  If for some reason my mom gut is on a complete vacation and it turns out that she does have hypsarrhythmia, well I am pretty sure Sam and I are not having her endure another round of steroids.  I personally cannot put her through that again myself.

I am coming to terms with the realization that no matter what we do to stop the seizures, there is nothing we can do to change the importance of the CDKL5 protein...and for that, I need to go and buy myself some more ice cream.

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Another school year begins

Today starts another school year over here in Phoenix, Arizona.  The weather still feels like summer, so besides the fact that we have been home only 12 days and it feels like so much longer because the kids and I are ALL so ready to resume our typical routines, it doesn't feel like a new school year should be beginning.  My back to school shopping concluded with literally half a page of yellow highlighter over the items purchased, as it covered three different grades on the left side of the paper.  This morning we will have a first grader and a kindergartner, and on Monday, we will have a preschooler attending three days a week.  I find myself (as usual) with a mixed set of emotions.

Since the summer of 2011 I have always had at least two children who were two and under by my side on a daily basis.  We have always followed a schedule of activities that kept us all busy, me especially.  There has always been special alone time factored in with each child as much as possible.  The other times were days of special bonding for the remaining siblings at home.  This year will be no different on Tuesday and Thursday, but on Monday, Wednesday, and Friday, it will just be the bear and I flying solo.  I am extremely excited to have this time with her, especially since in a year from now the discussion of preschool for her will be brought up, and that gives us a year to start to figure out what our feelings are on that topic.  At the same time, it is slightly sad for me because the types of alone time I will be sharing with Sonzee will be vastly different from the others.

I am finding myself play the "I wonder what it would be like if Sonzee were a typical 18 month old" game.  I know this does absolutely nothing as far as helping me during this lifetime.  Yet, it is a game I tend to play during these types of events.  I honestly can't stop the images and thoughts take over my mind...and to be honest there are definitely days where I get wrapped up in my daydream and I entertain it a minute too long because it brings me such joy.  It is obviously not the same type of joy she brings into my actual life, but it is similar to one of those fantasy dreams that you wake up from and you think about for another 5 minutes or so imagining how it would be if it were your real life.  Sure, our schedule is packed with therapies and activities for us to enjoy together, as well as quiet time to relax, but I will not even lie to myself and say it will be the same.  

I know Sonzee and I are going to have such a great year together on our "Sonzee & Ema days", going on special dates, going shopping, participating in activities, etc.  I also know it is going to be challenging to participate in the above-mentioned activities because going out with Sonzee is not as simple as going out with a typical 18 month old.  I know there are going to be days that will make me feel more sad than I can even anticipate, but I also know there are going to be days that I will feel happier and more thankful for my title of a mom with a child who has special needs...because no matter what, these times we will share will be absolutely special.

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Validation

One of the scariest parts of being a mom of a special needs kiddo is having to rely on your gut for just about everything.  Relying on your gut is not always easy because as I have shared previously, many times the feeling you think is your gut talking to you, is actually your doubt and fears.  It can be challenging at times to decipher one from the other and usually time is not on your side.  So as always, when you find yourself at the fork in the road with the hourglass empty, you give the steering wheel a slight nudge in one direction, you hold your breath and you pray.

However, one of the most rewarding parts of being a mom of a special needs kiddo is when you realize that maybe the feelings of doubt and fear that you think are clouding your judgement, really aren't fears and doubt, but actually your mommy instincts doing what they do best...guiding you.  When you reached that fork and you decided to turn left instead of right and you see that maybe, just maybe you made the correct choice in your daily "pick your adventure" series.  That my friend is what I would call validation.

It is at this time on your scenic route that you sit back and enjoy the ride, not because whatever decision you made resulted in what you as a parent want for your child, but rather because you realize that you are not completely failing.  You realize that maybe you are capable of more than you are giving yourself credit for.  You realize that maybe you are cut out for this heavy honor you have been given.  After all, according to any text book you should not even be on the path you chose, but you somehow, by some grace of G-d were able to determine that this was the exact place you needed to be.  For that reason alone, you deserve just a moment of applause.  We all know that the next crossroad is lurking around the corner waiting for you, and it will appear all too quickly and all too unexpectedly, and you cannot be nonchalantly basking in the sunlight or you just might miss your turn. 

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Warnings

When you study a specific subject matter for a lengthy amount of time, you become extremely knowledgeable on that topic.  The same can be said in regards to dealing with certain situations for an increasing length of time; you become so well versed on that specific subject matter that you know its ins and outs.  When you spend your days caring for a child who has a specific genetic condition, even without any prior formal medical training, over time, you become an expert in this specific field.  That is why from the very beginning of this journey when other parents in the CDKL5 parent support group shared their experiences with seizure treatments, the best types of therapies, vaccinations, overall health difficulties, etc., we have listened and we have trusted.  

Every wobbly step Sam and I have taken on this journey has been done while holding the virtual hands of other parents with kiddos with CDKL5.  All of these parents love Sonzee as much as we do.  They want only the best for her.  They share their experiences both successful and those that turned out unfavorable for us to use as tools for guidance.  The successes they share to not only instill hope, but also with an extreme desire that this specific recommendation might result with the same positive outcome for Sonzee.  They share the unfortunate experiences not to take away hope, but more as a warning; a message to keep in the back of our heads that says, "Hey, this could happen" or "be sure to keep a lookout for....”   

As we all know there is no specific cookie cutter route for dealing with all of the situations that could potentially arise while having a child who has a CDKL5 mutation.  Each child has his/her own specific path to take, dealing with his/her health and developmental obstacles.  There are certain key elements that are present in the majority of the kiddos, but how each child responds to specific treatments, therapies, vaccinations, etc. varies.  The only option we have is to take the advice of other parents, combine it with the information shared from our medical professionals, follow our wavering instincts, and simply gamble.

I personally am not a fan of gambling, it is not a thrill of mine.  Maybe it is because the negative feelings of losing outweigh any potential feeling of joy that could occur if I were to win.  Maybe it is because I am not an inherently lucky person and I figure with the odds against me that there is no point.  No matter the possible reasons as to why, I just really dislike gambling.  This is an extremely difficult thing to dislike when essentially EVERY decision we will ever have to make for Sonze is based off some sort of gamble.  A gamble that no matter what the result is essentially life changing in all interpretations of that term.  From the very beginning, we have lived with only seeing the consequences of our choices in Hindsight.  

These past three weeks we have seen the consequences of our choices for Sonzee play out in a manner that has left me way down at the bottom of the coaster.  I do not and cannot regret any of the decisions we have made, I know we are only doing our best with the situation we have been given.  HOWEVER that does not change the guilt, anger, and sadness that follows when you see your child suffer based on the decisions you made with the main goal being to help her.  It is so hard to say if her current predicament is a result of the ketogenic diet, the gtube placement, the high dose steroids, or a combination of all of the above.  Was this issue inevitable regardless of any decision we made just because of her specific body and the effects of her specific CDKL5 mutation?  Regardless of the cause, I cannot say we were not warned.

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Findings

Since the beginning of this week it was discussed should Sonzee require the PICC line for TPN that she would also have a video fluoroscopy and sigmoidostomy while under anesthesia.  The purpose of these two procedures was to see if there could be answer to the question of what is causing Sonzee’s issues.  We are aware that delayed gut motility can be a negative component of having a CDKL5 mutation, but there can be other factors such as an allergy to one of the ingredients in her formula, or the ketogenic diet by itself can have a negative impact on a child’s digestive system. 

It was determined after Wednesday night that it was necessary to give Sonzee nutrition and we entertained the NJ tube trial long enough without having any success with her absorbing the nutrients.  Our doctor had already filled our heads with the idea of a PICC line and potential TPN from the beginning so we would not be blindsided should it become a reality.  I am beyond appreciative for that, as by the time Thursday morning rolled around, after Sonzee was presenting concerning signs that she was extremely malnourished, I basically asked the day team what time the PICC line would be placed.  The procedure was finally set for 2:00 with the GI procedures following immediately after.  Sonzee’s blood sugar was very low indicating she was in acidosis from the ketogenic diet and her lack of nutrition so she was given sugar water to correct this prior to the procedure and her sugars came back up.

The PICC line was successfully placed and it was time for GI.  By 3:30, her GI doctor came out to us to discuss his findings.  I have to admit I honestly did not anticipate what he would tell us.  I really just assumed he would take the biopsies, send them off, and we would discuss the results after the lab performed tests on them.  What we learned was definitely unexpected.

When her doctor inserted the camera down her esophagus and into her stomach, he was met with resistance until he filled her stomach with air and noticed an obstruction.  The obstruction he soon learned was part of the PEG tube that had been placed back in March.  The PEG tube that was placed in order for Sonzee to receive supplemental nutrition to ensure she gained weight appropriately.  The PEG tube that Sam and I spent HOURS agonizing whether it was the right decision for her.  The PEG tube that was supposed to HELP her.  Instead, the PEG tube caused an obstruction that blocked the ability of contents entering her stomach to exit and enter into her intestine, and forced the contents to go back out the same way they entered.  The PEG tube has left her stomach and itself useless until it can be switched to the MIC-KEY in three more weeks after the tract is completely healed.  The tube is not solely responsible for the predicament Sonze is in, however, it is believed to have exaggerated the situation.  Her intestines were unable to pick up the entire responsibility we placed on them in terms of handling her feeds, but with the assistance of TPN, we will give them another chance.  We are hopeful that her stomach will be able to resume typical function following the MIC-KEY button placement and when she is ready to move back to stomach feeds.  

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