There's always one

There is always that one picture that does me in.  Every. Single. Summer.  The one that I know is inevitably going to occur but I have forgotten over the year is going to be taken so it will always continue to catch me by surprise.  It is the one that makes me smile for a split second before my brain registers what I am looking at and what is missing, well actually more like who.  This is then followed by a dialogue that occurs silently within my mind about how nothing/no one is really missing and that it is just the (sad) reality of life.  Yet, my internal negotiation doesn't change the fact that the damn picture has still managed to pierce my heart.

I HATE after 4 years on this journey that these types of moments still occur.  More often than not I find myself in a state of numbness that only periodically allows this sort of real life pain awareness to seep inside.  Call it whatever you want, it is one hell of an amazing protective device, and personally, I prefer the numbness over the stabbing pain my heart feels when one of these moments creeps in, so I am glad they are only occasional.  What I dislike most is that it almost seems like my mind takes the picture completely out of context.  Where I should be looking at my oldest daughter, her best summer friend, and her little sister, standing on scooters posing for an adorable picture, my mind does not see Sonzee standing next to (who should be) her summer best friend.

I HATE these types of reminders of how old Sonzee is.  I HATE these types of reminders of what Sonzee is unable to do, of who she is unable to be, of how much of life she is missing out on.  I HATE that this picture that I should be printing and placing in a frame for my oldest daughter because it is such a great picture, takes the breath out of me every time I look at it.  I HATE that these types of reminders pop up randomly without notice and seem impossible to prevent.  I HATE that not only was she missing from the picture, but she was sitting at home miserable, unable to be outside.  I really do my best to not focus on what Sonzee isn't able to do, or doesn't do, or can't do, but sometimes life seems to get in the way.

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.  

Wrong

Yesterday was a big day in our house as we celebrated Sonzee's baby brother's first birthday (officially it is Wednesday, although I am still in denial how that much time has flown by already), and her biggest brother had his final championship game for ice hockey (that we did not anticipate his team qualifying for).  It was a jam packed day, but filled will the typical chaos that comes with life of multiple kids; except for the fact that overshadowing it all was that Sonzee has been sick since Friday with the medically complex version of a common cold and she spent the entire weekend in her room, missing it all.

The saddest part was not even the fact that she was missing from the festivities or that she won't be in any of the pictures from the day, or that she spent the entire weekend rotating pain/fever medications and having constant seizures (which is not her typical "sick routine").  The saddest and worst part of the entire situation was that, I have come to expect this in our life.  The disappointment and sting was not as strong as it once was.  This has happened so many times, it is now part of our typical.  I was just beyond thankful this was one of the Sunday's she happened to have her nurse, so she could stay home and in her room to rest quietly and neither Sam or myself had to miss out on the festivities.  Despite the normalcy of the situation lies still a blanket of guilt.

Guilt that it is okay for us to go on our day without her present.  Guilt that we are used to it.  Guilt that there was relief in having her nurse care for her.  Guilt that life continued to go on without her being there with us in the same room.  Guilt that I didn't cry over the situation.  Guilt that it was better for her to spend the day in her room and not with the rest of us.  Guilt that this is her life.  Guilt that there is nothing we can really do to help her.  There is just so much guilt.

I was partially proud of myself for not letting the situation get the best of me, but partially upset that I didn't.  It continues to be a common recurrence, especially as she gets older and each time I am unsure what reaction is right.  I know nothing about our life is really normal, so there is "not really a right"...but it all seems to wrong.

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If only

It was "one of those days" yesterday.  Sonzee's seizures were nonstop, she cried when she wasn't having them, she slept after she had them, she was in visible pain when she was awake, and she was having a very difficult GI day.  All in all, by 5pm I was trying (unsuccessfully) not to cry by my desk and by 6:30pm I was officially over the day.  I managed to get myself under some sort of calm by adding makeup into my shopping cart and posting an epilepsy awareness post; at least the latter makes me feel like I am doing something to help.

It does not feel like it has been that long since I have been in this position.  The one where everything between the last melt down and the one on the horizon becomes too much for me to keep bottled up and eventually I turn into a New Years champagne bottle being opened.  I know this is all just part of the repetitive cycle that comes with the situation, but I hate when it gets to this point.  Within the next 24 hours I will no longer be able to hold in the tears; it is ok, it is time for them to come anyway.  By Thanksgiving I will have be able to smack a smile on my face and almost feel the same behind the scenes, and by next Sunday I will have pulled myself back together to face the next unknown period of time.

If only this was not the reality.  If only things could be easier for her and I did not have to watch her suffer so often.  If only there was a magic potion that could be created to completely fix the damage that has been created and will continue to be by her mutated CDKL5 gene.  If only I could close my eyes, go to sleep, and wake up to a Sonzee who was born with a complete CDKL5 gene.  If only prayers such as the ones I have relied on for the past 3 years 9 months and 8 days could actually come true.  If only. 

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"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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More than seizures

Today marks day 4 of CDKL5 awareness month.  It is a month I have been lucky enough to honor over the 3 years of Sonzee's life.  The entire month brings similar feelings to that of her diagnosis day; a mixture of gratitude for having an answer to the "why", and pain because of everything that comes with the 5 characters that don't go away when awareness month ends.  Historically, I spend each day of this month trying to balance the positives and negatives that have come with this diagnosis, not wanting to highlight only the bad but trying to give the weight of these characters their due justice.  The truth is while the hallmark of CDKL5 is early onset, difficult to control seizures, CDKL5 is more than just seizures.

Two years ago yesterday Sonzee was finally discharged from a 28 day hospital stay.  It was a discharge we were not sure would occur, and the experience left us jolted to the core.  It was during that stay that it was clear she would most likely never tolerate feeds into her stomach again, 2 years later and those thoughts are pretty much confirmed.  She is still fighting the same battle and we still have yet to figure out how to help her.  That sadly seems to be a recurring theme, and it weighs heavily on me as a mother.  My job is to not allow her to suffer, and CDKL5 makes that nearly impossible on every level.

Sonzee is 3 years and 3.5 months old, yet our 6 month old moves circles around her, almost literally.  She cannot sit, she cannot crawl, nor can she walk.  I am able to say those words without tears now, and we focus on what makes her happy, but the facts still tug at my heart.  I wish for her that she was able to sit, that she was able to crawl so she could get to toys or places she wants, and that she was able to functionally use her hands to request hugs when she wants.  I wish for her that her voice was not locked inside her unable to communicate her basic wants and needs.

I do not need a month to remind me of everything that having a CDKL5 mutation has taken from Sonzee or our family.  I live the effects every hour of every day, and when this dreaded deficiency takes her earthly vessel from us, it will continue to wreak its havoc on those of us who have fallen in love with her over the years.  What this month simply does is allow me to reflect on the significance this string of characters has on Sonzee and every child impacted and share the weight so that I do not have to carry it alone.

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Tug of war

We finally toured Sonzee's preschool yesterday.  I say finally, because we have known since she was 2 months old that we wanted to send her to this school.  We have attended the family program on Friday's over the past 2 years, but have never actually set foot on the other side of the double doors.  We have one remaining meeting in 13 days that will make this next step our official reality.  I am filled with mixed emotions as my baby girl is getting ready to enter her first school.  On one hand they are the same emotions that have filled my head and heart as her three older siblings took these same steps, on the other hand, they could not be more different.

I feel like my mind is separated into two sides and there is a rope attached to both sides, for every happy emotion there is one that makes my heart sad, and I am being pulled back and forth between them.  I am so excited that Sonzee will have the ability to flourish in a new environment, but it is not in the same environment where her siblings are.  I am so thankful she will be in a classroom that is tailored to meet her needs, but she will no longer be home with me every day.  Her classroom while likely to be amazing and will provide her with the tools she will need, is not a typical classroom in any manner.  I am so grateful for the opportunities this school will undoubtedly provide for her and to her, but they are not the opportunities parents wish for their children to have to experience when they envision their schooling.

We walked from classroom to classroom, looking through the glass at the children as they learned.  We started by seeing those children who are developmentally the oldest; smiles across their faces, lights bright in the room, sitting around the table enjoying their snacks.  Multiple teachers and aids at their side helping them with their snack time activity.  As we continued our tour the lights in the classes were lower to help with seizure activity, and the centers were slowly replaced with several types of equipment.  Sam joked that there were easily thousands of dollars in equipment in one of the rooms.  My heart bursting at the idea of her getting to experience incredible opportunities that insurance would never allow us to do at home, but simultaneously hurting at the fact that she needs all the several types.

My baby girl is no longer a baby for all intents and purposes, but she will not be walking into her first day of school.  She will not require a teacher to hold her while she kicks and screams begging me not to leave her.  She won't come rushing back to the door or look at me with a face that pleads with me not to leave her with people she hardly knows for the day.  She won't give me kisses or huggies or tell me she loves me, to have a good day, that she will miss me or even say good-bye.  I won't look through the glass window and see her distracted by an activity, so she doesn't realize I am gone.  She won't glance back to see if I have walked away.  All the first days of school experienced since 2015 that brought me tears as I wondered how Sonzee's would go are about to come to fruition, culminating into the biggest game of tug of war.

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Focus

In 27 days we will be celebrating Sonzee turning three years old.  There are so many emotions accompanying my preparation for this day.  Three years.  It will have been three years from the day our family began the wildest ride of our lives and the day our little bear began a life full of hardships no person should ever have to endure, much less a baby/toddler/preschooler.  It will also be a day we weren't sure she would be here to celebrate with us, so I am doing my best to focus on this as the theme and toss out the heartache that comes with celebrating another year of struggles she will be sure to endure.

I cannot lie, there is honestly so much heartache that every moment is a struggle to remain focused on the fact that she is here with us; simply because of the daily price she pays.  I do not know why it is currently weighing so heavily recently.  I can only attribute it to watching her seize so often and be locked inside her body for her entire life to date.  I have this constant lump in my throat as I force myself to hold back tears over these thoughts, but mama bears heart feels like it has been stabbed a million times, and sadly I know one day it will fully break.  As we get deeper into this journey, it all gets harder to accept.

On paper Sonzee is turning three in just 27 days, but there is nothing that represents that fact if you see her in person.  She is an almost 23-pound, 34 inch three-year-old who cannot sit unassisted, has limited control over her body's purposeful movements, and is nonverbal.  It is not about "needing to focus on the positives", these are simply the facts.  Facts that are making this soon to be birthday celebration a bit clouded.  I wish I knew how to have tunnel vision, but for now I suppose part of this journey is learning to accept what each moment throws at me and deal with it in the best way I can.

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Do not want...

Between Christmas Eve and Christmas as I scrolled through my Facebook news feed I was met with 100's of sweet family pajama pictures.  I absolutely love watching my friends’ families change and grow over the years; each picture I see brings a smile to my face and for a moment I wonder how on earth time has flown by so quickly.  So many of the pictures were posted in our CDKL5 support page and while I may not personally know these families, I know more about them than some of my closest friends' children.  They posted their pictures with a blurb, "Wishing our CDKL5 family a Merry Christmas" or "From our CDKL5 family to yours..." thrown into the mix were those with well wishes to the families in the hospitals, pictures of her CDKL5 siblings on various breathing equipment helping them to survive their colds and infections.  I was nursing little man and Sonzee was in her Rifton chair participating in her typical hand stereotypies, making her noises that express she is not exactly comfortable and the tears filled my eyes.

I am so grateful for so many of the parents who have become more than just people on the Internet.  I am so thankful there is a place to go that has parents who get it in a manner that no one can unless they have a child who has a CDKL5 mutation.  It is a place that when someone types "I am so sorry you are going through this", you know they aren't just words and that they understand the depths of whatever the current struggle is.  I truly am appreciative of our CDKL5 family, but honestly, I HATE that we are part of this family.  I DO NOT want to understand anything CDKL5.  I DO NOT want to know about seizures and the side effects from being on anti-epileptic drugs.  I DO NOT want to witness so much pain, grief, and sadness.  I DO NOT want to HAVE to celebrate inch-stones.  I DO NOT want to know family support groups like CDKL5 even exist.

On December 15, 2010 on the "on this day" memories page on Facebook was a status I wrote that said, "I know G-d only gives people what they can handle, but some things no one should have to handle".  At the time I could not have predicted how true my own words would circle back to express my current disposition in such an exact manner.  I know this journey was given to Sonzee and our family for a(n) (unknown) reason.  I have to truly believe I can handle it in its entirety, but personally, I feel this is just one of those "life experiences" that no one should know anything about.

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When history repeats

They say "history repeats itself", I sadly don't need to look back on my December blog posts for the past two years to know this is true.  Every year (at least since 2015) around this week in December and into the early spring months, there has inevitably been at least one post asking for prayers for a CDKL5 sibling and their family.  I hate to say that I am numb to reading the posts, but sadly I know what this time of year brings to our small knit group.  It is too painful to accept, but this is just part of our "normal"; yet there is absolutely nothing about it that is normal. 

This time of year is supposed to be full of happiness, full of joy, and full of hope.  Yet there are so many families who are full of the fear this season brings, me included.  It is a time for many that is full of the fear of illness and of hospitalizations, and the unspoken fear that this might be the last holiday season our children will participate with us.  Many will say not to think in negative thoughts, to them I will reply these are simply the facts of living with a medically fragile child. 

Lately my heart feels suffocated by CDKL5.  I feel angry that a "simple" change in genetic coding can have such profound effects.  I feel betrayed in a sense that it was my daughter who was one of the "lucky lottery winners", and my family who has to know the intricacies of this type of life.  Every day finding the positives in living life knowing this string of characters is a choice I have to make.  I make this choice because it is what I need to do to survive, but there is so much heartache, so many fears, and so much grief.  Today I am grasping at the positives, but watching as CDKL5 history repeats itself is causing me to fall a bit short.



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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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No longer a baby...

We got up and went to the airport yesterday like we have done many times with Sonzee in tow.  We even managed to get there early (yes, even we are capable of doing that on occasion- we just try not to make a habit of it).  We got through security in our usual amount of time with the typical pat-down and analysis of all the supplies we bring for her.  TSA at Phoenix Sky Harbor is always amazing to deal with and we never have any problems, things just take time.  The truth is, no matter how prepared we are, how accommodating everyone is, or how smoothly the process goes, traeveling with a medically complex child is still extremely hard.

Yesterday was the first time we flew with Sonzee in her convertible carseat, in the past she has been in the infant carseat, so of course, there will be a new learning curve.  We were the third in line for preboarding (Sam and the kids came with us) and we were the reason the plane was four minutes late departing.  I will let that sink in with you for a bit.  It took us the entire time of the boarding process to get her carseat installed correctly and we ended up having to forward face her because the distance between the seats would not allow for the proper recline with her seat facing rear.  Yes, Sonzee's one famous skill is her head/neck control, but it is nowhere near what a typical two year old's ability is or should be.  No matter the various supports I tried, her poor neck was flopping forward.  This was not ideal.

When we finally got her situated, the plane pulled back from the gate.  During the chaos of boarding, the pilot (who actually helped carry our bags onto the plane) placed Sonzee's medical bag in the overhead bin while we organized to make things easier and I never had a chance to grab her VNS magnets in all the chaos.  Naturally, it made sense that during our exact pull back from the gate she would have a seizure and her magnets would be out of my reach.  Again, thankful for being with amazing care, we pressed the call button and the flight attendant more than happily grabbed her magnets and checked up on us multiple times within the 6 minutes it took for us to get to the runway to ask if we were okay to take off.

Thank G-d for the amazing staff at Southwest who never once said anything negative, did anything to insinuate we had to rush and were overwhelmingly supportive during our entire experience.  Like I mentioned previously, this all helps, but the fact is this traveling gig is not what pleasant dreams are made of.  We have medical bags complete with essentially a portable hospital; a pulse oximeter, portable oxygen concentrator, feeding pump and supplies, medications and supplemental supplies that go along with her VNS, not to mention the various other supplies that come with having a toddler who is essentially still a baby.

I guess I had not really considered that traveling on a plane as she got older would be significantly more challenging.  Even with her being in the 2% for weight and height I didn't even bother changing her in the small little fold out table in the bathroom because she is too long.  I think the reality is setting in that we are no longer traveling with a baby, we are traveling with a child who has special needs.


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Reminders

When you find yourself living a life with a special needs child, things that were once "unimaginable" become part of your daily routine, so much so, that your typical does not seem so atypical...to you.  Then almost randomly you have these "aha moments" where you realize just how not normal your life, your family's life and your child's life has become.  For me one of those series of "aha moments" came while preparing for and during our in-home district nursing evaluation to see if Sonzee qualified for nursing respite vs standard respite.  

It is not that I am at all shocked or surprised she qualified for the nursing part of respite.  I am more slapped into reality over the fact that her seizure log from January 25 includes 124 seizures and those are not counting the ones that happened while she was in the PEMU or in the last 16 hours.  It also does not include an exact count of spasms/multiple seizures that can happen during a 5-7-minute event, it is simply representing the number of episodes she has had in the past 3 months.  The fact that this is our normal, our "no big deal" does not faze me daily.  We do not bother with rescue medications because they will not do anything positive for her long term, they will only make her dependent, so our "comfort" is 15-21 minutes a day of her seizing.  I honestly do not even process that the seizures themselves could render lifeless, it is as if the entire concept of what a seizure actually is has fallen on deaf ears.  I am pretty sure this would be a proper time to insert the confused emoji face.

I think about the children and families of CDKL5 children who have lost their lives often, but I do not let it consume me or I would be unable to function.  Then suddenly, the news spreads that another child's body just could not compete with the challenges of a CDKL5 mutation and it becomes all too close to home.  The distance of that reality is no longer so far away and the weight of what Sonzee is dealing with on a daily basis is thrust into the spotlight.  Living with a CDKL5 mutation is not just dealing with developmental delays and seizures, these children are literally fighting just to survive daily.  I guess I forgot that?

I do not know what is the "safer" way of living this sort of life.  For me it has always been best to keep the fear and reality in the distance but aware that we are not immune, however, on the days these reminders float in it takes a lot of strength to remember to breathe.   

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Will it go away?

We spent two days this week at children's hospital of Colorado because they have a center of excellence for Rett Syndrome, CDKL5, and FOXG1.  This was our second time taking Sonzee and I am glad we went.  We learned some new facts that we had not known prior to this visit, for example, Sonzee has a 5% chance of being seizure free in her life (but realistically it's less than 1%), and if she learns to sit by age 3 she will be more likely to walk.  Neither is to say she couldn't ever be seizure free or learn walk even if she isn't sitting within the year or a miracle happens with her seizure control, but the odds begin to stack against her as time goes on.  Luckily for all of us I never planned on seizure freedom for life for her and my main goal is only for her to sit, so even if it happens when she is 10 that would be okay by me.

Parts of this life are getting more challenging to process.  Everywhere I look I see typical 2 year olds, and I can't stop wondering what Sonzee would be like.  Even looking at the other children with CDKL5 mutations I can't help but feel like Sonzee was given the short end of the stick.  I wish she was at least happy and smiley, but she's constantly miserable and in pain.  I'm so worn down from it.  It's one thing to have a child not complete milestones, that in and of itself is devastating, but tack on a stomach with dismotility, feeding into the intestines, constant GI pains, and unhappiness, and that's the life of Sonzee.   

I'm having a hard time with the tube being gone from her face and it has only been 9 hours.  It was my safety net while out in public, it was how I coped with her not being a typical toddler...now it's hidden.  It will only be revealed by the question of "how old is your baby?"...I keep playing with the blue stroller=wheelchair placard I have to make sure it's clearly visible to strangers. I keep placing her feeding tube extension in a location that is noticeable.  I don't like this.  I feel like too much is changing, but not anything is changing and it all makes me feel like things are spiraling out of control.  I'm feeling like I have completely failed her in all areas and I wonder if that feeling will ever really go away...

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Living with rare

80% of rare diseases have their origins rooted in genetics, and 50% of rare diseases occur in children.  Yesterday was World Rare Disease Day.  It is a day that takes place the last day in February every year with its purpose to bring awareness to the 7000 existing rare diseases.  CDKL5 is one of those rare diseases with less than 2000 diagnosed cases worldwide.  Prior to April 2015 our family was unaware of the fun facts the surround rare diseases, facts such as 95% of rare diseases do not have ONE single FDA approved treatment, and 30% of children with rare diseases do NOT live to see their 5th birthday.  The mere fact that a specific day was created to bring awareness to the public and decision makers to eliminate the challenges individuals and families encounter who have rare diseases says enough in and of itself.

Yesterday I wore my grey long sleeve CDKL5 awareness shirt, green leggings, and a jean skirt.  I went about my day as usual, and had the opportunity to pass out two Sonya's Story business cards.  Both of the above were intended to educate others on one rare disease, and let us be honest, it is really the only thing I can do.  CDKL5 is just one rare disease that currently has no known cure and will not during Sonzee's lifetime (sorry but not sorry to write those words out).  It is just one of the rare diseases that does not discriminate who it affects, nor does it spare its inhabitants from vast amounts of heartache.  Sadly, unless you know and love someone who suffers from a rare disease you would spend your life in a blissful state of ignorance (I know, I used to live there).

For the last two years on the last day of February I have celebrated a day I would rather not know existed.  For two years, I have not only learned about CDKL5, but I have become aware of rare.  For two years, I have cried over the loss of too many children whose bodies were just too tired trying to fit into a world that is not adequately prepared for rare.  For two years, I have spent some days pleading with g-d, begging for Sonzee not to leave me, and others asking for her to be set free.  For two years, I have walked a tight rope that has changed who I am, but has given me a direction of where I am going to go.  Looking back on the past two years, I guess it makes sense that one four letter word could be defined by both "not occurring very often" and "unusually good and remarkable", because that about sums up living with rare.

**Information was referenced from www.globalgenes.org, and www.rarediseaseday.org.

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Pieces

I am always in awe of how the brain works.  I never really appreciated parts of its inner workings until watching a baby have frequent seizures.  I honestly "forgot" some of the emotions and thoughts that I used to have when things were the way they are now, and when they were worse.  I am not sure "forgot" is the most appropriate term, more like I didn't realize how much protection your brain can offer to you as a shield of sorts.  It wasn't until yesterday afternoon when I was subcontiously avoiding putting Sonzee down for her afternoon nap that my feelings of fear and anguish triggered the distant memories of familiarity that overcame me.  I had forgotten how much I used to dread putting her to sleep knowing that as soon as her brain was in a deep sleep the seizures would start...and here we are again.

There is something to be said for how the comfort of a familiar situation and the travesty of what that situation is interwine within one another.  The comfort of knowing that she is sure to have a seizure once her eyes close mixed with the fear of the certainty that she will actually have a seizure as soon as she is asleep, it is insane.  How are we already back in this situation?  How did her honeymoon already run its course?  How come she never even had the chance to gain any skills?  Why so soon?  I shouldn't be sitting here with wine in a tumbler and tears in my eyes while staring at her monitor praying that she won't be woken up to another seizure since she is sleeping off the one that occured an hour ago.

I honestly never thought she would ever have a honeymoon period.  A year ago things went from bad to worse so quickly that I never entertained she would actually get a break.  After her 8 weeks of high dose steroids she went through many periods where she would not have a seizure for a couple of weeks, never long enough for me to get comfortable...they always returned.  Then in August we started her on Sabril and immediately after her first dose it was as if a miracle had occured.  She spent exactly 33 days and 2 minutes seizure free.  33 days and 2 minutes we never expected but completely appreciated.  After a small medication adjustment she went another 23 days 23 hours and 59 minutes, then 53 days and 13 minutes. I foolishly started to think that maybe some sort of control was within our reach, that we had found her magic concoction and given her an actual chance against her own body.  Then after another 28 days 23 hours and 43 minutes the bulk days of freedom came to an end.  I am so appreciative and grateful that she has had a combined 138 days and 55 minutes since August 19, there are so many of her CDKL5 siblings that have't been afforded this blessing, but my heart is broken into an indescribable number of pieces right now.

I had so many visions and dreams of how much she would achieve when...if she was ever given the opportunity to be seizure free, but none of it happened.  I have always known that seizures were just a result of a CDKL5 mutation, that even without them her development wouldn't be typical, but the realization of what her specific mutation limitations are has hit me like a huge semi truck this week.  This is definitely another valley on this journey....I just didn't realize a week ago that we were at one of the highest peaks.

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"Accept"

I have struggled with the term "acceptance" since we were in the position of learning Sonzee had epilepsy and that it was the result of a CDKL5 mutation.  When you find yourself in this type of situation, your brain and your heart do not always align with one another.  You know deep down what the reality of the situation is, but you think that love or some special power will bring a miracle and the situation will go against all the negative odds.  As you make your way through the journey certain realizations occur that put a halt or just downright stop certain fantasy dreams you might have conjured up, and you start to "accept" that what the situation now is, is in fact, what it is.  A huge problem I have with acceptance is that my brain says, "if you accept this fate, then you have given up", so I find myself constantly torn.

As I have shared, Sonzee will be turning two in a matter of weeks (2.5 to be more exact) and she is unable to sit on her own, she is unable to walk, she is unable to talk, and she is pretty much unable to do most typical things a child turning two should be able to do.  I have put off the purchase of two "big ticket" items for two reasons, 1. they cost a ridiculous amount of money and 2. buying the item makes me feel like I am giving up on her ever gaining the skill(s) on her own.  For two years my brain has told myself that Sonzee would probably sit unsupported between 3-5 years old and walk after age 7 (if she was able to gain these skills at all).  For those of you who might not be familiar with the deficits of CDKL5, those are the average ages that these skills are mastered within the CDKL5 population, if they are mastered.  While I did not expect Sonzee to gain the skill earlier, I dreamed it would happen.  There are plenty of girls around her age with a CDKL5 mutation who are capable of worlds more than she is, so I grasped at the fantasy it might be in her favor as well.  That has not been our case.

Last night I stared at the computer and decided with her birthday money she was given by both of her grandparents it was time to by the FireFly GoTo Seat.  I bought it in purple, and that is important to note because color choices become significant in these situations as they are what make buying special needs equipment tolerable for me.  This is one of those emotional days on this journey as it breaks my heart that she will be two and is not able to sit on her on.  It is one of those days where I "accept" where she is at and I "accept" that this tool will make her quality of life so much better.  She will now be able to sit in a grocery cart, at the table at a restaurant, and in her siblings’ power wheels cars.  Simultaneously, it is also one of those days where I mourn, yet again, where this mutation has led her life.

In addition to the GoTo Seat, I decided to get the FireFly Upsee so that she can feel what it is like to walk.  This is a device worn by an adult and we strap Sonzee in with a harness and she shares the footpads with the adult walking so her body gets the ability to feel what walking is like.  I felt this was the perfect time because she has good head control and she does not weigh that much.  This of course was bought in pink and I am extremely excited to give her this new experience and a different view of her surroundings.  

Two years ago I did not know that the FireFly website existed.  I was blissfully unaware to what laid ahead on our journey of becoming parents of four kids 5 and under.  Two years ago I never thought about seizures, stomach motility issues or small bowel bacterial overgrowth.  I never knew the names and spellings of the most commonly used seizure medications or thought that I would know more about a medical condition than some in the medical field.  Two years ago the life I dreamed of having had different plans for me and so now I will continue to spend the rest of my years working on "accepting" all of the changes.

Twenty Days

Twenty days, two weeks and 6 days, 480 hours, three different ways to countdown the amount of time remaining until Sonzee turns two.  A birthday I am so grateful to be celebrating, yet anxious about occurring.  Her outfits have been purchased and are sitting in our home, yet I sit here with a lump in my throat as I think about Sonzee as a two-year-old, a toddler; merely a year away from becoming a preschooler.  I know I should focus on the positive, but the fact is I am going to have a toddler who does not roll consistently, does not sit unsupported, does not reach out for me, does not talk, and does not crawl.  I am going to have a toddler who does not eat by mouth and who cannot chew solid foods.  My youngest is going to be a toddler and this is not at all how I imagined it would be.

As Sonzee gets older I must consciously remind myself that she is not actually a baby.  If it were not for the labels in her clothing or the fact that her birth certificate is dated 2015 this would be something I would argue.  I watched her in her bouncer as she was chewing on her hand and all I could do was imagine who she might have been.  I suppose some would say that is not fair, and there are some who are more capable than I am at accepting what they are given, but that is not me, at least not today.  I assumed things in all aspects would get more challenging as she got older, but it is one thing to assume and another to actually live it.  It is the latter that is far more difficult no matter how much mental preparation I try to give myself.

Another year of Sonzee's life is about to be in the story books, and it is one that I never would have imagined writing.  So many chapters were challenging to get through, and there are times I look back and wonder how we all made it to where we are today.  It is when I think of those times that I feel even more blessed of what we are about to celebrate.  Then there are the words that have yet to be written regarding her development, and it leaves my heart feeling weighted.  This is one of those times on this journey where the weight of it all sits heavily on my chest and makes it hard to breathe.  I sit here wondering how is it I will have the strength to continue doing this up and down on the see-saw for years to come.  I am sure as the years pass I will look back and think how naive I was to think that "that time" was the hardest.

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Sippy cups and such

I've always considered us fortunate that Sonzee was our 4th child and 3rd daughter.  After all, that left us with three typical children and two other daughters who we could get all the standard girlie experiences with.  I have always felt that by having all four of ours we are "well rounded" because we get to experience all that parenthood and life really does have to offer.  In the past 23 months, I have never felt that I was missing out on anything because I have other children who fulfill those potential voids.  Our oldest is on the competitive dance team, she gives us a run for our money in all ways as we continue to use her as our guinea pig for learning how to parent.  Our son is into ice hockey and is our one big man on campus, so we get to learn the ropes of parenting a boy with him and all the thrills that are sure to come with that.  Our third has been rightfully nicknamed a spitfire and if you know her you are smiling at this reference because this just explains her completely.  A fun little independent ball of spunk who continues to show us we still don’t have a clue at this parenting gig.  With these three you can imagine the thrills and experiences we are getting as parents.  Getting to live through all my older children's activities, personalities, and experiences has always been "sufficient"...and then there was this past weekend.

When you have a typically healthy child who rarely gets sick, but then does and she wants to cuddle and you are already sick you just throw back the covers and invite her in.  As I laid in bed on Saturday morning with child #3, she asked me for a drink of water so I got up and went into the kitchen and found a Frozen themed sippy cup with a pink lid that I knew didn't spill or leak and brought it back filled with "cold water".  After she drank from the cup she started to talk.

M: "This is Laeya's Frozen cup, hers is pink, mine is purple" E: "Oh ya you are right this is her sippy cup" M: "Where is my purple sippy cup?" E: "You know, I am not sure where yours is" M: "Mine has Ana and Laeya's has Elsa" E: "When we feel better we will have to look for your purple Ana sippy cup".

Halfway through the conversation is when the new "aha moment" hit me.  It was as I continued to lay in bed while she drifted off to sleep that it really sunk in.  We can give Sonzee a device to communicate, and maybe (hopefully) she will eventually be able to say (or use her device to say) multiple word phrases to indicate her wants her and needs, but we most likely will never have a conversation about various sippy cups just because.  We won't be sitting in silence only to have it broken by a random conversation of her telling us that she would prefer a Shopkins or Pony birthday party in three weeks when she turns two.  There are so many conversations I realize now that I never thought I wouldn't be having with her.  I have always believed Sonzee's birth position to be a blessing, and yes there is still much belief in that, however, I never considered had she been our first or our only that I wouldn't be aware of some of the things that I would be missing.

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