Chasing

She’s out on the corner trying to catch a glimpse
Nothing’s making sense
She’s been chasing an answer
A sign lost in the abyss, this Metropolis

It has been a little over 2 years since we first and last dealt with Sonzee's GI issues.  We have never really gotten a clear answer as to what is going on besides CDKL5, and the bandaids we have used always seem to fall off.  It has never sat well with me, but after searching in and out of state and with multiple professionals, "You are doing amazing with making the best out of a less than ideal situation" has always been how we have ended nearly every discussion on the topic.  Maybe that phrase is supposed to make me feel better over what little bit I feel we have been able to do to comfort her?  Maybe it is supposed to make me actually believe we have and are doing everything we can for her?  Maybe.

Here we are two years later, no better off, but not for any lack of trying.  If only that made our current situation any different.  We will be having another care conference, and for some reason I feel the same way I did on March 15, 2015 before I realized we were going to live a real-life nightmare.  Finding myself completely caught off guard despite knowing deep in my gut what the situation is.  No idea what I expect to happen but knowing something must happen.  Praying I am wrong while hoping the situation will just fix itself all on its own despite history proving repeatedly that will not be the case.  There is a heavy rock sitting in the pit of my stomach leaving me unsure what best/right choice will lift it and wondering about unanswerable questions.

I will never understand why our Sonzee must suffer the way she does.  I will never stop praying for the suffering to end, despite where that leaves me on this journey.  I will continue to tell myself and attempt to believe there is some real significant meaningful purpose behind all that she has to endure and hope one day it will be visibly revealed and that the bitterness inside me has not eaten me alive by that point.  

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Now

Yesterday was Sonzee's 5-year-old sister's birthday celebration.  It was a planned "girls only" party.  8 girls including the birthday girl were going to spend the morning getting their hair, nails, and makeup done.  My heart yearned for an inclusive experience for Sonzee.  I was apprehensive from the time of booking how this would play out, but I knew it was out of my hands.  I have learned to set the standards high for Sonzee, but to keep my expectations low to protect myself from the potential pain that comes with the "special needs life disappointment".  So, when we arrived at the facility and the girls began to rotate into their respective stations I continuously mentioned that we would try Sonzee, but that it was okay if it did not work out.  I yearned for her to take part without it being stressful for her, without her being upset, and without me wishing the outcome had turned out differently.  

Finally, it was her turn.  I was nervous about how the staffing girls doing hair, makeup, and nails would react to her continuous body movements.  It did require Sonzee's sister and myself to hold her hands and feet to get her nails done due to her kicking her feet around and her desire to want to eat her fingers throughout, but once she realized she was being pampered she settled right down and only got a little nail polish on her shorts and inner thigh.  She did not argue one time while the girl put gel in or combed her hair, or spent time doing a french braid side pony tail.  She loved the glitter shower at the end.  I helped make a beaded necklace with her, to be honest she was not overly thrilled (but those beads are tiny, and I honestly do not care for the patience it takes either).  She danced with her sister, and it brought me such an immense amount of joy watching her be included.  The staff included her, the girls included her, her sisters included her.  My heart was not prepared for the amazingness that occurred.

Lately things have not been the best.  We try to focus on the positive, but the weight of CDKL5 has been increasingly heavy over here.  There is the false sense of security because things have been going okay with the big picture, but the little things are what make the floor fall out from under us in an instant.  When will that happen?  The uncertainty of everything remains only a small thought away, and it takes a toll the further into this journey we travel.  It is easy to get caught up in that ball of yarn.  Yesterday while celebrating the past 5 amazing years I was reminded about happiness and joy.  I was reminded that life passes by in an instant and it will not be slowing down.  I was reminded about Sonzee-stones, simplicity, and the little things.  I was reminded that there is nothing I can do about the future, nothing I can do to fix the past, and that I need to be present in the now.

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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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Planning

Something that I have had difficulty with since Sonzee has been planning anything.  Life has been handled in more of an hour by hour manner which is both helpful and stressful at the same time.  I miss being able to look at the future and mark things other doctors appointment in my calendar.  It is not just that we don't know how things will go with Sonzee, it is also the mere fact that I have limited capabilities of processing things in the future and or having the energy to plan.  However, currently things have been calm.  **I might regret writing those words or even thinking them, but it is our current "now" and it is the truth.  With that being said, I am actually planning for our summer relocation already and I couldn't be more excited!

In 2014 we started a summer tradition to spend a month in New York.  In 2015 we unfortunately had to cancel after Sonzee began having seizures and our fear that they could turn into infantile spasms while we were away.  After missing that summer away, we decided as a family that in 2016 we weren't going to let anything stop us from the much needed and wanted summer away. We thankfully were able to pull life together enough to escape to upstate New York Sonzee finally escaped from the hospital in June.  I am beyond stoked that our tradition will continue in 2017 (G-d willingly).   I have marked the dates on the calendar,  have begun to fill out camp paperwork, sent in our request for the rental property and have even began the initial phases of planning our mini trip at the end of July.   

I know that things can change in an instant, but I am taking full advantage of our current calm as well as my renewed desire to plan.  I don't know if planning this far in the future is my brains way of ignoring the decisions that need to be made within the next couple of weeks in regards to Sonzee's feeding tube and formula changes, but regardless it is a nice distraction.  I have missed my type A personality and I'm so happy she is back for a visit.  I don't know how long she'll stay, so I intend to exhaust her for as long as I can.

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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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Resolutions

This morning despite Sonzee's friendly demeanor I decided to take her to the parent-to-parent group that meets on Friday's at the Foundation for Blind Children here in Phoenix.  Full disclosure, Sonzee really doesn't care for the introductory 30-minute music class and only 30% of the time enjoys the centers, because she would rather cuddle with Miss Barb or be pushed in her stroller by Mr. Justin until she falls asleep, so, we really go for me.  I have formed some amazing bonds with the Foundation staff and the parents I have met have become invaluable resources whom I feel like I have known my entire life.  There is a comfort to being around people who "just get it".  Today in the parent meeting we were asked what (and if) we had a new year’s resolution, and when it was my turn I replied that I don't/didn't make new year’s resolutions.  Later, as a general follow up question it was asked, "if you don't make a resolution, why?" 

Since this parent meeting to me is a safe place to let out all my thoughts I jumped on the opportunity to share my reasoning.  About three words into my reason I realized the tissue boxes located on the center of the table (that were kindly pushed to my direction) were going to be necessary to finish my thoughts.  I honestly cannot remember if I made resolutions prior to Sonze, but I am fairly certain it has never really been my thing.  In general, if I want to accomplish something I don't need a new year to make me do it, and if I have no intentions of doing something, then creating a "goal" isn't going to motivate my (lack of) interest in making the goal be completed.  Since Sonzee however, I have found that it is just far too painful to make any type of goals or plans on a broad level because then I am left with such a void and heartache within me if they are unable to be completed.

There are so many things that I wish I could do better, but I also know I don't have the energy or willpower to get them completed.  While it would probably feel rewarding if I did set my bar high and complete a task (such as making dinner every night of the week, packing lunches for the kids, being on time to appointments, you know do what every mom should because she is a mom), I am just don't have the wherewith-all to do them.   I am incapable of these "basic mundane tasks" since Sonzee's lengthy hospitalization in May.  Sure, it would be great to hold myself to a higher standard when it comes to being present every moment of the day, but my heart isn't always in that.  I cannot explain it, but my energy level is typically around a "blah".  Having Sonzee has broadened my horizons in so many areas, and living in the day to day with no set expectations is the only way I can survive.  I would rather withhold my participation in resolution making until it won't be setting myself up for failure.

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3am

It is 3:00am and little bear and I are awake.  Lately this has become our middle of the night routine, although the time varies.  Tonight it has been since 2:19am that I heard her breathing change and she made a noise, the type that makes me second-guess her seizure freedom so I run to her crib.  False alarm, little bear is only participating in one of the other fun-filled side effects of having a CDKL5 mutation, sleep disturbances/all night parties.

I put on her red ladybug starlight figuring that since she is awake she might as well take full advantage and work on her vision (and hoping) this will keep her from wanting me.  The time passes and her breathing changes, I of course get up every time (reluctantly because I am scared each time will reveal that in fact she is seizing) and each time (thankfully) she is just chewing on her fingers or sucking her thumb.  Regardless of how many times this continues I cannot seem to shake away the worry and feeling from the pit of my stomach.

As usual in our house both of her sisters seem to be woven into her and of course it has turned into a full on party with little girls calling for us or wanting to cuddle.  (Thank g-d little man loves his sleep far too much to join in).  I have gotten all three back into their respective beds, but I know for sure I will not be back asleep anytime soon.  It is 3:11am, little bear has now kicked off her blankets, and she wants me to put them back on.  I tuck her in (again), give her head a rub, and a kiss, and turn off her ladybug light telling her it is sleepy time.  She literally chuckles at me, makes a little protest, but obliges.

Back in my bed I listen to her breathe.  I know no matter how content and quiet she is I honestly will not fall back asleep until she does.  As if sitting here awake will change whether she has a seizure or not.  I have decided that no matter how long this streak continues, the further in we get, the worse the heartache will be when it is over.  I have tried to create ways to protect my heart, but I know there is not anything I can do to cushion the potential blow.  It is 3:17am; she is not showing any signs of wanting to resume her slumber, despite her bodies attempt to let her know by yawning that maybe sleep would be a fantastic idea.

The worst part about her middle of the night shenanigans is my mind has nothing to do but run wild and free, and it is exhausted so you can only imagine the places it goes.  The silence is a conniving place, you would think it would bring about peace and contentment, but after almost an hour, I have still not recovered from the initial panic and fear her wake up brought me.  It is now 3:27am, every so often, she starts to talk or she gets ultra-excited and starts to kick her feet, I would love to know what she is thinking.  One thing is for sure it has nothing to do with going back to sleep.

Are you done?

Ever since Sam and I married, we have been asked about having children.  First, it was "when do you want kids?”  If you know me at all, you know that I have wanted kids since I was a little girl, so that was an obvious answer.  The next question was "how many?”  I am unsure if Sam and I had a concrete answer at the beginning.  As a child I had always envision between four or six, because five is an odd number.  With each child, we added into our family we would stop and consider what changes an additional child would add to whatever our current situation was.  Then we were given Sonzee.

Prior to Sonzee, I honestly never really considered that we would have a special needs child.  Being in the field of speech language pathology, I was not even really fearful of having a child who might require additional attention, but then again I had never heard of CDKL5 prior to April 17, 2015.  

When I was pregnant with Sonzee, we thought for sure she was a boy.  We had two girls already and only one boy, so obviously this baby was a boy.  I spent an entire eight months envisioning a "girl’s room" and "boys room".  It only dawned on me a month before she was born that this baby could very well be a girl.  I nearly had a panic attack trying to figure out how we would be putting three girls into one bedroom.  (I suppose I should thank G-d for solving that problem).

When we were asked if we would have more children we would joke and say "fourth and final".  I wanted to put that on a sticker for my maternity pictures, but Sam said, "Don't do that, because what if we have another and then that child thinks he/she wasn't wanted".  (No, I am currently not expecting, but I suppose that was some decent foresight).

Prior to Sonzee being born I think I was undecided if I would "want" a fifth child, but I was fairly “certain" that we would be good with four kids.  Six is a nice solid family number, four is an even number of kids, and it would be the "perfect" family.  Now we have Sonzee and three other amazing children.  Yet when I am asked, "are you done?" my reply is not so straightforward.  "Undecided" is my typical response.  

I know I do not owe anyone an explanation as to why we would or would not want another child, but I often struggle with what people would think since we already have four kids and one is special needs.  Would our choice to have a fifth make people think negatively of us?  Shouldn't we just be happy with the kids we already have?  I struggle internally as well.  There are so many positives to having another child, but also so many unknowns.  

I personally do not worry about whether another child of ours would have a CDKL5 mutation, anything is possible, but it is not a hereditary genetic disorder in our case.  Could another child have a disability?  Sure, they could, but that would obviously be what was in the cards for us.  Are we crazy?  Well I would say yes since we have chosen to have four kids on separate occasions.  (Insert stick out the tongue face).

Usually I wonder about my older kiddos, but they have mentioned to us about wanting to have another sibling on multiple occasions.  Would Sam and I get a chance to be better "first time parents" in a sense?  (There would be nothing taken for granted that would be for sure).  What if Sonzee had a bad year the same time a new child was born?  So many questions to siphon through, so many answers we might never get.  Nevertheless, since everything often circles back to Sonzee, what I have been sitting here meddling with is maybe becoming a big sister is something we need to add to her adventure list?!

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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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Some things do get easier

When your child receives a diagnosis such as one as involved as CDKL5 it is easy to get swept away in fears, doubts, and worry towards the future.  You immediately want to take the disorder by the horns and defeat it...there might even be a part of you that naively thinks you can.  You immediately go into "fix-it" mode.  Wrapping your head around the fact that fixing things is simply impossible is one of those concepts that is more challenging to "accept".  I can say for me at this point when I look toward the future I don't ever see myself being content with  not being able to do whatever I can to fix the effects of an incomplete CDKL5 gene, but I am learning that not everything needs to be "fixed".  

When Sonzee was first diagnosed everything to me about her future seemed to be equally depressing.  I would look at the older kids who also had the diagnosis and wonder if Sonzee would present with the same physical delays.  It was honestly really challenging to look at my 2-month-old baby and picture that her body would grow bigger, but her capabilities would remain the same as they were.  

As her journey continues to unfold I am less and less phased by her physical limitations but watching her having seizures....the seizures are for me by far the worst effect.  As I look toward the future, imagining her in an older form seizing uncontrollably makes my stomach to flips and flops.  I have no other way to describe the feeling other than just plain helplessness and sadness.  I can see how much 15 months of a diagnosis has changed my perspective and feelings and to be honest, it isn't all bad.

A year ago Sam and I took Sonzee to the CDKL5 clinic in Denver, Colorado.  We met other families and they all had much older children.  They were beautiful girls, quiet, content, and in wheelchairs.  There was one boy who was walking around and Sam was eager to learn more about him.  To be honest, we didn't find ourselves wanting to be around the other families, it was really difficult to take it all in.  It sounds so awful, but it was really challenging.  I honestly didn't even realize the psychological toll that it would take on us when I originally planned the visit.  Behind the closed doors during our visit both Sam and I were optimistic as the doctors told us to keep doing what we were doing with Sonzee because she was doing things that "other children with a CDKL5 diagnosis weren't doing".  We wondered if it was simply because Sonzee was the youngest diagnosed child and they didn't have children to compare to her at that age or if in fact, we had a rare gem in the world of CDKL5.  We left feeling a false sense of hope and with a false sense of confidence.  It wouldn't take us long to realize that Sonzee was just like every other child, and she wasn't going to be known in the CDKL5 world because of her extra special exemplary skills.

While it continues to be an inner struggle at times seeing pictures of children who also have a CDKL5 mutation complete milestones Sonzee isn't ready for, a year later I can say that things have actually gotten easier.  If I asked myself a year ago if I thought my mindset would be any different in regards to acceptance I would have told you "no, it won't get easier", but that isn't entirely true.  

On Sunday we found ourselves fortunate to meet with another little girl with a CDKL5 mutation.  Talk about becoming instant family friends (at least on our end).  As we spent time with her parents it was similar to seeing a childhood friend who you haven't seen in years, but instantly pick back up from where things were left off.  The hours flew by as we talked and let all of our children bond.  How special it was that our older children had other children who also have a sibling that has seizures, delays, and are different...but they all have a bond because they "get it".  I don't even know if they realize at their young ages how unique and special their relationship will be as they grow up.  It isn't even a doubt in my mind that they will remain in contact in some way.

Besides the amazing tips and information we took away from our visit, what stands out the most to me is how much I have actually begun to "accept" CDKL5.  **I don't know if full acceptance will ever occur, but this is a start.  The girls are almost exactly a year apart.  Her skills slightly more advanced than Sonzee but on the whole, they were very similar.  As I looked at Sonzee's CDKL5 sister, I could envision Sonzee in another year, it was at that moment that I realized I wasn't phased by what the future looked like.  This time, instead of being fearful about what Sonzee might not be doing I saw the possibilities of what she might be.  Here in front of us was a beautiful 2.5-year-old with a love for belly dancing scarves, who is smiley as can be, and communicates when she is upset and happy.  A happy little girl who is content with just hanging out and who enjoys being on her playmat.  I saw a glimpse into our potential near future and I could easily see Sonzee in her as if I was a pregnant woman looking at a newborn baby and imagining she was mine.  The same excitement and anticipation came over me as it would wondering what my other children will do when they turn a year older.  It was at this moment that I realized that while this journey as a whole is not going to be a walk in the park, there are definitely areas that will get easier.  There is a reason our motto is HOPE-LOVE-CURE, and I don't think I truly understand the meaning behind these words until yesterday, and I owe that to our new extended family in Blue Bell, Pennsylvania.

Different, but the Same

I have been unsure of what I feel like writing these last couple of days.  It is not for a lack of the running commentary through my head, but more of I cannot figure out what thought I want to expand on the most.  As I have been dillydallying on a current post I have been rereading and even reposting some of the ones from last year that those of you new to our journey might not have read.  So much has changed since June 8, 2015, yet so much is the same.  One whole year has gone by and when I look at Sonze for a brief moment, it dawns on me that my 15lb “baby” is just about two months shy of being a year and a half old. 

The reality of how things have changed around me usually occurs after scrolling through my Facebook feed and seeing the pictures of my friends adorable children walking, pushing toys, interacting, and just being so toddlerish cute.  Then that gentle reminder sets in that Sonze either is a couple of days or weeks older, or was born within a month of that child.  I often forget because when I look at her, she still looks like she did when she was about seven months old.  Trust me when I say that seeing these other children does not make me envious, but more it bring out “the curious”.  To be honest it has been awhile since I took that trip down fantasy lane wondering what LIFE would be like if Sonze did not have a CDKL5 mutation, what SHE would be like.  I am pretty sure my brain has blocked this from occurring frequently to spare me of the pain that accompanies these thoughts, because if I am honest, it hurts.

I absolutely adore our little bear’s personality.  It brightens my day when she has one of her “on” days.  The way she smirks, the way she interacts with others, the way she entertains herself, the way she is just a happy and content baby when she is not in pain or bothered by anything, they all create the best Sonzee Bear.  However, if I close my eyes ever so slightly I can see a petit little dirty blonde, blue-eyed girl running and playing with her siblings trying to be part of the commotion.  I can hear her say “aba”, because that is the correct name to learn first in this house, as Sam has trained all of the kids and I do not argue because as a result “aaabbbbaaa” is who they call for at 3am.  (I know, I really am smart)  I can imagine her oldest sister including her in everything because after all, she is her twin girl.  Life would be crazy for so many other reasons, it would be a different kind of joyous, and I would be drinking skinny girl margaritas for other reasons.

Along with these thoughts that I need to acknowledge in order to have some space from them for a while, it dawned on me that soon she will be two.  Time is flying by in a way that I cannot even process.  I used to want time to stand still so I could savor the little moments, so I could bottle up the cuteness that occurred with each child at certain stages.  With Sonze, I want time to stand still, but it is more due to panic.  Panic that if I do not stop the clock, the time will keep ticking by, but she will just fall further and further into the rabbit hole.  As time goes by, she will continue to get further from the expectations of her age.  While I accept what a CDKL5 mutation does to a child’s progress, and while I will love Sonzee no matter what and I will support her development whichever ways it occurs, my heartaches for the things that will be different, but exactly the same.

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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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Dealing with "It"

I am currently riding at the bottom of the coaster.  The part right after the steep drop and right before the track begins to quickly twist and turn, and you find yourself unsure which way is up or down and where exactly you are in relation to the start and finish.  The part where you take a second to regain focus and grip tighter on the harness because your stomach is in knots and you aren't quite sure what you are feeling or thinking.  The part where your mind is almost blank because even that is disoriented and needing a moment to find itself.  It is safe to say I do not like this portion of the coaster at all.  In fact, if the coaster could stop so I could walk to the emergency exit it would be greatly appreciated.

This part of the coaster in relation to this journey is one that today I would say I dislike the most.  The part brings on doubts, clouds my judgement, blurs the future, and makes me one hot emotional mess.  The type of mess that really doesn’t care if I am out in public with visible red eyes, dark circles, and others might be made to feel awkward when they look at me because they can see the pain on my face and tears in my eyes.  It’s the part of the journey where the words “I don’t know how you do it” make me think in my head and want to say aloud, “It’s all a façade, if you ask me something specific I am going to hysterically cry right in front of you and you’ll see I am not doing “it” at all”.

Let us have a moment of pure unfiltered honesty.  “It” sucks.  “It” hurts.  “It” is awful.  I would not wish “It” on my worst enemy.  “It” is so indescribably difficult.  I wish “It” would not leave me feeling empty, guilty, or unsure.  I wish “It” would not cause me to doubt every decision we have made or cast a shadow of doubt over the past, present, and future situations.  I wish “It” did not result in some unfair decision that ultimately came down to choosing the “best of the worst”.  I wish I was not having to deal with “It”.

It has been 15 months since Sonzee came into our family.  I wish I could say that we had blissful moments as a family of six that were rudely interrupted by seizures, doctors, and illness, but that is not the case.  20 minutes after she was born we were thrown into “It”.  15 months of facing the most challenging experience of my life.  15 months of continuous unknowns.  15 months filled with more ups and downs than a person should have to psychologically deal with in one lifetime.  The very worst part of “It” is that I do not want “It” to ever end.  

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Keep going

I am pretty sure it was quite obvious that by the end of last week I hit a personal low.  Those times are never easy to acknowledge or admit aloud, but thankfully this blog and all of the support that accompanies it has allowed me to really feel and embrace the emotions that come with being a parent of a child who has special needs.  There is always beauty in this chaotic and insane life I am a part of, but some days I do not want to see it.  Some days I just want to schedule some me time to wallow in self-pity, eat unhealthy foods, drink a glass a wine (or a frozen margarita) and just feel all of the pain that I work so hard to keep bottled up inside.  I feel like every once and a while it is okay to take a day to feel sorry for myself, but then I need to come back to reality and embrace the position that I have been placed into.

It is usually after I experience the darker days that I am more rejuvenated to get back on the horse.  I feel a sense of eagerness and excitement to tackle the tough times, embrace the joy, and celebrate the tiniest fetes.  It is as if my old blood has been replaced with healthier more positive blood that helps me to better function.  Once I "return" there is a sense of ease that sits within me, a new appreciation for the role I am playing in this life.  It is at this point, where I give in to the fact that I have no control over what the future holds and I just need to buckle up.

After a year, I can say this is my favorite part of the coaster.  The part right after the harness comes down across my chest and I tug it slightly to ensure it is secure and the coaster car pulls away to embark on the slow ascend to the top.  This is the part where I get to dangle my feet and think about everything that lies ahead with a sense of eagerness and slight tinge of fear.  The part where the course of the coaster is unknown but knowing deep down it is sure to be a thrilling ride.  It is during this time that I feel every emotion in me, but the sheer energy within me brings about a huge smile.  It is at this point when the Rascal Flatts song "Stand" fills my head and I just have to brace myself for the descent of the coaster.

"when push comes to shove

You taste what you're made of

You might bend till you break

'Cause it's all you can take

On your knees, you look up

Decide you've had enough

You get mad, you get strong

Wipe your hands, shake it off

Then you stand, then you stand"

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A Bucket List

There is a sense of urgency that occurs when your child has a diagnosis that has an undetermined length of life expectancy.  It is really odd when you think about it, because essentially isn't that what we all have?  No one knows when it will be our last day here on earth, yet the majority of us continue with our daily life as if we have a full 100 years to complete our desires.  It is probably safe to say that unless you or a family member has been diagnosed with a terminal illness, you are not living your life as if you were dying.  Sure as you grow older you may realize life isn't going to last forever and so you go on more vacations, you tell people your true feelings, and you may do more of what makes you happy.  But why does it take living half of your life or having a less than desirable outcome to make you realize NOW is all you have?

I have been thinking about all of the things I have wished to do my whole life; travel the world, go on a zip-line, own two homes, (my list goes on) and it made me start to think about what I hope for Sonzee to complete in whatever time she has here on earth.  Of course with her disorder we really don't know how much time she has remaining, and while yes any day could be our last, for her, it might come a lot quicker than any of us are ready for.  I don't want to have any feelings of regret for her.  I don't want to wish that she did more.  So, I have decided that Sonzee needs to have a list of goals for her to start working on completing.  Luckily, for her three siblings, this means that they too will get to benefit.  It should not have taken until my fourth child, nor should it have required her to have a CDKL5 diagnosis for me to have my "aha moment", but here I am.  

I could google bucket lists all night long, but I would much rather that Sonzee have her storytellers to help her complete this task.  I would love you to reply to this post via comments, email, Facebook messages, etc. with what you think should be on Sonzee's bucket list.  There are no restrictions, no limitations; all suggestions are greatly appreciated.  We thank you so much for your support and I cannot wait to publish the outcome!

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It sucks

Here I am, again, finding myself writing the words "Sonzee has lost another CDKL5 sister".  Each of the girls that we have recently lost has affected me for different reasons.  It just goes to show how one person is capable of so much.  It is also a great representation that even though these girls share a similar genetic presentation, they are all unique and special individually.  Our most recent loss was of little 4 year old Dani, who while not "officially diagnosed" with CDKL5, presented with all of the same attributes as a child with CDKL5 and was awaiting a formal "acceptance letter" from results of her genetic testing.  

Her family had just moved to Phoenix and her mother and I had been in daily communication recently discussing providers and talking about the girls.  I was so excited about forming a friendship with another mother who has a daughter only a couple of years older than the bear that I could spend time with, who has been on a similar journey, who just plain "gets it".  I am still looking forward to what will become of our relationship, but I know at this point in time, her family has to work on developing their "new normal" without their precious Dani.

This just plain sucks.

Why on earth does anyone have to bury his or her child?  I will not ever understand it and I do not think I even want to.  I just know that despite the numbness I feel when I hear another child with CDKL5 has passed, there is an indescribable pain in my heart.  It is a pain that I am sure parents of a child with CDKL5 understand, but others might not.  I have said before how challenging it is to be in this position, trapped between the present and hopeful future.  It is challenging to keep hearing that these other precious children "are not Sonzee" and to rationalize the differences.  It is frustrating having to explain that even though I am hopeful for Sonzee's future, and even though, yes Sonzee is different, I am not naive enough to think we will be special enough to avoid this path.  I know some of you are thinking, "You don't know this is true", "Anything can happen to any of your children"...you are not incorrect in your thoughts, but whether you want to believe it or not...neither am I.  

This just plain sucks.

I do not hate CDKL5 because as another mother of a CDKL5 sister so accurately put it, it is part of our children.  It is what makes them who they are.  It is what makes Sonzee unique and special.  

However, it just plain sucks.    


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Tough Choices

There are certain conversations you can imagine having with your spouse when you first learn you will be parents.  You discuss your opinions of learning the gender of your child prior to birth.  You each offer a list of names that might be suitable for your unborn child.  You discuss schooling and potential activities he/she might participate in.  You talk about desired traits you hope they have and the ones you hope skip to the next generation.  After you have a child or two the conversations slightly change, but they are still based on your hopes and dreams for the new child and you may talk about how all of your children will interact together.  As your children continue to grow your conversations may shift, but the basic premise stays the same.  Until that time your fourth child was suffering from an incurable disease and the topics shift and become....morbid.

Never in my life did I ever imagine that my dinner conversation with Sam would turn into a discussion of "quality vs quantity of life".  I also never anticipated that our differing views regarding "what happens if..." might one day actually have to have an answer we are both in agreement with.  These discussions while hypothetical might actually become our reality and I do not think we are really on the same page.  These discussions need to be had now when we are not caught up in a moment, when we are not pressured into actually making the hardest decision(s) of our lives.  We need to make sure we are both at peace with whatever discussion we come to, and hopefully neither of us will feel slighted.  I am frustrated that we even have to discuss these matters because IT IS NOT NORMAL.  

I have decided that I have obviously overused the phrase "I can't even imagine" during my life, because G-d has so kindly placed me into situations where I no longer need my imagination.  My reality is filled with happenings others tell me I should avoid reading about.  Even if I could "shelter" myself from what is occurring in the lives of families with other children who also have CDKL5 mutations, I would not want to.  We are all a family.  We are all in this together, whether we like it or not.  Our children face different hurdles and have different circumstances, but the outcomes do not differ all that much.  We all make what we feel are the best decisions for our children and family that "help" us walk along the path.  

So as always I find myself asking, "How do we prepare".  Is that even possible?  Maybe I have a false sense of security, but if we are armed with answers to the tough questions, I feel like things might be "easier".  In all honesty, what actually scares me is that if we are placed in a situation where our views differ from one another, one of us will obviously be left feeling resentment towards the other.  I am just not sure how we find the grey area when the answers are either black or white.

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One Week

A lot can happen in just one week.  For Sonzee, one week is the amount of time she spent in the NICU after she was born.  It is the length of her first hospital stay the first time she was admitted for what I was certain were seizures.  A week is the length of time that goes by when we add up and tally the events of her seizure log.  A week is the amount of time that is left before my baby is no longer considered "a baby" in terms of her age.  In just one week, I will put my baby to bed and she will wake up "a toddler".  I am so torn with my emotions.  

On the one hand, I am so excited to celebrate HER and her birthday.  I cannot wait to celebrate ALL that she has overcome in the previous year of her life.  I am looking forward to the new year ahead and all that is in store for her specific cognitive, emotional, and social development.  I am so overly excited that we have her here to celebrate this day with us.  These are the facts that I try to focus on, that I try to repeat in my mind as her first birthday continues to creep closer, because there is the other hand.

On the other hand, her birthday is a reminder of the milestones she has not yet accomplished.  It is an unfriendly reminder that the goals that we created for her are still not mastered.  My soon to be toddler is unable to sit unassisted, and truthfully, even assisted she has difficulty.  My almost one year old does not have any words to communicate her wants or needs.  My soon to be one year old cannot hold her head up while she is on her tummy for more than a couple of seconds and she cannot crawl.  When she wakes up on her birthday, she will still look like a tiny 6-month-old, but she will be ONE.

In many of the ways, the blank canvas of her year to come is no different from any other child's, but in many ways, it is.  I am fearful of the year that lies ahead.  I dread the awkward looks and uncomfortable situations that will follow after people ask me her age.  I am scared for the new medical experiences we are going to be facing.  I am nervous about her first surgery and if it will be her only one.  I am petrified for what is in store for her seizure activity and all of the other things I do not even know are to come.  

At the same time, I am anxious to see if the ketogenic diet and RSHO control her seizures enough for us to wean off her remaining pharmaceutical.  I am optimistic that this year will be amazing for her growth in all areas.  I am excited at the potential of meeting our baby girl who is trapped inside her body.  I am eager to see if this year will be the year we can check off some of her milestones.  

In one week, I will decorate our bedroom door, where Sonzee sleeps, as I do for all of my children on their birthdays.  I will place a sticker on her onesie that says "12 months" and take a picture of her in front of the chalkboard sign in our playroom.  In one week, I will sing happy birthday and give her a keto-fied cupcake for her to taste.  In just one week, I will give her a present that she will hopefully find interesting and enjoy.  In one week, family will fly into town to celebrate a year that has gone by that was unlike any other our family has experienced.  We will gather around the Bear and celebrate all that she has accomplished in 12 months of life, and look forward to all that she will accomplish in the year to come.  In one week there will be a lot of smiles as we celebrate this joyous and momentous occasion, but truth be told, at the same time, there will also be a decent amount of tears.

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Failure

It goes without saying that parenting in general is not easy.  It also goes without saying that being a special needs parent is a completely different experience.  Where I feel I slack in parenting my typical kiddos it does not feel as disastrous as the areas I feel I may slack with Sonzee.  With my typical kiddos I am confident that the decisions I make for them (whether my kids are happy in the moment or not) are not going to cause them to need any additional mental therapy to what they'll require as adults just being products of Sam's and mine :-).  When it comes to Sonzee, it is ALL different.

This morning I started feeling bummed about the bear's desire (or lack thereof) to participate and engage in activities to help with her development.  Sam and I decided awhile back that we would follow her lead and if she was not going to be on board, we were not going to force her.  We have truly been embracing the concept of celebrating her daily presence more than what her physical capabilities are.  I have been content because she has been content.  This morning however was one of those mornings where I was derailed.  I saw another child who has a CDKL5 mutation do things I can only dream Sonzee to be able to do.  Naturally, I immediately took the bear and started trying to make her to do things that she is just not ready for.  I will summarize the outcome for you; it led to both of us in tears and me sending Sam a text of frustration.

Sam and I do not always see eye to eye.  Half the time I do not even feel like he gets what predicament I am in spending all day every day with her with little to no break.  Then there is a day like today where dare I say, my knight in shining armor (please don't let this go to your head) came home, walked up to me with his arms open for a hug and said "We broke a rule.  We are not supposed to compare her to other kiddos with CDKL5; it is not fair to her.  I know you are upset over what Sonzee is not doing.  I thought we decided we were going to just enjoy her, because the truth is Randi, we do not know how long she will be here.  I know you are frustrated, she is frustrated.  You are not a failure."

The tears welled up in my eyes.  Right there, those words, my EXACT feelings neatly packaged into one five-word phrase.  YOU ARE NOT A FAILURE.  What is it that makes us as parents immediately feel it is our fault if our kids do not do something?  Why do we so critically judge and question our parenting based on singular circumstances?  Why is it we immediately accuse ourselves of not doing enough?  

I have to really start to believe that it is NOT me.  I am doing everything I can for this little girl, and the truth is it may not be enough because I cannot give her a healthy CDKL5 gene, but that is out of my capabilities.  I am doing the BEST I can, the BEST for her, the BEST in this situation.  Whether she is unable to sit on her own, whether she is unable to crawl or walk, or whether she is never able to sing and dance, none of those things will be the result of my failure as a mother.

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