Tuesday, August 7, 2018

Firsts

Yesterday was Sonzee's first day of the 2018-2019 school year.  Since she does not wear a uniform she of course was wearing an adorable "first day of school" outfit, complete with a rhinestone centered hair bow.  She took her first day of school picture in front of the chalkboard wall in the playroom and when it came time, she was escorted by an entourage into her classroom.  Since she attends school with her same at home nurses, I am left with little to no anxiety about the process.  We found her cubby, placed her items inside, explained to her teacher the stationary note I will send to school daily to keep her updated on how things were after the previous school day and the current morning before school, gave Sonzee a kiss, and off we went.

I walked down Utah Dr (which is the street in her building that her classroom is on) while I saw and heard the sounds of a more "typical" drop off experience.  Children sad to see their family members leaving, parents quickly running out in hopes that it would make it easier for the distraction to begin so their child would calm down, and me too preoccupied to give anything a second thought, while trying to hurdle the other kids I had with me out of the building so we could get to our next checklist item.

Due to every school day this week being a half day, a mere 2 hours and 45 min later, with the entourage in tow, we went excitedly to hear all about Sonzee's first day.  Maybe it was because of how wonderful things were last year during school, I did not give any thought to the possibility that her day would or could go any other way besides perfect for her.  I honestly do not know why with all of discomfort, cries, and pain she has been experiencing at home, I assumed that being away from home and back in school would make her magically better.  I do not know why I was taken off guard when her nurse told me how miserable she was and how she wishes something would work for her because she cannot spend her days like this.  I know all of this.  We have been living it all summer.  We have lived this so many times before.  


Last night as I sat thinking about Sonzee's first day of school I was brought back to a position of frustration.  Frustration that yet again, another first for her has to be tainted.  Frustration that another day for her was spent in pain and that we are failing her by having no answers or giving her any relief.  Frustration that this has become our normal.  Frustration that whatever band aid we do provide will likely result in more pain in a different way.   There is not winning and no matter how much normalcy we attempt to provide for her, it is nearly impossible for her to just experience a first. 

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Friday, August 3, 2018

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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Tuesday, July 31, 2018

Packing

Over the past two days the townhouse we have been renting has been filled with half filled plastic bins, boxes, and suitcases.  The last loads of laundry are being completed, counters wiped down, and floors swept.  I have been putting off packing until the absolute last minute because I am not exactly ready to leave.  My mind knows that I cannot stay here forever, but there is something about this place that has my heart, I think it is the combination of mountain air and the most amazing friends we have continued to make and strengthen bonds with over the years.  So today we will walk down the steps of TH49 and drive down Town House Road one final time for 2018, and yes there will most likely be some choking back of tears.  This day every year is always bitter sweet as it marks the end of our summer retreat but paves the way for the next 10 months. 

I am always amazed at how quickly 6 weeks passes by.  Sonzee made it another summer with minimal interventions required.  She got to spend time in the pool, outside, bouncing in her bouncy seat, and relaxing.  I will be honest, she did minimal therapeutic activities and minimal work.  We can just pretend that her eyes were patched daily and that she worked on weight bearing after the 2nd week.  She did get 40 nights of sisterly snuggles, naps in the arms of Sam and myself, and a multitude of conversations with so many people who care about her.  She went to a new amusement park, returned to familiar places, witnesses a couple family lip sync contests and dance offs, and got to meet new people.  Her GI issues earned her a visit to the local hospital ER, but luckily she was not given a tour of the actual inpatient rooms.

Overall, in my eyes, I know her summer was a success.  This is small town in New York has turned into our safe zone, the place where reality is muted and life adjusts to a calmer, slower, and serene way.  So today we will pack up our bags and memories from summer 2018 and hope that google photos and my mind will do them justice and carry us through the tougher times that will inevitably come our way. 

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Monday, July 23, 2018

8 days

Our summer in NY comes to a close in just 8 short days.  I am wondering how some days feel so long but time continues to pass me by with record breaking speed.  By the end of this week Sonzee's oldest brother will have turned 7 years old and her youngest brother 8 months.  I would pray for time to stand still except for the fact that for the next 8 days I can confidently say that Sonzee will be uncomfortable and in some sort of pain, and so each day is one day closer to being able to address her needs in a more suitable environment.

I wish I could say that once we return home her issues will be remedied, but I am more realistic, and we have danced this dance a time or two.  In the recesses of my mind there is hope that our next solution will be successful, but it will not come without a hefty price tag of potential yet guaranteed challenges.  While Sam and I are finally on the same page, the pit in my stomach, weight on my chest, fear in my mind, and pain in my heart are all too much to handle. 

This summer as usual has provided the support I have needed to rest and recharge so I am able to tackle what inevitably lays ahead.  It has allowed me on a certain level to ignore life and choose what we want to focus on.  Being away has kept me from emailing doctors daily, kept us out of inpatient stays, and allowed us to provide some semblance of stability for Sonzee's siblings while keeping Sonzee as comfortable as best we could.  We have 8 more days to live in our version of fantasy, to go on our 3rd annual trip to Hershey Park that Sonzee's siblings have spent a year anticipating, and to continue creating family memories.  So while the next 8 days will be filled with bitter sweet moments we will do our best to highlight the sweet ones and overcome the bitter ones.


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Tuesday, July 17, 2018

Given

Last night I heard one of the most heartbreaking stories that happened to another person and their family.  It made falling asleep even more challenging for me, and that is typically not one of my strengths in general.  While texting with a friend, my mind started racing with a ridiculous amount of thoughts.   Among them was "g-d only gives you what you can handle".  We finished the conversation with me saying "thank g-d I clearly couldn't handle that, because we know how g-d likes to give me what I can handle". 

Honestly, I am one of the first people to roll my eyes when someone says "g-d only gives you what you can handle", and in 2016 I wrote a post about religious doubts and how that statement didn't make me feel so great.  After last nights story I started to think about other circumstances that I personally have not been faced with and the weight of the phrase sat on my shoulders in a different manner.

Not all of us are born knowing what we can supposedly handle.  A lot of us are introduced via various circumstances that we encounter on our own personal journeys.  Initially we are shocked and in disbelief that whatever is happening, is in fact happening.  We wonder how we will make it through, and then somehow you look around and realize you are already waist high in the situation "handling it".  Some situations are "more challenging" than others, but to each person their specific challenge is seemingly insurmountable at the beginning and then people push through and we somehow persevere (however that ends up looking).  I think the majority of us are always grateful for the challenges we are given vs the ones dished out to someone else, because "we couldn't imagine", and truthfully we don't want to imagine.

I am left sitting here today thinking about and being grateful for what I am able to handle, because as much as I think I cannot handle it, there are clearly other things that I cannot handle and I am so grateful I have not been given them to handle.  As for what I have been given...well I think I have enough confidence to admit I am doing a pretty good job at somehow remaining afloat and handling it.

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Wednesday, July 11, 2018

One minute 45 seconds

Lately I have been really struggling with my beliefs and the concept of hope in general.  I do my very best to try and be optimistic but the "real me" is more of a realist, which tends to come across as "Debbie downer".  I can own that about myself, and honestly, I do not feel like I am in a place to jump ship on the "perceived negativity" at this current juncture, because it is safer for me to be closer to the bottom.  When I find myself in one of these lull periods, it is as if I am more receptive to the shimmer of hope that might actually exist.  

In the middle of the night between Monday and Tuesday morning I had what will always remain one of the top 5 moments between Sonzee and myself.  As I went to start her back on her 20 hours of continuous intestinal feeds I turned my phone flashlight on and caught a smirking faced Sonzee looking over at me.  My immediate reaction was a huge smile and of course to begin recording this magic moment.  I honestly do not remember the last time I have felt her portray such giddiness and happiness outwardly, not to mention an actual "dialogue", my heart was literally exploding.  It was near one minute and 45 seconds where my 3-year-old acted like a 3-year-old.  One minute and 45 seconds so genuinely appreciated and not taken for granted that even typing this brings tears to my eyes.


Many minutes, hours, and days spent with Sonzee are surrounded by question marks.  Is she happy?  What is she saying?  Does she understand?  How can we help her?  Is she in pain?  Why are the simple things in life so challenging for her?  Those are just preliminary; my list is far more lengthy and complex.  I often feel like I am drowning with hefty decision making and uncertain repercussions.  Then randomly out of nowhere I am truly given a gift from G-d, as if he knows this is exactly what I am needing.  This one minute and 45 seconds was chicken soup for my soul and will certainly keep me company as we continue through this next phase of uncertainty along this special needs journey.  


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Monday, July 9, 2018

Peek-a-boo

Yesterday we did our annual summer day trip to Kelder's Farm.  My older kids absolutely love berry picking and going on the hayride and trampoline, feeding the animals, and milking the cow.  It is always a fun day and we share the experience with our family friends who have three children; their oldest is older than all of mine, their middle one is the same age as my oldest, and their youngest is a couple of months younger than Sonzee.  Over the years being around their youngest daughter has not really made me sad, just always leaves me in awe thinking of where Sonzee might be if she were typical.  However, this year as she is closer to being three it stings in a different sort of way.

Sonzee's older sister who is 5 has been playing with their youngest daughter almost every day.  They are so cute, and because my daughter is petite, they look close to being the same age, and make the cutest set of pals; hugging each other, laughing, and being silly together.  I was looking back through my pictures from our day at the farm and could not help but feel a pang in my chest as I saw all the pictures of the two of them on the trampoline and holding each other in the smiley-est embraces.  


Those pictures shouted at me "Someone is missing", "She is supposed to be 'Sonzee's friend'", "I should be settling the argument that she could be both of their friends".  It is always these random insignificant moments that crawl into my heart and tug at it in a way I could not have expected.  I have come to know these situations will occur, but since they are unpredictable in a sense, I am never quite prepared for how they will present themselves.  It is on the most perfect fun filled family days that the reality of who Sonzee was not afforded the opportunity to be, sneaks up unexpectedly and says "peek-a-boo".  

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Monday, July 2, 2018

"A cure"

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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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Friday, June 29, 2018

Conference 2018

This weekend is the Biennial CDKL5 conference taking place in Denver, Colorado.  From the looks of my Facebook feed and the parent support page, the majority of our CDKL5 family will be present.  This is the second conference to take place since we have known of Sonzee's diagnosis and the second conference we will miss.  The obvious reason is because the weekend has coincided with our second weekend in New York both times, but if I am honest, the more psychological reasoning is a bit deeper in nature.

I would be lying if I said I wasn't a bit envious of everyone who is there.  A part of me that is sitting here in New York aching to meet all of my virtual family in person and to meet the children and siblings who went with their families.  There is a big part of me who would love Sonzee to be around children who are the most like her, just in case there are times she may feel like she is the "only one".  There is a piece of me wondering if I went if this would be the mom group that I would finally feel like I fit in most with.

Despite my envy of those at the conference, there is a significant portion of me that is not ready to be in the room with so many parents whose children also suffer from the effects of a CDKL5 deficiency.  I cannot physically see so many impacted children, in what would feel to me, a small confined space.  It breaks my heart that this is all of our reality, that such a debilitating deficiency exists.  I just will not ever understand and maybe avoidance is my way of dealing, because I realize more and more every day, I am still unable, incapable, and unwilling to fully accept the diagnosis. 

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Wednesday, June 27, 2018

Drifting

It is the night before the first day of camp.  My kids excitedly packed their bags as soon as they each got out of the shower before dinner.  I am used to doing this act myself, and while the Type A part of me cringed letting them throw everything haphazardly into their bags, I took a deep breath and just observed.  I couldn't keep up with their excitement as I was ensuring they each packed their own sunscreens, goggles, towels, and every other item they will need in their backpacks.  I was glancing over the "camphouse" items for Sonzee's bigger sister and trying not to think about the fact that tomorrow should be Sonzee's first day of camp as well.  I know that Sonzee was able to experience Friendship Circle camp in May, but that is not the camp experience I am mourning tonight.

I found my mind drifting off into the distance, to a life that is not mine; what I would refer to as my alter-reality.  It was there I was packing a 4th backpack with two bathing suits and two towels.  Sadly even in my fictitious reality I have no idea what backpack Sonzee would be sporting or what bathing suit style she would prefer.  I think the saddest part of this daydream is that I cannot imagine anything about who Sonzee would have been had she been the typical child we anticipated.  It almost makes me more angry that I cannot even mourn properly, because this deficiency has taken away everything that I should know about my 3 year old.  I am left simply guessing and insinuating about her personality and preferences, but the truth is, she is unable to tell me specifics so even my dreams leave me anxious about the potential disservice I am causing.

There are nights like tonight where I wish Sonzee's CDKL5 deficiency did not exist.  Where we were just a boring, typical family with no obvious outward struggles and I didn't know anything about CDKL5, childhood epilepsy, or have any significant first hand knowledge about a profound developmental disability.  While this is and always will be the path our family must travel, there is still a significant part of my mind that is traveling an imaginary parallel journey filled with the "could haves", "would haves", and "should haves".


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Monday, June 25, 2018

Summer

Last Thursday we boarded the plane for summer 2018 in New York.  This is our family's 3rd consecutive year and 4th year in general that we we will be spending the summer in the Catskills.  Every year when the summer ends I eagerly await its return, because there is just something about this place.  A change from the hustle and bustle of our typical, crazy, everyday life.  The mountain air, gorgeous scenery, and lack of doctors offices and hospitals gives me enough fuel to keep me going through the rest of the year.  Then when summer rolls around, we gamble that Sonzee will behave and we won't have to visit any doctors or hospitals. For the most part we have been lucky, and even though inevitably our luck will run out soon, the trade off will always be worth it.

We have been here 3 days and I already feel like time is going by way too quickly.  My list of "To-Do's" and prospective achievements for Sonzee are lengthy, and as usual despite the lack of scheduled activities, it does not appear that any of it will be completed.  No matter that we changed scenery, my brain never leaves the chaos and world of CDKL5.  There are medical letters of necessity that need to be written, prescriptions that need to be filled, questionnaires and studies that need to be started and finished.  We just can't seem to escape what comes with the life of CDKL5 Deficiency Disorder.  Yet, the thing about being in the mountains, during the summer, with the entire family is that all of my long lists of To-Do's tend to get pushed off, and I am partially okay with that.


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Monday, June 18, 2018

Epilepsy Blog Relay: Subtle Seizures


This post is part of the Epilepsy Blog Relay™, which will run from June 1 to June 30, 2018.  Follow along!

When our daughter had her first seizure it was not in a way I would have thought a seizure would look like.  It was subtle, quick, and questionable.  I honestly wonder how many seizures in her first days I missed, or how many I saw but attributed to something else.  I often wonder if I felt them in utero, or if her first one occurred right after birth.  In hindsight, the "wonky eye movement" we saw, that was attributed to just being "weird baby" have become her trademark.  So many times her simple eye roll will be missed by those who are unfamiliar with her, and to be honest even those who know her extremely well can still miss these types, or just think she is being sassy.  They are so fast that epileptologists who are not her own have missed them on an EEG.  They happen when you turn your head to pick something up, when you blink, when you open the fridge, or when you rub your eyes.  They are less than a second and look benign.

So many times when I point out a seizure to someone who has just met Sonzee the responses are always the same, "Oh wow, I never would have known that was seizure" and "How did you know that was a seizure?" The worst part about her trademark eye rolls are that they are just as devastating to her brain as her other types.  They tend to occur in clusters, seconds apart, and for lengthy periods of time.  They are the most difficult type for us to stop.  It is this type that resulted in a call to 911, multiple rescue medications, and at the time a new to her fancy diagnosis of "non-convulsive status epilepticus".   

Before 2015 I had never thought about seizures much less known anything significant about how they might present.  Our family has now seen so many various presentations of seizures that our family is quite proficient in identifying most (if not all) types of seizure activity.  It is amazing that our 5, 6, and 8 year old can tell you the intricacies of different types of seizures.  What is so important to know about seizures is that they are not always obvious and they are not what you might envision.  

NEXT UP: Be sure to check out the next post by Abby Gustus Alford at www.livingwellwithepilepsy.com
TWITTER CHAT: Save the date for the  #LivingWellChat on June 30 at 7PM ET.


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Sunday, June 17, 2018

1 in 46,000


One of Sonzee's CDKL5 sister's mom created the image above.  I saw it circulate in our parent support page about 4 days ago and to be honest I kept scrolling.  I am unsure what deep rooted psychological reason it might be due to, but the "easy" answer is just that it seemed almost unheard of to believe 2 children a week could possibly be diagnosed with CDKL5.  It is rare after all, that number makes it feel much, much, much more common.  I let the image go out of my mind for a bit, and then Friday afternoon I reached out to the mom and asked her more about the statistic.  She directed me to the CDKL5 UK FAQ page and then I reached out to another parent for confirmation.  1 in 46,000. 

1 in 46,000, the amount of innocent children, and by default, their families end up learning the ins and outs of living life with a CDKL5 Deficiency Disorder.  This is based on a reliable testing agency in Europe that estimates incidence.  To be honest after I learned this, it just made me angry.  Why is this number as high as it is?  De Novo mutations are the main kind of CDKL5 mutations, meaning that while genetic, neither mother nor father has the mutation themselves and so "no one is responsible", yet 1 in 46,000 times this is estimated to occur.  Do not get me wrong, 1 in 46,000 is still considered "rare", and for comparison sake, the incidence of Rett Syndrome is 1 in 10,000, but welcoming an average of two new families a week to our CDKL5 family just hurts my heart.

Today, like every June 17 of Sonzee's life I will give homage to this day.  It is bitter sweet as I am grateful we have a designated day due to the advances of science, but angry that such a day even has to exist.  This year, our day of awareness coincides with Father's Day in America, and for the first time since 2015, I have not told my kids that today is awareness day.  We spend every day during the year living, breathing, witnessing, and being aware of the effects and impact of CDKL5, so today we will honor Sam and be thankful that Sonzee has an amazing dad and tomorrow we will back to spreading awareness of CDKL5.



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Wednesday, June 13, 2018

Holding

Over the last couple of weeks Sonzee's baby brother had a massive burst with his skill acquisition.  He went from being a little "behind" to right on target with just some little kinks that he will have to iron out as he continues to grow.  He is 6.5 months old and he is rolling around and able to sit on his own for increasing lengths of time.  He is reaching out for and exploring his toys more often and his personality is shining through.  My most and least favorite part of the effects of his current gains is blended into one.  Nothing has ever brought me as much joy as the relationships I have watched develop between my children.  However, this week nothing hurt quite as much as watching my older kiddos run passed Sonzee after they came home and over to their brother, who was sitting up, so eager to see them with a grin wider than his little face could handle.

In one instance I was hit with so many emotions.  They smothered him in kisses and hugs while picking up his hands and getting excited with him.  After close to a minute of watching them interact, I said from behind the counter, "Did you say hi to Sonzee?"  My oldest daughter quickly turned around and went right over to Sonzee and gave her kisses and asked about her day, but the damage was done.  I was not upset or mad at my older children, these situations happen.  I understand what it is like to be drawn to those toothless smiles, the sweet coos, and the reciprocity of a more typical child.  Yet my heart broke for Sonzee.  She had to have known.  She used to be the one they ran to when they came in the door.  Three years into this journey and it amazes me each time I experience something new that brings about the "old" feelings of anger, frustration, sadness, and grief over the loss of what should have been a healthy 4th child.

As this journey continues it does not get any easier, but rather the feelings just ebb and flow.  Some days the weight is almost unbearable and the pain feels as fresh as it did back in 2015.  Then there are times when I am unphased by our situation and "it is what it is".  There is no way of knowing what each day will bring, and I wish I knew in advance because more often than not I am just holding on and barely holding on at the same time.

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Wednesday, June 6, 2018

A wish

I was putting my older girls to bed last night when I decided to ask each of them what they disliked most about CDKL5.  The younger one quickly said "the seizures", and after mulling it over a bit the oldest said "it is sad".  I first asked the younger one, "why do you dislike the seizures?", and she replied by putting her hands up, clenching her jaw, and saying "because you look like this".  I then asked my oldest, "why is it sad?", and I was told "because you cannot talk".  As I am sitting here I am asking myself the same question and I feel like it is similar to being asked, "would you rather be deaf or blind?".  Neither is ideal, both have their challenges, and I would rather none of the above.  However, if I had to choose what I dislike most about Sonzee's CDKL5 mutation my answer would be that she is trapped.

On Monday evening I received an email from one of Sonzee's doctors suggesting we put her back on the pain medication, gabapentin, at a higher dose than last time to help with the visceral hyperalgesia.  What if she doesn't even have stomach or intestinal pain and I am misinterpreting her vocalizations?  What if she is itchy or nauseous?  What if she just has a headache or is dizzy from all of the other medications she is on?  What if she is just a sassy toddler that cannot get her point across and she wants to be doing something else besides what we think she is wanting to do?

If one wish of mine would be granted, I would use it to have a day where Sonya could communicate to me.  A day where we could come up with a system for me to learn her specific movements, facial expressions, and vocalizations so that when our day was done I would still be able to understand her wants and needs.  I would ask her to tell me how she would prefer to be handled during a seizure and how best we could comfort her when it was over.  I would want her to tell me if I have completely missed the mark with my advocating for things I think she wants or my assumptions of her ailments.  There is not much else that is worse than the feeling I have in the pit of my stomach of being wrong about me potentially misinterpreting her discomforts and her being unable to tell me I am wrong.

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Monday, June 4, 2018

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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Friday, June 1, 2018

Dear parents

Dear parents who have a child with a life limiting diagnosis,

I know you are afraid.  You dreamt about this child long before he or she was born, and those dreams did not involve a rare disorder.  Now you have found yourself parenting in uncharted waters, unsure of how your child's particular story is going to end but knowing in the deep recesses of your soul it most likely will end before yours.  Not everyone will understand, not even every parent who has a child with the same diagnosis of yours, but that is okay, your fears are real, and the thoughts are okay.

I know this is scary.  Each day you wake up wondering if today will be your child’s first time completing a long overdue inch-stone, or the last time he or she will make an attempt.  You do everything you can throughout the day to ensure that if tomorrow does not occur you did the best that you could, hoping that it will maybe prevent the inevitable guilt you will most likely feel when eventually tomorrow does not come.  When the day comes to a close you secretly wonder if this will be your last time you will both take part in their bedtime routine.  You kiss your child goodnight and give an extra squeeze, you just never know.

I know this is lonely.  The subject remains taboo.  You fight within yourself whenever one of these negative thoughts pop into your mind.  Others will tell you to "not to think like this" and or that "it is not healthy", so you are left to wonder if you are the only one who thinks about these things.  You are afraid to talk about death and your child in the same sentence openly, not wanting to be silenced by those who might disagree with your feelings or be misunderstood by those who really have no idea.  You feel a sense of entrapment, suffocation, and uncertainty.


I know this is your life.  So, do your best to make the most of every situation.  If you have other children, then these thoughts in the back of your mind will inevitably make you a better parent.  I know you are not alone, because I am someone who gets it, I am someone who thinks these thoughts, I am someone who lives this journey along with you, and I am someone who will be here when your reality becomes real.

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Wednesday, May 30, 2018

But then...

More times than I care to recount in the past 3 years I have made a "prayer request" post for one of our CDKL5 siblings or their family as they were in the hospital, on hospice, or already passed.  The topic no one wants to openly discuss but that every parent who has a child with CDKL5 tucks into the recesses of their mind.  Maybe we can rationalize that these posts are rare.  Maybe we can pretend that because there are much older children who are diagnosed with CDKL5, this won't "happen to us".  Maybe, because this time it wasn't us, we can pray for a multitude of reasons and go back to our reality.  Maybe when we wake up the post will have been a "false alarm" and we can all breathe a sigh of relief.

While there is a numbness that begins to creep into your body after making so many of these types of posts and losing so many of our beautiful children, there are always pieces of your heart that will never be put back together.  A portion that breaks because this child has been "adopted" into your family, and you have most likely been following his or her journey and witnessed his or her struggles and accomplishments along the way.  A portion that breaks because you have most likely stood in this position before with another family and you have an idea of how this is going to unfold and you know a parent is about to part of the group that you still cannot understand even exists and never want any part of.

While your heart is broken for this family, the reality is that your heart is also broken for yourself.  You cannot possibly imagine your child's journey following in the same manner, even if you could imagine it, you do not ever want to.  You cannot fathom how this family is going to make it through this, because it is incomprehensible how you would.  Other families will tell you that you cannot dwell on it, that you cannot live life fearful of this occurring, to an extent I think that is accurate, but then the reality sets in.

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Monday, May 28, 2018

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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Tuesday, May 22, 2018

Able

Image result for quotes about it being one of those weeks

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

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

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

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

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Friday, May 18, 2018

Playing the part

I often find myself wondering why people are "chosen" to live the lives they are specifically given.  I like to equate it to casting actors in a movie.  The majority of the time I find myself saying "no one else could have done that role as perfectly, the casting director did a fantastic job".  Occasionally, there are those movies that might have been a bigger success or at least turned out a bit differently had another person been given the part.  However, there is nothing that can be done after the roles are assigned and the movie is created. In all fairness, it is difficult to see how good or bad the movie will be until it all comes together and at that point the actors did their bests, the movie is what it is, and there is no going back to the drawing board.

The thing about casting is that it is highly subjective.  For whatever reason the specific actor was picked and not everyone might agree with that choice.  I find myself wondering if the actor selected always feels that it was the best choice.  Maybe someone else urged them to try out.  Maybe they went for it on a whim.  Maybe they did not really feel they would get it.  Maybe in the end they did not actually want to be that character.  Yet here they are given a specific opportunity to represent this character.  They have to now give it their all and put their best foot forward.  They have to become one with this character as if they have always been this person.  They have to own their role.  For better or worse this is what it is.  There are no ifs, ands or buts about it. 

This week especially this has been on my mind.  I have been cast into the position I have been for literally G-d only knows why.  Despite my hefty desire to shout up at the sky and say "what are you doing?", "why is it I can handle this?", and "how is this even possible?" I am playing this part because it is mine.  I didn't realize I had been auditioning and I am sure someone else can do this entirely better.  I have no idea in what direction this movie is going, or what the end will look like.  All I know is that this was given to me for a specific reason and like I have been doing since April 2015, I will just keep having to fake it until I make it.



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Monday, May 14, 2018

Revelation



"You can't change the outcome, but you will never get the time back"-Raquel Schnitzer

There have been a lot of different things going on lately, none of which I have any control over, and  naturally that sends my brain into a tailspin.  The fear of the unknown tends to paralyze me in a way that makes me over analyze and panic about every little thing.  No matter what I do it is nearly impossible for me to stay focused in the moment and actually be present because I am dreading what might be.  I dislike the feeling immensely, but also have found it an insurmountable task to focus on anything but, until yesterday.

Yesterday was mother's day.  A day that I have been honoring for myself since 2010 when our first daughter was born.  So much has happened to make me the mom that I currently am over these past 8 years.  Yesterday standing outside a Starbucks after painting pottery Sam took this picture.

Image may contain: 6 people, including Randi Zaila, people smiling, people sitting

I studied this picture over and over, and the quote above struck me like a lightning bolt.  Whatever "big picture" outcome is going to unfold in the lives of my children or myself I will never have a say.  As hard a pill that is to swallow, I cannot do anything about it.  I can assist with the twists and turns, but if I spend all my time and energy worrying about where the roads will lead I am going to miss the entire point and joy of this life.  Eventually the answers to all the questions will be given.  They may or may not be the ones I want, but in the end, what will matter is what we all did together and the fun times we had in the process.  

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Tuesday, May 8, 2018

Handling it...

It has been a year and 3 days since this post was written.  I was around 2.5 months pregnant and too afraid to talk about it, for so many reasons.  I had lost the pregnancy before, we were debating on what, if any prenatal testing we would be doing, and I was so afraid of people who knew our situation with Sonzee judging our decision to have another child.  While the odds of having another child with CDKL5 are extremely rare, especially since neither Sam nor I have a mutated CDKL5 gene, we have 3 other children without a mutated CDKL5 gene, and because Sonzee's mutation is de novo, we were not really concerned that our next child would have the same mutation, but what about something else?  I distinctly remember carefully choosing the closing sentences of that post because I was trying to believe this to be the case.
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.
 Here I sit a year and 3 days later wondering if I am "handling it".  Part of me feels like a completely unraveled ball of yarn.  I feel the lowest in my belief of "everything being fine", in having faith that this, our life, is what "is meant to be", and that I am actually able to handle everything being thrown my way.  I do not recall a point in my life that I have been so afraid of what new piece of information I will be given.  When everything "works itself out", will it be what my both my heart and brain want and need?  I do not feel special because I was "chosen to handle" the situations I have been given.  I know it takes a much higher level of person to feel blessed and chosen to be fighting certain battles, and to be honest, I am just not there. 



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Wednesday, May 2, 2018

Weather

We woke up this morning to a gloomy sky and then some morning rain.  I love that the high today will be 74, which beats the 104 it is supposed to get to over the weekend.  Sonzee was up early this morning whimpering and uncomfortable.  She has been back at this routine for more than couple of days now. The catch 22 of her body ridding itself of Onfi is the fact that she is either more aware of her discomforts or now able to express them.  On the one hand it is so disheartening, but on the other, at least she can communicate with us.  Sadly, it does not put her in a much better position because we are still at a loss on how to help her.

It had been so long since she was in routine apparent discomfort, we were not sure why she stopped complaining, so we let it go.  We were fighting bigger battles trying to get her seizures under some sort of control, which continues to seem pointless, but it gives me something to do.  The seizures I know are an endless battle, the GI issues I feel should have some sort of resolve, yet the hamster wheel continues to spin, and we continue to get nowhere.  It is difficult to decipher if the seizures are causing the GI issues or vice versa, the two are so closely intertwined, we are playing another version of "which came first, the chicken or the egg?" and nothing we try seems to help either.


I feel like Sonzee's challenges are like the rain we had this morning, and weather in general.  They come down hard and unforgiving for a period and then they slowly get worked on, but not completely because there will be sprinkles for some time after.  Then eventually the skies will clear, and the sun will shine brightly, and we will enjoy those days for however long they last.  But the rain will become more frequent until monsoon season is in full force and we will do our best to stay dry.


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Monday, April 30, 2018

Wonder

Last night we went to a BBQ for dinner.  Our friends have so many toys and a huge backyard playground, so it was about 5 seconds after we arrived that the kids disappeared.  The weather was actually perfect for Arizona conditions, which meant we were going to eat outside.  "Perfect" still means too hot for Sonzee until the sun sets, so we parked her wheelchair in front of the screen door so she could be with us from the air conditioned house, and we sat at the table right outside.  The children were running around, her baby brother was being passed back and forth between Sam and myself, and she was happily playing with her hands in her chair.

3 years in and I am beyond the daydream of seeing Sonzee playing with her siblings by the swing set or running around.  My mind knows better than to even go into that zone, but my heart, well that does not always get the memo.  I sat at the table having a fantastic time talking, laughing, smiling, and truly enjoying myself, but part of me was with Sonzee wondering what she was thinking.  Was she really happy sitting in front of the screen? Did she want to be running around with her siblings?  Was she really content?  Does the heat really bother her?

I hate that so many times she is physically with us, but we are not completely present with her.  We are unable to cross over into her world, or be privy to any of her thoughts.  Even though we walk over to her, give her a kiss every time we walk by, and say "hey Sonzee, how's it going?", I feel like we are neglecting her.  I can't help but wonder if what we do is okay, or if she wishes it were different, that we were different with her.  As soon as the sun was out of a direct hit, Sam brought her outside and let her enjoy the breeze.  She loves sitting in the breeze, and so there she sat playing with her hands, looking as if she couldn't be happier.  Yet, I kept glancing over wondering if she could be.

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Tuesday, April 24, 2018

Inner conflict

I have been staring at an empty blog page for close to 2 hours.  I have so many things going through my mind and emotions traveling through my body.  My inner dialogue is about as organized as my diaper bag, and to lend some insight, I just took out an extra outfit for Sonzee's baby brother that was a size "Newborn"...he will be 5 months in less than a week.  For some reason, the impact of CDKL5 is all of a sudden just hitting me hard, and I cannot escape it. 

While the more rationale part of my brain tells me “You cannot live like this.”, the other parts are not strong enough to win that argument.  The trauma caused by this diagnosis has planted its roots deep into my psyche, making things feel impossible.  I try not to live in the fear of the potential of losing Sonzee on a daily basis, telling myself that “the length of life is not certain for any of my children”.  I am trying to convince myself that Sonzee’s baby brother is going to be a typically developing child, and that when my children have “minor aches and pains”, they are just minor, that they “will not be the worst case”.


I cannot decide if I am spending more of my time panicked about the potential “worst cases” or trying to thwart those thoughts?  Each day I wake up and for a split second I feel calm and at inner peace.  Then the panic fills my chest as if I just breathed it in, and then it finds a nice cozy spot inside and just sits.  I cannot breathe it out, I cannot make it go away.  Every moment from that point on is spent trying to tell myself that what I feel is not healthy and that I need to not focus on these things.  I can only try to take deep breaths, ignore the heaviness, and pray for it to go away. 

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Tuesday, April 17, 2018

Getting too comfortable

This past week I feel like I have been sucked into an uncertain realm of chaos.  The little control I thought I had over anything has vanished into thin air with such speed that I can feel its whiplash.  I have looked up at the sky about five times since last week convinced that my life is listed in the dramatic comedy section of G-d’s library.  My brain is overtired, I am physically and emotionally exhausted, fear of the unknown is debilitating, and I feel like my world is closing in on me.  Moments like these I wonder where things would be if we did not have the CDKL5 component.  How would I be different?  How would our life look? 

The way my brain functions these days I know has been significantly influenced by what I have been exposed to over the past 3 years.  I know I have reason to have the thoughts and fears I have, but that does not change the fact that I wish that were not the case.  I wonder if there was a study done on my brain in January of 2015, before the birth of Sonzee, and then now, how things might look different.  Surely the psychological effects of watching your child seize every day and face near death experiences must play a role with how your brain continues to function from that point forward. 

I know the events of last week sent me into this 100mph tailspin because they caught me completely off guard.  I bought a new hospital bag weeks ago after a parent in a local support group raved about a new backpack that comes with a charger and speakers among tons of storage pockets.  It was on sale at Walmart and I thought, “I have to have this even though we haven’t had a need for one, because the current bag I use has only two compartments”.  It came and sat in Sonzee’s room with the tags on every zipper. 

Last Monday Sonzee went to school, she had her typical day and had a seizure with her nurse.  All afternoon her nurse, Sam, and myself sat waiting in anticipation for her next seizure.  When it happened at 6:10pm, I said “oh, there we go Sonzee…we have been waiting for it”.  Never had one seizure resulted in the use of 911, or as much medication as we loaded her with, for it to stop.  We have used the same cocktail to help with a day when she has a ridiculous amount of seizures, but this was our first experience with a seizure not stopping on its own, and even after rescue meds.  I guess that is what I get for getting too comfortable.  I guess that is what I get for thinking, “why would I need to have the new bag packed?”


You would think that I would have learned in 3 years there is no such thing as “letting my guard down” or “getting comfortable”.  It is just not possible.  Things can easily change in a minute, seizures have quite a way of smacking me back into reality when I start to get content with what her "typical" is.  I now have her new hospital bag packed and ready to go in her bedroom.  I can bet the majority of the money we have that it will get used again.  It will be when I am least expecting and at the moment I have gathered enough strength to think “things are going so well, how could they possibly change?”

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Monday, April 16, 2018

Today is D Day...

April 16...we meet again.  3 years ago, today I was handed this piece of paper.  You were electronically signed 5 days ago, but I was blissfully unaware.  


Oh, how I pray that the chain of events leading up to that moment never had to happen.  I wish time could go back to the exact moment that the CDKL5 gene was forming in Sonya's body and do something differently.  If only we knew what or if there was something different that could have been done during that one split second.  I still often wonder why she was the chosen statistic and I am still unable to accept this is part of her life or our life, yet there is still nothing that we can do.


Today my heart is heavy, and it hurts.  I cannot officially say it hurts more than it did 3 years ago, but I can certainly say it is different.  3 years ago, my heart hurt because there was a reason Sonya was experiencing seizures and she never would "outgrow" them.  3 years ago, my heart hurt because we were told our 8-week-old baby girl might not develop in a typical fashion.  We were filled with fear and doubts over the trajectory she would travel.  3 years ago, my heart broke as I watched and heard Sam's break.  3 years ago, our hearts broke because we felt like we were at the bottom of the barrel.  


Today my heart hurts because 3 years have passed, and we watch our Sonzee bear seize multiple times a day.  We give her medications that help to an extent, but will never take away her pains, struggles, or seizures.  My heart hurts today because I have watched Sonzee try so hard to hold up her head, put weight on her legs, and try to sit, but her body still has its limitations.  My heart still hurts over the unknown trajectory of her path and the doubts and fears still present every day.  My heart hurts because I am more aware of what a missing CDKL5 actually means.

Over the past 3 years I have watched so many fellow CDKL5 children suffer and lose their lives and I know how real and likely this scenario is likely to become.  The past 3 years have taught me that while the selfish mom in me wants Sonzee here with me forever, the mom who has been present and watched her suffer for the past 3 years begs she won't have to continue to endure the absolutely horrific trials she has had to every moment of her life for so much longer.  

Over the past 3 years I have learned there is not much good that comes with a CDKL5 diagnosis, but good memories, great moments, and amazing friendships can still be made.  There will never be a moment that CDKL5 will ever be far from my mind.  The impact of this string of characters has been monumental.  There is so much I have learned over the past 3 years and so many changes that have been made.  While I wish with every fiber of my being the events that led up to this day 3 years ago never occurred and we were not the ones who had to learn all the intricacies of living a life with a child who is missing CDKL5 protein, that was not the case and we were...so here is to putting one foot in front of the other, waterproof mascara, a few runs to Starbucks and embracing Diagnosis Day. 


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Monday, April 9, 2018

"Hope"

There was a post over the weekend in our CDKL5 support group of a mom of a 10 month old who was recently diagnosed.  Change the date by 3 years and 7 days, and her daughter's age to 8 weeks and there we were.  She mentioned her daughter's current status, and she sounded pretty similar to Sonzee at that age.  I skimmed the replies and had zero intention of replying, after all, she was caught off guard by the diagnosis, in shock, and was looking for some hope.  I know what she is looking for, I know how she is feeling, I know what she wants to hear, and I know I am not the support she currently needs.  I am having a difficult time myself defining what hope even looks like at this point.

I remember 3 years ago it was merely a voice in the back of my mind that was saying she would not outgrow the seizures she was experiencing.  I remember 3 years ago how often Sam said exactly the opposite, he not only hoped, but really believed that when she was a little older the seizures would stop and she would be just like her siblings.  Her stint in the NICU and subsequent 8 day PCH hospitalization would become a distant nightmare and not part of a recurring adventure.  I wonder if deep down I clung to any minuscule amount of hope that I wouldn't allow myself to consider out of the devastating fear of the reality crushing me. 

It was 3 years and 6 days ago we received that phone call that redirected our focus on the path we had been journeying.  The phone call that told us we had an "answer".  I remember feeling at peace that we had an answer, eager to not want to wait the night to hear what it was, but "at least we knew what we would be dealing with".  Later on that day, Sam told me nothing we were going to be told was going to be good.  It was an odd switch of roles.  I asked him how he knew, and he told me he looked up the infant epilepsy panel and only two diagnoses were "good" and they were not what Sonya had.  I think it was one of the few times I remained more calm than him, and said, "well, we will know what it is tomorrow".

From the moment we read "CDKL5" on that genetics report, we clung to the hope that Sonya would not fall victim to all of its devastating effects.  Day after day, week after week, and year after year, I have watched her with my own eyes become its prey.  There have been some successes on this journey, and invaluable experiences, but my faith and trust in hope has been shaken to the core.  I hope she isn't suffering.  I hope that she knows she is loved.  I hope she feels we are making what we feel are the best decisions for her.  Gone are the days where I place the measurements of my hope on her accomplishment of typical milestones.  I would still love for her to sit just one time unsupported in her life, to take her first steps, to say one word, to purposefully communicate with her family, and to interact with her siblings, but if someone asked me to give them hope for their child diagnosed with CDKL5, I would say there is certainly hope, but, the reality might not follow in those footsteps.


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Thursday, April 5, 2018

Mommy-ing

Sonzee's baby brother turned 4 months old last week, and I wish I could say I am enjoying every minute of the experience, but that would not be the complete truth.  After you have a child following your child who falls under the category of "rare" it becomes challenging to accept the "typical atypical" baby behaviors for what they are, and not for what they might be.  So here I find myself sitting at my computer watching videos of my first daughter when she was 4-5 months old after spending the entire day sending videos of my son to his pediatrician, two good friends, and panicking to Sam that things are not right.  

It was on my 7th video of watching my oldest doing everything similar to her youngest brother, yet vocalizing significantly less, that I wanted to cry.  I sent two different but similar texts, one said "I want to go back to being that mom", the other continued to say "...the mom you sadly never got to be and the one I miss being.  The one where her baby does everything [Sonzee's brother] does and even more questionable movements but the mom who had zero [expletive] clue about rare".  Then the tears could not help themselves, because this is just too much to keep inside.  This is not how it should be.  

No one should know raising a child with CDKL5.  I have always been grateful Sonzee was baby #4, I got to experience my naive mommy-ing moments.  The negative is that I am aware of how my mommy-ing was different, I know the type of mommy-ing I am missing.  Despite my son's congenital heart defect, there was nothing that prepared me for the situations CDKL5 has brought to the table.  I wish I could go back to being the type of neurotic mom I was with my first, because CDKL5 has brought me to an entirely different level.  


Every day I wake up and tell myself that my son "is not seizing", "he makes eye contact", "he has an adorable laugh", "he smiles at everyone and everything", and "he is fine".  But then there is a picture posted to Facebook of another child his age doing something he is not that I did not even consider he should be, or there is a momentary flashback of Sonzee at his age doing the same "weird" movement, and the panic washes over me in an unstoppable manner.  There is no rationalizing with me, or convincing me otherwise, because I am sitting here waiting for the shoe to drop.  I am so confused between my actual gut feeling, nerves, and the potential to journey down a similar path of Sonzee's with another child that it makes me nauseous.  There is something to be said about the carefree first-time mom of a typical child, the one I will not ever be again, and sadly, the one I never realized until now, I once was.

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