2 boys and 2 girls

We never learned the gender for our children prior to their birth. With Sonzee being the 4th Sam had actually wanted to know, but because for the previous 3 he didn't want us to find out, I decided we should stick with our pattern. We already had a girl, then a boy, and then a girl, in my mind of course baby #4 would be a boy. How could it not be? Me an (at the time) very much type A person, there would be no doubt, no question, we would have 2 boys and 2 girls. The perfect family. Afterall, we were evening out the odd number of children, so there wasn't a way we could have an odd number of girls to an odd number of a boy. 3 weeks prior to baby #4's arrival I had a panic attack. We have a boy's room and a girl's room, BUT, what. if. baby. #4. is. a. girl? How would that work? You can't have 3 girls in one room. It didn't make sense. And then....Sonzee was born. A "healthy baby girl" as Sam would write on our social media announcement. I cringed. I asked him why on earth he'd write that. Was he challenging Hashem?? 4 (very long) weeks later, we would learn she had epilepsy, so I guess he was. Within 2 months my perfect image of what our perfect family was going to be, was no longer (but hey, she did have blue eyes so there was always that). 

This year for Passover we traveled to Florida. We took a day trip to Key Largo today to go on Jet skis. Our initial plan was 3 jetskis, Sam with our oldest boy, the 2 girls together, and me with our youngest. Then (as most of my planning goes these day) Hashem said, nah, let's do 2 jetskis, all 6 people can fit on 3, so we will do one for the boys and one for the girls. And so we did. Almost 2 hours into our ride and on the return after so much laughter, speed, and smiles we were idling under a bridge and a nearby boat (aptly named: "This is the Way") and a person on the boat waved to me and as I waved back my inner dialogue took over. 

"Oh wow, 2 jetskis, one that has the boys with the father and one with the girls with the mother, that's even, that's perfect, what a perfect family, 2 and 2"

"But no, there is another, she just isn't on the jetski's, because she is dead, and even if she were alive, she wouldn't be on the jetskis, in fact, would we even be on this trip? What would we have done? What would we have done for the last 5 years? Not all of these #lifeexperiences" 

The heavy hit of grief smacking me in the face, almost cringeworthy to say it was similar to the wind and saltwater doing that simultaneously. Ironic I was on a jetski in an ocean with waves when the grief hit. Another memory a video about grief related to waves. Eventually the grief settles, similar to the waves, but you really don't know when, or how high the waves will be. You know after 5+ years there will be more waves, but you also know they aren't as insurmountable as they once felt, there is a break between them where you can actually breathe, and you can actually see the beauty that is all around you. You know, or rather I'd say you can acknowledge that even though you are no longer whole, you are no longer that unit of perfection that wasn't but was, you still have the perfect family; 2 living boys and 2 living girls, and from the view of others, and in reality, it is actually perfect, but it's always going to be missing the 3rd jetski. 

June 1 1:52am (173 weeks and 2.5 days 44 min)

Dear Sonzee, 

I haven't written you a weekly letter for the last 3 weeks. The intention was initially there, and then after Shaina died everything went out the window. It's been a while since I have gone back to this place. The dark whirlwind of grief hole. The one that makes it impossible for me to fall asleep at night. The one that keeps the tears only a blink away. The one where it feels like I left something behind, and that leaves an enormous weight on my chest. It is the place where I want to be a hermit and not be around many people and keep to myself. It makes me exhausted in the way of not wanting to do anything more than the basics of life. I have worked so hard to get passed this place and to where I was 3 weeks ago...but it took less than a second (literally) to erase it all. 

Work finished up for me last week right before Shavuot. It was a nice holiday, I went and said Yizkor for you. On the first day, there was some drama at the shul because of a suspicious box. It ended after the bomb squad had to give the green light for things to continue. We had a mini block party at the house. I was thankful I had made 4 pitchers of cold brew prior to the start of the holiday!

We celebrated Meena's birthday during the last 3 weeks as you know, she turned 10, 2 times an age you never got to be. Tzvi had hockey tryouts and made peewee silver with most of his friends from last season. It is sad one of Tzvi's friends is no longer on the team, I am upset that his mom won't be on the bleachers with me.  I know I will see her around, but it isn't the same.  

We did an impromptu street cleanup Monday. We had to get our 2nd one in asap since we were due already. I asked Aba Sunday if we should go (it was 7am), and he said he wanted to wait until Monday because he wasn't in the right mindset because it was hot because we would go earlier Monday. The only thing accomplished was the mindset because we went at 9am and it was hot. Ms. Tara came with us and was a great help. Ms. Tara, Noam, Meena, and I finished from 7th-16th street in an hour and 20 minutes, and Aba, Tzvi, and Laeya did 16th-7th in the same time. It worked out nicely, and we got a lot of garbage. I do not understand why it is so hard to throw away cigarettes, but then I guess we wouldn't have any garbage to pick up. 

On Tuesday I flew to New Jersey. I have gotten to hang out with Uncle, Hay-Hay, and baby Isla (who as of this moment is officially a one-year-old). She never got to meet you and it still breaks my heart. I went to Meena's friend Sophia's brother's wedding tonight in New York. It was a beautiful affair, and I loved spending time with some of my VV friends. There was a girl in a wheelchair there and I wonder what her diagnosis is. I couldn't stop smiling watching her be pushed around in her wheelchair and dance with everyone. My heart broke when I saw her dancing with Sophia's brother, and while she isn't his sibling, it dawned on me that you won't be at any of your siblings' weddings. Aba said that you would be there in spirit dancing more freely than you could have ever been. It was an attempt to be positive about the reality. I kept in tears, but they were filling up my eyes, and they are coming out now. You missed Laeya's bat mitzvah, and you will miss the others, but I had not even considered weddings yet, and watching this girl dance with everyone pierced my soul. I hate when things like this sneak up on me. 

I hate that I have worked so hard to be where I was and it now seems like I have to start back over again. Why is grief so stinking hard?!  Why is it 1027392 tiny Sonzee-steps forward but an immediate catapult back? Maybe it is better that it all happens at once so when I eventually crawl back out of this Alice in Wonderland hole I won't (hopefully) fall right back down again. Maybe we can get a lot of the hard stuff out of the way now so I can have another 3+ years to build back up to before I fall back down? 

Sometimes your death mirrors your life spectacularly. I remember during your life someone once asked me why I was afraid to have hope or think positively about your future...and I remember the answer being because I was hoping it would make the fall less intense/less harsh/less far. In hindsight, I am unsure if it made anything any easier to cope with, but I won't know because I never had fictional dreams of a life I knew in my soul you wouldn't ever live. Sometimes I feel like it is the same with your death. Except I have allowed myself to get hopeful and to get comfortable in where I am at, so the fall down is extremely harsh. It feels like I am right back at the beginning and it sucks! 

Anyway baby girl. I am going to go attempt to get some sleep. I miss you lots! 

Until next time. 

Love always. 

Ema

4 years 11 months and 23 days

Dear Sonzee, 

Today is the day...just one of the days I have dreaded since the day you died 2 years 9 months and 17 days ago. Tomorrow is another day I will dread and next Monday is one that I just cannot even begin to truly process. Today, your baby brother turns the age you were on the day you died. He called you "Dondee" because he couldn't even say his "s" when you were alive.  It took him the last 2 years to start to understand that death meant you wouldn't be coming home, but he still doesn't really grasp where exactly you are. (I don't think any of us really do to be honest-the concept is just too abstract).

I spent so many days crying in anticipation of today and the week to come that today, despite my heart beating a little faster, and feeling that extra drag in my step, there are no tears...yet. Maybe it is because I am pretty preoccupied in NY with your baby cousin Isla. In a few hours we fly back to Phoenix. 

Today, as Noam turns your same age, he will be starting his debut hockey career. You were in the middle of life and death during the same age equivalent time. It is a celebration of sorts that he is reaching today, as is every day we all continue to live and breathe, but birthday and age celebrations aren't what they once were to me.  There is a shadow that is always cast. There is a piece of my heart that can't join in with the rest.  Most people cannot understand.  Most people focus on how I am supposed to be dealing with it because it wouldn't be fair to Noam if I didn't. People don't understand the challenge of celebrating a younger child out aging their older one, and lucky for them they don't have to, so it is easy for them to say what I should be able to do. 

After today he isn't technically younger than you. He will (thankfully, and I hope) have age experiences you weren't afforded. I am grateful for that. I know what it is like to be stuck in the alternate universe of not aging, so I will celebrate the essential victory of what is tomorrow, but it doesn't come without the knowledge of you now becoming our youngest. Forever our 4th child who will become younger than our 5th. Forever 4. Forever 4 years 11 months and 23 days. Forever and never to be the big sister you should have been. While I won't let that take away from Noam's ability to continue (and I pray he does) to outage you every day for the rest of his life, I will also not ever forget that that fact is one and the same, and neither should others. 

Until next time baby girl! I love and miss you!! Hope to see you in the sky!

Love always, 

Ema

54 weeks

Dear Sonzee, 

The weeks are flying by in a manner that feels quicker than record time, I feel like there are just seconds now between my letters to you.  This week we remembered your birthday. I am still at a loss for the best word to describe what February 11 has now become.  We didn't celebrate it, we didn't honor it, we just thought about you and what the day once was, so remembered seems to be the most fitting word.  

Meena went away for her birthday weekend with bubbie and poppop finally.  They went to Great Wolf Lodge and had a great time.  I am glad she wasn't phased that the last time we all were there, so were you.  I wonder if she really even thought about that.  I am torn on if that hurts me or not.  On the one hand, I am so thankful your siblings can move forward, on the other, I hate that they are.  I know to suggest they are isn't exactly the fairest statement to make, because I know you are always with them, but still, it seems so much easier for them.  (As it really should be, but yet it sucks).

Aba has given me the freedom to reorganize the kitchen, so it took me until today to realize the labels on the bottom right shelf of the fridge both still say "Sonzee TPN/Lipids" and "Sonzee Medications/Nurse Paige".  My heart hurt when I read the words and realized why nothing has found its permanent home on that shelf in over a year.  I am fairly certain, like all of your containers being used in Bear Pines, the wording won't ever be erased. (I chuckle when I think what someone will say when/if they flip the instant coffee holder around to see it say "alcohol wipes", or when they read the container drawers that have your TPN storage information written on the front but not the actual contents of what is now being held.) Grief is just weird like that.  I think I would cry for hours if the labels were ever removed, it's bad enough you are already gone.

On that note, I feel like I am starting to truly understand the feelings those in the grief group stated a year ago about feeling like their child would be forgotten.  I didn't understand what they meant.  I remember during one of the meetings I said I didn't have a fear of that happening, but it's funny how 54 weeks can grant you a different perspective.  You won't ever be forgotten, that is impossible, but the brain sometimes works in quirky ways, as does the world.  Your physical presence is gone, so much of you has left our house, it is us who keeps your essence here, but we go out as a family of 6, and you aren't there.  Your seat is absent from the car.  All these physical reminders, gone, and so sometimes I want to wear a shirt that says "There should be another", "Family of 7", "Mom of 3 girls and 2 boys".  I want to make an announcement that you were here so everyone who doesn't know will know, and so I don't have those moments where I get smacked in the face regarding your absence.  

Tzvi had a hockey tournament this weekend. PS: Thanks for helping him score that goal! I know it was you, and I am sure if anyone realized I was crying in a hockey rink over my kid scoring a goal they would have said "umm, alrighty then".  It's in those moments specifically I want everyone to know that I am an emotional mess because I buried you.  Similar to the moment some little (I will leave out the adjective I want to use) kid slammed his body into your brother and sent him flying into the boards and I jumped up and screamed HEY so loudly every single person in the rink looked at me.  It's as if I wait for these games to let bereaved momma bear out...I am torn on whether it's a continued blessing or a failed mission I haven't been thrown out yet by the refs. I behaved, I waited until the other team's parents walked out of the rink to give me time to calm myself because I was legitimately about to go off on them.  I guess year two is starting out with that whole anger stage of grief.

Anyway, my love, it is getting close to midnight.  I miss you so incredibly much it sucks! I hope you are having a great time wherever you are.  We all miss and love you!

Until next week.

Love always, 

Ema

The Same

We are a month and 5 days away from Sonzee turning 5.  I really am trying my best to focus on the sheer fact that she will be turning five, that she is here to celebrate such a milestone; but the human side of me says that still is not enough.  It is honestly just not enough to be celebrating a milestone that I am not even sure she realizes is occurring.  The doubt in that fact alone is enough to bring tears into my eyes.  Watching her seize and sleep her days away otherwise is enough to release the tears straight down my face.  It just isn't fair.

We are a month and 5 days away from our youngest being officially more than 2.5 years younger chronologically from Sonzee, but developmentally 2 years more advanced than she will ever be, with an ever-growing gap as each day passes.  It hurts. It hurts in such an incredibly unexpected way.  Watching him as he gains every little skill.  As he speaks more words each day.   With each and every smile he flashes my way.  With every gentle pat and snuggle he gives her and concern he extends toward his bigger sister.  It just isn't how the roles are supposed to be.

I sometimes wonder if I will ever really wrap my head around the fact that this is the life she is destined to live.  I wonder if I will ever truly be able to accept that this is how it is supposed to be.  I wonder if I will one day truly believe she really is who she is and it was a purposeful genetic mistake, or rather not even really a mistake.  I wonder if I will ever be able to give up on what I still honestly secretly wish she could achieve, and the dreams of normalcy I wish her to have.  I wonder if there is ever going to be a way that I can look at her siblings and not have a cloud dampen it because Sonzee isn't or won't be able to do xyz.  The minutes and hours are ticking by.  The days are going by faster than I can keep up.  The years are speeding by at a rate I feel I am not even able to process, but Sonzee, she always stays the same. 

If only

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

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

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

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But I wish...

I was scrolling through my Facebook this week and there was a little girl who is similar in her presentation of CDKL5 as Sonzee, and she is now sitting unassisted.  I was honestly so excited for her and even more so her family.  She has no idea how much that little milestone will mean to them.  It is one of those milestones I have shelved for Sonzee; it is just easier that way.  After I scrolled past I did not keep thinking about her sitting, but then another image of her sitting appeared, and it bothered me that Sonzee never has gotten to experience that sort of independence. 

I really do not know how or even if her life would be drastically different if she was able to sit unassisted.  Would she even like it?  It is not as if she would be able to crawl out of sitting, or interact with any toys, so maybe her being unable to sit is saving her from the frustration of being left in the middle of the room to essentially do nothing.  I wonder why I cannot truly accept these limitations her body has on her.  I wonder if it is just because there is an inescapable guilt that comes from not being able to help her achieve these developmental milestones.

I do understand there is not anything I can do more of to help her, it is either something her body is able to do or something it is not.  It has little to do with any choices Sam and I have ever made regarding her medications.  It is not because we do not have her enrolled in 12 hour daily physical therapy sessions.  There was not something we did or did not do to cause her to be unable to sit.  It just simply is not in her DNA.

But oh, how I wish it were.

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weight

It is midnight.

My eyelids are beyond heavy and my eyes are blurry and dry, but as usual I am awake to welcome in the new day as the date changes on my watch.  My stomach feels a bit off and it is not any sort of stomach bug or illness.  My mind is a thought away from sending my eyes a memo that a flood is incoming and my chest a second away from skipping a beat.  I have been hitting refresh on one of Sonzee's CDKL5 sister's mom's Facebook page.  I hate this game.

Waiting is the worst part.  I try to tell myself no news is good news, it is the truth, right?  After all, it has been 10 hours since she last posted, and every other tag of her name on her profile page is her original post tagged, so I am sticking with my original thought.  The alternative is just too much.  I have lost count of how many of our CDKL5 siblings have been lost this year and it makes my heart feel excruciatingly heavy.

Today is one of those days that makes CDKL5 feel suffocating and inescapable.  I replay in my mind and on my camera images of Sonzee smiling in her spa during her first swim.  While the images bring me immense joy, the reality behind why there is an aquatic training vessel in my backyard and the organization that gifted it to us, paired with her CDKL5 sister in the ICU makes me want to run towards the trash can and then afterward partake in some ugly crying.  There are certainly times that the weight of this life is just beyond any earthly comprehension and I can tell you 12:40am is one of those times...

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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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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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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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The other side

I cannot remember exactly where my mindset was in October of 2015 but being a rookie on this journey I can guess I was in a more optimistic position.  I had witnessed fewer seizures, experienced fewer moments of overall defeat for Sonzee, not fully addressed her diagnosis of her being Failure to Thrive and had not done her first medication wean.  I had thoughts about wishing things would be better for Sonya, whatever that meant in my mind at the time, but then wrote a post about being content with where things were personally, because you just never know what the alternatives really are, even when from the outside others situations appear more ideal.  

There is honestly NO ideal way to have a CDKL5 mutation.  No mutation is "better" than another, they are all essentially awful and unwanted, and each child presents with unique strengths and challenges.  There is not one parent of a child diagnosed with CDKL5 (that I know of), who prayed for their child to have a mutation in their CDKL5 gene and present with whatever skill sets and or medical complexities they do because of that mutation.  Some children with CDKL5 do walk, some do crawl, some can sit, some have a limited vocabulary but are able to communicate verbally, some have behavioral difficulties, some have respiratory issues, obviously the majority if not all, have the seizure component, but there are no two kiddos who are exactly alike.  Every child who has a CDKL5 diagnosis and their family experience heart aching, gut wrenching struggles, yet I am sitting here wishing Sonzee did not have the specific challenges she has.

Why do her struggles have to be what they are?  Why couldn't she be one of the more mobile children with fewer GI and motility issues?  Why couldn't she be one of the miracle stories where CBD worked?  Why couldn't she be one of those kiddos that thrived when her seizures have been momentarily controlled?  What would it be like in our house if she showed negative behaviors such as wreaking havoc on the playroom and eating non-food items?  Why can't she tolerate the amount of food she NEEDS to survive?  I know handpicking the way CDKL5 could affect her would not be a better idea, and knowing my luck, I would probably not do her any better justice, but I wish I could have an alternative version of her story playing out next to me for me to see what it would be like if she did not have the specific set of challenges she was given.  Yet 2 years and 5 months after my optimistic approach at turning lemons into lemonade, knowing that "the grass is always greener on the other side" is not always the case, I can't help but wish so deeply that she had "the other side".   

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It's not fair

On Sunday morning I placed Sonzee's little brother on his tummy for a little workout.  Full disclosure, I don't do it as much as I did for his older siblings, but honestly with (what we perceive as) a fully intact set of genetics, I am not overly worried about his neck muscles or a flat head.  I videoed close to a minute of him holding his head up while Sonzee was nearby rolling from side to side.  I was so excited he held it for so long and then equally as excited that I didn't cry because my almost 3-year-old has never been able to hold her head while on her tummy for more than 10-15 seconds, and those 10-15 seconds require an immense amount of effort.  

I (stupidly) decided to watch videos of Sonzee when she was around the same age as her brother.  I know how much she works to attempt basic skills, but it literally broke my heart in half to see her struggle video after video to even try and lift her head for a second to turn it.  As I watched a couple of videos I was immediately transported back to the exact day they were taped, mixed with emotions of relief we had a diagnosis of epilepsy and fear of the unknown.  It must be some kind of protective mechanism of my brain, but I honestly forgot about these videos, and I swear in my mind she could at some point hold her head up and that she lost that skill.  I liked my reality better.  

It makes me so angry that everything is an uphill battle for her.  It makes me angry her life will not ever get easier.  The basic skill of holding up her head, which just happens as part of typical development within weeks of being born without any effort for a typical child, my almost 3-year-old cannot do, and it is not due to lack of trying.  In fact, those videos were worse to re-watch now knowing her diagnosis was more than epilepsy.  The days they were created it was impossible for me to know just how hard her struggles would become.  I feel like I did such a disservice to her making her work so hard and inevitably it not being enough.  A repetitive theme woven throughout every aspect of her life.

My heart is so full and simultaneously heavy these days.  There is so much joy with Sonzee's baby brother, yet so much aching from the cards she was handed.  We spend our time focusing on the positives and pushing out the negatives of life with CDKL5, but honestly, a life with CDKL5 is just not fair.

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Do not want...

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

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

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

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When history repeats

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

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

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



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I Did not know...

I had a lot of assumptions of how things would be with a new baby after having a child born with a rare and complex genetic disorder resulting in intractable epilepsy.  I imagined the Moro reflex would make me question infantile spasms and that any type of twitch, jerk, or shake would cause my heart to skip a beat.  I assumed that leaving the hospital without a NICU stay would be emotional, and that the fact my kids were able to wear their "big/little" sibling shirts would cause me some tears because we never got around to doing that when we had Sonzee.  I figured that at some point it would be bitter sweet as I watched Sonzee remain frozen in time and our new baby advance and meet milestones.  What I did not anticipate or did not know (how) to prepare myself for was the constant flashbacks and memory reels playing in my mind of Sonzee as our new baby does something similar to a seizure, but is just being a "typical baby". 

I can vividly see every seizure she had while in the NICU that had me on edge, but that happened too quickly for any medical professional to share in my concern.  I can clearly remember saying to my mom during that first week in the NICU that my fear was Sonzee was constantly seizing because of her wonky eye movements.  I remember when my dad told me "the thing about seizures is that you just have to wait and see".  I don't even have to close my eyes to see the video of Sonzee's seizure that won us her ticket to the PEMU at PCH at just 4 weeks old.  I can "play it back" in my mind on repeat and tell you every detail.  I know it is completely acceptable that I am on "red alert" with Sonzee's baby brother, but I didn't expect for every little similar movement to bring back the live playback of Sonzee front and center. 

Despite relying on the statistics that "it would be extremely rare" for another child of ours to have CDKL5 or even another de novo mutation, there was and is a constant fear lurking in the back of my mind about "what if"; after all, Sonzee is an extremely rare statistic.  There is nothing anyone can say that will calm the fears of the potential of rare occurring in any facet within our family.  Despite a friend of mine who has a 2 year old daughter with CDKL5 and an infant son warning me that things would be different this time, I shrugged the warnings off, because I am a seasoned neurotic mother and all but one (now two) of my children have been to a neurologist at some point in their lives for various reasons. 

I did not know that a simple sound, eye flutter, or body movement would cause my body to freeze and bring on a complete panic attack.  I did not know there were so many "weird" things that newborn babies can do, and I have no idea how I did not notice these with my first three, or did I?  I did not know there were so many ways to analyze "typical baby behaviors".  I did not know how scarred I am or how tainted my views have become due to life with rare and specifically CDKL5.  I didn't know so much fear circulates within my body that I bury on a daily basis.  What I did not assume or know was just how mentally challenging a baby after Sonzee was going to be.

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Clarity

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

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

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

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

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

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

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

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Spectrum

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

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

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

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

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Keeping the faith....

Lately I have been really struggling with the whole concept of having faith.  It is hard for me to keep hope and be optimistic when I feel surrounded by not only Sonzee, but other little children trying to battle incurable disorders and diseases.  I realize it is during these types of times that I should feel the magnetic pull to G-d to place my fears, frustrations, and questions on him...but for some reason, I just cannot.  I am unsure if it is because I secretly believe I have some sort of control of how anything in my life is supposed to go and "having faith" admits that I am relying on something other than myself, or am I afraid that having faith puts me in a vulnerable position to be extremely disappointed with the outcome?  

The biggest challenge with my ability to keep faith is that I feel like for the past two years I have been relying on my faith to get me through and I continuously feel "let down".  Maybe that is not necessarily fair considering how many times in the past two years Sonzee has scarcely made it out of various situations; but truthfully, it just feels like it prolongs the war and has not really gotten us completely out of the trenches.  I do not even believe being told we are "in the all clear" is at all possible with a diagnosis like CDKL5, but it just continuously feels like we are being lifted up to crash back down.  Am I feeling this solely because my faith is wavering?  

When we have been faced with situations I try to look, focus, and believe in what the best-case scenario might turn out to be...and the majority (if not every time) that is never how our reality turns out.  It becomes an arduous task to continuously set myself up for the potential disappointment, which to be honest in our case is typically not potential but actually, more likely.  If there is a "rare" complication/side effect, you can bet money that it has Sonzee's name on it; complications that are even rare to other children who have CDKL5 mutations.  27 months of watching my baby girl suffer has drained a lot of my faith and I am desperately trying to not lose it all, but every day it is becoming increasingly difficult. 

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10 days

Today marks 10 days until the 2 year anniversary of CDKL5 Diagnosis Day.  I am blown away at the mere fact that it has been TWO entire years since we first learned about CDKL5.  I do not know if it is more surprising to myself that we will have survived two full years of this unexpected journey or that it is still just as hard to make it through each day.  If I had been asked on that day where I would see myself or Sonzee at this point, I know I would not have been correct with my reply.  While I was filled with fears of the future, I could not have fathomed any of the experiences we have endured over the past two years.  It is practically impossible to even guess how this journey will play out unless you are actually living it.

Two years.  Approximately 730 days since I sat in a small office at the PCH Northwest valley specialty and outpatient center, and was handed a piece of paper that "explained" why Sonzee was having seizures, but not telling us how to stop them.  We were given a reason for her (soon to be) delays, her cortical vision impairment, her (soon to be) gastrointestinal issues, but again no way to prevent them, stop them, or help them from occurring.  We were given a string of characters that essentially sums up the cause of her challenges, but does nothing else to help us help her.  In 10 days, it will be two years, and we are no better off than we were on the day before we were told her results were in.  Yet here we are "celebrating" two years since her "diagnosis day".

I have always felt relieved that there was never someone or something to hold responsible for Sonzee's CDKL5 mutation, it helps to remove a lot of the anger.  However, I think one of the best things that come from this anniversary is that I can spend the days leading up to it, and the day of, releasing what bits of anger, hatred, and utter dismay for CDKL5 I have, so I can move on and then go back to dealing with this life.  I remember in the 24 hours from the time we knew results came back positive for a cause to Sonzee's seizures I felt it did not matter what we were told because "at least we would know", "at least we would have an answer".  Now as I sit here looking back over the last two years and to the future that lies ahead, I must ask myself, were we/are we really any better off having an answer?

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