I knew

I knew the day would come.  I thought about it numerous times during her first year of life.  I wondered when exactly the moment would happen, how it would occur, the situation I would find myself in.  I never had a clear image of what exactly would transpire, but I knew after so many encounters that one-day things would be vastly different. I knew there would come a day when the small talk surrounding a run in encounter with a "baby" in a stroller would yield a different response than "how cute", "oh, is she 1?", "what's her name?", "she is so pretty", "what pretty eyes", and/or some other similar but positive and smile exchanging encounter.  I wondered at what point it would occur, always fearful of the day it would happen, but then of course forgetting about the potential on the day that it did.

After all the years of hesitant exchanges standing next to her stroller, eager to just smile along and chuckle at whatever praising remark was made, the one time that I forgot it could occur, is of course when it did.  I knew she wouldn't be a baby forever, I knew she wouldn't be tiny forever, G-d knows she has enough tubes and medical interventions erasing the Failure to Thrive diagnosis as we speak.  I was never naive enough to think that she would always get positive head turns, but in the end, maybe I was.  I knew once she was bigger she would get noticed for her hand stereotypies and her abnormal flexibility.  I knew people would start to realize she wasn't a baby, but in the majority of ways, she really still is, and ironically the phrase "look at the pretty baby" that used to make me grit my teeth because she wasn't a baby, I wish would return.

I knew her growing up would eventually happen, but I didn't expect for the day to occur while walking down 68th Street in New York City.  I knew one day someone would act in a way that hurt me to my core, but I didn't expect it to be a man walking a cute Yorkie named PJ, who (I can only assume) had zero intention to break a mother's heart while he was out walking his friendly dog.  I knew one day it would be completely obvious that the little girl in the stroller with splatter colored framed glasses and a customized pacifier clip was not actually a baby, but I didn't expect the silence after responding to the question about her age to be so deafening and feel like an eternity was passing by.  I knew one day there would be no words to fill the awkwardness that filled the air.  Yet the thing about preparing for the future with a diagnosis like CDKL5 is that there really is no way you can, because no matter how many dress rehearsals you have; when the curtains lift and you find yourself center stage, it is never exactly how you anticipated it to occur.

Are there...

"Are there ever even split seconds where you forget you have a child with CDKL5?" read a text across my screen a week ago.  I replied with, "I haven't had that I don't think".  My friend explained what had occurred that prompted the text and I replied with a sigh emoji.  The conversation ended.  A little over a week has gone by and I honestly had forgotten about the text, until yesterday morning.

Sam left on his drive to NY with a trailer full of all our things and I am still in Phoenix with all of the kids.  The older kids and baby brother were running around the house, some in their pajamas, some actually dressed.  None of the girls with their hair brushed, and it is debatable if any really had brushed their teeth when I asked.  I was going between the kitchen and Sonzee's room getting her refrigerated meds and making her batch of food, sorting it into containers, and then bringing in what she needed to begin the day.  I changed her diaper, picked out her outfit for the day, started her feed, and then began giving her meds.  Part way through her TPN/Lipids finished and I got out my supplies to heparin lock her central line.  After I was finished I hooked her feeding bag on her Rifton chair, scooped her up, and simultaneously words flashed across my mind as if I was replying to a freshly asked question.

"How can there ever be a split second where I forget I have a child with CDKL5?"  Whether she is awake or asleep there are always tubes coming out of her body.  When I watch her sleep she is always hooked up to a machine.  The only way for her to get in and out of a chair or car is with full assistance.  She cannot get from point A to point B without someone else being involved.  My dreams are beyond having substantial hope for her to have a functioning CDKL5, and my nightmares consist of what is going to happen because of her CDKL5 deficiency.  There are no split seconds of forgetting she is not typical; thank g-d for that too, because coming back to reality a split second later would most likely cause me to fall to my knees and suffer another form of diagnosis day, and I am over that repetition, it happens enough as it is.

As I brushed her hair and picked out her hair tie, I was still thinking about all of my split-second thoughts over the past 4+ years.  How does she have CDKL5?  Why does she have CDKL5? What if she never had CDKL5? What if she were typical?  How would our lives be different?  How would our family look?  What would it be like to have 5 typical kids?  Would we even have 5 kids?  What is a typical life?  Why can't I remember what life was like before CDKL5?  What kind of parent was I before CDKL5? The list continues, there are so many split seconds in a day, but none of them are ever filled with that minuscule bliss of forgetting she has CDKL5, but maybe like everything else, it is for the best.

When?

I feel like this April, in general, hit me like a ton of bricks.  Deep down I know the reason is that we have been on this journey for 4 long years and even though each minute brings on something slightly different, the meat and potatoes are always the same.  It is the same race for a cure, the same challenge to find seizure control, and the same tight rope walking of managing a nonverbal 4-year-olds quality of life. The years seem to go by, the medicines and equipment change here and there, but the routine of it all stays the same.

Honestly, it is quite daunting.

It seems we are always trying to find the perfectly shaped bandaid to cover whatever difficulty Sonzee is facing, yet each time I feel like we are living out a real life version of one of those arcade games where you have to hit the chipmunk as it pops out of the hole with the rubber mallet.  Each time we manage to get one chipmunk back down underground, sure enough, the next one is popping up.  Sometimes I am quick enough to smack the chipmunk head on, a good portion of the time I maybe nick the side, but the majority of the time I am completely off the mark as I hover wondering which of the holes the chipmunk will emerge from.

Last night while dinner was warming in the oven, I was finishing up with TPN preparation, my sister and her family were hanging out waiting for the rest of my family to come over for dinner, and Sonzee was in her ppod, when she started having a 19 min and 50-second seizure.  That was not her first seizure of the day either, however, it was her longest by 5 minutes.  I stood next to her videotaping for the 10 minutes the seizure tracker app allows me to record, sent an email asking them to consider expanding the length of videos that can be saved on the server, and waited next to her until the entire 19 minutes and 50 seconds had passed.  Then, as if this is normal, because it is our normal life continued with getting her washed down and dressed for her TPN connection, yet as usual, I was left wondering what kind of life is this for a child, why does she have to endure this, and when is enough, enough?

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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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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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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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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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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How? Why? When?

Seizures have been consistently horrific since their debut (again) after the brief VNS miracle wore off back in July, however, this month it appears Sonzee is about to break her personal monthly record.  With three days of January still remaining, as of Sunday she was tied for October and December with a minimum of 415 minutes spent actively seizing each of those months...that is at least 6.917 hours.  Those numbers do not represent any questionable activity or brief spasms (even in clusters).  She has required at least one rescue medication a week since October, and we are extremely conservative with giving her those.  I am at a loss for words, I really do not understand, how does this happen? when is this horror going to stop? what is left for us to do?

I know this is what life is when CDKL5 is the diagnosis, but I am having such a difficult time accepting this for Sonzee.  She hardly complains except when the seizures are so horrible for her that they cause her to whimper afterward.  She puts up with every episode like a champ, sometimes even continuing on with whatever activity she was previously doing rather than falling asleep.  Regardless of how she handles each one, none of them are okay, none of them should be happening.  Why won't they just stop?  Why won't these medications we throw at them actually work?  Why is there absolutely nothing we can do for her?

I have become so used to seizures being part of our daily routine, their shock value has become nonexistent to me despite how dangerous they are and can potentially be.  I vividly remember the days when I wondered who would let their child seize 30 seconds much less 2 minutes before administering a rescue medication like the directions stated.  Now I wonder how I could possibly give her a rescue med at only 2 minutes when she will typically stop on her own around 5-6 minutes.  I have found myself saying, "what's 10 minutes?"  Are the addictive properties better or worse than the potential brain damage she could be experiencing?  Her brain activity isn't typical regardless, so I would prefer she not be exposed to more medications and so the clock can tick on. 

I wish someone could tell me how any part of this should be considered normal?, or why she continuously has to suffer? or when it will stop.  If I could have one wish granted it would be for her to wake up and have a functional CDKL5 gene, but until then I will continue to wonder how? why? and when?


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Toughing it out

This past summer our oldest son celebrated his 6th birthday, sadly (and I suppose only fitting for a middle child) life got in the way and we never celebrated his big day with a party.  Fast forward to biggest sisters 8th birthday that just occurred, and I couldn't in good conscious (or without never hearing the end of it) throw her a birthday party without having had one for him.  So yesterday we took the morning to celebrate our daughter and the afternoon to celebrate our son.  Two parties, two different locations, two different parts of Phoenix, two different groups of children, but one fun filled (exhausting) day.

With the day scheduled to focus on our older two children it made perfect sense that Sonzee would decide to have one of her atrocious seizure nights the night before.  Really it included the day before as well, so let's just say the 24 hours preceding the parties (as well as the parties themselves).  I already have so much guilt as it is with my four other children, I was not adding "missing 2 birthday parties" to the list, so Sam and I watched her closely and explained to her that today was not her day.  One thing about Sonzee is how determined she is when she wants to be, so despite the fact that she surely would have preferred to spend the day in bed she managed to do what she does best (second to seizing) and tough it out. 

Her day did finish with a warm bath and some rescue meds but she managed to experience some incredible experiences with her siblings, complete with her big sister pushing her around the ice rink, and having cupcake frosting twice in one day.  I really cannot stand how much the effects of CDKL5 attempt to throw wrenches in everything we do.  I know Sonzee would have been so disappointed to not share in the festivities of her siblings today so I am glad Sam and I were able to remain calm and trust our seizure management enough to not have to split parenting duty between parties and the ER and that she was able to stick it out. 

CDKL5....you are going to have to try harder because Sonzee is quite a resilient little bear.

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Looks can be deceiving

I have been keeping Sonzee's baby brother out of the public as much as possible since he was born because once you have a had a newborn baby hospitalized, regardless of the reasoning, you don't want to relive any part of that hellish event what-so-ever.  So with it being a particularly bad flu and RSV season, limited exposure to others has been our way of life.  With him being a little over a month, I decided to take him with me this morning to pick up curbside groceries and then to the post office to run in quickly to buy some stamps and send out 4 larger brown envelopes.

I was carrying him on my chest and was waiting in line to weigh the envelopes when a nice older woman walked up behind me and started with her doting comments. 

"Ooooohhhh, a brand new baby"

(I smiled)

"Ohhhh, so tiny...how old?"

("a month")

"Oh, 30 days...so sweet....well, he looks healthy...."

(head nod and smile)

There I stood in the line at the post office, stunned into silence, not knowing what to say and not wanting to engage in dialogue, but with my mind having so much to say.   "Ya, so does my atypical toddler who has a rare genetic mutation and is at home with her nurse"..."What does that even mean? What exactly is your point? and What made you say that?"  My heart stung a little and sadness overtook me for the split second that it took before it was my turn at the kiosk.

When Sonzee was a month old she was already diagnosed with epilepsy.  For all intents and purposes, she too "looked healthy" despite graduating out of the NICU just 2 weeks prior.  She was growing typically and in fact was my only daughter to be in the 50th percentile for height and weight (ever).  She didn't have any feeding tubes or surgical scars.  She had already had 3 lumbar punctures, a 45 min EEG, MRI, numerous blood tests, genetic testing pending, and a PEMU stay under her belt.  She was already delayed in all areas of her development, but her deficits were not visible to the naked eye.  I remember how torn I was by the fact that people couldn't tell her daily struggles by merely looking at her.  No physical representation of the inner hell she was experiencing daily or the struggles we were facing.

I kissed Sonzee's brother's head and wondered what this woman thought "unhealthy" looked like.  I wondered what experiences in her life, with maybe her child or grandchild, specifically compelled her to make the comment.  I can't and wouldn't honestly be able to wrap my head around Sonzee's brother (g-d forbid) not being healthy, but we don't know what his journey has in store, and all I have to say is from my personal experience, looks can be deceiving.

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Adjusting...

It has been a week since we brought home our new little man.  A week of adjustments for Sonzee and for our parenting of her.  She has been receiving extra love while in and out of the Ryan House and we couldn't be more thankful for having such a facility to help us care for her.  Her seizures have continued to be atrocious and I have already sat on the floor breastfeeding a newborn while consoling her and simultaneously crying.  Honestly the weight of it all at times is a bit much.  I have found myself wondering "why her?" and "why us?" more often than not.  

I know this newborn stage will fly by for our little man and I am torn on wanting to cherish and pause every second of it all and wanting it to fly by to be a bit more manageable for myself.  My heart is in a constant battle with itself bursting with joy and sadness literally in the same seconds.  Watching little man perform a simple task of moving his eyes in a way that Sonzee never did, focusing on my face with the blank newborn look of curiosity, another thing Sonzee never did.  All these small little things that he is doing that had me on edge with Sonzee because "something just wasn't right".  My heart simply hurts for her, for what she must endure, for what she doesn't get to do, for what her siblings won't have with her, for what I can't change or fix, for what we missed out on together.

I know the next couple of weeks will involve a lot of tears, both happy and sad, as we learn how to balance our "new normal".  I know it will be filled with a multitude of smiles and some stings to the heart.  I know it will be filled with a mixture of doubt and worry, deep breaths, and confidence that things will work out positively as I slowly learn to overcome the fears brought on by having a newborn turn out to be a statistic.  I know this part of our journey is going to be filled with difficulties, different trials and errors, and a good portion of mommy guilt...but then I have to ask myself, what journey isn't?

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Playtime Interrupted

Oldest: "Ema can I play with Sonzee in my room?" 

Me: "Yes, just be careful when you push her in the chair not to get her wires tangled"

Oldest: "Come on choupers, let's go"

(Some time goes by)

Oldest coming to me: "Ema, Sonzee is having a seizure, why does she always have a seizure when she is having fun?  I was reading her a book and she was smiling and all happy and then she had a seizure again...it's not fair"

---

Our oldest was just 5 years old when Sonzee was born.  An innocent, light brown haired, blue eyed, loving, caring, full of personality, dancing, playing around, typical big sister who has always loved to dote on her siblings and had to learn at the age of 5 what a seizure looked like in a newborn baby.  At 5 years old, she was wise beyond her years, but still a bit too young to fully understand or grasp all of what CDKL5 meant for her youngest sister.  Sam and I have tried over the past 2.5 years as hard as possible to protect her little mind and heart, answer her questions, give her only necessary information, and essentially trying our best to support her innocence a little longer.  However, our little girl is becoming older, smarter, and now at the age of 7.5 she understands more, hears more, knows more, feels more, and hurts more. 

I am not quite sure what hurts me most about Sonzee's seizures during her sibling playtime, the list is so long.  I hate that it disrupts a happy moment occurring between them all.  I hate that she has seizures in general and they occur so often that this conversation happens at least once a day.  I hate that our oldest must experience at 7.5 what I do now at 33.  I hate the sound of defeat our oldest has in terms of her play session being cut short due to the seizure "because Sonzee was having so much fun".  I hate that my only answer is "I know it stinks you guys were all having so much fun".  I hate that our 7.5-year-old rebuttals with "why does it ALWAYS have to happen".  I wish my reply could include more substance than "I don't know, it is such a bummer".  It ALL hurts.  It ALL breaks my heart.   

The silver lining comes at the end of the seizure, when I relocate Sonzee to her bed to rest and her oldest sister asks if she can finish reading to her in her room.  Our oldest and I have one of our typical sevenager disagreements because she wants to show Sonzee the pictures and cannot reach her crib, and I assure her it is ok, Sonzee will just listen because she is too tired at this point to look at the pictures anyway. I leave the room to two sisters, the 7.5-year-old reading to the 2.5-year-old and can almost for a split second forget the events that preceded and the fact that one of them has intractable epilepsy.  I will replay the events in my mind and will pray that tomorrow's playtime will go differently, but first I will memorize this image...because this gives cushion to the pain.  This love that our oldest has for her "twin-girl" is something that brings tears to my eyes.  She has her own twin size bed, with a memory foam mattress (that I personally think is extremely comfortable), but instead insists on sleeping on a toddler bed in Sonzee's room.  This brings me a wave of comfort even if it is just a ripple.

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Sensitive emotions

I can clearly remember how Sonzee was 2 years ago when she was close 5.5 months old.  Her diagnoses of CDKL5 known to us already for a little over 3 months.  She had been enrolled into therapies for 4.5 months at that point.  Her seizures were finally under some semblance of control, only happening every other day.  I remember being upset with that form of control.  I remember despite knowing the odds of her sitting, walking, talking, and/or being functional I was filled with so much hope because she was so young.  I remember distinct conversations with her physical therapist where we would both say that "Sonzee will...." and "She is so young....".  I remember feeling like maybe, just maybe, she would be the outlier to the (extremely few) journal articles written that gave the statistics about children with CDKL5.  

I can clearly remember 14 months ago when Sonzee was 15 months old.  Her life hanging in the balance as she spent a month in the hospital with it unknown to us whether she would be leaving the same doors we brought her through in our arms.  Her amazing therapists came and sat there encouraging her along the way.  She was swollen from medications, TPN, and additional fluids.  She had transfusions of blood and various other items to balance her metabolic panel, and developed an allergic reaction to the one seizure medication that at the time she appeared to be responding to.  Her seizures were at bay, but her physical development was far worse due to her failing body.  I remember feeling utterly helpless and wondered if it was going to be our turn to join those who had lost their CDKL5 children.

The years have passed and our attempts to help Sonzee live her best life possible have not gone the way I personally have intended.  Despite the relentless seizures and the awful GI system she was blessed with, we have not ever stopped her therapies.  Her therapists sit in our home whether Sonzee is an active participant for the hours they are scheduled.  They reschedule when Sonzee is having a difficult day and they do their best to help her have the best quality of life possible.  I will never say that the diagnosis of CDKL5 defines who the essence of Sonzee is, BUT I will loudly announce that it plays a crucial crucial role in her body's ability to achieve skills and perform "simple" tasks.  

Last night was one of those times where I felt like such a failure despite all the therapeutic efforts we have tried with Sonzee.  I truly believe that the words that led to my feelings were not intended to cut me like a knife.  I will lend it to me being super sensitive, but I am going to embrace the pain they caused regardless.  No Sonzee does not sit, she does not even want to be held upright at times.  She is wheelchair bound, and this is not changing any time soon.  Her physical abilities do not have anything to do with her personality so I do not let her lack of development negatively affect me.  It is probably irrational of me to be the slightest bit disappointed with myself over her development when just yesterday over an 11-hour period she endured 3 seizures and slept 9 of those hours.  There was no time to squeeze in any attempt at physical therapy.  I will take a guess that her day today will be similar, but she will be up for the challenge in true Sonzee fashion.  She is her absolute best even with the CDKL5 mutation she was allotted and I will continue to tell myself I am also.

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Becoming aware

I prefer to do positive style posts because that is how it's best for me to deal with all things CDKL5.  The past week and a half I have spent each morning deciding which fact I would be sharing about life with CDKL5.  My goal is always trying to balance shedding light on some of our hardships while also putting a semi positive spin.  However, almost two weeks into this CDKL5 awareness month and it's safe to say it makes me more aware of just how tough life with CDKL5 is.

Over the weekend I wanted to share a fun fact or two about CDKL5.  I wanted to capture little bear completing some challenging task that requires her a bit more effort, or her sitting and being happy/content like a lot of other children with CDKL5 mutations.  I just wanted to share a picture of her adorable little smile, or maybe even capture a laugh...but none of those things happened.  So I skipped posting.  It's one thing to go on with our days experiencing each one of them as they come, but it's another to realize that things aren't so great.  I guess I don't give it much thought as a whole, but wanting to write a post makes me have to "accept" what exactly is going on.  

Sadly a typical day for Sonzee begins around 6:30am with her crying.  It takes Sam and I multiple guesses and attempts to calm her before she calms for a bit either in her bouncer, chair, or with some cuddles.  The calmness only last temporarily and then she's back to her cries and screams.  The rest of the day is a gamble of how much she will cry or be miserable.  The majority of days she spends clearly uncomfortable and so we spend the majority of our time trying to figure out what she is telling us so we can fix it.  We usually fail miserably and eventually we give up.  We change her position all day, give her cuddles, the kids attempt to play with her and entertain her- it's usually a major fail.  Eventually it's bedtime and thankfully she sleeps at night or occupies herself quietly in her crib.  Then we get to experience our own real life Groundhog Day on repeat...every day.

It's been challenging to adequately represent CDKL5 for Sonzee and be respectful of what I would think she would want me sharing as far as pictures and her day goes.  I guess this is the whole part of spreading awareness.  Letting others know they aren't alone if their child who has a CDKL5 mutation isn't always smiling and happy and reminding me that it's okay to be angry about the fact that this is the life of our two year old.

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No longer a baby...

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

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

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

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

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


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It's been busy

Life is busy.  It isn't busy in a bad way, just the typical chaos of having a family of six and the school year winding down, doctors appointments, extracurruicular activities, and getting ready to head to Florida in a couple of days for a family event.  I try to do posts two to three times a week, but each time I opened the screen to write something over the past week, I ended up just staring blankly at the screen.  So much going on, yet nothing I really want to write about.

We are traveling again on Thursday this week and we have (thankfully) chosen to fly Southwest.  I am not really that worried as our typical experiences with them have been nothing but amazingly accomodating and the one small glitch we had was not with any member of the airline, but just disgruntled passengers.  So I am hoping to report only good things.  This will be her first time flying with her VNS, and I am slightly excited to show them her little card.  We have never had issues going through security with her feeding tube connected or with her supplies, so again, I am not worried, but it is always a little anxiety filled leading up to the actual experience.

We have an official start date for the construction we have been planning for the past two years.  We begin demolition a week from today and it will probably be 4-6 months until everything is completed.  I am extremely excited to be getting a garage so that will make getting Sonzee in and out of the house much easier.  We are also giving her her own room in our master bedroom which will be great for everyone.  It sometimes doesn't really process in my mind that we have a two year old toddler sleeping in a crib right next to our bed.  While we have decorated her small little corner with her name on the wall, and she has almost an equal amount of furniture in our room as us, I am sure she will appreciate her own space.  The best part of her new room is that it is literally a wall seperating her from us, but it won't add any additional time in getting to her quickly.

The other main event that I have slowly been getting ready for is our trip to New York for the summer.  It will be nice to not be home during the invasive portions of our construction, and it will also be an amazing retreat for us.  I am really hoping Sonzee's tube issues have been sorted out prior to us leaving because the nearest children's hospital will be 2 hours away and I would  prefer not to get on an email correspondence basis with any doctors there.  We were extremely lucky to have an encounter last summer with a doctor who works at the pediatrician's office, so hopefully if she requires anything at all, it will be the basic lab work and quick/easy fixes.

Seizures unfrotunately have not improved, but we are hoping once we start to amp up her VNS on Wednesday that will change.  We are also going to be weaning her of her medication, as the VNS will take the place of hopefully preventing status epilepticus, it is a fancy term for saying a nonstop seizure state.  If you click on the link you will notice more recently they term "status" as a seizure lasting longer than 5 minutes, and Sonzee's always last 5 minutes so we are basically concerned about one that might not stop after a rescue medication was administered.  There is no way to prevent it, nor do they really know what causes it, but it is definitely more common in patients like Sonzee who have uncontrolled epilepsy, so we like to keep her "armed" in a sense with at least seizure fighting modality.  We would just prefer to not have the side effects of these medications that are clearly not helping her seizures at all.

I will hopefully post a blog or two more this week.  Thank you all for keeping up with Sonya's Story.  I am happy to report that we will be sending off our contribution to UCSan Diego to help store Harper's cells within the month.  It feels amazing to have raised $5,000 to go towards this cause.  Thank you to everyone who has donated so far.  If you haven't checked out the awesome perks, please be sure to visit: Sonya's Story: Feeding Harper's Cell Line.

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Reminders

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

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

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

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

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You'll get used to it

"You'll get used to it"

The words I heard at 3am a little over 2 years and a month ago when I first brought Sonzee into the ER.  I remember how angry that phrase made me and how badly I wanted to punch the nurse who said them.  While it wasn't the most ideal time for her to say those words aloud, it turned out she was right.

Sonzee is back in surgery.  They called about 5 minutes ago to say that her doctor began the procedure.  It should be approximately 90 minutes until she is done and we get to see her.  I am sitting in my comfort spot with my "usual" PCH breakfast, a salted caramel oatmeal and a coffee, and I am blogging. This is my normal and I am used to it.  There shouldn't be anything routine about your child going under anesthesia but then again a life with CDKL5 shouldn't be either, yet this is life.

I am not even phased anymore about these types of procedures, they carry risks I don't even listen to because if I entertained them I wouldn't be able to breathe.  I don't even ask to hear statistics and if they are mentioned I honestly don't listen, because let's face it, when you become a statistic, what does it matter anymore?  I prefer to just ride out this journey without being fogged by the "chances are" because Sonzee's odds are completely her own, and I have learned if there is a small chance of nothing, with her it can become something; and if there is a small chance of something it can become nothing.

So here I am 2 years later and I want to go back to that nurse and tell her that her delivery was a smidgen off, but she was right, I will get used to it.



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Monday...

It's Monday afternoon and I'm sitting in one of those comfort places of mine.  A place that I see friendly familiar faces, occasionally a friend or two, and the faces of parents who don't have to talk but I can read their thoughts as they hold their phones with the hand sporting the bright orange bracelet.  I'm sitting in a comfortable red chair, facing the wall with the dancing flowers and Phoenix Childrens Hospital hands that our three year old loves to jump on as they flash across the floor, and next to the Starbucks where the barista asks where I have been if she has not seen us in a week.  We have nowhere to rush to and Sonzee is asleep (contemplating having a seizure; I can feel one on the horizon) and so I'll sit  here with my coffee and oatmeal and write.

The seizures unfortunately haven't gotten any better.  I was not expecting them to, so it isn't a disappointment.  I'm not even upset that for the past week we have been in "new medication choice limbo".  Sonzee's epileptologist gave us three choices (she is so sweet) and we ultimately get to make the decision.  I often chuckle about the fact that our choice is which antiepileptic drug we try next.  It is just so comical that this is actually a choice we are faced with every 6 months or so.  So naturally for over a week we have played the "which side effects are the least atrocious" game, we actually came to a decision in what I consider record time, and we have chosen Zonisamide.

She is still being weaned (because we take things extra slow with her) from Gabapentin, a failed drug for her that we were using for pain.  Now we will start to wean Sabril.  There is no reason to expose her to the potential retinal and vision damage if it isn't helping as much as it used to.  Her seizures have changed and so Sabril is no longer effective.  We are going to wean her extra slowly just in case we need to keep her on a low dose if it is keeping the spasms away and her background clear.  I am unsure what to think about the changes.  I have the butterfly feeling in my gut, but not the fear I have had in the past.  I wonder if I am actually getting used to parts of this life.  I don't know which way things will go, but it will either be a disaster or another (temporary) miracle.  I know better than to create any type of expectation, so I'll just ride this one out.

We leave tomorrow for Colorado.  We will meet with a bunch of doctors, but I'm really only concerned with the GI doctor's opinion.  I am looking for a lot of answers and I know if he doesn't have them, the odds of someone else having them are extremely slim.  I don't want to get my hopes up, but I think that's too late.  I know this visit will be greatly different than the one we had when Sonzee was 4 months old.  They won't tell us they haven't seen her skills in other children with CDKL5 and they won't say that she is doing fantastic for a child with a CDKL5 mutation.  Sam and I will most likely look at the other children there and wonder why her progress hasn't been the same.  We will say it's because of everything she has been through, but it won't make it better because still I wonder why it had to be her.  An answer I am guaranteed never to know.

So for now I will just sit in this chair that has turned into a comfort spot, drink my coffee, and smile at the fact that while writing this post I ran into a friend and made a new one and consider the fact that sometimes it isn't about the answers, it is just about where the experiences on the path to potential answers takes you.