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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Still trying to accept...

I know one of the harder parts of this journey is acceptance.  While I have experienced brief moments where I am content with how things are, I can admit that I have not truly accepted everything CDKL5 has thrown Sonzee's way, but I don't think I ever will.  Usually after watching one of Sonzee's CDKL5 siblings who is around her age celebrate the mastery of a skill that Sonzee still cannot do I tend to feel the saddest.  While I am genuinely happy and excited for each of them as they meet their own inch stones, it makes a small dent in my heart and the doubts of what we are doing for her creeps in.  What are we doing wrong? Are we not giving her enough therapy?  Is it our fault?  Could we be doing more?  Should we be doing more?  Will more make a difference?  

This train of thought begins to wreak havoc in my mind and an internal game of devil’s advocate ensues.  Even if we give her intensive therapy it won't make a miracle happen (we have tried that).  If we do more therapies, she will surely excel (she seizes and then sleeps through the ones she currently has).  If we pushed her she would meet her milestones (she is doing her best, she cannot beat genetics and her mutation is not a "lucky" one).  She is happy and content (Is she really?)  If we finally got control of her seizures that would surely help (No. It won't because even during her 5 weeks of seizure freedom that she has experienced twice in her life, she made zero gains developmentally).  You are doing your best for her (No I am not because she should be able to hold a toy or sit).

Lately it feels like every CDKL5 sibling around Sonzee's age has blown past her.  They are sitting, pushing to sit, rocking on all fours, crawling, bearing weight, walking with toy walkers, walking holding hands, and/or walking on their own.  Maybe it just feels that way because I am feeling like it is my fault she has not moved beyond a 3-4 month developmentally.  I remember when she was 4 months old and Sam and I had dreams she would be the one who would defy the CDKL5 stereotypes.  She was taking part in every therapy under the sun, it didn't matter the cost, she would have it all.  We bought or asked for every possible piece of equipment that might make a difference that was age appropriate.  Here we are, her about to be three and I don't want to give up on her being able to sit...but even that has not happened.

I know mastered milestones do not correlate to the level of success a person has achieved in his or her life, but as a parent of a child who has hardly completed any I just feel like a huge and complete failure.  I know we have tried everything we possible could to help her and I do not know how to accept that maybe she really will not ever meet any of these "basic" life skills or that there is nothing more we can do to help her complete them.

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What if it's not?

During this past pregnancy (as well as all the others) when people would ask me "do you know what you are having?" or "is the baby a boy or a girl?", it was typically followed with, "just as long as it is healthy".  I would nod my head in agreement because what else are you supposed to say?  It could get awkward really quickly if the next words spoken were, "What if the baby is not?".  Yet honestly, what if it's not?  I have been wondering to myself recently what exactly does a person mean when they say those words.  I can assume each person who makes the comment has a different reason as to why they have said those words, but really, what do they mean?

Me personally after having a child who ended up under the category of "what if the baby is not healthy", I can tell you I am not offended by the phrase itself; but during this last pregnancy the words took on a new meaning.  I am not ashamed to admit that I said "as long as he is healthy" aloud to anyone who asked me the gender question.  I know in a way that not every mother does what it means when your child falls under the other category.  I have lived in a hospital, my house is filled with medical supplies and equipment, my children excitedly yell "Sonzee's hospital" every time we drive by Phoenix children's hospital, I have watched her endure too many medical procedures, and I have had to play the "what happens if Sonzee doesn't make it this time" scenario in my head more times than I can count.  While some experiences of parenting are worth repeating, these are not ones I was begging to do with another child.

No one asks for "unhealthy", but sometimes that is just the card that gets played.  I promise I do not love Sonzee any differently than I do any of my children, but I also would never want to watch another child suffer like she must.  It is already too much to have to wonder what her thoughts are in regards to having to endure what she must on a daily basis.  Having to carry the burden of literally making life and/or death decisions on her behalf is often times just too much to handle.  When strangers would say "as long as the baby is healthy" my mind would of course turn to Sonzee.  Her almost three years has been filled with a mixture of joyous occasions and challenges, tears and some smiles, fear and hope, and missed milestones and completed inchstones.  It has been a roller coaster of emotions and events all along the way...and still I wonder when someone says "as long as the baby is healthy" what if the baby is not?

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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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Tug of war

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

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

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

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

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Focus

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

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

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

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...unsure

For the past couple of months we have been slowly weaning Sonzee from one of her medications in between increasing a new one.  The one we are weaning is the highly addictive benzodiazapine medication, Clobazam (also known as Onfi).  It was one of those medications on the "I would never give my child that medicine ever" list, but then life happened.  She has been on the medication since August and while she thankfully never experienced any of the severe respiratory distress issues that she could have, her seizures sadly never abated either.  Instead of waiting for her new medication to be at the highest therapeutic dose to wean her more consistently, it was decided after her most recent palliative care visit in December that we would focus on only weaning the onfi and not increasing the new medication. 

About 2 weeks ago we noticed Sonzee started to act more lethargic and just not quite herself.  We thought maybe it was effects from the wean so we held off on her wean for a week.  We waited to see if she was getting sick.  We attributed it to any possible excuse we could fathom, nothing gave us clarity yet nothing was improving either.  After this weekend we decided to contact her doctor and get some lab work, surely that would shine some light onto the situation.  The results came back with nothing significantly out of normal ranges, we have no better insight into what could possibly be going on in her little body. 

I used to think that we could be on top of the situation, one step ahead of any potential danger zone, but I am slowly coming to terms with the fact that maybe that really is not possible.  I hate sitting here feeling less in control of a situation I didn't have any control over to begin with.  No leads to go off of, no place to look at next...just forced to sit and wait for her to look and act healthier but not knowing if that is the direction things will go. 

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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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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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