What is CDKL5 and the purpose of Sonya's Story

Tuesday, March 21, 2017

Same place different year

It is 10:45pm on March 20, 2017 and we are in room 8128.  We do not normally face north so this is a nice change of view for me, instead of watching the planes fly into Sky Harbor, I get to watch the cars drive on SR 51.  Since March 2015 during this exact week I have found myself surrounded by the same walls, in various identical rooms, and usually cared on by a friendly face.  With a stroke of luck, it just so happens that tonight we are with one of Sonzee's very first PEMU nurses.  One of the benefits of the experience is when the nurse coming to take you to your room opens the door and says "welcome back" and you see the same smiley face that has been there to wipe your tears in the past.  

There are so many adjectives that I have in my mind to describe being in this predicament; comical takes the lead, followed by unfortunate, nervous, weary, relieved, eager, and my list definitely goes on.  I foolishly started to think that we would slide right past this anniversary without celebrating in Sonzee style.  I suppose that is what I get for getting too overconfident, for thinking that things could actually take a positive spin for little bear.  This is the part that hurts me the very most.  I just cannot understand why my baby girl just cannot catch a break.  Every time I start to see a small glimmer of hope it just gets ripped away.  I really am having a huge challenge comprehending this reoccurring Groundhog Day type of testing.  Clearly something is not being done correctly or it would have stopped repeating already.


This is one of those parts of living the medically complex special needs type of life that makes you muster all that is inside you and push through because there is no other choice.  There is no other way to make it through these times without reminding yourself that there is clearly a reason for all this pain and anguish and it will one day be revealed...unfortunately it was not in 2015, 2016, or 2017...and in 2018 I will just buy Sonzee a cake and schedule an in-home party for the week of March 18.

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Thursday, March 16, 2017

Uncertainty...

It has taken about two weeks and endless hours of multiple people's lives (that no one will get back), but we are finally going to be able to give Sonzee her first dose of her new seizure medication, Zonisamide tonight.  While we try not to do too many changes at once, it is always inevitable that certain things will overlap and in this case it is all medication based, so hopefully things won't go completely wonky.

In a sense the comical insurance ordeal played out in our favor as it gave us time to do a slower wean of her Sabril and as of yesterday she was given her last dose of gabapentin.  I am unsure when the build up of these drugs will fully be out of her system, or for Sabril to be at the current dosing level, but these times are always a bit nerve wracking for us.  The gabapentin we are 100% sure did nothing for her in any area so I am just looking forward to seeing what, if any, side effects she might have been having that we didn't really notice but are now will no longer be bothering her (i.e. Dizziness, blurred vision, headaches, etc.).  As far as Sabril goes, it is not an effective treatment for her current seizure type (I call it the seizure variety platter as it displays itself in various forms over a 5-7 minute time period), but we are unsure if it is still keeping the nasty spasms at bay and responsible for her EEG background being clean.  To say we are petrified about being off that medication is quite an understatement, but we also do not want her on more than two seizure medications at a time and keppra is effective at keeping another form of her seizures away, so it is what it is.  

It is always trial and error, and sadly it is Sonzee who has to be the house Guinea pig.  At this point I am eager to see how she reacts to the zonisamide and am hopeful it will treat her current seizure activity.  I just pray (as usual) that the changes we are making just make tiny ripples in the water, that we don't rock the boat too much, and most importantly that is does not capsize.

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Tuesday, March 14, 2017

Unexpected excitement

It does not cease to amaze me that one minute I can be mourning parts of the life we now lead and then a mere 60 seconds later I can be so excited about something I never imagined myself being elated over, such as purchasing new medical equipment.  Maybe it is because in my mind I had always pictured Sonzee in most of the equipment we have already gotten for her, or maybe it is because I always anticipated it would be in her cards.  Whatever the reason I will embrace it and admit aloud how I am extremely excited (and quite ready) to be on the mission of ordering her wheelchair.

I have spent hours online looking at what I felt would be the best fit for her.  I of course want her to have all the bells and whistles and for me I cannot emphasize how excited I am at the prospect of having specific areas to place her rescue medications, feeding supplies, and portable oxygen concentrator.  Those items can be extremely heavy and the stroller does not provide adequate storage opportunities.  I am looking forward to her having an adequate tray for toys while we are on the go and proper support for her body because it has to be frustrating for her when she is tired and her head flops to the side.

I believe we have settled on the R82 Stingray tilt in space and I am so excited!  It looks like a stroller (this might be annoying as she gets older), pushes like a stroller, and as far as features go it has a million.  My favorite is the 180 degree seat turning option so she can face me or face outwards.  It can be taken apart and folded to be stored and will fit in the back of the mini van folded.  I never anticipated this moment to be filled with actual joy and eagerness, maybe that will change when it arrives, but I am pretty sure based on my feelings right now that I am just ready and have accepted this portion of the journey. Now to see what color she chooses!


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Friday, March 10, 2017

Will it go away?

We spent two days this week at children's hospital of Colorado because they have a center of excellence for Rett Syndrome, CDKL5, and FOXG1.  This was our second time taking Sonzee and I am glad we went.  We learned some new facts that we had not known prior to this visit, for example, Sonzee has a 5% chance of being seizure free in her life (but realistically it's less than 1%), and if she learns to sit by age 3 she will be more likely to walk.  Neither is to say she couldn't ever be seizure free or learn walk even if she isn't sitting within the year or a miracle happens with her seizure control, but the odds begin to stack against her as time goes on.  Luckily for all of us I never planned on seizure freedom for life for her and my main goal is only for her to sit, so even if it happens when she is 10 that would be okay by me.

Parts of this life are getting more challenging to process.  Everywhere I look I see typical 2 year olds, and I can't stop wondering what Sonzee would be like.  Even looking at the other children with CDKL5 mutations I can't help but feel like Sonzee was given the short end of the stick.  I wish she was at least happy and smiley, but she's constantly miserable and in pain.  I'm so worn down from it.  It's one thing to have a child not complete milestones, that in and of itself is devastating, but tack on a stomach with dismotility, feeding into the intestines, constant GI pains, and unhappiness, and that's the life of Sonzee.   

I'm having a hard time with the tube being gone from her face and it has only been 9 hours.  It was my safety net while out in public, it was how I coped with her not being a typical toddler...now it's hidden.  It will only be revealed by the question of "how old is your baby?"...I keep playing with the blue stroller=wheelchair placard I have to make sure it's clearly visible to strangers. I keep placing her feeding tube extension in a location that is noticeable.  I don't like this.  I feel like too much is changing, but not anything is changing and it all makes me feel like things are spiraling out of control.  I'm feeling like I have completely failed her in all areas and I wonder if that feeling will ever really go away...



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Tuesday, March 7, 2017

Some days...

The majority of days it doesn't phase me that our life is atypical.  I am so used to it now that it has just become routine, almost an afterthought, especially when I am without Sonze.  There are always times throughout the day, even on one of my "majority days" where I momentarily yearn for the normalcy of what life could have been, but I don't ponder it for too long because it doesn't change anything.  But then there are some days that something happens and I feel like I've been stabbed in the chest.  Those moments come out of the blue, randomly, and catch me completely off guard.  They are usually triggered by something typical that I had forgotten used to be or should be in my life.

Today it happened as I was watching Sonzee's older sister at gymnastics.  We don't normally attend Tuesday, but due to us going to Colorado we scheduled a make-up class.  Sam stayed at home with Sonzee so she could have her rescheduled PT session, so it was just me and my coffee enjoying the view.  I was sitting down watching all of the classes when the slap occurred.  Coach Susan was teaching the "mommy and me" class.  The class that Sonzee should be in, the class that she would have been in because it occurs at the same time her older sister's class occurs.  I had forgotten I changed from Tuesday to Thursday for her older sister specifically because Coach Susan has that "mommy and me" class and her aged class has a different coach, or was it more as a protective measure to prevent the situation I found myself in today?  I watched the class for only a a couple of seconds before everything clicked and the tears came into my eyes.  I was talking to another mom who doesn't know about Sonzee so I quickly rid myself of the tears.  But the pain still remained. The emptiness in the pit of my stomach still remained.

I dislike these little "punches", once they happen the sting remains for the remainder of the day making me somber and annoyed.  It's hard to bounce back to being "okay" with how things are after such a stark reminder of how much things aren't typical for us.  I know these moments will still continue to occur, I feel like I've written about them before as well.  I am thankful and glad that the majority of my days are spent wrapped inside a world that has become my familiar territory.  It's a place that I feel safe and comfortable and where we belong.  But on some days I get pulled into a life that isn't mine, but one I'm not quite ready to give up.

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