Fractured

For once I just wanted to be able to place the blame on something other than CDKL5.  I really felt it was time for once in her life to get an ACTUAL real answer versus "it is due to xyz because of all things related to CDKL5, but not directly a symptom of CDKL5".  Would the answer have given us anything more concrete to work with?  In my mind, yes.  Reality?  I suppose we won't ever know.  It is amazing what happens when your child has a broad diagnosis; everyone spends more time blaming every other specialist, never taking any ownership over the symptom, deferring out the responsibility of treatment to someone else who feels it isn't really their problem and then nothing changes and no one helps.

Maybe a new diagnosis would not have given her any better treatment, but I felt like it would have doctors actually tell us if we should or should not be pushing her to weight bear to help her bones improve.  Maybe they would give us a game plan for ways to protect her?  I feel like we have essentially been left out in the cold.  Any answers come after asking the same unanswered questions 15 times and then it is as if they are doing us a huge favor by giving us a reply.  I have no idea what to do to help her.

This is a quick snapshot of "explanations" being given to us (and then my thoughts):

Her weakened bones and fractures are due to lack of weight bearing.  When she weight bears she fractures a bone.
Her fractures are due to severe osteopenia from being non ambulatory.  We cannot get her to be ambulatory because when we try she fractures a bone.
Speak to Endocrinology for best ways to manage osteopenia and her weakened bones.  We did, she's on supplements and she had an infusion that caused such negative effects to her I never want to put her through it again.
Her weakened bones are due to seizure medications. NOT THE ONES SHE IS TAKING, and guess what, she won't be coming off of those any time during her life.
Her weakened bones are due to lack of nutrition.  She now has greatly improved nutrition.
Her weakened bones are due to GI medications.  If she had been on them for 30 years.
Her weakened bones and fractures are due to CDKL5.  Not according to the CDKL5 guru.

What do we do for her?  We have already padded her bed, her activity chairs, her wheelchair, and anywhere she is placed.  She has done weight bearing one time since September and it resulted in a new fracture.  She has been sitting in a cube chair at school, could that have caused compression fractures T5 and T6?  Every time we explore a new avenue for her, her body lets her down.  This is almost worse than watching her endure daily seizures.  Or maybe in another almost 4 years, I will be used to it just the same?

Hollow

It's Monday night and I am finding myself in a situation I know all too well.  Around 3:30pm they transferred her from our past weeks residence of 8118 to PEMU room 8138, to get a behind the scenes look at her seizures.  I have now spent the past 4 hours hitting buttons and documenting potential activity.  The familiarity and absurdity of this life rerun catches me after the last button pressing.  She has been whimpering for 20 minutes now, almost an ironclad confirmation that the reason I hit the button was validated, I will know for certain in 12-14 hours.  As I look into her blue/green eyes they taunt me; that was stupidly the wish I made the whole time I was pregnant, "please let me have another blueish eyed baby".  I see the glossiness in her eyes as she whimpers and the emotions build behind mine. 

I don't understand.  I really do not think I ever will.  Why her?  Why me? Why us?  We should be home with her siblings, with Sam, in our house.  I should not have to be here alone during another holiday.  It hasn't even felt like one to be honest.  Since Saturday I have read more than 500 pages of a book I never would have considered opening, finished 5 magazines from cover to cover, timed airplanes taking off and landing, and studied the arrival and departure of cars from every parking lot that is within my view.  This is not my first time completing the tasks that I just listed.  In fact, I am pretty sure I have resided in each of these rooms at least one other time over the last 3.5 years and have partaken in other meaningless time eating activities.  At least I got the rooms with the bed.

My heart hurts for Sonzee in so many ways.  Another specialist now added to her list, more diagnoses added to her already lengthy compilation, and more pain.  Always pain.  Why couldn't her CDKL5 mutation give a lifetime of laughter and trouble with being too happy?  Why couldn't she just not have a CDKL5 mutation to start?  Instead we have nights of pressing buttons that result in more taunting alarms that are triggers in and of themselves, taking me back to the very first stay when she was only 4 weeks old.  I can still picture everything about that stay, as I stared at her image on the screen in the video I even saw her look the ages she has at each PEMU hospitalization, these wounds won't ever heal.  The room itself is taunting as it gives us new information but rehashes the old. 

A CDKL5 mutation for her is the gift that keeps on giving...or rather really doesn't give anything appropriate in order for her to be pain free and content.  When I think she has hit rock bottom I quickly learn there was so much further she could go, because she has hit it now.  That is until the next byproduct of having a CDKL5 mutation comes sneaking out from the depths.


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