Sunday, August 4, 2013

here

 here and gone.  
most of the time, whether I'm blogging or not, we roll from day to day- Ups and downs all part of the flow.  
Focusing on the positive. 
 Every once in a while this life seems far too big, far too overwhelming, far too full of GRIEF to attempt to sit and type happily away- la dah di, la dah dum.  Unless you lived inside my head (or, bless his heart, you are the husband who has no choice in the matter and has to hear it ALL) , I don't imagine you'd ever know it. I work pretty hard at keeping upbeat and happy.  a smile on my face and a soft, easy voice.  

 so.  
 so I go MIA from what I can... real life never, cyber life yes indeed! 
Then, when I'm ready, when I can stop 'just surviving' and move forward... I come  back to the blog.  

I'm happy to say I kept exercising :-)  and eating ice cream :-) and that we raised a BOAT LOAD of Fragile X Awareness!

over 250 people that we knew wore green on July 22nd in Honor and Support of Abraham !!!! 250!!! 2 different High school football teams and their coaching staffs, ER Nurses and support personal,  Students and Teachers at the elementary school, Nursing Students, Families ALL OVER the WORLD!!! it was amazing :-) 


my Zumba group! 

a collage that my sweet friend put together of the last 30 that she saw :-) 

my brother :-)  someday I'll squat like that... not with that much weight, for pete's sake, but like... i'll squat :-) 


the husband and his football team- see Bodie?? 

our family :-)  

If I had to summarize FX in just a few short phrases, I think I'd like you to know that it's caused by an unstable repeat on the X Chromosome of the DNA building blocks CGG.  This shuts of production of the FMR1 protein... and this affects EVERYTHING- gross motor, fine motor, speech and language, cognition, sensory processing, connective tissues, anxiety regulation... EVERYTHING.  Some people are really affected.  Some are not.  My Abe is really, truly, seriously affected.  No words- no consonants.  high motor- high anxiety. moving, flapping, rocking, twirling.  FX is the leading known genetic cause of autism.  FX is genetic... I'm a carrier.  I have a pre-mutation of this unstable repeat on my X chromosome, and in each generation it expands.  I have 89 repeats- Abe has over 200- anything over 200 repeats of the CGG repeats without  *** new information!!!*** AGG repeats leads to  Fragile X.  I have 2 X chromosomes- one affected, one not.  Abe received my affected X, Bodie received my unaffected X.  No one in my family knew about FX until we received Abe's diagnosis.  

crazy business.  

so, lovey lovies.  pardon the disappearance- it'll most likely happen again, but that's ok because
 ---->

thankgoodness :-) 
xo 


linking up with Molly  for Funday Monday 

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