Tuesday, March 22, 2011

Black & White

My family and carrier testing for SMA...

Our results were emailed through to me today
And it felt so much more real seeing them in
Black
&
White...
I'm not really sure why
Especially now that we are nearly 10 months from Diagnosis Day...


A mumble jumble of words and terms:
"confirmation of diagnosis"
"multiplex ligation-dependent probe amplification kit"
"homozygously deleted for exon 7 of the SMN1 gene"
"3 copies of exon 7 of the SMN2 gene"
"consistent with clinical presentation"
"SMA carrier status"
"the risk to the couple having a child affected with SMA is 1 in 4"


Black & White
And so very real...
But the words don't change who or what we are today:
SMA is part of us and our family
And there is no escaping it...

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