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
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...