My youngest, who turned 4 months old on my 31st birthday, was a bit of a surprise. I guess she has always been on her own timeline.
I found myself going in for bloodwork, trying to wrap my head around this little being growing inside. My older daughter was just 18 months, so the appointments, blood draws, peeing in a cup, wasn't new.
But apparently the tests were. My midwife called me to discuss my results and told me I am a carrier for Canavan disease. She didn't know much and neither did I, but Dr. google did not help.
It's a recessive disease found in 1 out of 40 Ashkenazi Jews. Yep, that again. Infants don't live long after birth and it sounded like a painful passing. To ensure that our fetus was unaffected, we had to have Pat tested. And have our first encounter with genetic counseling.
We sit there, tell her our family histories. She puts it down in black and white. It looks so bad on that paper.
"You realize you should probably go for additional genetic testing, right?"
Yes, I always knew, but there it was staring me in the face.
Pat is not a carrier for Canavan's, of course. And our baby is beautiful and healthy. And maybe she saved my life, too.
I was 30+ weeks pregnant when I finally made my first call to Penn.