Flash-back...We were ecstatic to find out we were pregnant in March of 2010 after a loss at 10 weeks in September 2009. "Woo Hoo!"...I thought. Now it was onward and upward! We passed each pregnancy milestone fairly uneventfully....I swore this one was a boy (just like the my first daughter :-)). So much for mother's intuition, huh?
Then, on Tuesday, June 29, 2010 we were scheduled for our genetic counseling appointment followed by our 18-week ultrasound. The counseling appointment was fine....she went through her list of things to tell us and we were told we had really no strong risk factors or genetic connections to mark anything of note. But, still, for whatever reason, I fell apart. I broke down in front of the counselor and my husband saying I KNEW something was wrong...I suspected Down Syndrome. The counselor tried to ease my mind....my husband looked at me like I had 3-heads!
So, we went in for our ultrasound and the tech said "Everything looks great for your little girl!" We spent 7 minutes planning her future....then the doc came in. He silently studied the screen and I nervously looked back and forth between my husband's face and his...something was wrong. He said...."Your daughter has Spina Bifida."
Flash-Forward...since that day...we have spoken to many people about this Dx and found out so much more about our specific case. Our daughter has a bony lesion at L4 and a skin lesion at S1 or S2. We are current participants in the MOMS study at CHOP (Children's Hospital of Philadelphia) and recommend that anyone facing this diagnosis contact them...even if only for information purposes. They are a wonderfully talented and professional staff that patiently answered all our questions.
So, once again....onward and upward. Next appt.-September 27, 2010