What the Hell Just Happened?

Although it had been in the back of our minds, my wife and I didn't think nearly as much about the possibility of our children being afflicted with Fragile X Syndrome as just having kids at all. Through various trials and tribulations, we finally got pregnant in late 2011 with our son, Henry.

He was born in June of 2012 and has been a whirlwind of awesomeness since then. Given our age, we realized that if we were going to have any more children, we needed to get on it soon, and so in early 2013, we found that we were pregnant with our daughter-to-be.

Great! A matched set! The first ultrasound gave us devastation, however: a 4mm-thick nuchal translucency.  That was a heavy indication for Down Syndrome. Over the following weeks, we saw specialists after specialists, mid-day appointments after early morning appoints, before evening appointments.

In the end, the nuchal translucency had actually disappeared and the blood tests for Trisomy 13, 18, and 21 all came back negative.  But we weren't out of the woods yet, of course.  We needed to test for Fragile X because of my wife's family history, and because Henry, at this point now about 10 months old, was exhibiting some significantly observable developmental delays that could correlate to Fragile X symptoms.

The test for my wife came back with pre-mutation positive.  The test for the new baby came back full-mutation positive (my test for FX carrier status came back normal).  More tears and despair.

But given the awesomeness that is Henry, we just have to buckle down and be strong.  There's always a chance that she may not be affected, and even if she is, who knows what life has in store?