Looking on the bright side of things, because of the unique situation we're in {I suppose one would call it that} we got to find out gender super early through this really cool blood test. And in my book, the earlier the better b/c I'm a planner - so from the time the geneticist called to give me the news to the time Nick came home from work at 6:30 - I had everything picked out. Nursery decor, paint and fabric samples and furniture all ordered.
Many have asked {or maybe have wondered and too afraid to ask} 'what if this baby has Duchenne too?'. That's an absolute possibility - VERY small - but possible. As you may or may not recall, I am not a DMD carrier. Sam's genetic mutation happened spontaneously, so this baby has a 4.3% chance of having Duchenne. 4.3% is a tricky stat to think about...4 PERCENT (or per 100) is 1 out of 25 {embarrassed to say someone had to explain that to me}. And since Sam's condition happens to 1 out of 3500, thinking about it that way seems daunting. One out of 25 is way more likely to happen than one out of 3500 - and we already have the least likely scenario on our hands! We brought this up at the last appointment we had with Sam's doctor. He assured us {as did the genetic counselor we've been seeing} that this 4.3% is actually a very small risk. Without getting into it and confusing everyone - the percentage is taken out of completely different group. The number they gave us comes from the number of women who are not DMD carriers, who have a son with DMD, who have subsequent sons with Duchenne. So it would be very rare if this boy had it as well. Get it? yeah - I'm still scratching my head. But since we've already won the lottery from Hell, we are having genetic testing done on the baby immediately after delivery {we'll have a genetics team there to collect the cord blood and send it off} we don't want to be surprised 4 years down the road again. Knowing as early as possible about a potential DMD diagnosis is what we as a family need.
Kids are super excited...now. The video below is of me telling the family {including Nick}. Notice Sam's fist pump and Caroline slapping her forehead in disappointment.
Since we didn't find out the conventional way via ultrasound, I got the phone call from our GC and I kept it a secret. The only person I told was the lady who made the cake balls. I kept it a secret for 2 days. Longest 2 days. Ever.
Nick and I are excited because Sam will finally have a buddy. Someone who can look up to him. We hope Sam is his baby brother's hero. Can't wait to see what Sam can teach him.
