It’s just so frustrating.
Sterling and I wouldn’t trade Izzy for the world. But we could have prepared if we had known. We could have had her treated from birth instead of having to witness our infant having seizures. And in hindsight, thank GOD she did have those seizures, because without them, we would have been blind to her calcium deficiency which could have been fatal.
I made the personal choice not to have invasive genetic testing done during my pregnancy, but when the echogenic focus was found on our baby’s heart during the second trimester, I believe that 22q could have been detected. Sterling and I went to the maternal fetal medicine specialist (twice) for in-depth ultrasounds, we met with a genetic counselor, we asked questions, we answered questions… why was everything ruled no concern?
Even when I went back to my OB (who I love by the way) for my post partum appointment 6 weeks after Izzy’s birth, I told her that Izzy was born with DiGeorge, a chromosome disorder, and I reminded her of the echogenic focus. I said there HAS to be a connection there. The words she used when explaining the bright spot on Izzy’s heart initially were ‘calcium pocket’ and ‘hypocalcemia’ and ‘Down syndrome’. Well, Izzy may not have been born with Down’s, but she WAS born with the next most common genetic disorder, and she WAS diagnosed with hypocalcemia. I understand that an echogenic focus *can* be found in a small percentage of normal pregnancies… but clearly they are found in abnormal pregnancies, as well, and it’s not always Down’s or nothing (as I was told…).
To this day, the doctors all still say that the echogenic focus had and has no relation to 22q11, but as Izzy’s mom, I find that very hard to believe. I think that the focus can be telling of any chromosome concern, but they were only looking for one…
If I could do the research… If I could prove the connection… I know I’m not wrong.