In June of 2015, we found out we were pregnant with our first child. This was a time of excitement and celebration! We had talked about wanting to start a family as soon as we got married, so our dreams were coming true quickly!
Around our 12-14 week checkup, we were told they could perform genetic testing, which would check for things like Downs, any of the Trisomies, etc. and they would also be able to tell us the gender based off of a blood draw. As I am adopted and the insurance company was covering the tests, we agreed to do them; I mean learning the gender earlier than you normally would was incredible and we didn’t really have anything to be worried about with the genetic testing…or so we thought.
A couple weeks passed and we finally got a phone call from the doctor’s office. They had our results. We found out we were expecting a boy! Now, at this point I actually cried, because I was 100% positive we were having a girl. I know there are a lot of mom’s out there that can relate. I think we all have built ourselves up believing we were pregnant with a certain gender only to be told you were wrong LOL! I also blame part of the tears on the hormones! Next, they had our genetics test results…
“You are a carrier for Fragile X Syndrome. You have a premutation with 78 repeats.”
“I’m what? Repeats of what? What is Fragile X Syndrome? Does this impact my baby??”
“At this time, we do not know if your baby is at risk, but we could perform an amniocentesis or you could wait until the baby is delivered and he could be tested.” “We also will get you setup with an appointment with a genetic counselor to talk through all of this with you.”
My head was spinning at this point. I was completely healthy. How on earth could I be a carrier of Fragile X? This was only 4 years ago, but at that time, if you Googled Fragile X Syndrome, there was not a lot of information to go off of and everything you read made you think the worst possible outcome. As this was our first child, we decided we did not want them to perform an amniocentesis, we didn’t want to risk anything happening to our baby. No matter the outcome, we would love that boy and raise him the best way we could.
Needless to say, the next 24 weeks, give or take, were stressful, wondering if our son would end up with Fragile X or be a typically developing child. The only people we told were my parents and my brother and sister-in-law (they are doctors). We spent a lot of time reading up on it and praying that everything would turn out okay.
Our Fragile Xperience 