I remember the day as if it was yesterday...
I was at work when I received a call from my first OB doctor saying my results from my genetic testing came back and I am a carrier of the fragile X syndrome. She said it could effect the baby and she was referring me to a high risk doctor to look into it further.
I was in shock! I remember saying, Ok and asking very little questions. I guess I was so in shock I just didn’t know what to say. I called my mom (an OB nurse) crying and for some clarification on what fragile x is. I think my mom gave me a list of questions to call the doctor back and ask. So I did, but I still felt uneasy and confused.
The whole first pregnancy thing was new to me. I didn’t even remember much of the whole genetic testing deal or what I even agreed to, let alone what it tested.
My doctor referred me to a high risk doctor so I requested to be referred to Winnie Palmer in Orlando. Joey and I met with their genetic specialist who was AMAZING and had SO much knowledge. He made Joey and I feel much better, answered all of our questions, and explained to us that we had nothing to be worried about.
If I can remember correctly, based on my results there is a 3% percent chance that Ava would also be a carrier of Fragile X and every generation that number could become greater. Basically we didn’t need to worry.
We went back to see my OB doctor and told her about our visit. She didn’t agree with the genetic specialist (who studies and specializes in genetics) and insisted on a second opinion and further testing. No matter what the results were going to be we knew we wouldn’t terminate the pregnancy. We didn’t see the point in doing further testing and creating a risk of having a miscarriage. We declined the second opinion and testing. I immediately noticed from her demeanor that she was unhappy about our decision.
Before the visit was over, I told her that I didn’t like the uncomfortable feeling I had during our visit and her reactions towards our decisions. I explained that I noticed a quick change in her demeanor after we declined her suggestions. She stated that she was going to make sure to note in my charts that I was a carrier of Fragile X and declined further testing. She threatened that pediatricians at the hospital would be concerned and have several questions once they saw my charts after having Ava. This had my blood boiling! I was so mad, upset, and just furious. The nerve of this woman! This was our first baby and our first experience with an OB doctor and it was horrible. She made me feel like we had to bring a perfect baby into this world and if not, then something was wrong with us.
A few days later I decided to switch doctors and went to a whole new office. I’m happy to say that I received a letter a few months ago stating my first doctor is no longer practicing and at that office.
My new doctor is the same one I have for this pregnancy and this time around our experience has been much better! After seeing the Fragile X in my records he wanted me to have an anatomy scan done at the high risk doctor. I asked to return back to Winnie. I was ok with this. Their machines are awesome and we were able to find out Ava was a girl early on. The high risk doctor also reassured me once again that we had nothing to worry about.
Now we’re in round two and we're headed back to Winnie for another anatomy scan. I’m not worried about Fragile X and instead I’m excited to see baby T. Hopefully we will find out if it’s a boy or girl and I can ask some questions about trying to avoid preeclampsia again.