Carrier Screening Came Back Positive

marionberry19

Well my carrier screening came back positive for Fragile X. Which conveniently is not the one that my partner and I both to have. So I get to have an appointment with UCSF to do some invasive testing. I am soooo not okay right now. 

ournextadventure

I'm so sorry. Sending all the good vibes your way. Hoping for better news and your appointment. 

pinkkillersheep

Oh no, I’m so sorry. When are you able to get in for testing?

marionberry19

@pinkkillersheep I am waiting to get a call from UCSF to schedule my appointment. 

marionberry19

I have a genetic counseling appointment with UCSF on Friday via zoom & we will go from there with scheduling. 

KFrob

I’m sorry you have to go through this.  Hoping you get good news. 

bww_0331

I am so sorry, that sounds so stressful.  I hope you can get more clear answers soon.

idreamofginny

I'm so sorry to hear of your news. Thinking of you all and hoping for some clarity soon.

shoarmie99

I’m so sorry! I hope you get good news and helpful guidance. This group is here if you need us!

pinkkillersheep

Thinking about you today @marionberry19

binxybaby

I'm sorry to hear that. Let us know if you need anything!

bww_0331

Thinking of you today @marionberry19

marionberry19

Okay update for everyone. The Genetic counseling appointment went amazing. I have an Intermediate result which means I cannot pass down the full mutation to baby. However, later down the line if the mutation continues to be passed down it could grow into one. She apologized that my doctor's office (& their office) told me I needed to schedule an amnio and that I tested positive when I’m all reality this is a negative result for all intents and purposes for this pregnancy. . So while I am furious I understand they just saw positive and did not realize there are degrees to the positive result. 

pinkkillersheep

@marionberry19 That’s great news, I’m so happy for you! Sorry for all the added stress and what it might mean in the future, but glad all is ok for right now. 

Tulips29

@marionberry19 that's awesome! So glad you finally have the answer and can breathe a sigh of relief. 

pajamstagrams

*lurking from May '22*

@marionberry19 ❤️❤️

I'm a gray zone/intermediate carrier as well. It's hella complicated as I'm sure you know, so I'm glad you were able to talk to a genetic counselor!! It's my experience that most people and doctors generally don't understand fragile x (I mean, I didn't lol) and for those like us in the gray zone, were not really a carrier, but we're not *not* a carrier, ya know? So I'll test my kiddos (or encourage them to test) to see if they got my "bad" X and what their repeats look like, when they start thinking about kids, so they can make their own decisions about their reproductive journey. 

hillies22

@marionberry19 so glad for you that there was more to the story and it's less scary than it sounded at first. 

romeoandjuliet146

@marionberry19 I'm glad you got good news. Sorry you had to go through all that stress and worry.

idreamofginny

@marionberry19 so happy to hear your update! And how cool that @pajamstagrams reached out who is having a baby a month earlier with the same condition?! 

marionberry19

@pajamstagrams I wasn’t given genetic testing with my son (this is my second baby) so it came as quite a shock. However, I’m glad to know now so I can inform my kids about it and not have them get freaked out for nothing.