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December 2010 Moms
kj07
member
fragile x gray area (maybe paging bosha?)
kj07
member
This is going to be a post and run, but hopefully I'll be back later.
I called my RE's office this morning to schedule the initial ultrasound and blood work so we can start my injectables for fertility treatments for this cycle.
They didn't call me back until 3:30 (grr), and then they said we can't start until I meet with a genetic counselor because I'm in the gray area for fragile x.
First off, I'm pissed because I did my blood work 3 weeks ago - got a call back that everything was fine. And now I'm being told I need to meet with a genetic counselor before Friday before they'll allow me to proceed with treatment.
But all that aside - anyone have any experience with being in the gray area for fragile x? I think maybe bosha got similar information on her most recent pregnancy... or was that something else?
BFP #1 4/14/10. Big B born 12/28/10.
BFP #2 5/27/12. EDD 2/1/13. m/c and D&C 6/21/12.
BFP #2 5/27/12. EDD 2/1/13. m/c and D&C 6/21/12.
This discussion has been closed.
Re: fragile x gray area (maybe paging bosha?)
Yes, you remember correctly - I am a carrier of the Fragile X premutation, which is a little bit worse, for lack of a better word, than being in the gray area. There is a numeric scale they go by where if you have a little bit of variation, then it's the gray area. Then the next range of numbers is a premutation, and then the last set of numbers is the full mutation, where the person does have Fragile X syndrome.
Like you, I got the news of it in a shitty way, too - I go no call back about my bloodwork, which for my OB office, means everything's fine. And then at my next monthly check up, the OB was like, "yeah, so about your Fragile X..", assuming I had already been called about it. Apparently there was a note in my file that another OB had called me about it, but he hadn't. So the news was definitely surprising.
When we met with the genetic counselor, they went over our full family history, and gave us percentages of risks based on what my actual premutation number was. Based on those percentages, we decided to have an amnio done. Those results took 5 weeks if I remember correctly, to come back saying the baby was completely in the clear - no Fragile X, and also a non carrier of the premutation.
So for you, I think it's just about informing you of all the possible risks before you get pg. Kind of like fully knowing what you're getting into. Being in the gray area is a pretty low risk, so that's definitely good news. If you were to get pg with a girl, then the risks are virtually non-existent. If you were to carry a boy, then there are chances you pass your bad X chromosome to him & that's where the risk would be.
As far as risks to yourself, you could possibly go through very early menopause. That's as much I remember about how the woman is affected directly.
It's really scary to find all this out. The test for Fragile X is now becoming standard along with other genetic testing, like for Cystic Fibrosis. So, I think it's becoming more common for women to be finding out about Fragile X. I think 1 out of 200 women are carriers? I was of course a carrier when I was pg with DS, but just didn't know it b/c I hadn't been tested for it during my first pg. (Ignorance was bliss!)
For us, meeting with the counselor was really helpful. Everything was explained really well. Not knowing WTF it is you're dealing with is the worst part. So, after having a clearer understanding, we felt more at ease.
I think finding out before you get pg is better than finding out when you are already pg, so hopefully you'll not be as stressed about it when you do get pg. GL to you in both your meeting with the counselor & your fertility treatments!
BFP #2 5/27/12. EDD 2/1/13. m/c and D&C 6/21/12.
Thanks.
I was able to get an appointment with the counselor for tomorrow morning. Now I'm just waiting to hear if the RE will let me make a placeholder appointment with her office for the afternoon. If the RE says yes then we should be able to proceed this cycle. If not, then we wait.
bosha - one more question, if you don't mind sharing. It's great that your DD isn't a carrier and you were able to find that out with the amnio. Did you talk at all about doing any testing with your DS?
BFP #2 5/27/12. EDD 2/1/13. m/c and D&C 6/21/12.
Yes, we did talk to the counselor briefly about testing DS. We're not sure if we want to test him as a child though, or let him decide to get the testing done when he's older & decides to have children of his own.
I am forgetting the exact details of it now, but the "bad" X chromosome is typically passed down from the father. So, I most likely became a carrier from my dad. And then if my DS got my bad X chromosome, then of course he can pass it to his children, so he may want to know. Also, if he does have my bad X, then he can be at risk for ADHD, ataxia in old age, and some other things. I'm probably more confusing than helpful on these details b/c it was so confusing in the first place & I am not remembering it all exactly. Sorry!
Thanks everyone. We were able to meet with the counselor Friday morning and still get in to see the RE at noon. Of all the mutations/variations for fragile x that are out there, I'm carrying one of the less severe versions. My kids are not at risk of getting fragile x, but if they inherit my bad x gene then their kids are.
BFP #2 5/27/12. EDD 2/1/13. m/c and D&C 6/21/12.
Thanks for updating - it sounds like you got the best news you could have gotten in the situation. Glad you were still able to see your RE, too!