Special Needs

Just got tested!

Well I did it today! Unexpectedly which is probably a good thing! I got my blood test that will determine if I am a carrier for fragile x syndrome. They didn't know how long it would take to get the results, but I have read it could take up to 23 weeks..wine may be my best friend until then!

Re: Just got tested!

  • We test for fragile X at my work and it takes only 4 weeks. Perhaps they are doing some additional testing (though I don't know any genetic test that takes more than a month to run).

    Good luck! 

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  • Maybe it's supposed to be 2 to 3 weeks? The hyphen doesn't work on mobile!

    Good luck!
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  • Oops! 2 to 3 weeks! I didn't realize hyphens don't work on phones:

    Thanks ladies!
  • Glad to hear the wait won't be that long!  See, now you have something to be relieved about.  ;-P

    Best of luck to you as you await the results.

  • Sir I has FX, however he is adopted so I'm not a carrier. We were told his test would be back in 2-3 weeks, however it took 7 weeks b/c it was during the holidays: Thanksgiving & Christmas. That was unusually long. so don't worry that yours will be that long. Wine was definately my friend, and when it came back positive, excersise and zoloft (my happy pill :)) are now my coping strategies and best friends.

     Please let us know your results, or pm me if you want.

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  • Awesome! Way to go! My results took 3 weeks, my son's took 3 weeks, my aunt's took 2 weeks, my dad's took 4 weeks, and my cousin's were back in 10 DAYS. Maybe you'll get lucky and have results very soon!
    dx: Fragile X Syndrome
  • I'm 14 weeks and was tested and it came back indeterminate. I got married today and I couldn't even focus. My doctor called me with the results this Friday at 4:30 so by the time I had questions it was too late to call. I've read that if your results came back indeterminate that means the baby is not at risk but that future generations could be?!? I'm leaving on my honeymoon and I would REALLY appreciate any clarification or information!
  • imagecandiam123:
    I'm 14 weeks and was tested and it came back indeterminate. I got married today and I couldn't even focus. My doctor called me with the results this Friday at 4:30 so by the time I had questions it was too late to call. I've read that if your results came back indeterminate that means the baby is not at risk but that future generations could be?!? I'm leaving on my honeymoon and I would REALLY appreciate any clarification or information!

    I don't know what you mean by 'indeterminate'. Results can be classified into one of 4 categories: normal (up to 44 repeats), grey zone (45 to 54 repeats), premutation, also known as carrier (55 to 200 repeats), and full mutation (above 200 repeats). Did your doctor tell you your repeat numbers? Remember, since you are a female, you have 2 X chromosomes. So, your results will have 2 repeat numbers.

    dx: Fragile X Syndrome
  • imageFlgBride:

    imagecandiam123:
    I'm 14 weeks and was tested and it came back indeterminate. I got married today and I couldn't even focus. My doctor called me with the results this Friday at 4:30 so by the time I had questions it was too late to call. I've read that if your results came back indeterminate that means the baby is not at risk but that future generations could be?!? I'm leaving on my honeymoon and I would REALLY appreciate any clarification or information!

    I don't know what you mean by 'indeterminate'. Results can be classified into one of 4 categories: normal (up to 44 repeats), grey zone (45 to 54 repeats), premutation, also known as carrier (55 to 200 repeats), and full mutation (above 200 repeats). Did your doctor tell you your repeat numbers? Remember, since you are a female, you have 2 X chromosomes. So, your results will have 2 repeat numbers.



    She also used the term gray zone, I didn't know to ask for my repeat numbers until after I researched a little. Do you have any info to share on the gray zone? Thank you so much for responding!!!
  • Oh great..all I want to hear from my doctor is yes you're a carrier or no you aren't! Preferably the no you aren't! Since I really want to TTC now! I'm just glad I got tested before I got pregnant so there are other options! I hope you get some clarification soon! Enjoy your honeymoon!!

  • Yep, grey zone means that you carry an unstable repeat in the FMR1 gene on one of your X chromosomes, but you won't have full mutation children. You can have children that are carriers and grandchildren that are full mutation should you pass on your affected X chromosome. My aunt is grey zone, and although we are still awaiting results it seems as though her grandson might be a mildly affected male. If it turns out that your baby is a carrier, you might strongly consider connecting yourself with the fragile X community. There are potential health risks for carriers during adulthood, and although VERY rare, there are carriers that present as full mutation. It would be good to familiarize yourself with what to look for as your child grows. Early intervention is key should you encounter issues. Let me know if I can be of further assistance.

    dx: Fragile X Syndrome
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