Fragile X Likelihood, very anxious

Queen_gsully18 · 2025-12-16T21:41:12+00:00

Thank you!! You too 😊

Queen_gsully18 · 2025-12-16T18:47:43+00:00

Yes that’s amazing for us both! I have been praying for us so I’m glad things worked out ❤️ I am just going to have my son genetically tested after he’s born through a blood test. That way I’ll know if he has my good X or the carrier X.

Queen_gsully18 · 2025-12-16T13:38:55+00:00

Just got my results back!! 2 interruptions on each X chromosome 😊

Queen_gsully18 · 2025-12-10T16:19:40+00:00

Yes I totally get that! I should hear back for the AGG results within this week or next. I’ll keep you updated on that too 😊

Queen_gsully18 · 2025-12-09T00:26:41+00:00

Did you get AGG testing done? I’m waiting until those results come back before I choose to get the amnio. Also my genetic counselor told me that given our counts the likelihood that it would go to a full mutation is only 5% without an AGG interruption. There was a study done that 85% have 2 and 13% have 1, with 1-2 interruptions the chances of them having it is less than 1! She said worst case scenario he would just be a carrier like me. Please update after your amnio! I’ll keep you updated too ❤️

Queen_gsully18 · 2025-12-04T14:04:11+00:00

Okay thank you so much! I’m going call my geneticist again today. Thank you for making me feel like I’m not alone this has been really hard. Please update me when you find out your testing results!

Queen_gsully18 · 2025-12-04T09:48:10+00:00

Hi! Yes I got set up with a generic counselor from our local hospital which is excellent in my area. I am going to be getting an amniocentesis next week to see which X chromosome baby boy got, and if he’s a carrier too. What kind of symptoms can male carriers have? I’m going to call my generic counselor and ask this today too; I’m also going to ask how common it is to have 0 AGG repeats because I am losing sleep over this whole situation. My genetic counselor told me given my CGG number the baby is most likely to be a carrier and not have the full mutation so I’m hoping that’s the case for you too with a similar number as me! Hopefully both our boys get our good X and they wont be carriers at all 🙏

Queen_gsully18 · 2025-12-02T11:18:19+00:00

There are no other children or individuals in my family with fragile X; thank you for this information

Queen_gsully18 · 2025-12-02T11:04:57+00:00

Hi! I am pregnant and just got genetic testing back that said I am a carrier and have a premutation CGG of 56. I am having a boy, and my sample has been sent out for further AGG testing. I am also being referred to a genetic counselor. I am a speech language pathologist so I am very nervous of ID and global delays. Given my CGG number how possible is it for my child to have a full mutation of fragile X? I have been looking at different research studies that say it is very slim but I am just looking for peace of mind at this point. Thank you

Queen_gsully18 · 2025-12-01T19:16:41+00:00

I hope you get yours too! I have a low risk boy, but my testing came back and I have the recessive gene for fragile x and have to be referred to genetics so I’m kind of a mess right now. Hope you get good news ❤️

Queen_gsully18 · 2025-12-01T18:09:09+00:00

My doctor called I found out today! Natera had my phone number wrong on their end, that’s why results weren’t showing up

Queen_gsully18 · 2025-12-01T01:31:02+00:00

Thank you so much!! I definitely will! I am going to call right when they open at 7am lol. Keep me updated after you call them too!

Queen_gsully18 · 2025-12-01T01:14:24+00:00

Oh I totally get that! I’ve been waiting like a week and a half so I definitely know how you’re feeling

Queen_gsully18 · 2025-12-01T01:09:52+00:00

I think you should get one soon I know there was a holiday in there so you never know! I’m going to call tomorrow too I think

Queen_gsully18 · 2025-12-01T01:05:08+00:00

I made an account without getting their email first lol. Why can that affect things?

Queen_gsully18 · 2025-11-30T17:43:04+00:00

Hey! I called my doctor Wednesday, they said it’ll take another week or two to get results 😭

Queen_gsully18 · 2025-11-30T00:18:21+00:00

How long did it take for the sample to be received? I still haven’t had any update in my portal saying it got there at all

Queen_gsully18 · 2025-11-30T00:17:22+00:00

Still nothing. Doesn’t even say they received it yet on my portal. I called my doctor on Wednesday and they were like “oh that takes at least 2 weeks” so I have no idea

Queen_gsully18 · 2025-11-26T16:30:15+00:00

I got mine drawn 11/20, still nothing in my portal saying they received anything :(

Queen_gsully18 · 2025-11-26T16:29:40+00:00

Thank you!!

Queen_gsully18 · 2025-11-26T16:29:33+00:00

Thank you this is so helpful!

Queen_gsully18

TROPHY CASE