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April 2016 Moms
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Fragile x syndrome

Kathi2143Kathi2143 member
in April 2016 Moms
So I'm really worrid my ob just called and said I'm a carrier for fragile x syndrome. I have to wait until sept 29th to talk to a high risk pregnancy genetic counselor and I was woundering if any other mommies out there are going through something simular or have any advice? Google is just scaring the heck outta me.
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  • Jules08Jules08 member
    Answer ✓
    If I remember correctly (and I could be wrong) females are generally less affected by fragile x, so that makes sense about your daughter.  Don't feel guilty, if you didn't know you were a carrier for it, what could have you done?  You won't love this baby any less and this baby will love you just the same.  Also, people who do have it can be all over the spectrum (mild to severe) so, again, talk to the genetic specialist and get real information.  :)
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Re: Fragile x syndrome

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  • Jules08Jules08 member
    Stay away from Google.  Direct your questions to the genetic counselor.  I have a friend who her sister is a carrier for Fragile X and they have 2 brothers with Fragile X (well one brother recently passed away).  They are a very loving and happy family.  They boys were pretty independent (family owns a farm).
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  • Kathi2143Kathi2143 member
    Thank you I'm a Google finatic so it's difficult not to go and look at the worst case senerio. I have one daughter and I guess they didn't test for it with her, I don't think she has the syndrome, but now that I know I
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  • Kathi2143Kathi2143 member
    I find myself over analyzing everything she does. I have already decided to keep and love this baby no matter what I just can't help but feeling like if he does have it it's my fault. And I feel so guilty and depressed
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  • Kathi2143Kathi2143 member
    Thank you my appointment in on Sept 29th it's just so hard waiting that long. Your posts have calmed me down some and I truely appreciate it.
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  • erind228erind228 member
    Fragile X will effect the X chromosome, so at most, your daughter would just be a carrier like yourself. (Unless your significant other is also a carrier) A male baby would have a fifty percent chance of inheriting your X chromosome that carries the fragile x gene. I'm just a biology teacher passing along tidbits of what I know about heredity. I'm no dr, but wanted to ease your fears about your daughter. Like others have said, stay away from Google.
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  • SallyNadaSallyNada member
    Been there, done that.  I knew I was a carrier but had a "whoops" at 41.  No matter what don't lose sight of the wonderful time of being pregnant, carrying a child.  I know it will be hard to eliminate all stress but don't let it ruin your pregnancy. A genetic counselor can be helpful - if they know fragile X.  Sadly, there are over 6,000 genetic conditions and many counselors are not well versed in fragile X. 

    With you being a carrier you have a 50/50 chance of passing it on with each pregnancy (depending on your CGG repeats you may be at a higher risk for the CGG repeats to expand to a full mutation if your numbers are high, low numbers the risk might be slight). You can have your child tested before birth.  I did an amnio, confirmed during the process that I was having a girl and did receive a diagnosis that she was a full mutation, had fragile X.  Females are very different than males because they do have two X chromosomes, even though the one X may produce no protein the other X does. 

    Your daughter may or may not be a pre-mutation carrier or have a full mutation. With females there is basically a 1/3 rule, 1/3 will have no symptoms, 1/3 may have learning disabilities, 1/3 may be as affected as their male counterparts.  Erin D, females can be full mutations, they can be severely affected. Sadly there is no test that will give you that answer. 

    As for my daughter, my whoops, she has no symptoms, in high school and in advanced placement classes for Math, Science, English and History. We never had to do any early intervention.  I have another daughter with a full mutation as well (I didn't have her diagnosis until she was ten) she has always struggled with math concepts (typical for females with fragile X) and social anxiety (very shy).  She is now attending community college, she is going to be a physical therapy assistant. 

    Fragile X syndrome, full mutations, is a spectrum disorder like autism, some function quite highly some don't. 

    There is a very active facebook group if you are looking for an online support group and there are many local active support groups depending on where you live.  https://www.facebook.com/groups/FXFiles/

    If you don't want to join the facebook group but would like to find something more local in your area let me know where you live and I'll try to provide you with a contact.  

    (((hugs)))


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  • Kathi2143Kathi2143 member
    Thank you all for all your comments and support. I've never posted on one of these sites before and it's good to know how many sweet supportive gals are on here. I am going to try and stay positive and have the church pray for my baby. I know God would not give me any more than I can handle so I have to have faith in that. And I will check out the Facebook support group. Thank you all again.
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  • dmangrum0406dmangrum0406 member
    I found out in Dec I'm a carrier as well, and found out last month, to my shock, that I'm pregnant. I totally understand all your worries momma. I'm part of a great carrier Facebook support group that you can message me about.
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