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  1. #1
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    Default Finally diagnosed, robertsonian translocation. Feeling hopeless

    I finally got a diagnosis as to why i have had two early mc.. i have robertsonian translocation 13:14.

    Even though i know what this means I am really struggling to cope.

    I fall pregnant very easily but due to this i have a high chance of miscarriage (about 70%)

    It scares me because i am pregnant as we speak.

    My odds are 2/6 of a healthy pregnancy.

    1: normal
    2: translocation
    3: extra x - deformed
    4: extra y - deformed
    5: minus x - deformed
    6: minus y - deformed

    Luckly most get miscarried before 6 weeks or dont even implant.

    However one of those deformed options could proceed to a pregnancy where the baby is still born and either way ill have to do all the extensive testing before 12 weeks to rule out deformity.

    Its just sh!t odds. Im aware i may need to go through ivf... and that when i do get my healthy pregnancy it will be stressful and hard.

    Is there anyone out there with experience or positive stories ?

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    Im going to be one of those women who at absolute best case .. will have many more miscarriages and live kids. At worst case.. i cant even think about it

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    Couldn't read and run, sorry to hear of your diagnosis. I really hope your belly bub is a healthy little miracle. I know couples who have successfully done IVF with genetic testing to only implant a perfectly healthy embryo. Stay positive, this isn't the end of the road for you xxx

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    Thank you for not reading and running bel2466

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    Hi,

    I don't have a genetic issue but I have had a lot of miscarriages and increased age now which increase my chances of anaploidy etc. It's a tough reality to face. Testing once pregnant is an option but potentially a really hard decision follows that. Fingers crossed for you that your current pregnancy is a healthy Bub.

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    Default Not correct

    Sorry but what you are saying isn't correct. I was diagnosed with this rbt 13/14 years ago and have four healthy kids all in a row. Also it isn't the parts of x and y chromosomes that are missing its extra or missing parts of 13/14. The way you have wrote this post for people who maybe looking for advice is terrifying. I think you need to see a proper genetic counsellor worth their salt. The way you have worded by saying deformed is totally wrong. Some babies born with patau syndrome are a complete joy to their families. I have had 3 miscarriages due to this but i'm not all woe is me... you will have a child eventually

  7. #7
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    TheGooch is offline Winner 2014 - Newbie of the Year
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    Quote Originally Posted by rachikat1 View Post
    I have had 3 miscarriages due to this but i'm not all woe is me... you will have a child eventually
    That's you.
    You don't actually get to tell this op what she should or shouldn't feel.
    You also don't know that she will have a child eventually. if this forum demonstrates anything, it's that nothing is certain in fertility or pregnancy.
    You told op she was terrifying people yet you're sitting here judging her for her genuine and individual reaction to what she has been told.

  8. The Following 5 Users Say Thank You to TheGooch For This Useful Post:

    Frankenmum  (02-05-2017),Mama Mirabelle  (02-05-2017),Mamasupial  (02-05-2017),smallpotatoes  (02-05-2017),zelda  (02-05-2017)

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    Quote Originally Posted by rachikat1 View Post
    Sorry but what you are saying isn't correct. I was diagnosed with this rbt 13/14 years ago and have four healthy kids all in a row. Also it isn't the parts of x and y chromosomes that are missing its extra or missing parts of 13/14. The way you have wrote this post for people who maybe looking for advice is terrifying. I think you need to see a proper genetic counsellor worth their salt. The way you have worded by saying deformed is totally wrong. Some babies born with patau syndrome are a complete joy to their families. I have had 3 miscarriages due to this but i'm not all woe is me... you will have a child eventually
    Wow. Way to be encouraging.

    She's JUST been diagnosed. I'm guessing within the last day or so (if not today). She's afraid and worried for the bub she is carrying and all you can do is point out what she may have misunderstood about her diagnosis. She IS looking for advice and you were in a good place to give it. Instead you decided to dress her down and try and make her feel bad. What a way to use your first post.

    Simil - If you do a search in Bubhub there is a thread where a couple of people have shared their stories. I have no idea if they are still members but it might help to have a read. Big hugs. I can only imagine how scary it must be to find out something like this.

  10. The Following 2 Users Say Thank You to zelda For This Useful Post:

    Mama Mirabelle  (02-05-2017),TheGooch  (02-05-2017)

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    @Simil I have been following your diary and you are such a strong woman for dealing with things the way you have been. I don't have any experience like yours; however, I know how much you want a child, I'd be seeking the top medical advice/help there is. I think you've mentioned not loving your ob at times. For me, my relationship/trust in my ob and his level of expertise is really important to me.

    I hope your pregnancy continues to progress well and you receive a great level of medical care xx

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    Default Finally diagnosed, robertsonian translocation. Feeling hopeless

    Double post
    Last edited by Simil; 02-05-2017 at 19:57.


 

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