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  1. #681
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    Quote Originally Posted by HollyGolightly81 View Post
    Cool, just thought I remembered the geneticist explaining it to us as that we were either both carriers or it happened randomly. So if we were both carriers our chances of it happening again to our next baby went up a certain percentage and if it was randomly then our risk stayed the same as with anybody else. Not up for getting our notes out to read her exact words. My point was that it's not really anybody's 'fault.' 😊
    Yep genes can mutate randomly when making an egg or sperm to so things can come out of nowhere. Apparently this is often the case with albinoism.

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    Default SH!T my MIL says

    Quote Originally Posted by AdornedWithCats View Post
    It depends on the genetic disease. Ie. Huntington's only requires the presence of one mutated gene, not two, as the condition is dominant.
    I think the difference here is that I'm talking about genetic syndromes, not just conditions or traits. I'm definitely not somebody with tons of experience though, I only know what the geneticists told us when going over our daughter's autopsy results.
    Last edited by HollyGolightly81; 27-09-2015 at 20:16.

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    Quote Originally Posted by HollyGolightly81 View Post
    I think the difference here is that I'm talking about genetic syndromes, not just conditions.
    I don't really see the distinction. Not when you're talking about hereditary genetic diseases. They can be recessive or dominant or all natures of 'inbetween'. Huntington's is a terrible disease.

    Eta. BUT in context of marrying a close relative, yes, it would be the recessive ones you are particularly worried about.

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    Quote Originally Posted by AdornedWithCats View Post
    I don't really see the distinction. Not when you're talking about hereditary genetic diseases. They can be recessive or dominant or all natures of 'inbetween'. Huntington's is a terrible disease.

    Eta. BUT in context of marrying a close relative, yes, it would be the recessive ones you are particularly worried about.
    But I think there is a distinction when it comes to syndromes? Tam would know much more that me.

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    Quote Originally Posted by HollyGolightly81 View Post
    I think the difference here is that I'm talking about genetic syndromes, not just conditions or traits.
    Down syndrome is a genetic syndrome. Caused by a third copy of chromosome. (I think?)
    But neither parent would be a carrier etc. Unlike my daughter's syndrome which is Smith-lemli-optiz syndrome.
    The word 'syndrome' isn't key in it being a carrier type condition.
    Syndrome is just a word that brings together a myriad of symptoms and calls it something. If that makes sense.
    I'm probably not doing a good job of explaining it.

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    Quote Originally Posted by HollyGolightly81 View Post
    But I think there is a distinction when it comes to syndromes? Tam would know much more that me.
    We must be talking about different things?

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    Marfen syndrome is dominant. I don't think dominance matters for a genetic disease to be considered a syndrome.

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    Default SH!T my MIL says

    Here's a link discussing the difference between disease and syndrome. http://www.protocol-online.org/biolo...sts/14819.html

    I get that some things can be passed down from a parent. I'm not trying to have a debate ladies, I just repeated what the geneticist told us when discussing a possible genetic syndrome that is possibly the reason our daughter died and what it meant for us having another baby. I have a sister with a disorder so I know what it's like to feel like I was the parent whose 'fault' it was. It was explained to us that when it came to genetic syndromes we were either both carriers or it was a random occurrence. Apologies if that's not always the case.
    Last edited by HollyGolightly81; 27-09-2015 at 20:47.

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    I'm 5 weeks pregnant and we have told my 2 year old DD.

    My mil found out about the pregnancy and when DD said

    "I'm a big sister"

    She said

    "No you might be a big sister, you aren't a big sister".

    She also told me not to get attached to the pregnancy and really i shouldn't even be putting any thought into it because it might end badly.

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    Quote Originally Posted by HollyGolightly81 View Post
    Here's a link discussing the difference between disease and syndrome. http://www.protocol-online.org/biolo...sts/14819.html

    I get that some things can be passed down from a parent. I'm not trying to have a debate ladies, I just repeated what the geneticist told us when discussing a possible genetic syndrome that is possibly the reason our daughter died and what it meant for us having another baby. I have a sister with a disorder so I know what it's like to feel like I was the parent whose 'fault' it was. It was explained to us that when it came to genetic syndromes we were either both carriers or it was a random occurrence. Apologies if that's not always the case.
    It's likely in your case it's either recessive (so both carriers) or a random occurance. But that's not always the case. Sorry to hear your daughter died, I did not know that. xx I can't imagine what it's like to feel at "fault".


 

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