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Disease-Related Advice Needed

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This topic contains 22 replies, has 4 voices, and was last updated by avatar Sarah 4 months ago.

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  • #696736 Reply
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    Sarah

    My child has a rare chromosomal disorder (autosomal recessive). Two bad copies of the gene are needed to have the disease. My sister is a carrier too, just found out. She is also pregnant.

    Sister’s husband is an emotionally abusive jerk. He will also pass on all information, even stuff he promised not to pass on, to others (especially his mother). He has proven himself to be untrustworthy. I do not want him to know my child’s diagnosis, otherwise he will spread this information within our small ethnic community and make it difficult for her in the future.

    This gene mutation is SO rare that he very likely does not have it.

    How do we get him tested without telling him the diagnosis? He doesn’t have a lot of medical knowledge so anything goes…If he is a carrier too, they’ll get the baby tested. If baby has 2 bad copies, they will consider an abortion.

    Thanks.

    #696740 Reply
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    Ron

    The reason for him to be tested is that your sister carries the abnormal gene. If he also does, then their children have a 25% chance of a double copy. He might want to know that. I don’t see what your daughter’s diagnosis has to do with this, as far as sister’s husband being tested or not. The big point for you is that you and your husband both should be tested, since any other children have that same 25% chance.

    #696741 Reply
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    Fyodor

    Can’t you just tell him that your sister got tested, found out she was a carrier, and needs him to be tested?

    #696744 Reply
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    Sarah

    That’s what I’m leaning towards– just tell him that she got tested routinely and now he needs to get tested too.

    I’m afraid somewhere in the process, he will find out about my child. If they go to a genetic counselor, they will make a family tree, which means he will find out my daughter’s status.

    #696748 Reply

    If they make a family tree at a genetic counselor it may include you but why would it include your child or your husband?

    For what it’s worth if your community is this insular it seems like a strong possibility that your daughter’s condition will become known eventually. Try not to live in fear of that. The world is changing, as she gets older your community is bounty to grow and change. If you don’t believe it will then now is an excellent time to begin forging changes yourself and/or making connections outcome your ethnic community as much as you’re able.

    #696757 Reply
    Skyblossom
    Skyblossom
    Participant

    I think it will be hard to hide a genetic disease in a small insular community. That said, even though it will be obvious something is wrong, you don’t need to announce what the problem is. You do need to prepare for the inevitable questions.

    The family tree doesn’t need to include your daughter or yourself. If they don’t know you’ve been tested why would they put your daughter on the tree?

    In a small, insular community there are probably a lot of people carrying the same gene so if your BIL came from this same community he definitely needs to be tested. If he tests positive I would assume he will tell his family because they will all want to get tested before having children. If they reach that point it will become obvious what condition your child has and they may urge you to get her tested because they won’t realize you already did.

    #696758 Reply
    Skyblossom
    Skyblossom
    Participant

    When they make a family tree they can’t know your daughter’s status unless someone, like your sister, tells them that she has the condition. Your doctor can’t share that information without your permission and you aren’t giving it.

    #696760 Reply
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    Northern Star

    Your daughter shouldn’t even come up in the conversation. Your sister’s husband will likely only be concerned about whether HIS baby has a chance of getting the disorder—telling him the partial truth, which is that your sister got tested and is a carrier, should be enough. Pregnant women get tested for everything under the sun nowadays, so it’s very plausible that something would be discovered in routine bloodwork. And your sister should explain the situation to her doctor in private so the doctor knows any talk of the rest of your family is strictly off-limits.

    #696774 Reply
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    ele4phant

    So, I certainly understand that you are wary of telling your BIL your daughter’s condition, given what an a-hole he sounds like and I think the other posters have given you great advice on how to talk to him about getting tested without necessarily bringing your daughter into it at this point.

    However, it sounds like at a certain point, your daughter’s condition is severe enough that it’s just going to be apparent something is going on, yes?

    Someday in the not too distant future, people in your judgmental, insular community are going to cotton on to the fact that she’s not developing normally, right?

    Maybe I’m mistaken and that her condition will not be apparent to others (but if that was the case – why would your sister consider terminating if her child has the chance of having a normal functional life?), but if its going to be observable, you may want to start preparing for how to deal with nosy people in your community starting to ask questions.

    You don’t owe anyone anything of course, and your daughter deserves love and respect no matter what, but if you know your community is going to be noisy and judgmental, you may want to start strategizing now about what you’re going to do and say as she gets older, and maybe ultimately you want to start telling people and educating them so you have control over the conversational frame.

    #696776 Reply
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    RedRoverRedRover

    To those asking about the family tree, it’s true you don’t HAVE to disclose everyone’s medical condition, but if you don’t then the genetic counsellor’s recommendations will be based on faulty information. It may change their advice on whether or not they’d recommend having an amnio done, for example, because an amnio does carry with it an increased risk of miscarriage. So typically you only want to do it if you really have to.

    That being said, if your sister is 100% going to do the amnio anyway if her husband’s a carrier, then you could just ask her not to mention it on the family tree. The counsellor’s advice will be wrong, but if her mind is made up as to the amnio, then that doesn’t really matter.

    #696780 Reply
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    Ron

    RRRR —
    No, it doesn’t work that way. A family tree was important in the days before the genetic basis was fully understood and testable, or if genetic test data on one parent is not available. There is no reason for a family tree including LW and her daughter. This all comes down to the BIL. His wife, the LW’s sister has been tested and carries one copy of the abnormal gene. If the BIL carries one abnormal copy, then his child with LW’s sister has a 25% chance of getting the genetic disease, a 50% chance of being an unafflicted carrier, and a 25% chance of not even being a carrier. If the husband’s two copies of the gene are both normal, then no child he fathers can inherit the disease and every child he has with LW’s sister has a 50% chance of being the carrier. If BIL refuses to be tested, then a family tree of his family will shed some guidance, but cannot be definitive, because even if both of his parents carry one abnormal copy of the disease, he might not be a carrier.

    Even if BIL isn’t tested, a family tree on LW’s side, including either LW or LW’s daughter provides not additional useful information beyond the fact that her sister carries one abnormal copy of the gene.

    #696781 Reply
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    RedRoverRedRover

    Well they did one on me last year when I was pregnant and had a high risk of issues. I guess it depends on the specific disease/abnormality though, how useful a family tree is. But they definitely still use them. I know they’re not definitive – they’re used to help decide the necessity for definitive invasive tests, such as an amnio, which can carry risks. Obviously if the husband doesn’t have it they won’t bother. But if the husband has it, then it’s certainly possible that having a cousin who is positive increases the risks of this baby being positive. Like I said, it depends on the disease. Certain cancers? Family history definitely matters. This disease? We have no idea, because we have so little info about what it is. But we don’t know enough from what the LW said to say that a family tree will shed no light on the situation at all and that the sister should definitely skip it.

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