GENETIC TESTING RESULTS AFTER MISCARRIAGE | TTC Rainbow Baby #1



my husband every buddy it's your girl ty welcome back to my channel if you're new here welcome to my life and my journey in trying to conceive rainbow baby number Oh No and if you're returning thank you so much for returning and supporting my journey you guys you have shown so much love and it is so encouraging you may be asking me why you're getting this random video so you're getting this video because we finally got our genetic test results back and I was not gonna record our conversation with our genetic counselor but I figured why not like I'm sharing everything else that is her so let's begin I'm Rebekah how are you I'll have you start with an overview and then we'll see that means that for most of our genes we have two copies of that gene one copy we've inherited from our mother the other copy we've inherited from her father I want a person in the carrier that means one of the two copies in it working the way it's supposed to Colton in general carriers are very common so that's the most common result we get when we do won't likely to be a carrier than to not be in here all right for most of these Dickens because a person has a working copy of a particular gene they don't make symptoms of occasion oh okay um there are a couple of genes but that's not true but the ones we're gonna talk about today generally carriers don't have anything with these conditions a person would have the disease exposed copies of their genes wasn't working correctly the way that occurs that they've inherited a nonworking copy from each parent okay okay so bottom line when we look at your results everything's great because well you were bound to be a carrier for our conditions your partner tested negatives and then the other condition we're going to talk about his results eventually when we call it certain but because you tested negative that risk to a child stays low alright nice-looking okay so when we did this testing again we crazy for a lot of genes hue-man came back as a carrier for big long word for this HP beta chain related hemoglobin company this gene is a gene that makes our hemoglobin so the structure and our blood that carries our oxygen and there's lots of different genetic changes that can happen in this gene there this is a gene that can cause a condition called beta thalassemia other changes in this gene called sickle cell disease and the particular change that you carry in it causes what's called hemoglobin C disease which again you're not going to have any symptoms of that but that's what the particular change that you carry is associated with because mr. Brian screams negative for changes in machine what that did the testing we do picks up greater than 99% of changes in this gene and so that reduced his chance to be a carrier to about one and a thousand jam for that it's got a 1 in 10 chance before we did testing oh wow is it because he's african-american much more common gene in for people of african-american ancestry okay so on your report under where it says positive carrier and my big be busy and related hemoglobinopathies we say reproductive risk one in 3800 mmm-hmm low number stars were concerned that means he tested negative reduced the chances of carrier as much as we possibly can and that is the risk that we missed something and a child inherited to non-working copies of the chief that's not a number that were concerned with or that we recommend Julia Manor pregnancy any other questions about that condition before I move on to the next one giving blood I am oh I'm on negative but since I have this I'm a carrier what does that mean for me when I want to donate okay to risk that a child could have this diseases one in fifty three thousand which is really really tiny so this is a gene called smn1 most of us we have two copies of this genes again one inherited from each parent so those genes are carried on these structures called chromosomes so you have a chromosome with this gene and heritage my mom the chromosome with this gene heritage from our gap mm-hmm when we do this testing the first step is to see how many copies of this change of the person have because most carriers just have one copy of the gene and so for your results miss Bryant you have two copies of the gene and well actually both of you have two copies of the gene that makes you look like you're not a carrier because then we know that there are some people who inherited both copies of their genes the same chromosome so they got two copies from one parent and no copies from the other parent when you make some what's called seismic carrier it almost like they should be a carrier but they are because when their body makes egg cells or sperm cells those eggs are eggs or sperm cells either get two copies of the gene or no copies of the gene Wow so we do this additional task and that's what the negative for the G dot 27 134 in PG snips is looking at it is a kind of red flag or warning sign that a person's two copies named you doubled up in May doesn't mean it's a guarantee so for you ma'am we looked at how many copies of the gene and then we went we didn't have it so that means your chance to be a carrier great well okay partner he's got two copies of the gene but he was positive to that stick and that just means that his chance to be a carrier isn't as low as we'd like it to be so before we did testing individuals of African American ancestry about one in every 66 people at the carrier yeah after testing through prisoner he's got a one in 34 chance to be a carrier it's still not saying he's a carrier because he's got a 33 out of 34 camps but he's not a carrier right if we had just tested him we'd be having a discussion about testing you because this is a respected disease you don't have to be positive as a carrier for there'd be risk and did you test is negative that is what drives that reproductive rate back to that one and 53 now remember okay Wow all right well sounds like we got pretty good results you all right do you have any more questions we're good on the questions thank you so much yeah no worries I will put this information in a note that I will upload to your account all right we really appreciate this call no problem thank you hungry K all right so everyone essentially the wrap is we are good yes I may have him 11 see some something sickle cell trait but I don't have the disease my child only has that baby's gonna have a 50% chance of just seeing a carrier tray maybe we don't even know he has only like a 1 in 33 chance that he's a carrier for spinal muscular atrophy so essentially we're good some of these diseases that they tested us for rule-out why I may have had those two miscarriages so this just brings a little bit of ease over me and maybe we're gonna do some additional testing on my hormones but we shall see I have some exciting updates coming for you guys I'm so happy it doesn't want to be in the camera because his hair is not cut but what is it away like something anyway I am married you guys you guys will meet him this weekend he just doesn't know what we're doing it so I love you guys thank you so much give this video a thumbs up I am so glad you guys are supporting me on my journey how great was

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