Genetics and family drama ...,

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lizzib45's picture
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Genetics and family drama ...,

Those things don't mix. So background is my sister has a slight chromosome abnormality. It's not anything major - she is normal, married and has a 3 year old. Our whole family didn't even know until she got pregnant with an angel baby and she had an amnio done. So literally she found out when she was 31. When she got preg with my nephew they did another amnio to make sure he was ok. I distinctly remember her saying the results came back normal. Fast forward to last week. At my 14 week OB appointment we talked about skipping genetic testing and that we were told likely my sisters issue is a one off and not hereditary. I was telling my mom about it when she says my nephew carries the same abnormality as my sister. Well sh*t. Would have been nice to know 3 years ago when she had those results which now means it is hereditary. After this we decided we should get the genetic testing done so now I am getting myself tested next week. If I am negative we will skip the counseling all together like we did when I was preg with DS. I am just so annoying I am just now hearing this and that his could have affected me and my current DS. I do have to say that the abnormality symptoms I guess u could say that my sister has is that she can be a little socially awkward and doesn't deal well in school type settings. For me I have always been polar opposite of my sister and the abnormality actually explained why we are different. I really doubt I carry the same issue but man alive. This is important and why they thought they told me when they didn't is beyond me. So now I am carrying this weight around and if the test is positive I am not sure how I am going to take it being I have had a normal life. Not like she hasn't she has but I am just upset at the whole situation. Sorry for the rant. Thankfully my doctor is ordering the bloodwork and if it comes back negative for me we will skip the conseling. Ugh. And we will know he results within a week.

lizzib45's picture
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And I didn't mean for that to come off that I don't love my sister and nephew. Love them to pieces regardless. And I am sitting at the lab right now. I figured I don't need to wait any longer than needed.

shadow_grey's picture
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Not defending them not telling you (they should have), but ithey could have been under the impression you wouldn't be effected. Anything genetic your sister has, there is a 50% chance of each of her children inheriting the infected gene / chromosome. If the mutation occurred first with your sister then there would be no chance of you having it. That said, without having tested the family there is no way they could know if the mutation first occurred within your sister.

Good luck and hopefully you don't have to wait long for the results.

lizzib45's picture
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Yeah we have no idea if my sister is the first to carry the abnormality. My mom has considered getting tested herself but why. That's just going to make her more upset. I was just frustrated they didn't tell me. I think that's kinda am important thing to tell your family. So now I sit and wait for the results. If it turns out I have it then we need to consider and amnio and possibly having DS get tested. But one hung at a time - we will wait for the results.

VCoates's picture
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That sucks! I'm sorry. I agree, they should have told you. Hopefully everything comes back normal! KUP!!

mistym516's picture
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Sorry to hear that you had to get stressed over it! But it is good that you do know about it being hereditary now and you can get tested to make sure all is well. Smile Hoping all is normal for you and you can be at ease after your results Smile