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Old 01-28-2011, 05:24 PM   #1
oregonbound oregonbound is offline
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(female)
 
Join Date: Jan 2011
Location: USA
Posts: 10
oregonbound HB User
Positive for R117H and I have questions.

I found out in 2005 that I am a carrier for R117H Genotype 7T/7T, 5T ALLELE Negative. I have never seen a genetic counselor for this, as it's never been recommended by a doctor, yet. To be honest, the OB/GYN who told me this didn't seem concerned at all, and when I told doctors after that they weren't concerned, so I wasn't concerned.

My first son was by my ex-husband. He had a newborn screen and I don't remember what the results were. I don't remember if they said he was a carrier or not - could he be a carrier? I feel terrible that I don't remember what the results were.

My second husband tested negative.

I've had many miscarriages (7 that I know of, 4 alone in 2010 while TTC). I'm under the care of an RE and she did bring this up, but did not elaborate at all if this could be causing the miscarriages. She is, of course, running further testing.

My questions are:

Should I be more concerned, take more action?
Do I need to have all of my children tested?
Could any future children be a carrier? Could they be effected by this?
Could this be causing or playing a roll in my miscarriages?
Anything else I should know?

Thanks for your help.

Last edited by oregonbound; 01-28-2011 at 05:25 PM.