Maple Syrup Urine Disease?

Question

I just got my genetic test back and it came back positive for MSUD. So I have to wait until Tuesday to talk to a genetic counselor. Does anybody else have any experience with this? I'm freaking out. I've never heard of it before so I'm doing tons of research and just was wondering if anyone is in the same boat. I'm currently 15 weeks + 2 days

Answer

I've also came up positive as a carrier on one of the genetic test but it was for familial Mediterranean fever, when they tested my fiancée he came back positive as a carrier as well. We learned that there is a 25 percent chance that the condition can be passed on to baby girl and 75 percent chance she will either just be a carrier or unaffected. I opted not to do an amnio or further testing until she is born. I know it's nerve wrecking and scary when all you dreamed about was having a healthy baby, hopefully in your case your partner comes back negative and then you will have nothing to worry about!

Answer

Hi Amanda, I just sent a request to talk to you, about MSUD. I appreciate if I could chat with you on here about it if you can

Answer

I've heard of it before. It's not unheard of where I'm from due to the large population of Amish families in the area. I don't know anything about the actual disease though. Do some reasesrch online, but just keep in mind that you haven't received the actual diagnosis from your doctor yet so nothing is set in stone.

Maple Syrup Urine Disease?

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