Hubby is Reduced SMA Carrier...Should I be worried?

Fergiegal

I was recently told I was a carrier of SMA (Spinal Muscular Atrophy), and today I got the results that my husband is a Reduced Carrier of SMA. The doctor basically said that we have a 1 in 600 chance of having a child with SMA. Her body language and the rest of the info she gave me basically leaned towards the fact that I shouldn't worry. But, I have also noticed this baby barely moves. And when it does, it's very light movements. Now I am putting everything together in my head and it's really bothering me. Maybe it's just a really calm baby, i don't know...

Anyone dealt with a similar situation? 

*LrCg*

My friends are both carriers and they had a baby with SMA. She had a child from a previous relationship without it. Anyways they had no clue their baby had SMA until she was almost 6 months old and it was the worst form type 1. So you wouldn't know this early. Do you have an anterior placenta? That can be a cause.

ready-or-not

I don't have any experience with SMA but wanted to tell you my 1st DD barely ever moved. I was about 8 months pregnant before my husband or anyone else ever felt her kick. But she is totally fine. So try not to worry too much about the light movements.

Good luck!

Fergiegal

ready-or-not said:

I don't have any experience with SMA but wanted to tell you my 1st DD barely ever moved. I was about 8 months pregnant before my husband or anyone else ever felt her kick. But she is totally fine. So try not to worry too much about the light movements. Good luck!

Yes, also one of the reasons I think this is a girl. My first was a boy and he was sooooo active! We shall see. Thanks for your post!

Fergiegal

KatieCGC said:

I work in genetics and I've never heard the term reduced carrier. I'd suggest you ask for a referral to a genetic counselor/geneticist to help explain the results a bit more. Most mds don't fully understand the details of sma testing because it's a bit more complicated than things like cf. It might have something to do with the fact there are actually 2 genes for sma and having extra copies of one is protective. Agree with pp that you'd be unlikely to see any issues right now.

Yeah, when the doctor came in and told me I was so confused. 1. Because the maternity concierge person at my practice called me and told me my husband was not a carrier of SMA 3 weeks ago, and now all of a sudden is a reduced carrier. Plus, when I was told I was a carrier, I did a lot of research on this , and never ever came across such a term as "reduced carrier." I have an appointment with my perinatologist in 3 weeks we shall discuss then.