spinal muscular atrophy

[Dolphinz4]

Hey ladies, well I just got a call today from my dr telling me I am a carrier of the gene that causes sma...... I didnt have this testing done with my first pregnancy...I am freaking out...hubby has to go in and get tested to see of he is also a carrier, if he is, theres a 1 in 4 chance our baby will have the disease....I am pretty broken hearted at the moment.... didnt even know this existed ever! And my son is 100% healthy.... any of you ladies have the gene or have any experience with this?

 

[LadyHutch]

Sma no, but being a carrier of a genetic illness, yes. I am a carrier for hyper IgM x-linked immunodeficiency.

My sons have a 1 in 4 chance of getting hyper IgM. My daughters will have a 1 in 3 chance of being carriers.

Not a lot you can do but be educated. Should your partner be a carrier as well, you can do chorionic villus sampling between 11-14 weeks to find out if the fetus is affected, then plan accordingly.

 

[confuzion]

I'm a carrier of SMA. Had myself a freak out when I found out. Did a lot of research and found out the chance of both parents being carriers is very very slim. More of a chance of the tests being wrong than both of you being carriers lol.

My husband was tested, and came back clear. I'm sure it will be fine. Don't worry yourself.

 

[Dolphinz4]

Thanks so much. ?.I cant believe I didnt do this test when I was pregnant woth my ds...its just another thing to worry about...I hate the waiting aspect...I have to wait for my hubby to go in and get tested, then wait for the results. Ive read that 1 in 40 people are carriers, so Its hard to believe I havent heard of this before!

 

[confuzion]

Yeah I had never heard of it either. Zero history of it in my family. We were shocked. But if I'm doing my probabilities right here, with a 1/40 chance, the probability of both you and your husband both being carriers is 0.0625%.