Anyone else find out that they’re an SMA carrier during genetic testing?

Question

I found out I’m one of the lucky (not) 1/50 that carries the gene for SMA (spinal muscular atrophy). My husband is getting tested and if he carries it too, we’ll have a 25% chance that the baby has it (which is not compatible with life). The odds are low but I’m still a nervous wreck waiting for his genetic results. Anyone else in the same boat? Figured I’d start a support thread just in case.

Answer

Anecdotal, but in my daughter (3)’s birth group, there is a little girl with SMA who is on a trial medication (Spinraza) and she is doing wonderfully! Her movements and strength are not typical for a 3 year old, but she is thriving. 💕

Answer

It IS compatible with life. There are several FDA approved drugs that not only help maintain muscle but helps them grow and strengthen. With the new drugs (spinraza, risdiplam, etc) this doesn't have to be a fatal disease. And on top of that SMA does not effect the brain. These kids can be very intelligent.

Anyone else find out that they’re an SMA carrier during genetic testing?

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