Tested positive as a carrier for both CF and SMA — The Bump
High-Risk Pregnancy

Tested positive as a carrier for both CF and SMA

Hi! I just found out yesterday that I have tested positive as a carrier for cystic fibrosis (DeltaF508) and found out this morning that I am also a carrier for spinal muscular atrophy. We have an appointment with our genetic counselor tomorrow, at which time my husband will get his bloodwork done to see if he is a carrier, as well. I know the numbers and the odds, but has anyone else been told they are a carrier of BOTH of these diseases? I’ve been scouring the internet to find stories (and outcomes) from women who have been tested as a carrier for both, but can only find stories for one or the other. 

If you have tested positive as a carrier for both (or either/or...I’m looking for all the reassurance in the world at the moment!), I would love to hear how it turned out for you! I’m trying to be as realistic, but as hopeful as possible that my husband’s test results will come back negative and that baby boy will either be totally healthy or just a carrier at most. (: Thanks in advance!

P.S. — Sorry if this is the wrong spot to be posting this. Like I said, I’m having a hard time finding anything for this, so I made an educated guess. 

Re: Tested positive as a carrier for both CF and SMA

  • Good luck - if you already know the odds - you already know that chances are way in your favor ! I’m the carrier for same as you but for other genetic diseases and waiting for my partners test results he and they’re taking months to get them back. !! Do you carry the most common CF or a varient? Could make a big difference
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