Cystic Fibrosis (R117H)?
I AM 25 WEEKS PREGNANT AND JUST FOUND OUT IM A CARRIER FOR CYSTIC FIBROSIS. MY HUSBAND HAS BEEN TESTED BUT WE ARE AWAITING THE RESULTS. HE IS AFRICAN AMERICAN/ HINDU SO IM TOLD THE CHANCE IS LOWER? MY QUESTION IS( THERE TELLING ME THIS IS A RARE FORM THEY NEVER HEARD OF .(R117H) IM CURIOUS TO KNOW WHAT THIS MEANS IF THIS IS WORSE BETTER THE SAME OF THE DELTA FORM?IF ITS LIKELY TO PASS ON TO MY UNBORN SON? THIS IS ALL NEW TO ME, NO ONE IN MY FAMILY HISTORY HAS HAD BEEN AWARE OF THIS AND NOW IM IN THATLOW PERCENTILE OF BEING A CARRIER? PLEASE ANYHELP OR INFO ON THIS WOULD HELP SOO MUCH?
Tagged with: Carrier • Delta • Family History
Filed under: Cystic Fibrosis
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Actually, the R117H mutation was discovered several years ago. The fact that you carry the mutation does not mean your child will have cystic fibrosis. Your husband must also have the genetic defect. If you are both carriers, your child will have a one in four chance of having cystic fibrosis. Here’s how it works:
If mom passes the gene on to baby, but dad does not – baby will not have CF, but baby will be a carrier.
If dad passes the gene on to baby, but mom does not – baby will not have CF, but baby will be a carrier.
If neither dad or mom pass the gene on to baby – baby will not have CF, and baby is not a carrier.
If both mom and dad pass the gene on to baby – baby will have CF.
Statistically, your baby could end up a carrier because you passed the gene on to him, but chances are good that he is not going to have the disease. Wait until your husband’s test comes back. If he is negative, you have nothing to worry about. If he is positive for the gene, then your baby still has only a 25% chance of having CF. I am sure you are going to have a healthy, happy baby. Good luck and congratulations.
Calm down, don’t worry. I am a carrier. My daughter had to have a sweat test when she was born – and she is a carrier too. My son is not. It’s a new test. I will just warn her when she gets older to be sure her husband is not so they don’t pass it on – you need to have two carriers to have a baby active with CF.