CF or not?

A

anonymous

New member
Last year, we were told that my husband was a carrier of a previously unidentified CF mutation (I am a carrier of a common one). This year, we learned that two other cases have been identified. One was in an 11 year old boy with chronic pancreatitis (he also carried the D508 mutation on the other allele). He didn't seem to have lung problems but did have 'asthma like' symptoms. But, his sweat test was borderline!!! The other was a woman in her 20's with my husband's mutation and an apparent 'mild' one (R117H 7T 7T I think) who has bronchiectisis (sp.??). She has two brothers as well who are CBAVD but not typed yet.

No one will say definitively if my husband's mutation is FOR SURE a CF mutation! What do you all think? Could those other cases be coincidental and my husband's weirdo mutation just be a 'red herring'? Our test was done by Ambry (who identified by husband's mutation).

Thanks.

P.S. with the discussion of percentatges of carriers having an effected child, is it really JUST 1 in 4? It seems that so many families have more than 1 in 4 effected children. Do you think the odds are really higher than that?????
 
A

Allie

New member
the odds are approxiametely one in four. But it's like flipping a coin. it's supposed to be a 50% chance of getting tails, but some people flip a coin four times and get it all four. You really can't say without IVF.
 
A

anonymous

New member
I know of a woman who has a young daughter with CF. After her daughter was diagnosed, both parents did carrier screening. It turned out that the father has a DF508 and the mother has a DF508 and RH117 (not showing any CF symptoms yet & in her 30's but considered CF, so just being monitored at this time). Some people with RH117s present more CF symptoms than others. Anyway, unfortunately her daughter has both DF508s. You will have a higher chance -50% rather than 1 in 4 of passing on these Genes (since your husband has 2 of them) but since the RH117 is so mild, yuo may not be very concerned about it. The thing to keep in mind is that these mutations effect each person differently - there are studies right now that are looking into other genetics and how they play into CF....

I am not sure what Allie means by saying IVF, but I am thinking she means PGD? Anyway, you can google PGD for more info on how that may help you avoid having a child wcf.

Oh ya, and just an FYI - I know of some families that have mostly kids with CF (2 that 3 or the 4 have it) but I also know of other familes who have lower numbers (1 out of 8 for example).

Good Luck!
 
C

cfmom2rt

New member
Sorry in advance but what is PGD We are trying to get preg. again & we have a cfer. His mutation is Delta f508. Of course we would take what we get no matter if cf or not but if there is a way not then we would be interestd in looking into that first. thank you, Leah
 
A

anonymous

New member
PGD is a procedure you can have done with IVF. It can test embryos for CF and only implant the ones that do not have it.
 
J

julie

New member
I've got some good info on my site if you want a starting point with your questions/curiosity about PGD

www.cysticfibrosismaleinfertility.com
 
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