Can someone who is just a carrier have CF????

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CFlat

Guest
hello everyone,
I was wondering if anyone could answer a question for me. Here goes...My daughter has CF and is 20 mos. old she got a 122 on her sweat test and has double mutated gene deltaF508 (the most common one). So from this you can definitely assume she has CF. My newborn son however is a different story. He took a sweat test at 6 wks old and got a 34 ( 35 is borderline) and he too had DNA done and was found to carry the single gene of delta F508. My question is does this mean he is just a carrier? If so then why does the DNA results say at the bottom that he is atleast a carrier and the result does not rule out that he is affected with CF? And why do we need to do another sweat test at 6 months? I know sweat tests can be false negative in newborns. But can a carrier have CF?????? I am so confused, can you please help. Any ideas or comments would be great!
Thank you,
Lynsey -daughter Avery 20 mos. w/CF and son Rhett 11 wks.
 
C

CFlat

Guest
hello everyone,
I just noticed my husband has been posting questions as well. Sorry for the confusement. I guess we need to learn to communicate better. Ambry genetics did our DNA tests for those of you who asked. What I don't understand is why they won't rule out CF, when Rhett only has one mutated gene? Why do we have to do another sweat test at 6 mos???

Lynsey- mother of Avery 20 mos. w/CF and Rhett 11 wks
 
A

anonymous

New member
I know this probably isn't the answer you want to hear, but given the fact that avery has CF- they probably don't want to completely rule out CF because it could potentially become a legal issue of misdiagnosis. I know this is probably not even near what you wanted or were thinking but it's the only logical conclusion that I can think of.
Best of luck with all of this,

Julie (wife to Mark 24 w/CF)
 
A

anonymous

New member
I think it says at the bottom that results do not rule out that he is affected with CF because some mutations have not been identified. In your case, however, you KNOW which two genes can only show up delta 508 and delta 508. Since only one showed up on his genetic screening that would mean he is only a carrier. What a blessing!! You should call your daughter's cf doctor, fax him /her your letter and let him/her explain it to you so you understand the letter clearly.
Sharon, mom to Sophia, 3.5 and Jack, 1.5 both with cf
 
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anonymous

New member
I think the previous post is exactly right. They don't want to be responsible for misdiagnosis. They cannot say for a FACT that you or your husband do not have CF therefore there is the possibility,though remote, that you could have passed a different gene (if you had CF).
I say that because at the bottom of my results page for my daughter they wrote something to the effect of, this fetus is a carrier but does not have cystic fibrosis; unless one of the parents has CF. Which would mean there could be a different mutation unknown to the lab.
Just a guess and therefore they want to cover there buts.lol
Jen
 
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NoDayButToday

New member
Sharon is right. But I just wanted to say that it is possible they put that sort of 'disclaimer' at the bottom of every letter because of the fact there are unidentified mutations, and even Ambry's test is not 100% certain
 
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anonymous

New member
I think it's a combination of the lasts few posts. People are so sue happy nowdays, it's like a profession for people who aren't even lawyers. Businesses have to do all that they can to protect themselves, even if it seems out there. I think it's put there because as already said, even Ambry's test can't detect all mutations (because they are finding new ones daily) and because some mutations are believed not to cause any CF related problems; but this statement is still being researched. These are just my thoughts tho, again there is no medical background in the statements, only speculation.

Julie (wife to Mark 24 w/cf)
 
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anonymous

New member
Lynsey,
Ambry puts a disclaimer on the bottom of <b>EVERY</b> report. Like everyone else said, because they haven't yet identified all mutations that cause cf, you can never completely rule out cf on <b>anyone</b> just by looking at the genetics. Ambry labs doesn't know that you have already identified which genes you each carry and that Rhett has a sister with two identified genes so they have to include the disclaimer for the rare case where someone does in fact have cf but they can only detect one gene (their gene study is the most comprehensive available. It has a detection rate of 96%). Since you know which gene Avery carries, the <b>only</b> way Rhett could have cf is (1) if he didn't have the same two parents as Avery, or (2) if you or your dh had cf. Since neither of those is the case, you can rest easy that Rhett is <b>just</b> a carrier <img src="i/expressions/face-icon-small-smile.gif" border="0">

As far as why your dr is repeating the sweat test, it probably depends on who ordered the test. If it was a pedi, chances are he/she doesn't fully understand the genetics of cf and is just following the advice of the lab. I don't know for sure what Ambry says but I know Genzyme's disclaimer says directly that if there is reason to still suspect that the individual could have cf, then additional testing through Ambry and a sweat test are in order (read it on my ds's report. He's not even a carrier per Genzyme but that is on their report nonetheless). If it was Avery's cf dr or clinic that is ordering the repeat sweat test, my guess is the same as Julie's - they're covering their butts. In the end, it doesn't really matter why they're ordering, I think it's very safe for you to rest easy that Rhett is just a carrier <img src="i/expressions/face-icon-small-smile.gif" border="0">

Last thing, as far as symptomatic carriers, there are several studies that indicate that carriers have a much higher incidence of chronic sinusitis than non-carriers.

I hope my post was helpful and not confusing. Congrats on Rhett's results <img src="i/expressions/face-icon-small-smile.gif" border="0"> Feel free to ask anymore questions you have!!
 
A

anonymous

New member
Thank you to everyone for answering my questions. I do feel a little better about the results. My only worry is that Rhett has been congested since birth and seems to cough alot for an infant. The positive thing I have to look at is that he is a big baby: 8 1/2 lbs. at birth and 13 1/2 lbs now at 11 wks. I am sure I have nothing to worry about, but of course it will always be in the back of my mind. I just can't wait until he is six months and passes (hopefully) the sweat test, then I will feel free to be happy.

Thank you,
Lynsey- mother of Avery 20 mos. w/CF and Rhett 11 wks. carrier of CF
 
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