Does anyone know about borderline sweat test results?

[anonymous]

Hi,
My daughter Avery is 20 months old and was diagnosed with CF 6 weeks ago. My son Rhett was just three weeks old when she was diagnosed. Now we are worried about him. His initial sweat test came back negative but the number was 35 wich is borderline. So the doctor ordered a DNA test about 5 weeks ago, we haven't gotten the results yet. We are pretty worried because of the false negative thing. And Rhett is having a lot of congestion and coughing. THe good thing though is that he is a pretty big baby, already 14 pounds (at 10 weeks old) If anyone can relate to this and has thoughts or comments please let me know. It makes me feel better to talk about it.

Lynsey -mom of Avery 20 mos. w/CF and Rhett 10 weeks(still waiting DNA results)

 

[anonymous]

Lynsey,
were they able to isolate the two mutations that your daughter has? If so, you son should match up to her perfectly with those same mutations if he has CF too. If not, and he is just a carrier he will have only one common mutation. Not all people with CF have lung, digestive and reproductive involvement. On some people (even with the exact same mutations) they may only be affected in the lungs. On another person, it is only their digestive system. On some it is both, or all three-it really depends on the individual and they haven't been able to pinpoint the exact reason for that (yet).
I am not sure if this is any help to you, or if you already knew but I wish you the best while you await the results. Please let us know what they turn out to be.

Julie (wife to Mark 24 w/CF)

 

[anonymous]

I replied on another post also, but I wanted to make a few comments here. Since your daughter was diagnosed 6 weeks ago, they are probably JUST NOW learning what her mutations are. So yes, your son's DNA (ONLY IF HE HAS CF) would have the exact same mutations as your daughter. That would save time on the testing, because the lab would know exactly which mutations to screen the blood for.

As I mentioned in another post, my 3yr old son was diagnosed when I was 6months pregnant with my daughter. They took the umbilical cord blood and tested for my son's mutations (since they would be the same). After 2 weeks, we learned that she does not have CF, but is a carrier. But the 2 week wait put a huge emotional strain on me. I know how it is to question everything and wonder. So here are some things for you to think about: Did you daughter have any signs that were missed when she was an infant? For example, my son ingested meconium during delivery and developed pneumonia at 2 days old. He was also VERY gassy - we kind of thought he was a little collicky. Some babies eat like crazy, but my son's eating habits didn't become obvious until he was over 1yr old. We also had no lung problems, but he did have a lot of nose mucus. The biggest differences that I noticed between my son and daughter were their birthweights (my daughter was 1 pound heavier, she just looked chubby) and the fact that my nonCF daughter seemed so much more comfortable (not as gassy). Deep down, I thought the results would be No CF, but I was so afraid of having false hope. I also worried about some snotty noses that she had. I also remember licking my daughter, but couldn't really tell anything. Have you given your son a lick to see if he tastes salty. He may be a little young for being able to taste the salt (IF he has CF). What about his belly? Does it seem flat in the morning, but really bloated once he starts feeding? Again - think about your daughter's "missed" symptoms.

I would love to tell you not to drive yourself crazy thinking about it, and to try to wait patiently for the results.... yeah right. I've been there - I just wanted a sign one way or the other. I wish your sweat test could have been definitive. More importantly, I hope for a negative (no cf) result.

Jena
4 yr old son cf
1 yr old daughter no cf