Please help me

[ademaddis1279]

Hello everyone. I have a question that I am hoping someone can answer for me.  My son Daegan is 3 months old.  He has been sick for literally over 2 months.  He was hospitalized once for RSV and has never gotten better.  He doesnt gain much weight and is not consider failure to thive. He ended up back in the hospital again very sick but this time no RSV yet still severe congestion.  His doctors told me they are about 95% sure he has a form of cystic fibrosis so they have ordered a genetic testing and many stool samples. My question is this....Can he have CF if his newborn screen was negitive?  They are so sure he has this but his screen was negitive. Wouldnt it have shown up then?  Thanks guys I appriciate any answers

[NCRinHI]

I am not an expert in this, but from my understanding, there are so many variations in gene mutations, so they might have just been looking for the comman ones. I don't even think that they have identified all of them yet. Make sure that you get him tested through a certified CF center. you can go to CFF.org for more info. Hope this helps, Noella

[mommyOfours]

I know that they only test for the most common strands of CF in newborn screening... Sweat test and genetics are the best testing.

[AJsMommy619]

My sons doc told me that the IL newborn screening does not test for every possible mutation because there are so many--it is limited to the most common mutations.  I don't know what your state does, so you  might want to check on that.  I hope all is well...

[sm_fuller]

The screenings are not 100% accurate. When my daughter was screened 2 years ago they said that she tested positive but they figured that it was a false positive because they said that there had been alot of false positives in black children...she told this to me because I am bi racial and my husband is white and as you know CF is commonly found in children of European decent or white children. It was actually correct but I thought it was interesting that they had been getting false positives. Although not to discourage you...my daughter was also considered faliure to thrive when she was 5 months old. She was only 10 pounds. Also her first sweat test only came back borderline but when it was done later it came back MUCH more positive. Good luck though!

[elliesmommy404]

I don't think so.  But in a month or two they can do a sweat test and it will tell them how much salt is in his sweat.  If it's elevated (stays the same throughout life), then he does have some form CF.  While I said I don't think so, I will say that my SIL has a friend with a son that is only a carrier of CF, but he has all the classic symptoms of CF and has since he was a newborn.  While they have indeed made a lot of progress in understanding and treating CF, there is still a lot to be done.  They claim your can't have symptoms and just be a carrier, but I beg the differ.