Positive Newborn Screening for CF

[GertA~mom~of~5]

My son was born October 6th, and we got the news last week that his newborn screening came back positive for CF. He had an IRT level of 84 and they found that he has a heterozygous G551D gene. We go for a sweat test on Wednesday to find out for sure. Its been a week of worry...he seems fine, hes my 5th child and seems to be acting just like the others when they were newborns. Hes been gaining weight. He regained his birth weight before he was two weeks, and hes had normal bowel movements and breathing, except for a stuffy nose, but my older kids do also. We are praying hes just a carriers but the worry is still there. Would he have symptoms now if he has it?

 

[Printer]

There are almost 2000 known CF mutations, any two will cause CF. A newborn screening is usually for the most common 32 mutations. A sweat test will help but I would ask for a FULL CF SEQUENCING.

He must be seen at an approved CF Center by a CF Specialist. A sweat test must be given at a CF Center and NOT by a local Doctor.

Having said that, there is a very high amount of false positives on newborn screenings.

 

[Aboveallislove]

Dear Mom,

I'm so sorry for your worry. To answer your question: He could seem "normal" and still have CF. The sweat test will tell. Did they tell you to give him salt before hand? If so, make sure to spread it out in formula and that you might get a "cough" b/c it irritates.

But the most important thing I want to tell you is this: If he does have CF, he is a "lucky" CFer because he has one copy of G551D. That is the only mutation that there is currently a medication which can "fix" the underlying defect. It doesn't fix it perfectly, but it has been a miracle for some. It is only approved currently for 6 and older, but it should be ready for 2 and older by the time he is 2. SOOOO, know that if he has CF, he has a drug that will help him stay very healthy and likely have a completely "normal" life. There's another mom I chat with whose son is now on few treatments and few meds and is completely non-CF functionally and his lungs had no damage between years 0-4. Which means that you need to be on top of all of his meds and treatments IF he is diagnosed with CF because then he'll have great lungs at age 2 when his little miracle med is ready. Sending hugs and prayers.

 

[GertA~mom~of~5]

Thank you both for replying. His sweat test came back normal at an 11, and that he is a carrier. But I'm still conserned. With the first arm they didn't get enough sweat and the second they said they got barley enough. The doctors and genetic counselor assured me that he does not have cf, but his bowel movements worry me, and I did tell them at the meeting, but they sort of brushes it off and said the sweat test can't be wrong. Does anyone know or can explain what a formula feed baby with cf bowel movement may look like. He is my 5th child and they smell an look not like my other children. They are green, smell pretty bad like a sewage smell, sometimes they are watery and sometimes they are thicker like pudding or mouse. He is on a formula for gas and fussiness because normal formula he didn't poop at all barely. It just worried me and that what if is in the back of my mind.

 

[Ratatosk]

Push for genetic testing. Only way you and those doctors insisting he doesn't have it will know for sure. My son had a normal sweat test, however blood tests showed otherwise. Based on your description of his stool especially! If they refuse additional testing ask them to put in your sons file that parent requested additional testing and they refused because... Then run do not walk to another doctor. Preferably one at an accredited cf clinic

 

[Beccamom]

Some people with CF are pancreatic insufficient and that can cause the odd stools. This is tested with a fecal elastase test which is done by dropping off a poop sample at the lab. 11 is considered normal for a sweat test, but was it done at an accredited CF center? Check www.cff.org and make sure the hospital that did the test is accredited.

 

[JustaCFmom]

Put your mind at rest and push for thorough testing. There are people with CF who had *normal* sweat tests, and I can say, my daughter had a *positive* sweat test & she isn't even a carrier! The sweat test isn't everything. I would find a doctor who would recommend a complete genetic screening test.

 

[WildCherry]

My son had an inconclusive screening for CF at birth with and IRT of 117 and had one copy of DF508. His sweat test wasn't normal like your child's but just one point over into the borderline area so he did get the full genetic screening because of that. Had he been in the normal range they wouldn't have given him the further genetic testing. The full screen found another mutation that at the time was still under evaluation if it was disease causing. A few months later he had a normal sweat test. Luckily for us they recently declared that second mutation non disease causing so he is just a carrier. As for your sons stools I can relate and hopefully put your mind at ease. When my son was a newborn he was on a formula for gas as well and I think that caused his stools to be smellier than my first son. They were also green and sometimes watery and sometimes more like pudding. It has something to do with te way the milk proteins are broken down in the formula. It got better as he got older and his digestive system matured. I think that formula for gas makes them pass gas more in turn making them stinkier babies but at least they are getting it out instead of being in pain! However I know where your heads at right now and if you have any doubts at all I would push a doc for the full genetic screen. Unfortunately you have been given this information and now you can't "unknow" it. We felt we'd always be concerned that his second mutation would always haunt us so after discussing with his doctor we started doing other tests until we were ok with his "carrier" status. I would just do whatever you need to do to move forward with confidence. There will be a doctor out there to help you...you just might have to keep trying. Good luck