Wise to retest Abby for CF?

[ejwiegert]

Hey you all!

We are getting ready for our first CF clinic appointment on Tuesday and at Abby's 1 month check-up on Friday, her pediatrician suggested that they have her retested on Tuesday. His thought is that the amnio/genetic testing could have been wrong and there is no point treating her for something she doesn't have because of a test error. He just thinks it is smart to verify the amnio results since no test is perfect.

Thoughts, ideas, suggestions? In your experiencies, do they normally retest for CF at the first clinic visit anyway to verify all of the results from other tests when the child was diagnosed at the hospital or through other testing scenarios? Since Abby was diagnosed prenatally, we've been told that we are in a good, but unusual position.

Thanks for everything!

 

[EnergyGal]

Sounds like you have a good doctor. It cannot hurt to retest. I hope he is right.

 

[coltsfan715]

I agree - no harm in retesting. I was tested as baby (which is what diagnosed me) then I was tested again as a teenager. I also received a blood test a few years after my test as a teen.

Never hurts to get another test result for reassurance.

Lindsey

 

[NoExcuses]

.

 

[amber682]

When my son was diagnosed, our clinic said they always do 2 tests just to be sure. In his case they did the sweat test, then they sent blood for genetic testing.

 

[ejwiegert]

I know it probably seems silly to ask this question, but I just didn't know if my pedi was being paranoid or what.

I think his experience with CF has been one with children who have the "classic" symptoms, so dealing with a healthy baby with a CF diagnosis puzzles him a bit.

I just don't want to come across as neurotic (my hubby would argue that will be inevitable) at our first visit with her.

I'm definately going to have her retested if they suggest it at the appointment, but I didn't know how hard I needed to push for retesting if they don't suggest it.

Thanks bunches!

Em

 

[coltsfan715]

Em,

If you feel uncomfy asking or think you will come across as neurotic - then blame it on your other ped doc. Just say he/she mentioned it and you were wondering how big of a problem it would be to get her retested - now that she is here and no longer in the womb. It is all in the presentation - I doubt they will think you are a neurotic mommy. Just wanting to listen to your doc and make sure you cover your bases is all.

Good luck at the first appointment.
Lindsey

 

[annonymous]

Based on my experience, I would definitely push for further confirmation!!! We have had multiple conflicting test results for my almost 8 month old son who was picked up on the newborn screening. Just to give you an idea of a few:

The DNA part of the test (NBS) found 1 mutation, but I feel strongly that his IRT level was high (making it positive) only because they did the heel prick when he was around 12 hours old (supposed to do it after they are 24 hours old to avoid abnormal results). This same test was redone when he was about 2 weeks and it was completely normal!
He had a pancreatic elastase test done at 2 weeks old, which showed him to be severely pancreatic insufficient. He never showed any digestive problems, so we had it redone at 6 months old and a perfectly normal test came back!
The big Ambry test was also done, which was negative, showing him as a carrier only. Each sweat test keeps getting lower and lower, however, it is in the borderline range. He has no signs of CF and is perfectly healthy and we can only pray that he continues to stay that way.
I say that it won't hurt to test again, but it could open a whole new can of worms by causing some confusion. IMO, you really can't put too much confidence in these tests. You really have to look at the whole picture. Tests can be pretty cut and dry most of the time, but sometimes they are not always accurate.

 

[thelizardqueen]

Sounds like a good idea. I was tested at 6 weeks, then I was tested again at 11 years, followed by a blood test when I was 14. It doesn't hurt to be too careful.

 

[anonymous]

Oh my gosh why wouldn't you retest even if the doctors don't suggest it. You are your baby's only voice, scream from the roof top if you have to. Did you get a second opinion after the first prenatal test or at least talk to another doctor?

 

[anonymous]

I guess I am confused here. Is the ped. thinking that her amnio results may be wrong meaning that she doesn't actually have the 2 mutations they found?? Or is the ped. just suprised by lack of symptoms (which is the norm for the mutation combo they found in her amnio)??

Not trying to debate anything, just really curious bc I haven't heard of anyone doing a second genetic test after one has shown 2 mutations...not that people don't have a 2nd genetic test - I just haven't heard of anyone doing it.

Best wishes!

 

[dyza]

Craig was retested early on also, he also had two sweat tests, they were normal results.

His original ''heel prick'' blood test showed up signs of abnormal pancreatic activity, which is the main indicator to CF in the blood test. Craig has no pancreatic problems and that is why he was retested.

 

[anonymous]

I have read articles about that combo of mutations and though genetically it looks like CF in fact the R117H can be a "neutral" mutation which is like not having a second mutation at all which means no CF. Hope that is the case for them!

 

[Ratatosk]

When DS was born with an instestinal blockage from Meconium Illeus, we had a normal sweat test, plus paperwork on the original genetic blood tests were inconclusive -- not enough of a sample.

DH and I just figured, we'd continue to treat DS as if he had CF, cpt, nebs, meds... In his case, because of his symptoms -- loose stools, the meconium illeus blockage, twisting, etc. pointed to CF, but inconclusive blood tests with a note that it was probably homozygous delta f508, there was always the inkling in the back of our minds that maybe he DIDN'T have CF. So we continue(d) on as if he does have CF -- we now realize he most likely does have it --and figure someday if test results come back otherwise, at least he has had excellent lung care.