Babies' bronchi often congested

Question

My 14-month-old girl has a failure to thrive, she now weighs 7 to 8 kg for 67 cm, has also chronic diarrhea and constant bronchial congestion, is regularly treated with antibiotics and corticosteroids. Her respiratory therapist thinks for some time she has cystic fibrosis. Her doctor told me that as the screening has been done at birth it cannot be that disease. Is it possible she has CF and screening at birth was negative?

Answer

Hello,
systematic neonatal screening in France identifies more than 95 % of newborns with cystic fibrosis. This leaves a number of cases of CF who are not identified by the screening. Despite a negative CF screening test, the diagnosis should be considered if there are suggestive signs (such as poor weight gain, repeated respiratory tract infections or chronic diarrhea) and must be confirmed or eliminated by performing a sweat test.
I suggest you to contact the closest CF Center to your home to perform this highly specialized test (it is not painful or uncomfortable). The CF center will be able to take care of your child if the diagnosis is confirmed or find another cause otherwise.
You can find details of CF Centres in France by clicking on the link of the French Patient organization [links is not given here, as it is a French link]

Hope that answers your question.
Sincerely,

Gilles RAULT, MD
CF Centre Roscoff, France

20.01.2014