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Your opinion

Question
I have a son 20 months old who is 81 cm tall and weighs 9.5 kg. Apart from his small statute, he does not have any of the CF symptoms I have read about. He got ill once and he coughed, but he got over it in two days easily. His stool is normal, his sweat is not salty. Sometimes he eats well, others not so well, but he does not drink much milk, 200 ml/day. We did various tests but all were normal. When I was pregnant I did an amniocentesis and was tested for the common CF mutations with negative results. Our paediatrician suggested we do a sweat test just to be certain. Do you believe that it is possible for my boy to have CF? Thank you for your time!
Answer
Dear friend,
As you mention, your boy does not have big, smelly and fatty stool, his sweat is not particularly salty, he does not eat much and is somewhat small andyou have only heard him cough once after a chest infection. Furthermore, you have been tested for the most common CF types in Greece, which 50% of CF Greek patients carry, with negative results.
Based on the above, my opinion is that it unlikely that your son has CF.

Yours friendly,
Dr. Stavros Doudounakis
07.01.2018