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Question about genetics


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Old 01-01-2015, 02:16 AM   #1
ShirleySh
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Question about genetics

Hi,

I'm from Israel and didn't find any active Israeli forum for CF, so I would really appreciate your help.
I have a 14 months old son (third after 2 healthy boys. one with Celiac. we consider him to be healthy)
Before the pregnancy i took a genetic test for CF mutations which came back negative.
During the pregnancy our son had a mildly extended bowl, no obstruction, no bone-looking just mildy wider than normal. So my husband took an extended genetic test covering 97% of relevant mutations, and came back negative as well. Doctors told us the chances for the baby to have CF is less than 1 in 100K, and there is no such known case in Israel.
baby was born on week 34. 2kg. After birth everything went OK. They don't do CF screening here after birth. Now we are worried because of some symptoms: He is FTT. Weighs only 7.5kg at 1 years old (2nd percetile) but his hight is in the 45 percentile. He has always gained weight, but very little.
He doen't have Dairrhea. He poops 1-2 times a day. normal poop. He is a very small eater. He has had a couple of viral lung infections. once when he was 10 months old. Another, last month. He was treated with inhilation and antibiotics, which were very helpful. In between there were no coughing. And he stopped caughing a few days after we started treating him. He doesn't taste salty when I kiss him on his cheeks and hands. but it does seem salty on his forehead, under his hair. Doctor wanted to check him for CF, but took it back when she heard both of us don't carry CF mutation.
I guess the question I'm asking is: Is there anyone here that both the parents tested negative for main CF mutations and their son or dauther has CF?
Thank you in advance for any information you can provide me with!

 
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