Baby with possible CF
I have a 6 months old baby (weight" 7.6 kg, height 74 cm). It was born 3.9 kg in weight and 53 cm in height. I was tested before getting pregnant for CF and was found not to carry the DF508 mutation. My husband has not been tested. My baby had two episodes of bronchiolitis in a month. Some times ...
Chance for CF
I am 36 years old. Since I was a child, I had frequent respiratory infections (and pneumonia). I was born in 1982 and had a sweat test when I was young, due to the frequent chest infections, with negative results. I was diagnosed with allergic bronchial asthma. I have chronic sinusitis and I had ...
Wish to have children
Dear team, my partner and I, we want to have a child. Until now, it did not work and now an azoospermia came out in my partner. The urologist said, we could have a genetic investigation done, if he wanted. My husband (31) has no symptoms. He hasn't any problems with digestion, nor with the lungs ...
distended gallbladder and hyperechogenic bowel
Our second baby (I am 20 weeks pregnant) was diagnosed with distended gallbladder and hyperechogenic bowel. Are these two connected, or not? Could you give us some information about the first, which is somewhat rare? Is amniocentesis advisable?
Should we do a sweat test?
My daughter is 19 months old, weighs 8.5 kg and is 76 cm tall. As you understand, we have nutrition issues. My eldest daughter is 5.5 years od and is pretty thin (15.5 kg). Our paediatrician has done some initial tests for the low weight issue and the results were good. She told us that the child ...
possibility for CF
I am a mother of two children. My second child has a persistent wheezing. We have had a full respiratory examination, an Xray and we did a sweat test with a result of 19.2. The first testing of the sputum reported pseudomonas, but not the second one. We were advised to have a genetic testing for ...
Stenotrophomonas maltophilia and sweat test
I have a baby girl, 11 months old. She had secretions and we visited the pediatrician, an ENT doctor and a pneumonologist, we had a chest an xray and sputum cultures. The only finding was Stenotrophomonas maltophilia. We will do a sweat test. During my first pregrancy I was tested for CF mutations ...
Cystic Fibrosis
After the genetic testing for CF mutations my wife was found to be a carrier of the c.476T>C, L159S exon 4 mutation. She is now 16 weeks pregnant. I am being tested for the 95% of CF mutations. In case I am a carrier of a CF mutation, what chances does the fetus have to suffer from CF and what kind ...
Your opinion
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 ...
Carrier or patient?
My son is 10 months old, weighs 8 kg and is 75 cm tall. He suffered from dehydration last summer and we were hospitilised. We discovered that he carries the del508 mutation. We did two sweat tests at Hippokation Hospital and both were negative (values 22 and 23). We were tested for 85% of CF ...
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