Topics

Carriers
My husband and I just found out through gene sequencing that I am a carrier of deltaF508 and he is a carrier of 5T. He testing negative in every way except the 5t. What are the odds of our children having CF? To me the odds aren't clear, our councilor says they could have a "mild" form of CF or ...
24.03.2014
CF mutations
I am a mother to a girl with F508del/CFTRdele2,3 (21kb) mutations. She was diagnosed at 2 months old. Now she is 5 and doing very well. Only 2 lung infections, no P.a cultured. Still I am concerned as I read both of the mutations are clasified as "severe". Does it mean that the progress of the ...
24.03.2014
CF in blood work but no symptoms
About 12 years ago it was found that i had full blown CF according to my bloods but i've never had any symptoms - this was found as i was trying to do egg donation. I am now wondering if this is common or whether it is rare and somebody may be interested in it? Both my parents were then ...
24.03.2014
Diagnosis CBAVD and PID
Dear expert team, due to the diagnosis azoospermia of my husband we have been sent to genetic counselling. Suspected diagnosis: translocation. Result of the molecular genetic investigation of my husband: for the intron 8, the allele combination 55/7T has been found. Therefore, the suspicion of ...
25.03.2014
F508del+L206W mutations (suite)
Hello, thank you very much for your answer and your support. During pregnancy, Cystic fibrosis had been suspected prenatally in our daughter (and confirmed one week after her birth), she is since then followed by one CF doctor-pediatrician. We had a first disappointing contact with a geneticist ...
24.03.2014
Classification of the illness possible? What to do?
Hello, many thanks for your help in advance! Please tell me, how I have to react to the following conditions in order to find out, if I suffer from CF and what I can do in order to impede the development of further clinical symptoms: Age: 36, male, in the frame of a genetic investigation at a ...
28.02.2014
Medical interruption of pregnancy / cystic fibrosis
Hello, I am at present in the 7th month of pregnany. The baby has just been diagnosed with cystic fibrosis. I would like to know if it is possible to practice a medical interruption of pregnancy.
27.02.2014
F508del+L206W mutations
Hello, we transmitted to our daughter the F508del and L206W mutations. She is one month old today and has already a severe gut disease (very short small intestine after a meconium ileus). The L206W mutation seems rare in France. What grade of severity of lung disease have similar compound ...
27.02.2014
Few elastase in the stool
Hello, In my son (4 years old), very few elastase could be found in the stool and four sweat tests had already been done (in two different CF-centers), all positive. On the other hand, the genetic testing was negative. Can it be that he has "only" problems with the pancreas? The physicians ...
17.02.2014
Kalydeco® off-label
Dear expert team, my son has the following CFTR mutations: 1717-1G>A (class 1) und die mutation S549R (gating/connection, class 2 oder 3) Kaleydeco ® has indeed at the moment only market authorization for the class 3 mutation G551D. However, tests with other mutations have been done. There it ...
12.02.2014
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