I am a carrier of the CF mutation N1303K, and more specifically of the heterozygote mutation N1303K (c.39C9, exon 21, Genctype IVS8 polyT:7T/9T). I have been checked for 46 common mutations (greek panel). I am 13 weeks pregnant. My husband will be checked, but we will have the results in one month. ...
My son: a 3 months-old CF baby
Hello, My son born in September 2014 was detected to have cystic fibrosis in October 2014. Since then, our lives are turned upside down .... A lot of stress and fear for the future of our child. We got the results of mutations in December. Since I’m crying a lot... Can you give me some ...
Explanations about mutations
Hello My son, born in mid-November 2014, was diagnosed via Gutrie test perforemd at birth. On the eve of his first month we learned about his illness, and performed a sweat test giving 103mmol / L. Everything is new and I do not fully understand the mutation he has got. Indicated two mutations ...
Risk for cystic fibrosis: carrier father, no carrier mother (??)
Hello, I am contacting you because I am pregnant in the 3rd month now and I have concerns about my baby and a possible disease. We have learned recently that my husband's niece (daughter of his sister) was diagnosed with cystic fibrosis. We inquired about the disease and its transmission and had ...
F508del/Normal Genotype and ENT symptoms
Hello, as I am heterozygous F508del / normal and had a sweat test of 59 in 2004 I was told that I am not sick but I have a treatment for nose and Eustachian tube problems that no longer works and causes a cholesteatoma. I am looking for a clear diagnosis. I live in the Var. Who to see?
Mutation DF508 / R117H 7T
Hello, I am 20 weeks pregnant and we just learned that our baby has inherited by our mutations. My husband is a carrier of the DF508 mutation and myself the R117H 7T. Can you tell us about the symptoms that our child could have, how does this will lead in his daylife? Thank you in advance for ...
Mutations of the same class or not?
Dear expert, Everywhere you read about different classes of mutations. I can understand that predictions cannot be made. But now I was wondering if it matters / makes a difference whether you have two mutations of the same class or 2 mutations from a different class ... And if 2 same mutations ...
Genetic analysis
Hello! After two sweat tests we know, that our daughter suffers from CF. Today we got the results of the genetic analysis of our daughter. She has the following mutations: c.1647T>G und c.1652G>A Can anybody tell me something about it? It is also written, that she is "compound heterozygous". ...
Vertex and F508del and 1717-1GA in exon 11
Hello, I have got the F508del and 1717-1GA in exon 11. Do you know about the clinical trials for my mutation, is there any trail in progress? Best regards
Hello I have heard about the epigenetic, which is presented by INSERM as one of the major scientific and medical challenges of our time. Could you tell more concerning the use of epigenetic for CF treatment? Thank you
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