Topics

Prenatal diagnosis
Hello, We have a 5 year-old daughter who was diagnosed with cystic fibrosis at the age of 4 months. Since this day we have been in safe hands in terms of medical and physiotherapeutic care. Our daughter is fine, till today she has not had any evidence of problematic germs. We have our ...
13.09.2015
Genotype 7T/7T
My husband was tested for mutations in the CFTR gene, and in the results it writes: “ the genotype 7T/7T was detected in the sample in relation to the polymorphic region of the CFTR gene”. Does the above mean that my husband is a carrier of the disease? The reason for him being tested was ...
19.09.2015
Amniocentesis
I was checked for >98% of CF mutations and I was found to carry the DF508 one. I am pregnant, therefor my husband was checked as well. If the results are negative, then the fetus has a 50% chance to be a carrier? If my husband is found to carry the same gene, then there is a 25% chance for the ...
14.08.2015
Treatment for CF
Is there a treatment/cure for a person with the mutations DF508 & 621+1G>T?
14.08.2015
Heterozygous F508del/2789+5G>A
Hello, I am 56 years old and CF compound heterozygous F508del / 2789 + 5G> A. I read several foreign sites that ivacaftor was prescribed to patients with the same mutations than me, with results that seem spectacular. My pancreas hardly works, but being still pre-diabetic I try to save the few ...
05.08.2015
Research and mutation c.489+1G>T
Hello, I wonder if there are many people homozygous for the mutation c.489 + 1G> T (621 + 1G> T) and what about therapeutic or research, is there hope in this case?
05.08.2015
F508del Heterozygous
Hello, I read this article very encouraging: http://www.news-medical.net/news/20150519/Two-drug-combination-improves-lung-function-in-some-cystic-fibrosis-patients.aspx But for heterozygous F508del, do not we say that if we correct a mutation, we "cure" the disease ?? So, those who have at ...
05.08.2015
H199Y mutation
Hello, my daughter born in 1995 has a H199Y mutation not listed in one of the four mutation classes (confirmed by doctor and scientist of the French CF association). How is this possible and how to know in this case if one of the latest treatments and future developments will be of ...
05.08.2015
Carrier of a rare mutation
Hello, Following a family tragedy (the death of my nephew at one month of life because of a rare and serious cystic fibrosis. My sister and her spouse are carriers of a rare gene...). For myself I conducted genetic tests. It turns out that I'm carrying, like my elder sister, a CF gene (which is ...
05.08.2015
P5L
Hello, I have a child with N1303K mutations and P5L, he is 2 years and so far has no symptoms of the disease. Have you heard about this rare mutation P5L? Thank You
05.08.2015
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