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 ...
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?
F508del Heterozygous
Hello, I read this article very encouraging: But for heterozygous F508del, do not we say that if we correct a mutation, we "cure" the disease ?? So, those who have at ...
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 ...
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 ...
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
Symptoms of rare mutations in our baby
My husband and I are both carriers of a CF mutation and I'm pregnant. We were told, there is a 25% chance that our baby could inherit our two mutations and we want to know what symptoms the child may have if this is the case. My F508del mutation is common (with R668C variant, which should not be ...
Is always tested for CF when doing an amniocentesis [In Germany]?
Can one sibling have an atypical CF and one sibling a classical one?
Dear ladies and gentlemen, we have 2 sons, the older one is 2.5 years old, the younger one is 5 months old. Our older son has a massive failure to thrive, he weighs with his 2.5 years only 9 kg. As he is a former prenatal baby with a half-side paresis, the physicians thought the reason for this ...
Only mother is carrier, is CF now excluded?
At the 20-weeks ultrasound echodense intestines were seen. Research has been done whether my partner or myself have the CF mutation. Yesterday, after 2 weeks of uncertainty, we had the reassuring call. I indeed seem to be a carrier and my partner not. As I understand CF is now excluded, but they ...
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