Topics

Compund heterozygous for F508del and R117h
Dear ladies and gentlemen, the above mentioned mutations have been found in my case, when I (32 years old) had already been pregnant via IVF (in-vitro fertilization). I did the investigation, as these mutations had also been found in my brother when he was investiagted in a clinic for reproduction as he wished to have children. These mutations are in trans. During my pregnancy, I visitied a CF center. All investigations were not pathological, a sweat test had not already been done. However, a colonization with Staph. aureus had been found. My question: Is this a combination of mutations in which sooner or later classical symptoms occur or is this rather an atypical form? Best regards,
12.06.2017
Sputum
Hello, what are the symptoms of sputum in a baby? Best regards
12.06.2017
physiotherapie
Since very young, my 5 year-old daughter performs 5 physiotherapy sessions per week, all over the year with only exceptionally on Wednesdays take away the summer. I have another CF center closer to our home which is much less strict with only 1 to 2 sessions per week. Why is such a difference between the different centers? Is there research, about what is the best follow-up? I am very pleased with its follow-up but I do not understand this difference on a primary treatment in cystic fibrosis children.
05.06.2017
Heterozygous fetus of 14 weeks
After a trophoblast examination the results were negative for Down syndrome, but the fetus is heterozygous for CF. Will the baby always remain a carrier? Is there a chance for the baby to have CF? Its sister is 20 months old and normal. An amniocentesis was performed and a molecular karyotype was checked.
29.05.2017
Experimental treatment
Hello I’ve got cystic fibrosis with F508del and Q1411X mutations. I was sfor one year and a half under Ataluren experimental-treatment. Yesterday, I was told that the protocol is ending immediately because of a lack of significant results from the clinical trial. Nevertheless, for me I saw a reduction of exacerbations. I’m extremely disappointed by this news. This is my question: regarding my mutations could I take part in ongoing clinical trials? Thank a lot for your answer.
29.05.2017
How to disinfect sofas
Hello I’d like to know how to clean textiles, in particular pillows and sofas?
29.05.2017
splicing mutation
Hello I would like to know if there is ongoing research regarding splicing mutations? Best regards
26.05.2017
G542X mutation-PTC 124
I ‘ve just learned about the clinical development stop for Ataluren. My son has G542X mutation, I would like to know to if there are other ongoing clinical trials? Thank you
26.05.2017
Inheritance
If I am a carrier (not ill) of a defective CF gene, have both of my parents to be carriers in order to give it to me or is it sufficient, if only one of my parents is a carrier? Many thanks for your answer.
26.05.2017
Correctors and specifical effects
Hello, I have a quite specific and probably detailed/scientific question: correctors like Orkambi or also the following models VX-661 etc. change also the salt content of the sweat etc, everything is regulated. Has this also an effect of the specific smelling of a human, means his pheromones and therefore his effect on his fellows? Or are the pheromones of each human unchangable and also not really detectable and the concentrations of others, smelling ones, like e.g. changed sweat does not influence this? Many thanks
26.05.2017
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