Topics

Willebrand disease and CF prenatal diagnosis
Hello, my partner is a carrier of a CF gene mutation, so we made an test for me and I am unfortunately also carrier of the gene. We were explained the risk is 1/4 chance of having a child with CF and the possibility of diagnosis at 11 weeks of pregnancy. The problem is I have got also Willebrand disease at no higher rate. Is it consistent with this diagnosis at 11 weeks ?
03.11.2014
Follow-up on question_sweat test
In following up on my last question (33 week-old preterm baby) I would like to let you know that the first IRT value at birth was 30 with 117 maximum value and 13 days later 52 with 90 to be the limit. We do have an older child at home (3 years old), but it does not attend a kindergarten, but he had a cold at some point recently. The pediatrician thinks that CF in very unlikely, but because the illness was rather long she would like us to do the sweat test. The baby’s stool in normal and its sweat is not salty. I would like to stress that now when the weather is good, the baby is well and only has a permanent nose congestion. It has gained 500 gr in 28 days, something that has pleased the pediatrician. We are upset about the idea of the test.
03.11.2014
G542X mutation
I am 19 years old, have CF and carry the mutation G542X. I read and hear about a medication that will be commercially available the coming years for the radical cure of the disease. Is this medicine available to purchase? If not, do you know what state it is in?
03.11.2014
Vaccination
Can influenza and antipneumococcal vaccination be realized the same day in an adult patient?
03.11.2014
Does infertility of CF men change?
Dear expert team, CF men are in 98% of cases infertile, this is what I read. What is the reason for this? Can the infertility change? I myself got tested 10 years ago at a specialist for urology with the result, that I was infertile. As my girl-friend (non CF) does not use a contraceptive coil anymore: do I have to do a testing at the urologist again? We are both in the mid 30ties and do not want a child. Many thanks in advance for the answer and help, M.
03.11.2014
AQADEKs
Hello, We are from Bulgaria and there are no CF centers. I would like to ask a question about the intake of combination drug preparations, for example AQADEKs. As in the country different things are recommended. Shall I accept?
03.11.2014
Mutation delta f508/2789+5g a
My daughter has an atypical form of CF with the mutations delta F508 / 2789+5G>A. Do you have any experience with the mutation? What does atypical mean?
03.11.2014
FEV1 value
Hello, I (CF, 39-years-old) would like to know up to which value the FEV1 value is in the normal range. My FEV1 value is at the 50% mark. Regards, E.
03.11.2014
Do CF patients sweat more?
Dear expert team, do CF patients sweat demonstrably more than healthy people or is this just a subjective feeling? Many thanks for your answer.
03.11.2014
R1162X and Q1035X
Hello dear expert team, recently, the mutations R1162X and Q1035X have been detected in my genetic material. Could you please answer the following questions about this combination: - Is there a prognosis concerning the course of the illness? - How is the frequency of both mutations respectively of this combination? - Is there anything in sight for these mutations concerning research and new therapeutic options? Many thanks and best regards,
03.11.2014
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