CF & heterozygous?
Dear reader, After reading your articles on CF (thank you for that) I still have one question. I was diagnosed with F508del and R117H, heterozygous, polymorphism IVS8-Tn: 7T/9T. I am confused about the part “homozygous and heterozygous” and in what grade it can cause illness. I ...
Contraception in case of CF with diabetes
Dear expert team, I (22 years old, CF) have a few general questions, that could either not be answered satisfactorily by my gynaecologist nor by my CF-doctor. 1. Which contraceptional method is the one most suitable in case of a CF patient with induced diabetes- except condom? Also in respect ...
CBAVD G551D Mutation
During a diagnostic work-up for azoospermia I (32 years old) was diagnosed with a heterozygous G551D mutation. If this is indeed CBAVD (congenital bilateral absence of the vas deferens), shouldn’t there be a further (undetected) mutation? I have been having slight digestive problems for a year ...
Follow-up question on PID and CF
In Dr. Christina Smaczny's answer to the question "Diagnostics during pregancy, and termination" [[showitem]=2028&tx_expertadvice_pi1[search]=PID], the following passage can be found: "Due to the methodical effort involved, this procedure ...
Pregnant with CF, how is the child born
Dear expert team, I am pregnant and have CF, and would now like to know how the birth of the child will happen. Will it be born in the usual way or by cesarian section? What would be the gentler way for the mother? Many thanks in advance and kind regards.
Prenatal diagnosis
Hello, I am the mother of an 8.5 month old baby with cystic fibrosis. My husband and I would like to have other children, but we would like to know more about prenatal screening technique. We heard about a test developed at the Necker Hospital, which involves analyzing the mother's blood. Is ...
Hello, My son (27 months) carries DF508 and G542X mutations. He is doing well, we make physiotherapy 2 times a day, take vitamins, CREON, salts, etc ... Is there the possibility that his vas deferens are well developed? Are there any ongoing studies about fertility in CF patients? Thank you for ...
Diagnostics during pregnancy, and termination
Is there an option of doing diagnostics as early as possible during pregnancy so that a regular termination would be possible, or would/will it always be a late termination? In other words, does one always have to have a stillbirth, or is there any method that will provide a result early enough to ...
Getting pregnant with CF
Dear expert team, I would be interested to learn about the getting pregnant with CF. I am 24 years old and pretty stable. My FEV1 is at 70-89%, and I am 165cm tall and weigh 48kg. I have thyroid hypofunction (2.89). What about fertility? For a “normal woman,” there is a 25% chance of ...
9 years after lung transplantation: I wish to have a child!
Hello, I am 35 years old and had a lung transplantation due to CF in 2003. Now me and my partner we wish to have a child. I do not have any problems since the transplantation and not a single rejection and I am doing very, very well. My medication is: tacrolimus, MMF, cortisone 5 mg, pantoprazole ...
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