Topics

Swimming after lung transplantation
Hello, I would like to know if and when one can go swimming after a double-lung transplantation. In an outdoor swimming pool / lake / indoor swimming pool? And where is the problem in general? Thank you!
24.07.2013
Combination of mutations 5Τ/7Τ/9Τ
I have a three year old son (born premature and hospitalized for 2 weeks without respiratory problems). During my pregnancy I and my husband were checked for 36 CF mutations plus for 5T/7T/9T. I was found to be a carrier of 5T and 7T mutations and my husband of 7T and 9T (at intron 8). We were told that if the gene in people with CF were a cassette with the tape torn, in our case most of the tape would just be folded! My son generally looks healthy, but his height and weight is at the lowest growth curves, while I have observed that his sweat is very salty (compared to mine). I would like to know what kind of problems do the possible combinations of the above mutations cause, if the testing we have done so far is adequate, if there is a chance we may be carrying more mutations (I and my husband) and finally if we should choose IVF in case we want a second child. The testing was done with pcr method, what are the chances for error?
24.07.2013
contraception in cystic fibrosis
Is there a special recommended oral contraceptive in cystic fibrosis?
22.07.2013
Cystic fibrosis
DEAR EXPERT TEAM I would like to know more about the availabilty of Kalydeco® in Bulgaria and if there will be any point for someone suffering from CF with the mutations 621+1G/T, N1303K to try this medication and also if not suitable what other treatment should we look for in order to keep quality of life better? LOOKING FORWARD FOR YOUR ANSWER G. Y.
22.07.2013
Question on the genetic testing of the sibling/carrier yes or no?
Hello, we have a child with CF, as mutation deltaF508 homozygously has been detected. A genetic testing of us parents revealed, that my husband, as well as me are carriers of the deltaF508. Now a genetic testing of our second child had been initiated. CF had been excluded via sweat test. The genetic testing stated that the familial mutation in the CFTR-gene has not been detected in this child. A broader investigation testing furhter mutations in the CFTR-gene could not be justified in case of the familial constellation. Now my question: can we assume that our healthy child is either not a carrier of CF or would it be theoretically possible, that this child carries another mutation as a carrier for CF? I am very glad about an answer and thank you already in advance.
15.07.2013
Septic tank
Hello, we have a house with a septic tank so I can not put bleach every day in the lines. I want to know what can I use to disinfect instead of the bleach, everyday? Thank you
15.07.2013
Anti-reflux
Hello. We have a child who has cystic fibrosis and we would like to know if the anti-reflux medications, from a general point of view, were unsuitable for them? I'm not an expert but it seems to me that these drugs are designed with the aim to "stuff" and therefore they could harm the liquefaction? Thank you.
15.07.2013
Disease severity degree
Hello, my 2-year-old CF daughter requires since birth very intensive care. The disease leaves her no lull. Today I am very worried about her life expectancy ... What are the criteria for severity of the illness? Are there still children who die young? Thank you in advance for your answer to this dark question ...
15.07.2013
newborn with Del f508 and 5T-TG12
Hello My baby boy was screened in California and tested positive for Del F508 and 5T-TG12 variant. His initial sweat test was 20 at 5 weeks of age. Therefore, he is not classified as CF but will be monitored throughout his life. I understand his mutations can put him into a healthy or mildly sick group depending on the amount of working mRNA. Questions: 1. Are there any tests that can determine whether his combinations will affect his CFTR function? At what age? 2. At what age can we find out whether he is infertile? 3. Do all people with this combination have symptoms or some are completely healthy? How many have only infertility, and how many show lung issues? 4. What is MILD CF? How does it express? I understand this combination probably won't cause pancreatic problems, but mostly lung issues. Is that correct?
15.07.2013
Echogenic bowel
Since the 24th week of pregnancy, our unborn first child has had an echogenic bowel. After infections were ruled out, and chromosomal aberrations, bleedings and placentar insufficiency were regarded as very unlikely, we had our blood tested for any CF mutations. My husband was found to have dF508, and I R1162X. It is now week 33, the bowel is still echogenic but not dilated. How high would you presume the chances of the child not having CF to be? We are aware of the 25% chance of CF just because of our mutations, but how high is the probability of CF knowing the child has an echogenic bowel? Thank you very much!
15.07.2013
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