Topics

MRSA -- follow-up question
[Background: the questioner's 19-moth-old son has CF; she is worried that her partner's grandmother might have MRSA and was asking for advice. Among other things, the expert recommended for the grandmother to have nasal and throat swabs done in order to rule out or prove MRSA.] Hello, many thanks for your answer. As for the general practitioner -- this is our problem exactly, because they [the questioner's mother in-laws] will not do it. They are letting us down completely and just smile at the whole thing. However, I am wondering: if my partner visits his mother, who spends a lot of time with the sick grandmother after all, should he do the 3x30-second hand disinfection routine too when he comes home? We do not visit with the grandmother at all anymore, but we do meet the grandfather. How dangerous can this contact be? (He always wants to stroke my son's face, which I do not allow him.) Again, many thanks for your effort.
09.09.2010
F508del mutation – other mutations possible?
Hello, A gene test my daughter had done returned homozygous F508del (codon507/508-CTT). The test report further says that the MLPA analysis did not show any hint of a deletion of the CFTR gene and that the assumed homozygosity of the above mutation (e.g. as opposed to a compound heterozygosity of F508del and a mutation at the binding site of the primer) could be done in parents' samples. My question now is: Should we have her tested for further mutations? Which consequences could that have for therapy and who should be tested for what? Parents, child? Thanks for your effort. Kind regards.
07.09.2010
Physical symptoms with mild mutation of the CFTR gene
I (male, 30 years old, central-European descent, 170cm, 71kg) have azoospermia, which was explained by evidence of a presumed compound heterozygous combination of the F508del and R117H mutations. More precisely, the statement says that “the patient is heterozygous for the IVS8-7T and the IVS8-9T allele (7T/9T; normal alleles).” I am not aware of any incidence of CF in my family so far. Thus, I live without the clinical symptoms of classic CF. Nevertheless, I have been wondering since getting this diagnosis three weeks ago whether individual aspects of my body/my health should be re-evaluated given this diagnosis, and would appreciate your advice on this. I am not interested in a diagnosis, but would like to know whether certain abnormalities could be explained at all in relation to CF. Build: minor male body hair despite normal testosterone values, slightly enlarged breasts (Tanner stage B1 on both sides, muscles relatively poorly developed). Voice: voice break not completed during puberty, granuloma on the vocal chords, vocal chords often feel throaty, my speech therapist found that my chest is often not opened optimally. Neurology: suspicion of restless leg syndrome, occasionally trembling hands without restlessness or feeling cold. Allergies: strong allergies against early-bloomers and others lead to rather exhausting constant sneezing (which fortunately can be regulated by medication). Stomach: frequent acid reflux or abdominal murmurs. I would be happy about any hints.
07.09.2010
Croup?
Hello, my 6-year-old son has been having coughs (infections) since age 1 and has to throw up mucus. The doctors said that he has croup. It is getting worse each year. Last year he had a budding pneumonia and empty-stomach vomiting, abdominal pain, and strange stool (brown-white-yellowish with yellow mucous). An MRI showed chronic polypoid pansinusitis. A suspicion of CF was raised. A sweat test we had done yesterday returned a normal value, though. My son is sweating very, very heavily, could this affect the test value? It is worst on his head, and the sweat is very salty there, but only there. Please send me an answer, none of the doctors can tell us what he has. Thanks.
07.09.2010
Genetic analysis – interpretation
Hello, our six-month-old daughter was diagnosed with CF a while ago. My husband and I have taken a gene test which returned the following result. The following molecular genetic result has been determined for our daughter: heterozygous mutations delta F508 (exon 10)  from me, and G542X (exon 11)  from my husband. What exactly does this mean for our daughter regarding 1) progression 2) potential participation in clinical trials for new drugs 3) standard therapy 4) potential future gene therapy? Does she have classic CF or a rather rare form? Many thanks for your answer.
07.09.2010
Treatment of a long-term germ colonization
I have been living with the CF diagnosis for a long time. Today, the doctors think that it is not CF but “only” COPD with bronchiectasia. I have several infections every year which are always treated with antibiotics in tablet form (for several years now mostly cefuroxime and moxifloxacin). Often an infection does not announce itself with signs of a cold but I get a fever within a few hours and an ulcerous smell from the lungs can be detected. Correspondingly, the sputum is green. Since the infect comes without any signs of a cold, I suspect that my lungs have been permanently colonized by germs which get the upper hand and are pushed back again with antibiotics. Due to this process, I worry about resistances. I actually heard about a new treatment option for long-term germ colonization of the bladder: a drug (perhaps an antibiotic?) is placed directly into the bladder and its effectiveness is altered with the help of electricity. This way, the drug can reach places that are otherwise difficult to access. My question now: Is there a similar procedure for the lungs as well? Many thanks for your answer!
07.09.2010
Place of residence
Hello, your daughter (7 months old) has CF. We would like to move from Berlin into a little house in the "countryside" (small town). The treating clinic can be reached within a half hour. Our question is aiming at the climate in the countryside, which is located at the brink of a low moor area. Are there any indications of dangers or effects such a climate could have on the disease? Other than that, we think that the air in the countryside might be better than that in the big city. Many thanks for your answer.
07.09.2010
Schuessler salts in addition to traditional medicine
Dear expert team, one always strives to do the best for one's child and against CF. Now my question: can it be reasonable to draw on naturopathic treatment in addition to traditional medicine, or will there not be a positive effect? I actually am someone who does not really believe in it, but if taking Schuessler salts would make a positive impact, for instance, one could perhaps combine the two. If you are experienced in this area, what would you recommend? Thank you for your answer. Regards.
07.09.2010
Multiple sclerosis with CF
Dear expert team, I am a female CF patient, 43 years old, and have been in a good general condition lately. After a sensation disturbance in the left side of my body (from hands to feet) the MRT showed old and new centers of inflammation in the brain. Do you know of any patients who have CF and MS? [Translator's comment: a question geared specifically at German CF centers and doctors was omitted in the translation.] Kind regards M.N.
07.09.2010
Zithromax®/azithromycin
Dear expert team, I have a question: does it make sense to administer Zithromax® three times a week? Are there any objections concerning resistances? Which side effects have to be expected? Many thanks.
07.09.2010
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