ecorn-cf: App. question list

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Duct heating system?: Does anyone know if this type of heating system is a threat to those with C.F.?; 24.03.2014

hot tubs, jacuzzi, spa baths: Could I get recent publications/research on the use of hot tubs etc for cf teenagers please?; 24.03.2014

CF diagnostics: My 3 and half old son suffer of often breathing infects and long lasting cough.Usually dry cough time to time moist cough. Is possible to have CF when he went through a neonatal screening on CF in 2010 and chlorid swap test two years ago?. Both with negative results.our doctor advices to do chlorid test again. The result of the test was 20. Thanks; 24.03.2014

CF in blood work but no symptoms: About 12 years ago it was found that i had full blown CF according to my bloods but i've never had any symptoms - this was found as i was trying to do egg donation. I am now wondering if this is common or whether it is rare and somebody may be interested in it? Both my parents were then tested and found to be carriers obvioulsy. My brother has not been tested. Many thanks V.; 24.03.2014

DNase: I've just come back from a routine clinic and the consultant wants to put my son (aged 6) on DNase daily for evermore. Do you have any feedback about this? Or still have the feature ask the expert? Apparently they use it in the USA and Europe from 6 or younger, and they feel that lung function is improved for the long-term. Obviously this is a huge decision for me, and I don't want to make a snap decision. My son's lung function is generally good, usually has half dozen courses of antibiotics annually, and has only been admitted for IVs once when he was 2. I hope you can advise accordingly on how evorn-cf feels about it.; 24.03.2014

Aquagenic Wrinkling of Palms: My daughter (5 y.o.; F508del/CFTR dele2,3) seems to have Aquagenic wrinkling of Palms. What does this condition mean? IS it somehow dangerous? Should it be treated?; 24.03.2014

F508del+L206W mutations (suite): Hello, thank you very much for your answer and your support. During pregnancy, Cystic fibrosis had been suspected prenatally in our daughter (and confirmed one week after her birth), she is since then followed by one CF doctor-pediatrician. We had a first disappointing contact with a geneticist (he had made no research on the L206W mutation). We thus requested another interview with one of his colleagues, more interested in the subject. We have of course other questions, if you would like to answer it: is it possible to know the average age of the compound heterozygous patients as our daughter, if there are patients also suffering from a very short small intestine (32cm after operation at 33 weeks), and if the L206W mutation is more frequent in a certain country (Canada maybe?). We understood well that there was necessarily no correlation between the genotype and the phenotype, and that the perspectives of every "sick person" depend on multiple factors (that no "prognosis" is possible, and that the case of our baby is severe). Having said that, we notice that every answer brought to our question calms us, and thus allows us to accompany her a little more serenely. Thank you again for your first answer (and for its rapidity) Best regards,; 24.03.2014

Again question about sweat test: Dear Doctor, I have reported a few days ago that my daughter had a pathological sweat test. You recommended a sweat test on both arms. Yesterday we have been at a CF center. A new test has been performed, however only at one arm. New value 25 mmol. Therefore normal. However, there I haven't had a talk to a physician, a nurse sent us home then, as the test had been negative. However, I am still not calmed. My daughter vomits mucus for about 2 years now, in large amounts, the last time was yesterday evening, just out of a clear sky. She is totally phlegmy, even if she has not an infection and that since she was 3 years old. She has bronchitis at least 3-4 times a year. Also her stool is so mushy. She has nasal polyps and snores heavily. However, nobody is taking this for serious. Or am I overreacting? I would like to get her investigated again, I just feel that something is wrong with her. What would you recommend to us? Best regards,; 24.03.2014

Classification of the illness possible? What to do?: Hello, many thanks for your help in advance! Please tell me, how I have to react to the following conditions in order to find out, if I suffer from CF and what I can do in order to impede the development of further clinical symptoms: Age: 36, male, in the frame of a genetic investigation at a center for reproductive medicine, genetic defects have been detected (before hypozoospermia in the history, diagnostics for infertility in case of CFTR-related disease). Bronchial Asthma, allergic rhinoconjunctivitis, chronic sinusitis, delta F508 heterozygous, >>> exon 1-27:genotype: c.(1521_1523del) (;) (3080T>C), furthermore protein level: p.(Phe508del) (;) (lle1027Thr), actually normal lung function, exclusion of exocrine insufficiency, ultrasound of the upper abdomen normal, vitamin D deficiency, sweat test 1 in the control area with chloride 42, sodium 67 mmol/l, sweat test 2 positive with chloride 61, sodium 81 mmol/l. Please tell me first of all, if the 2nd defect, that has been found at the complete gene sequencing, is known and what the consequences could be. Thank you!; 28.02.2014