ecorn-cf: App. question list

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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

Sweat test borderline?: Hello, yesterday we have been with our daughter at a center spezialized in pulmonology, as asthma was suspected. However, as she has again and again vomited mucus in the mornings, they performed a sweat test. The value was 52 mval/l. The physician said, the value was normal, however our pediatrician said, it was borderline and recommends another sweat test. What is true now? What do you recommend? She is healthy, does not take drugs and the sweat has been collected for about 30 minutes. Best regards,; 28.02.2014

Medical interruption of pregnancy / cystic fibrosis: Hello, I am at present in the 7th month of pregnany. The baby has just been diagnosed with cystic fibrosis. I would like to know if it is possible to practice a medical interruption of pregnancy.; 27.02.2014

F508del+L206W mutations: Hello, we transmitted to our daughter the F508del and L206W mutations. She is one month old today and has already a severe gut disease (very short small intestine after a meconium ileus). The L206W mutation seems rare in France. What grade of severity of lung disease have similar compound heterozygous patients worldwide? Thanks you for your answer (support).; 27.02.2014

Product for household maintenance: Hello, I’d like to ask you what’s the best between alkali and bleach to wash floors at home, knowing that I use bleach now. Thank you for your answer.; 27.02.2014

Impairment of ventilation: At a routine x-ray in december an impairment of ventilation on the right side of the lung has been found in my 2.5-year-old daughter. She had been given an antibiotic, jumped a lot and inhaled a lot, because she had an underlying infection. Now, after about 6 weeks, a control x-ray had been done, the impairment of ventilation is still there. 2 therapeutic possibilities have been discussed: 1. bronchoscopy with rinsing of the affected side, 2. inhalation with Pulmozyme® (until now 2 ml Mucoclear® 3% (hypertonic saline) with 5 drops of salbutamol), These alternatives will be discussed next week by the CF team and we will be informed about the decision. Now my question here, what is the more reasonable approach in your opinion? Are there any other alternatives how one could try to get rid of the impariment of ventilation? Is Pulmozyme® be paid by all (also private ones) insurances at that age? Many thanks!; 24.02.2014

Ultrasonic tooth brush?: Dear expert team, our son (15) has constantly tenacious dental plaque. The dentist recommended an electirc ultrasonic toothbrush to him. Are there any concerns about this, can one eventually use it with boiled or sterile water? Many thanks in advance for your advice.; 24.02.2014