ecorn-cf: App. question list

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G542X: My child has cystic fibrosis with the p.G542X and c.4375-2A> C mutations. Are both mutated alleles expressed in cells or does one dominate the other mutation? Please, what is the clinical expression of this combination in the medical database if available? Thank you in advance for your reply.; 07.01.2014

Pulmozyme® for children under 5 years of age?: Hello, the treating physician at our CF center put the intake of Pulmozyme® (rh-DNAse) up for debate. Our son is 3.5 years old and got rather incidentally the diagnosis of CF. He has been admitted to hospital due to complaints of asthma and bad oxygen saturation after an infection and at time of discharge a sweat test had been done routinely. This was then positive at both controls. As our son is according to the physicians rahter an untypical case of a child with CF as he is well nourished and developed and shows few symptoms that point at CF. Only now, after the sweat test the puzzle gets together. Is there any experience with children under the age of 5 who have been treated sucessfully with Pulmozyme®? Are there any studies about Pulmozyme® that can be read? Thank you; 07.01.2014

Delta F 508: Thank you in advance for giving us the latest positive or negative but true results on combined VX 770 and VX 809 clinical trials for example as we read everything and its opposite. It would be good to have regular news because for us, sick or close to sick people with CF, it is the little light that grows for a hope for cure finally. Again thank you; 01.01.2014

Query: I would like your opinion about my baby. He is 9 months old and weighs 9.6 kg and is 71 cm tall. Since a month ago he has wet cough. My pediatrician said it was just a viral infection. He administered mucosolvan® (substance: ambroxol to losen the mucus) and spiropent® (substance: clenbuterol, a beta-2 mimetics to widen the bronchi) but without any result. Afterwards he administered xozal® (substance: levoceterizine, an antihistamine for reducing allergic symptoms) and protagol but still the baby has this wet cough. He eats very well but I am afraid about him having CF. My husband was tested for 80% of the CF mutations with negative results and the IRT test done at the baby after it was born was negative as well. I am still afraid. What is your opinion?; 30.12.2013

CF diagnosis in adulthood: Dear, I recently got the diagnosis of CF at the age of 25. After performing a sweat test (result: gray area) and a DNA test, I seem to be genetically homozygous F508del. With this form you would expect serious complaints. Given the late diagnosis, I only suffer from mild CF. Here is my question: is it possible to have a mild form of CF even if a genetically severe form is expected? And how can this be explained? Thank you; 23.12.2013

till what can you speak about: I am 48 years old and know since last August that I suffer from CF, 5T/9T heterozygous and F508del heterozygous. Before that period, I had according to several pulmonologists, COPD GOLD class IV. Since 2003 I go to pulmonologists. My FEV1 was 2.36 L (59 %), saturation at rest 94%, 79% at max effort. Also a sweat test has been done because I have a son with CF. The result of this was: Cl 77mmol / l Na 96mmol / l. in October 2012 my FEV1 was 0.71 l (19 %) and my saturation 87%, 78% after little effort. I've lost 8KG I the last 3 years. Since August I noticed that my stool was greasy. (so this explains the weight loss). I am very short of breath for the moment. I suffer from a lot of very sticky mucus in the lungs (my lungs are filled with sticky mucus, therefore a much too low FEV1). I have a hernia, rectumprolaps and regularly torn muscles in the chest because of the caughing. I’ve been to the pulmonologist on October 1st. The saturation at rest was 77%, he said if I weren’t a “normal person”, I should be hospitalized immediately. I also suffer from clubbing since I was 3 years old. According to medical information on mutations I suffer from a "mild form of CF”. What does "mild" mean in this case ? (I think the doctors will therefore assume that the symptoms are less severe than those who suffer from "classic" CF) .; 23.12.2013

IVF (in-vitro fertilization): First question: my boyfriend has cystic fibrosis and works in a cold room to prepare orders. Should he avoid this or not? Second question: we will need IVF because my boyfriend has cystic fibrosis. Is this supported in relation to the disease or not? I saw on websites that we need 2 years of living together, if not, it’s not covered by social security, and we must then pay. But it’s only for people without illness? Because of CF, is the coverage included with the disease? I do not know if I explained well ... And about IVF: between the paper from starting IVF, and then find out the results: how long must we wait?; 23.12.2013

Indirect contamination: Hello, We know that people with CF should be very careful about the transmissions of winter viruses and other bacteria. If you kiss someone who just kissed (or simply rubbed shoulders) a sick person (seasonal flu, sore throat, gastroenteritis ...) is there a risk of being contaminated through this third party? Cordially.; 23.12.2013

Blood pressure and heart rate in children with cystic fibrosis: Hello Can cystic fibrosis cause problems of blood pressure and / or elevated heart rate in CF adolescents (110 beats / min, he is 14 years old)? Are the two related? If so, would there be a link between cause and effect? Early infection or something else? Thank you very much in advance for your reply and thank you for all the time you spend for us. Yours.; 23.12.2013