ecorn-cf: App. question list

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Salty child = Cystic Fibrosis?: My daughter, 1 year old, tasts ever since strikingly salty. After heavy sweating, her head sometimes glitters. Are there any other illnesses or "normal people" who show this phenomenon or is that a conclusive hint for CF?; 09.01.2014

Therapy of the protein: Hello, We have learned in September by the "INSERM" (french national institute for health and medical research), about the discovery of 2 molecules acting on deltaF508 CFTR protein. What is the difference between theses 2 molecules and Vertex’s molecules (Ivacaftor® and Lumacaftor®) that are tested in combination for efficacy in a phase 3 trial for patients carrying deltaF508 mutation. Thanks; 08.01.2014

POTENTIATOR / GALAPAGOS: Hello An article published on 12/16/13 indicates that the biotechnology company Galapagos has a new drug candidate (potentiator) which will be tested in clinical trials. How much credit can you give to this notification? Have you more information? Thanks; 08.01.2014

Cat and CF Child: For brevity, my brother (7 years) has cystic fibrosis and my parents refrain to believe that having a cat in the house transmit many diseases that worsen the mutation despite hygiene precautions. I would like a professional opinion on the benefits or risks about a cat for CF patients. (PS: no family member is sick or allergic except my brother). I'm sorry to bother you and I really admire what you do for all these people. May God reward all your efforts. Thank you very much!...; 08.01.2014

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