Topics

Green stool
Hello, does one have to worry if the color of the stool is greenish? I do however not have diarrhea with that. I did not eat vegetables, either. I am 27 years old.
29.04.2014
Nitric oxide therapy
Hello, are there already any news concerning the above mentioned therapeutic trial? Thanks.
29.04.2014
Pankreatin
Hello, I would be interested in your opinion about the enzyme therapy of our pancreatic insufficient son. He gets Kreon® in a dosage of 4000 untis per gram fat. However, he has often fat in the stool and gains weight awfully bad. How high can the dosage of Kreon® be? Would it make sense to test another preparation? Are there any preparations that contain additionally alkalizing substances in order to intensify the efficacy of the enzymes? Or should one give an anti-acid drug? Many thanks!
29.04.2014
mutation delF508 / R553X
My son (8 years old) suffers for years from gastrointestinal problems. For him as a CF patient, lung problems are not the main focus. He has already had an ileus 2 times (as a consequence resection of 50 cm of the gut), furthermore an exocrine pancreatic insufficiency, an enlargement of the spleen as well as a CF hepatopathy have been diagnosed. Now they recommend to us to have our son put on the list for liver transplantation. We are urgently looking for advice on his specific mutation. Are there in Germany any CF specialists, who have special knowledge about this mutations respectively about this special picture of the illness?
28.04.2014
Research on delF508 mutation
Hello It’s not the first time I ask you a question, and first of all I would really thank you for the help, the information and sometimes the comfort that you bring us through this website. I don’t want to abuse your precious time but could you resume in a few lines the research which is ongoing regarding delF508 mutation. Indeed, we heard a lot about different things, different research (and it’s great!) but all of them do not concern the delF508 mutation and I have to confess that I am confused. Is there also research for patients heterozygous for the delF508 mutation going on? At what stages are the researchers? Could we have a summary on tested molecules and their phases? Thank you in advance for your response. Best regards.
28.04.2014
Meveol®
Hello I have just read: « A new treatment against cystic fibrosis could emerge by 2016. This is a project supported by Bpifrance (bank financing and investment) who just released € 10 million for a new medical program called Alipex. Of the three companies involved in research: Alaxia, a Company from Lyon/France. The role of Alaxia in the project will be to develop the component molecules for inhalation therapy. For the moment, all clinical tests have gone very well and clinical trial for humans should be launched by the end of 2014. » Could you please tell us more regarding this announcement? A drug may it be on the market in just two years? How much credit can you give to this notification? Thank you in advance for your response.
15.04.2014
Share a room
Hello, I would like to know if my little 5 year-old boy with cystic fibrosis may exceptionally share a room with his sister or with a friend during the holidays? Thank you in advance.
15.04.2014
Swimming with Pseudomonas
Dear ladies and gentlemen, can a CF patient go swimming in a pool if he has Pseudomonas? Thanks and best regards,
15.04.2014
Disease Causing or not?
Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T 7T/9T) c.1210-12_(1210-35_?GT[10]+[11] c.1766+152T>A c.2562T>G c.2909-92G>A c.3469-65C>A c.3874-200G>A A short history is my boy screen positive due to DF508 (my 11old neice is DDF508 and my daughter is a carrier), after a sweat test at 6weeks was negative he was presumed negative. He is my fourth child and I noticed he was different straight away. He has had a cough since birth which is increasing with age. I went back to doctors after he was continually getting sick with URI and cultured Heamaphilis Influenzae. from a few months of age he had chronic diareah with tummy pains and mucus in stools. He had a continual runny or blocked nose. He was again tested and sent to CF centre. Second sweat test was negative so dismissed again. After continueing to get sick and have diareah, sinus issues I ordered a full DNA test. He has had surgery to remove his adenoids due to infection and the doctor said there was excessive mucus through his sinuses. Six weeks ago he started showing signs of protein deficiecy (edemas in his feet and constantly sleeping). He has been put on creon and is a different child. He still has his sinus issues and a constant cough but I am ensuring he receieves daily airway clearence. The results from the DNA tests says that the mutation 1716G/A (legacy name) was previously thought to be not disease causing, but is has been show to have mild CF symptoms. The genetic specialist said I will have to be a sit and wait before a diagnosis is made depending on his symptoms, therefore making a diagnosis unclear. This mutation is listed as one for the trial of Kalydeco as it has some residual function. I would have thought that if it has been listed in this trial then it must be disease causing in someone? Have you got any information on the pairing of these two mutations and if they together are disease causing?
08.04.2014
DF508 and T7, T9 polymorphism
Hello, my daughter is 7 months old and she has been diagnosed with CF when she was 2 1/2 months based on her clinical symptoms and sweat test result over 100. She is severely pancreatic insufficient with no lung implications so far. We performed genetic testing for her and it seems they detected delF508 and T7 and T9 polymorphism in her dna. I am a carrier for delF508 and no mutation has been detected for my husband. We would like to search for the other mutation as well as were told that T7 and T9 polymorphism don't mean anything in connection to her disease. Is this correct? I have been searching for info in relation to polymorphisms and it seems that they actually mean something in connection to a second cf mutation, but unfortunately I haven't been able to understand the medical terminology, therefore how they influence eachother and whether it has an impact on the disease. Could you kindly explain the relationship between delF508 and the above mentioned polymorphisms? Should we search for another mutation? Can it be that only one mutation and these polimorphisms caused her desease? Thank you, A.
08.04.2014
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