Topics

Mutation
Hello, I am 35, I have been diagnosed since January 2010 (at 33 y.0.). I have always had stable respiratory problems (bronchiectasis). As I got worse in 2009, I was tested. I was found F508del/A1025D. I only have a rather stable respiratory disease (3-4 oral antibiotic courses a year because of MRSA), but severe fatigue prevents me from working. Do you know this association? Thank you for your response.
25.06.2012
CF related diabetes (CFRD)
Is there something a patient can do to prevent or slow down the onset of CFRD.
25.06.2012
mutation
Hello, My 3 years old son has these 2 mutations: 1811+1.6kbA>G and G542X. What do you know about these mutations and their association? Thanks.
25.06.2012
pools with demineralised saltwater
Hi we are going to a resort in turkey and they advertise that they are environmentally correct and don't use drinking water in their pools. the water in their pools are sea water which is demineralised (a bit of the salt is removed). its a newly restored hotel 4 star my concern is the safety of such pools using sea water we dont want pseudomonas in our daughters lungs again. J.
25.06.2012
CF
What is the life expectancy of a baby diagnosed with CF in Canada?
25.06.2012
information on the 2373del8 mutation
Hello, My son has 2 mutations: 2373del8 (c.2241_2248delGATACTGC) and F508del He is pancreatic insufficient but his tests and growth show that he correctly absorb the lipids. He doesn’t take any pancreatic enzyme. He does not have any gut disorder. Our CF center does not explain this particularity, could you tell me more about the first rare mutation (I don’t find any information on the database) ? Thank you for your answer
25.06.2012
genetic therapy
Hello, I wanted to have news about research on gene therapy
25.06.2012
Query about the coverage of the cost of drugs
The pharmacist, from whom i get the drugs for my child all these years, has informed me that I have to pay the drugs in advance, deposit the invoices and get my money back after several months. I cannot afford to pay this kind of money every month. What can I do if I need tadim® (colistimethate sodium powder) for my child (315 euros x 2 every month). My social security is OGA
25.06.2012
complete genetic test_pancreas divisum
[coordinators comment: the Q/A presented here is a summary of 3 questions from the same parent; we had a fourth former question from this parent, where in the answer the probability of suffering from CF/CFTR-related disorder or being healthy carrier was discussed in detail. This Q/A can be found under the following link: http://ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=1618&tx_expertadvice_pi1[search]=uncertain%20cystic] I bring back a previous subject about an uncertain CF diagnosis, with a few additional informations. My daughter is 11 years old and she was diagnosed in Iasi with CF as a result of two sweat tests (the first – 68, the second - 62). These tests were made after previous fasting (no food and no water), first they collected the blood, they took the X-ray, and they evaluated the pulmonary function and after that she had to eat something and drink some water (all of that happening in maximum 30 minutes). From what I know, the patient must be hydrated for this test. This fall we got, by chance, at Grigore Alexandrescu Hostpital in Bucharest, where she repeated the test using the pilocarpine ionotophoresis method. I mention the fact that the device and method differed from those used in Iasi: they collected the sweat in a small tube and they weighed it and the result was 42. The MRI revealed pancreas divisum and the lungs are fine for the moment (until now she only had rare and mild colds). The doctors in Bucharest infirmed the CF diagnosis. The screening test for mutations revealed polimorphism of IVS8-5T- allele [coordinator put in this information from a former question: intron 8 poly-T-TG: 5T-11TG/7T-11TG]. We payed the complete sequencing CFTR test, performed by PCR, bidirectional sequencing, MLPA. The people at the laboratory we contacted said they are doing the CFTR gene sequencing and this covers 98% of mutations. The tests did not detect any mutations in the CFTR gene, just polymorphisms without clinical relevance, the conclusion was that is unlikely the child has cystic fibrosis. Please advise me what to do in the future about the Pulmozyme? Is it necessary? I remember you that pancreas divisum was diagnosed by MRI. I understand that she should continue the treatment for pancreatic disease but I am confused about Pulmozyme. She did not have any pulmonary disease. Thank you very much for your understanding and patience.
25.06.2012
chronic diarrhea in a 1 year 6 months child
Hello, My son is 1.5 years old and he has many stools (1-2, max 3 per day but this is very rarely) about 6 months. What tests should I make for the diagnosis? I mention that bacteriological examinations were negative. Often chlamydospores of Candida occured in the stool. Stool aspect is pasty brown.
25.06.2012
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