Topics

F508del+R553X
Dear expert team, my daughter (now 12 weeks old) was diagnosed with CF at 6 weeks. The gene test showed the following mutations: F508del and R553X. Even though I am aware that progression can vary significantly, I would still like to get some further information on these mutations. I read that F508del usually causes rather severe lung symptoms, whereas R553X is supposed to have a less serious impact but to cause problems with liver function. Is this information correct? And can we hope that progression will be milder if “only” one serious mutation was found? Many thanks for your answer!
03.11.2011
CF camps
Why are CF camps no longer allowed? You can catch pseudomonas bacteria from other people (non CF) as well, isn’t it? Also, I can’t find clear (general) ‘conduct’ rules for people with CF. Do you know where I can find them?
31.10.2011
Further testing for rare mutations?
My partner is 35+ years old and is 21 week pregnant at our second child. After amniocentesis it was found that the fetus is a carrier of the DF508 mutation. Both I and my partner were tested for CF mutations. My wife is a carrier of the DF 508 mutation, but I do not carry a traceable mutation of the CF gene. However, I was offered the option to do further tests, that only became available to the lab this last month. These tests can trace rare mutations (5%). Can I benefit from this testing? What will the results of this testing mean for our 21 weeks old fetus?
31.10.2011
adolescence and cystic fibrosis
how can I help my 13 year old daughter while respecting her personality and her desire for independence. I am divorced and I live 450 km from her and I do not see often thank you for your help
31.10.2011
Testing of eldest child
My second child has CF. Is there a chance that my eldest child has it too? It is 10 years old now and we visit the pediatrician just for vaccinations. Up to what age may CF be manifested? Should I do a sweat test to my eldest child? If it is a carrier, can I find this out easily? Is there a chance that frequent headaches are related to CF?
31.10.2011
CF mutation
Hello, I am 31 years old. In line with a clarification test if I am fertile or not a genetic analysis was done. Result: Evidence of the mutation f508del and r117h heterozygous. Suspicion of CBAVD [Congenital Bilateral Absence of the Vas Deferens]. Testicular biopsy in a few days. 1) Has this gene mutation further effects on my health status and my life expectancy? 2) Is it possible that this mutation has effects on spermiogenesis? Or is CBAVD the only limitation? Many thanks.
27.10.2011
Rotavirus infection without symptoms
Hello, our son (three years old, in kindergarten since August), has been having rotaviruses for at least three weeks now. It was a chance finding -- the actual reasons for the exam were loss of appetite, abdominal pain and floating stools. He does not show the typical rotavirus symptoms. Is this in any way connected to his cystic fibrosis? Is there the possibility of something like a permanent infection? What should we do? (Note: He already had a rotavirus infection as a baby at four weeks and has not been vaccinated.) Many thanks.
27.10.2011
Cat allergy?
For three years I have been living with my house cat. While on vacation in a cat-free environment for a few days recently, unfortunately I realized that my lungs immediately felt much better. Which specialist can I consult to prove or disprove this suspicion, i.e. where can I do an allergy test specifically focused on the respiratory organs? After all, I do not notice anything in the eyes or on the skin. Thanks.
27.10.2011
Disease outbreak at 41?
Hello, I am an F508 carrier, but always thought that aplasia of the regenerative organs was my only impairment. For six weeks now, I have been having a continuous cough and have been noticing a kind of “gargeling” sound in the lungs in the mornings during the first deep breaths, which then disappears. Is it really possible that the CF with its associated lung problems has gained in on me after all? Many thanks.
27.10.2011
Follow-up question M470V
http://ecorn-cf.eu/index.php?id=65&L=0&tx_expertadvice_pi1[showitem]=1410&tx_expertadvice_pi1[search]=Mutation%20V470M%20homozygous [Note from ECORN-CF team: the above link will lead you to the original question of July 21, 2011.] Dear experts, The baby was born on February 1 of this year weighing 3280 g. After 4-5 days we noticed that she had difficulty breathing. The paediatrician said this was nothing out of the ordinary in newborns. She had shortness of breath, the skin around the lips turned blue, and she gained 100 g per week at the most. On May 3, a sweat test was performed at the children’s hospital; the result was 27 mmol/l. In mid-May, the paediatricic pulmonologist prescribed her salbutamol and budesonide. At the end of May / beginning of June, the sweat test was repeated twice at Istanbul University Hospital; 62 mmol/l and 26 mmol/l. Right after this, the pancreatic elastase value in the stool was measured; the result was >500 µg/g. The result of the genetic analysis came on July 4: V470M mutation, not M470V!! If I hadn’t asked the question here, I would probably never have learned that there was a typo in the result. The genetic analyses in Turkey are probably a bit better than those in Kenia or Ethiopia. Currently, my niece is being treated at Marmara University Hospital. She keeps inhaling the above drugs. Since at 7 months she only weighs 5500 g (despite adding 5g maltrodextrin to each meal), she has been getting 4x4000 units of Creon® (pancreatin) per day for two days now, even though, with a pancreatic elastase value of >500 µg/g, there is probably no pancreatic infsufficiency? The sweat test by way of pilocarpine iontophoresis will be repeated at Marmara University Hospital next year as soon as the bureaucratic obstacles with the Turkish Ministry of Health are settled. Unfortunately I cannot say whether the results of the sweat tests done so far are reliable. On the other hand, I can say without hesitation that the genetic analyses of CF individuals are catastrophic. I would like to have a detailed genetic test done in Germany, but unfortunately I do not know how the procedure works; how, where and if at all a blood sample can be sent to Germany? Kind regards.
27.10.2011
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