Topics

Heterozygous F508del/2789+5G>A
Hello, I am 56 years old and CF compound heterozygous F508del / 2789 + 5G> A. I read several foreign sites that ivacaftor was prescribed to patients with the same mutations than me, with results that seem spectacular. My pancreas hardly works, but being still pre-diabetic I try to save the few that still works !! Also thank you for getting more information and telling me if this medication applies for my second mutation in different countries, and also how to try to save some of my pancreas, if I can take this drug in France with derogation if needed and if no contra-indications! The time is particularly counted, my pancreas will be completely destroyed before the other medications do exist, it is clear. And to be quite diabetic is harder to live than what I already know. Thank you for understanding. Also instructive reading for all those who help us much. Regards.
05.08.2015
Research and mutation c.489+1G>T
Hello, I wonder if there are many people homozygous for the mutation c.489 + 1G> T (621 + 1G> T) and what about therapeutic or research, is there hope in this case?
05.08.2015
F508del Heterozygous
Hello, I read this article very encouraging: http://www.news-medical.net/news/20150519/Two-drug-combination-improves-lung-function-in-some-cystic-fibrosis-patients.aspx But for heterozygous F508del, do not we say that if we correct a mutation, we "cure" the disease ?? So, those who have at least one F508del mutation, they are not as concerned ?? In advance thank you for your reply Best Regards
05.08.2015
H199Y mutation
Hello, my daughter born in 1995 has a H199Y mutation not listed in one of the four mutation classes (confirmed by doctor and scientist of the French CF association). How is this possible and how to know in this case if one of the latest treatments and future developments will be of concern? Thank you.
05.08.2015
Pseudomonas aeruginosa and colloidal siver
Hello, Will it be beneficial to use colloidal silver as an adjunct to antibiotic treatment for a 4y child ?
05.08.2015
Carrier of a rare mutation
Hello, Following a family tragedy (the death of my nephew at one month of life because of a rare and serious cystic fibrosis. My sister and her spouse are carriers of a rare gene...). For myself I conducted genetic tests. It turns out that I'm carrying, like my elder sister, a CF gene (which is not part of the classic 80% mutations of the test used in our country). My husband did the test: he is not carrying a classic mutation either. We already have a son who is well but what about the next pregnancy? Is there anything we can do to ensure that this kind of tragedy does not happen (in case my spouse would be carrying a rare mutation like my brother in law)? I was told of further ultrasounds ... Is it possible to make a complete genome study ?
05.08.2015
P5L
Hello, I have a child with N1303K mutations and P5L, he is 2 years and so far has no symptoms of the disease. Have you heard about this rare mutation P5L? Thank You
05.08.2015
Symptoms of rare mutations in our baby
My husband and I are both carriers of a CF mutation and I'm pregnant. We were told, there is a 25% chance that our baby could inherit our two mutations and we want to know what symptoms the child may have if this is the case. My F508del mutation is common (with R668C variant, which should not be significant) but my husband is carrying a F834L mutation. We consulted the CFTR2 but we did not find any information about this change even if we read a case in ancient CFTR2 files of a woman with this mutation who had pancreatic insufficiency, respiratory problems and a dubious sweat test. This patient had F834L in conjunction with a different mutation from that I carry. Using two predictive computer programs, the results were very different: the first predicted that there would be a simple variant / polymorphism while the second predicted there would be a "possibility of damage" with a score of 0.09 on a 0-0.10 scale, 0.10 being the most serious. Since we have had difficulty in finding information about the F834L mutation, which is the rarest, I would like to know if you've met on your journey / experience or if you can predict the kind of symptoms that could cause the F508del. Thank you in advance
01.08.2015
Aquagenic wrinkling of palms
Hi, I'm dermatologist A 20-year-old girl comes to consult me: she has been experiencing a typical 10 days clearly an aquagenic wrinkling of palms (I did the test and have well observed characteristic changes of her palms...). No personnal history of CF. Do I still worry her and have her making a CFTR gene mutation research? The articles describe this anomaly more often in CF patients and are not clear for non CF patients. Thank you for your response.
01.08.2015
Gene therapy: GL67A
Hello, The results published in The Lancet Respiratory Medicine by British researchers are positive although modest ... and this news delights us! Could you tell me if, contrary to the protein therapy, gene therapy would be beneficial for all patients or the type of mutation also will affect the outcome? Also, do you know which mutations were carried by the patients who tested the GL67A ? Thank you in advance for your reply.
01.08.2015
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