Guest guest Posted March 19, 2003 Report Share Posted March 19, 2003 I have been told that the more severe the mutation u have the more severe your cf will be if this is so ... I can't say I do know my son has both coppies of delta f-508 one from me one from dad and his cf is not severe . Just my notes. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 19, 2003 Report Share Posted March 19, 2003 I guess we all get overwhelmed sometimes by this beast called Cf. All that really matters is we are not hiding from it we are taking it head on AND WE WILL WIN ! I was told 8yrs ago my little boy wouldn't live to see 6 months . That was when he was 2 weeks old and had 3 surg. under his belt and was wearing a colostomy and eating through a g-tube ! Oh baby look at us now ! 8 yrs old no tube no colostomy great weight and kicking CF's BUTT ! Mutations are only a # to me. WE are gonna beat this thing ! Hugs to all. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 20, 2003 Report Share Posted March 20, 2003 Hi, the discussion about the severity of the different mutations is as old as the detection of the mutations themselves. A short (and very simplified) explanation is, that there are five different types of mutations. Type 1 is the whole group of stop mutations (those with an " X " at the end), where no CFTR protein is produced at all. Then there is the group of Type 2 mutations (where dF508 and some other common mutations do belong to), where the CFTR protein is faulty and caught and destroyed within the cell before it makes it to the cell wall. Those two groups are sometimes called " severe mutations " because they are related to pancreatic insufficiency and on average lead to a lower life expectancy. The Types 3 to 5 have more or less faulty CFTR that leads to more or less problems. And (as you can see from all us carriers) the less severe mutation overweighs the severe mutation. Hope this helps. Peace Torsten, dad of Fiona 6wcf e-mail: torstenkrafft@... SEVERE? ... > WHAT DO YOU MEAN BY THE MOST SEVERE? IM NEW TO ALL THIS AND MY SON HAS TESTED > POS. FOR ONE COPY OF D-F508, THE RARE TEST IS STILL PENDING. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 20, 2003 Report Share Posted March 20, 2003 - not to be nosey but what made them test your daughter if she was never sick? Kari Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 20, 2003 Report Share Posted March 20, 2003 There are studies ongoing to find 'modifier' genes that affect the severity of the cystic fibrosis. It is thought that there is far more than just the CF mutations that determine the severity and progression of CF. M Maja Hristozova wrote: >. . . I've heard Double DF508 is the 'most-common', but this is the first time >I'm reading that it is 'the most-severe'. > >Maia > > Quote Link to comment Share on other sites More sharing options...
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