My son was just born a week ago and we were informed that he has Cystic Fibrosis. His mutations are DeltaF508 and 3849+10Kbc>t. Thankfully he is doing well now and is not showing signs of anything. He has an appointment next week for the sweat test and other tests. Can anybody let me know if they have the same mutations and what they have experienced?
My infant of a week old has DeltaF508 and 3849+ 10KBC>t
- Thread starter anonymous
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i have two copies of the DeltaF508 mutation - it's actually the most common mutation amongst CF-ers. i did hear, though, that having both parents with the same mutation [as it is in my case] is extremely rare, chances of about 1 to 10,000. so i feel cool about that <img src="i/expressions/face-icon-small-smile.gif" border="0"> there isn't any evidence that particular mutations make health condition worse or better, so don't worry about that. and *hugs* <img src="i/expressions/face-icon-small-smile.gif" border="0">
I, too, have 2 copies of Delta f508. I have been told that this is a "very significant" mutation. I just don't get it... there have to be other factors that affect severity other that mutation. I'm doing pretty well (my problems appear to be mostly sinus.) I wouldn't try to predict anything based on mutation.
To the started of this thread,I have 3849+10Kbc>t and w128x, contrary to what others on this thread have written, there are different levels of disease associated with different mutations. There are 5 classes of mutation, in the case that a patient has 2 different mutations, the lesser one(less severe) reigns supreme. In my case, w128x is a class 2 (pretty bad mutation), and 3849.... is a class 5(very minor mutation), thank the lord in my case the 3849 is in control. I have normal PFT's! I do cough, but I can live my life! In your son's case, DeltaF508 is a class one mutaion(the worst), but hopefully the class 5 one will have control. I do need to point that this is not an ironclad rule, there are exceptions and this is being studied by the CF community. Have faith and take good care of your son and he will hopefully live a long healthy life. Off topic, you might want to look into starting your son on Glutathione, I am taking it currently and have been very happy.Good LuckFranky
I have two DeltaF508 which is said to be the worst, but I have actually been really healthy. I am only 19, but I have yet to be hospitalized. I have great lung capacity and CF has never gotten in the way of any phisical activity and believe me I have tried them all: running, swimming, kickboxing, dancing, waterpolo, the list goes on and on. So it seems to me that there must be another component in your genes or something besides the mutation that contributes to the severity of the disease. I say take the mutation name with a grain of salt because there is no way of knowing how your body is going to react to the disease...
You are right, but you are wrong, IMO. Each mutation has it's own charactaristic. It is NOT a pure crapshoot, if you took a survey of all the different patients and their mutations you will see a definite and finite pattern. But this is not a solid guideline, my sibling also with CF had a transplant, although she was healthy and only got sick in her 20's. Here are the classes and their presumed associated significance.Class 1 - no synthesis of CFTR Class 2 - a block in processing Class 3 - block in regulation Class 4 - altered conductance Class 5 - reduced synthesis A non CF patient would have regular synthesis. There is another factor involved and it is not known what it is.Franky
Thanks for the reassurance that I will stay fairly healthy...lol just kidding<img src="i/expressions/face-icon-small-wink.gif" border="0"> So because I have DeltaF508 I have no synthesis of CFTR at all? Interesting....do doctors have any idea or a hypothesis on what the other factor is? Do you mind if I ask how old you are? Sounds like you are pretty healthy which is awsome. Do you mind telling me your personal experience wiith glutathione because i have been looking into it, but I would like to hear from some people first hand. Thanks!
Can you at least give me a fake name 
, it is hard to know whom I am responding to.I would recommend that you look at http://www3.nbnet.nb.ca/normap/genetics.htm . There is plenty of good info about mutations there.My doc mentioned to me what the other factor might be, but at the moment it slips my mind. Ask your Doc on your next visit. I am 23 and thank the lord have not been admitted for CF related problems, I have had surgery and have been admitted for that. About the glutathione, I take 3000 mg orally and about 100 mg irrigated into the nose. The oral has been terrific, I reduced my pancrease intake from about 10 pills a day to 2! My stomach feels NORMAL, no pain etc. Irrigating it into the nose helps reduce congestion and allows me to breathe easier through the nose. I would definitely reccomend it, I have not had any problems. I have yet to try to GSH inhaled into the lungs and at this point don't plan on it.Franky
, it is hard to know whom I am responding to.I would recommend that you look at http://www3.nbnet.nb.ca/normap/genetics.htm . There is plenty of good info about mutations there.My doc mentioned to me what the other factor might be, but at the moment it slips my mind. Ask your Doc on your next visit. I am 23 and thank the lord have not been admitted for CF related problems, I have had surgery and have been admitted for that. About the glutathione, I take 3000 mg orally and about 100 mg irrigated into the nose. The oral has been terrific, I reduced my pancrease intake from about 10 pills a day to 2! My stomach feels NORMAL, no pain etc. Irrigating it into the nose helps reduce congestion and allows me to breathe easier through the nose. I would definitely reccomend it, I have not had any problems. I have yet to try to GSH inhaled into the lungs and at this point don't plan on it.FrankyFrankycould you give that address again? I tried what you put in your post, but I can't find anything for that address. It just says "we can't find......" I would really like to investigate my daughter's mutations and I can't find any info on one of them and just a bit on the other. Thanks,Andrea
That is an interesting site...wish I could understand more of it. With all the medical terms...is kind of hard. I have 2 copies of the delta F508 and know that others with the same mutations are definitely affected differently. Even when it comes to my brother and me....he is 23 with CF...I am 30. Of course....I started having alot of my problems as I got older...and he's not quite at that age yet. I also had a child...so I know that affected me tremendously also. Even our lung function is so different ...he has always had almost perfect fevs...u could not tell he had CF by that....I on the other hand have never been over 80%. Right now I am at 72% ...which is still great...but I know it has gone down as I have aged. Anyway...just hard to imagine how differently it affects us all. Thanks for the site address...Dea
A ha! I got it to work that time!!!!! Rachel's Mutations are G551D and 1898+1G>A (I get confused about the < or> signs, I might have that wrong) As I understand it the G551D mutation is associated with pancreatic insufficiency- quite true of Rachel. It is also associated, I think with German and Eastern European descent ( That would be my hubby's side) I can't find much info on the other mutation though. If anyone knows about this one could you let me know? Thanks!My sister in law is being tested to se if she is a carrier, so if she is, I will know what mutation comes from my side and what one comes from my hubby's side.Andrea
serendipity730
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Hi! I am a 21 yr old w/CF. I have the delta f508 mutation. My CF is mild-moderate, but I require a lot of "upkeep." I'm in the hospital 2-3 times a year, etc. Pft's are in the 70's though, so that's nothing to sneeze at. Anyhow, I am also an undergrad student in biology, and one of my texts discusses the delta F508 mutation. It says that "CF patients who are homozygous (have two copies) for delta F508 completely lack the CFTR chloride channel..." Just for the record, Mary
Hi Franky,Rachel is well. she hasn't really been sick much in the past three years. If someone had asked me if Rachel's CF was severe in her first 2 years of life I would have said "Yes, very severe". She was in and out of the hospital a lot. Now things have calmed down and she hasn't been in the hospital since a week before her 2nd birthday. She turned five 2 weeks ago and the worst thing we have battled has been a few minor colds. No home IV anti's for 3 years............. Now I might say she is mild but, I son't want to tempt fate! After posting I went on the 'sickkids' site- I could have given it to you! I have had it for a long time but I hadn't ben on it for a while and it has changed quite a bit. I found out that the one mutation that I thought was eastern European is actuallyNorthern & central european (still fits for my hubby but maybe me too) and the other one is Welsh. neither of us is Welsh though so, go figure...... In one of my groups we are having the discussion as to wether it is ok to say mild, moderate or severe, maybe we should be using the classes instead of saying mild or whatever.No we are not using GSH now, since Rachel has been so well it seems unnecesary. Her doc (who is pretty open to alt meds) doesn't want her on it yet. I did look into it and even contacted the Utah Valley Institute but ultimately, I felt that we weren't ready for it yet. I have heard that many people relly find it a huge help. Our main thing is Rachel's lack of desire to eat, but that is another story altogether! AndreaFeel free to check out our site http://groups.msn.com/TeamRachelJane