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CF carrier with DIGESTIVE ISSUES?! (Delta F508 mutation)

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Posted 10/10/2011 5:58 PM (GMT 0)

 I am 23 years old and I just found out I have the Delta F508 mutation. I have a brother that is 21 years old and was diagnosed with Cystic Fibrosis as a baby. Since I can remember I have had digestive problems. I have been to a number of doctors and no one can seem to tell me what the problem is. I was given a sweat test about 6 years ago to see if I had CF and it came back negitive. Recently I decided to get a genetic test and they found the Delta F508 mutation. I am wondering if this has anything to do with my abnormal digestive system, which seems to be getting worse as the years pass. I have problems with bloating after anything I eat, I can bloat up to 10 pounds in a matter of 24 hours. I have tried to go off specific foods but nothing in particular seems to trigger the bloating. I was off gluten for 2 years and didnt see much of a difference when I began to eat normally again. I also have constint issues with diarrhea (between 4-8 times a week). I have extreme cramping, especially around my period (1 week before and 1 week after). I have never had lung issues or breathing but I seem to have every symptom that my brother has when it comes to my digestion.

Has anyone heard of people with the F508 mutation having digestive problems? Could this mutation possibly be causing something other than CF? I read a little about Crohns Disease and the connection with the mutation but I wasnt sure. Could anyone suggest a type of doctor to see? I was going to make an appointment at the Adult CF clinic but I wasnt sure if they would be able to treat me since I technically don't have Cystic Fibrosis. Also, could anyone reccomend other tests I could have done to try to pin point this problem? Any help would be so greatly appreciated! Thank you!

Post Edited (SavannahRemington) : 11/21/2011 8:15:25 AM (GMT-7)

Posted 11/6/2011 3:09 PM (GMT 0)
Hi Savannah,

I can't give you any definitive answers, but do have a story slightly in common. My little girl had a newborn screening test that showed she was heterozygous for deltaF508. Her sweat test was negative and we were told she was just a carrier of cystic fibrosis. Since birth, she has had a raft of digestive problems: reflux, bloating, constipation when she started solid foods, constant gas, and colicky pains after eating. She has always been interested in food but does not seem to be able to eat much at once; now her appetite is not so good. When she started solid foods at six months she became very constipated. In the six months following that, she went from the 50th percentile to below the 1st percentile for weight, and was diagnosed with failure to thrive. She is now in hospital. Because tests have not showed anything remarkable, the doctors are tending to think that her poor weight gain is due to behavioural issues/social issues and possibly reflux. I asked them if they could explain why she was always gassy with a distended abdomen, and they said they would do a stool test for reducing substances. I think this can pick up the presence of undigested sugars, such as lactose- you may well have already had it done.


I hope you get some answers soon. A gastroenterologist would be the person to ask about digestive stuff. I don't know if you've already pursued this line, but it might also be worth having an ultrasound to check that your reproductive system isn't contributing to the bloating with endometriosis or cysts.
Posted Yesterday 9:13 PM (GMT 0)
digestive problems and cf runs in our family, I've found out that cramps and diarrhea (thats gotten progressive worse) is caused by 2 types of foods beyond wheat gluetin (which I dont have a problem), but do have a problem with anything containing milk products or a derivative (for which you can take GNC milk digestant enzymes). The other problem I've identified is eating anything with food dyes (yellow 5, blue 1, red 40 etc.) which nothing helps but reading the labels of everything before you eat it, and if you're not sure, or it's definitely colored, don't eat it. My brother has bloating/beltching but I thing he takes an over the counter product last I heard. FYI I used to take 1/2 doz tablets for pizza or ice cream in my 20's, now in my 50's it's 40-45 tablets for the same effect. If this doesn't help, I hope it points you in the right direction. By the way, I don't test for being lactose intolerant, barely reads on the scale, yet it's definitely one of my problems, proven over 30 yrs.
Posted 2/1/2012 8:38 PM (GMT 0)
Recently found out I had one mutation Delta f508.  Well for years I have had digestive issues even as a baby - gerd, hiatal hernia, severe constipation (thank god for Amitiza), esophagus stricture, pancreatic insufficiency, born didelphic - I don't know if this has anything to do with infertility.  I also lost my hearing in both ears from chronic ear and mastoid infections. But I don't think that has anything to do with it. I can only eat small meals otherwise I get gas, bloating/betching, reflux, and feel like I ate a cow.  My gastro doctor claims that most of his patients who have pancreatitis or severe digestive issues have at least one mutation bearing Delta F508.  My lungs do not bother me.
Posted 11/18/2014 9:26 PM (GMT 0)
Hi Savanna,

My case is a bit different, but might be useful.
I have delta f508x2. My sweat chloride test was positive, but did not show any signs of illness until I was 10 or 20. At that time, my only symptom was digestive problems. I started taking digestive enzymes which helped considerably. A few years later, I started developing lung problems. I was never a very active person, so the lung problems got worse somewhat quickly. Looking back, if I had aggressively attacked physical fitness like I should have, my lung functions would be so much better today. I am now almost 56. My pulmonary function tests show I am at 60% of predicted; which isn't intolerable, but could be better. Life is good and I am about to retire and enjoy more life than I can handle! Lol
There are a lot of different mutations and combinations, you might be one of them. Some don't show symptoms until they are in their 60s. Whatever it is, stay active...it will definitely benefit you in the future.
Posted 11/18/2014 9:29 PM (GMT 0)
I should have proof read my post...I was about 19 or 20 when I started having digestive issues (only symptom).
Posted 4/8/2015 5:41 PM (GMT 0)
G542X carrier here, and I've also had digestive problems for pretty much my entire life. Nothing too debilitating, but problems none the less. I've been looking at research on this, and will post links when I'm at a computer.
Posted 9/23/2017 6:24 PM (GMT 0)
Very interesting. My daughter has CF F508. I have UC, connection maybe?
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