I have been battling Pancreatitis since November of 08. All of my doctors have told me that I do not exhibit classic symptoms of Pancreatitis, but due to high Lipase levels and the amount of pain I have had, they call it that. They have found a small benign tumor on my pancreas that was removed, but really show no inflamation or abnormalities on the MRI scans. Last week my genetic testing came back and I am in fact "at least a carrier of CF". My GI doc is now determining that my pancreatic problems are chronic, due to the CF mutation. Does this mean I HAVE CF, or can just being a carrier cause this. Could this also be the reason I feel so lethargic, achy, and wear out fast doing just normal day to day activities? If anyone could shed some light on this I would be greatly appreciative.
Thanks
Kevin
Thanks
Kevin
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Hi Kevin: When there is any gentetic problems the carrier is just that, a carrier. You might show SOME signs of it later on in life, but that is it. MANY doctors and specialists belive that all of this genetic testing, could lead to HUGE problems, with the person getting "symptoms" when there aren't any! With insurance companies refusing you coverage, due to the "Chances" of you getting an illness etc. Just think of the ramifications fo all of these tests.
You feeling lethargy, achy etc, will be directly from your Pancreas. Any genetic mutation, can exasberate problems that are already there. But don't worry about CF OK!!! Just follow your doctors orders, and just get over this pancreas problem. If you eat healthy, and be healthy in your day to day, you should be just fine. I wish you all the Good luck and health!
You feeling lethargy, achy etc, will be directly from your Pancreas. Any genetic mutation, can exasberate problems that are already there. But don't worry about CF OK!!! Just follow your doctors orders, and just get over this pancreas problem. If you eat healthy, and be healthy in your day to day, you should be just fine. I wish you all the Good luck and health!
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There are more than 1200 identified possible mutations to the CFTR gene causing cystic fibrosis, but you only need one normal, functional gene to provide enough CF transmembrane conductance proteins for your secretions (mucous, sweat, pancreatic juices) to be made without complications.
The reason your doctor was able to say you are "at least a carrier" is that generally, only the most common mutation (called delta F508, which occurs in about 75% of ppl with CF) is screened for. Most of the other mutations are extremely rare and there are far too many different mutations for them all to be tested for.
So when your genes were tested for delta F508, they found you had one allele matching this mutation. Your other allele is unknown. It could be a healthy CFTR allele (therefore you're just a carrier) or it could be another rare mutation not tested for (you do have CF).
PPL with CF generally also present with salty sweat, congested respiratory systems, and the pancreatic problems you've been having could be due to a blockage in your pancreatic ducts. This failure of pancreatic enzymes to flow fluidly into your digestive tract, can lead to insufficient digestion and absorption of your food and therefore lethargy, lack of energy and bulky stools.
The reason your doctor was able to say you are "at least a carrier" is that generally, only the most common mutation (called delta F508, which occurs in about 75% of ppl with CF) is screened for. Most of the other mutations are extremely rare and there are far too many different mutations for them all to be tested for.
So when your genes were tested for delta F508, they found you had one allele matching this mutation. Your other allele is unknown. It could be a healthy CFTR allele (therefore you're just a carrier) or it could be another rare mutation not tested for (you do have CF).
PPL with CF generally also present with salty sweat, congested respiratory systems, and the pancreatic problems you've been having could be due to a blockage in your pancreatic ducts. This failure of pancreatic enzymes to flow fluidly into your digestive tract, can lead to insufficient digestion and absorption of your food and therefore lethargy, lack of energy and bulky stools.
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I beg to differ that if you have only been identified as a carrier that you do not exhibit symptoms of CF. I am a carrier, my children are carriers, my mother is a carrier, my uncle is not but, my cousin is, and we suspect that my grandfather and great grandfather (who died from respiratory failure as the result of a "coughing fit") were carriers. I beleive this because we all have sinus issues, we all have a chronic cough (which was always refered to as "the family cough"), and my mother and myself suffer from GERD. I myself choose to deal with the "cough" for the time being but, my mother has tried numerous medications to try and quiet it. She was even diagnosed at one time as having asthma. The only thing that seems to help is copeous amounts of water, mucous thinners, and antihistomines. All of which to serve to thin the mucous or stop it from forming. If anyone has any other ideas, I'm willing to listen. But, In my mind, this is a mild form of CF. I only wish that someone would acknowledge it.
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I have to agree. My sister and I suffer from chronic sinus infections. She has been told she has asthma. I have mucus that is so thick it has form and shape. Neither of us knew we were carriers until I was tested during pregnancy. I do have some relief from daily netti pots etc. I feel lethargic and yes my sweat is salty-but I thought everyone's was. Our family also has a history of diabetes which some studies have linked.
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i totally agree!!!! My daughter was tested as "just " a carrier to deltaF508
but she has all the classic symptoms of respiratory CF--small, tiny actually for her age, poor appetite, thick sticky mucus--diagnosed with "asthma" at age 7.. totally never had asthma before... un responsive to "asthma" therapies as the cough NEVER EVER goes away.. thick, loose, awful mucus non stop. Sinusitis, ear infections, pneumonia, colds, antibiotics 11 times in 2010 alone.. coincidence?? I think NOT. problem is, there is not enough research to prove this! the doctors say that a carrier's "good" CTFR gene is enough to meet the demands of the body, but what it it isn't? what if the one defective CTFR gene IS expresssing itself afterall????
but she has all the classic symptoms of respiratory CF--small, tiny actually for her age, poor appetite, thick sticky mucus--diagnosed with "asthma" at age 7.. totally never had asthma before... un responsive to "asthma" therapies as the cough NEVER EVER goes away.. thick, loose, awful mucus non stop. Sinusitis, ear infections, pneumonia, colds, antibiotics 11 times in 2010 alone.. coincidence?? I think NOT. problem is, there is not enough research to prove this! the doctors say that a carrier's "good" CTFR gene is enough to meet the demands of the body, but what it it isn't? what if the one defective CTFR gene IS expresssing itself afterall????
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Wow! I am relieved on one sense to know that our family is not the only one's dealing with this. Maybe a websight whould be started to see just how many of us there are out there. Maybe this would force the medical community to look into this. Maybe then they would develope a medication that would help alleviate the symptoms so the we no longer have to suffer needlessly. And just an update. My mother we recently put on a medication for Lung Disease to try and ease her symptoms. IT WAS BAD NEWS! I honestly thought she was dying she looked so bad. Thankfully she gave up on it and got off. She just said she'll deal with the cough. However, she was told that her lungs were scarred from the years of coughing. I'll try and find out the medication and post it. I only know that it's brand new on the market.
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This is fascinating stuff. I was just identified as a carrier. I have bronchitis and/or pneumonia 4 times a year now, I always have mucus problems that would be drainage except the mucus is so thick, and my mother and one of my daughters have constant cough issues. My daughter has so much mucus that she is spitting constantly. I am beginning to think there is a connection. Thank you all for this post.
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Wow..my sister has battled pancreatitis for 30 yrs and found out she is a carrier of Delta F508. My son does in fact have CF and now his sister at age 20 has been having alot of digestive problems over the past 2 years. Yesterday she was admitted into the hospital and recently found out she's pregnant. She has incredible pain in the upper stomach, has been vomminting for over 24 hrs and now is vommiting blood. I keep saying its her pancreas and they are saying its morning sickness. I have tried to explain the theory about CF carriers presenting with symptoms of pancreatitis and nobody will listen. The theory came from discusssing her problems with stomach issues with my sons CF drs. over the past few years. My nephew has for several years has had the same problems. My solution at this point is to find a doctor who is willing to look into this theory and treat her for what I know will be a lifetime of issues with this (like my sister has battled). The treatment is to stop all food, IV fluids, pain meds and anti nausous meds. for several days. The doctor I spoke to today had the bedside manor of a closed minded bafoon!!! Good luck to everyone and God Bless.
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I am also very glad I just happened upon this forum, it's really hard to find much info on cf carriers symptoms. I am actually going in tomorrow to have the full genetic testing to see if I am a carrier or if I have cf. My cousin passed away from cf so I do have a family history. I have had some respiritory problems over the years several bouts of broncitis a year, pnemonia, "excercise induced asthma". I also have major GI issues which is why my dr finally referred me to do the genetic counseling and testing. All of the problems I am having - such as 2 espisodes of intussusception, a partial bowel obstruction, an espisode that they said was pancreatitis based on my symptoms and my lipase being 600 but then they said maybe it wasn't pancreatitis. I've had muplitple tests, scans, probes - all of them come back with results that have small things that they are finding wrong but nothing so major that they can finally "pinpoint" the problem. Apparently my dr believes that all my symptoms are cf related. I will definately post on this site if I find anything out, it is very frustrating to feel like you're alone and no one will listen or the drs just blow you off. I will update if the cf genetic counselor has any words of wisdom.
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I too am a carrier and have chronic sinus issues and digestive problems. My father also a carrier died from pancreatic cancer and my brother had CF.
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I am sooo happy i happened to find this site!! I have had continuous questions about CF and carriers being effected also!! and Not a single doctor in my small town want to comment on it or even entertain the possiblity!! My mother passed away from cystic fibrosis when I was 9....I am now 28 and I seem like my health issues as far as bronchitis and such seem to be getting worse, i have had bronchitis 3 times in 7 months!! and yet any doctor i ask will not even speak of it with me, and yet any research i have done plainly states that carriers "DONT USUALLY" have symptoms! well, what kind of symptoms ARE there?!?! and since there are docs out there that beleive it may be a possibility, why cant we find them easier?!?!? Maybe this should be a site created on facebook "the largest online community" to reach numerous carriers with good questions and points, and to reach the doctors who are willing to bet there is a connection!!! I have a site on facebook already i dedicated to my mother, it's called Sixty-Five Roses, and it is a group, i am going to bring this up to all of them and see if anyone on there has had any similarities!!
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I believe many people have been incorrectly diagnosed and many actually have CF that were told they do not have it. Unless your sweat test was done at a major CF center, it probably was done incorrectly. My daughter did not get a positive result until she was tested in Syracuse, NY. Even her first one there was borderline because her system was so stressed, her electrolytes were depleted. She inherited the delta F508 from me, but an unidentified rare mutation from her father. My son also has CF, but has few symptoms (except he is incapable of fathering children). My middle child does not have CF, but has severe digestion problems that the two with CF do not have.
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It seems that you would have been tested for CF yourself, but unless it was done at a major CF center, I would recommend having it done again. Two of my children have CF. My niece exhibits some symptoms, but her doctor refuses to test her because he thinks she would be sicker than she is. My youngest is in excellent health at this time, even though he does have CF. So, I don't believe the severity of symptoms in an indicator of whether or not one should be tested.
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