• Profile photo of NaomiNaomi
    Member
    #171205439258

    Patti:

    When I was first tested for CF mutations, in late 1990’s there were only 250 known mutations. I only tested positive for Delta F508. Since that time, many new mutations have been discovered. There are almost 2000 known mutations. Depending upon when you were tested, a new test, a FULL CF SEQUENCING, should be done.

    All testing MUST be done at an APPROVED CF CENTER by a CF SPECIALIST, not your local Doctor.

    Bill

    Profile photo of EskwaEskwa
    Member
    #171205439253

    I am also a carrier of cf. My brother died at the age of 6 32 yrs ago. He was very sick:(. This is the 1st ive heard of symptoms of cf carrier. I also have AutoimmuneThyroiditis. I have had a severe cough for over a yr. I go to er yearly to get breathing treatments. Severe broncitis they say.My thyroid disease took a turn for the better on the weight loss but i have a hard time sleeping due to cough, goiter, constantly hacking up phlegm. I think dr.s need to do less learning in school n start listening to there patients. They would learn more.We know our body!

    Profile photo of chelcisradchelcisrad
    Member
    #171205437427

    Is there some article on this CF site about the carriers symptoms..?

    H

    .
    http://uvicf.org/researchnewsite/carrierhealth/index.html

    Profile photo of BOURBONBOURBON
    Member
    #171205437413

    I carry the DF508 gene and have never had any CF-like symptoms ever. So for me, no, it’s not true.

    Profile photo of scotcfmumscotcfmum
    Member
    #171205437405

    Yes he was tested at Phoenix children’s hospital, they have an awesome cf center where my one year old goes. He has been sweat tested twice with single digit number results! Again, he has no bathroom issues, no allergies, no health issues other than he’s skinny. Our pediatrician is VERY familia with CF ( that’s why we chose him) and he said not to worry) I had discussed the pruning in the tub. My son is definitely old enough to tell me if his tummy hurts and he never says anything

    Profile photo of NaomiNaomi
    Member
    #171205437404

    Yes, he should be tested. Digestive issues (inability to process fats & protein) will give him “tummy issues”. Newborn screening is typically for the most common defects, only 32. There are almost 2000 known mutations. He has only been tested for 32. Was his sweat test done at a CF Center?

    Bill

    Profile photo of scotcfmumscotcfmum
    Member
    #171205437390

    I have three children 5,4 and 1 (crazy I know)! The one year old has CF. typical story, we had no idea it ran in either family:(. Had all three sweat tested at PCH 5 year old # was 12! 4 year old # was 17!, 1 yr old was#87:(. My question now has always been about my oldest; he has never even had a cold, no digestive issues, but he is tiny! He is a picky eater. As a baby he was in the 50% and since then dwindles in between 7-3 %. And u put him in the bath and he is instantly a prune AND I MEAN A GROSS PRUNE. He doesn’t taste salty, no allergies or asthma. I’ve asked the clinic and they keep saying no since he was screened at birth and sweat tested. Now I’m wondering if he’s just a carrier with mild symptoms . I do wonder if enzymes would help him beef up a little bit. He barely eats, but I wonder sometimes if that’s because eating gives him tummy issues. He never tells me that, but my 3 yr old doesn’t prune that way in the tub, nor do I……. Thoughts … Or am I just psycho

    Profile photo of pypersmompypersmom
    Member
    #171205437393

    I have the delta508 mutation and am a carrier. I have been tested for a wide range of other less common mutations, so I know with reasonable certainty that I do not have a second mutation.

    I have a range of issues that I am just now putting together as possibly related to the idea of carrier symptoms.
    *One confirmed bout of acute pancreatitis
    *chronic and severe IBS symptoms
    *intermittent hyperparathyroidism
    *salivary gland stones

    Profile photo of rosegirl620rosegirl620
    Member
    #171205435950

    Well here we go again. I never did the whole AMBRY testing to check for other mutations. I have to see if my insurance convers. My middle daughter is sick again and this time with double pheunomia. I don’t even know how many times she has missed school this year.

    Profile photo of jaybirdjaybird
    Member
    #171205168346

    It makes me crazy, because it flies in the face of the whole ‘recessive disease’ thing where one mutation should be completely suppressed by the healthy gene, but it is what it is- CF carriers can absolutely be symptomatic. It’s still an evolving dx- enter CRMS for example. DF508 carriers are known to be especially affected and associated with somewhat higher sweat tests and a lot of sinusitis for example, although its certainly not limited to this mutation or those issues.

    My son is a carrier and has now been dx’ed with CRMS due to severity of symptoms that have developed over the last 2 years. He is especially complicated though as we cannot genetically rule out CF. if he ever cultures PA or anything else particularly nasty, his pft’s continue to tank or he develops more symptoms than he already has we are going to assume he has the unknown 2nd mutation his sister has and the dx will change to CF.

    Profile photo of jaybirdjaybird
    Member
    #171205299976

    It makes me crazy, because it flies in the face of the whole ‘recessive disease’ thing where one mutation should be completely suppressed by the healthy gene, but it is what it is- CF carriers can absolutely be symptomatic. It’s still an evolving dx- enter CRMS for example. DF508 carriers are known to be especially affected and associated with somewhat higher sweat tests and a lot of sinusitis for example, although its certainly not limited to this mutation or those issues.

    My son is a carrier and has now been dx’ed with CRMS due to severity of symptoms that have developed over the last 2 years. He is especially complicated though as we cannot genetically rule out CF. if he ever cultures PA or anything else particularly nasty, his pft’s continue to tank or he develops more symptoms than he already has we are going to assume he has the unknown 2nd mutation his sister has and the dx will change to CF.

    Profile photo of AlliesmomAlliesmom
    Member
    #171205168209

    I have thought for some time that carriers may have some symptoms… My daughter is a carrier and she has always had serious digestion issues. I am a carrier (obviously lol) and I too have always suffered with stomache issues, especially after any kind of greasy foods. They have labeled anything form IBS to Diverticulitis.. I also use to suffer horribly from bronchitis as a child. I would end up in the hospital almost every year until I was about 14. I do not have as bad bronchitis issues now..(very mild in fact) but I do have the stomache issues and so does my daughter… I do not think they have done enough research on carrrier related issues, on any disorder! I am glad to hear i am not the only one who has thought this!! Thx for being open and honest everyone!

    Profile photo of AlliesmomAlliesmom
    Member
    #171205299851

    I have thought for some time that carriers may have some symptoms… My daughter is a carrier and she has always had serious digestion issues. I am a carrier (obviously lol) and I too have always suffered with stomache issues, especially after any kind of greasy foods. They have labeled anything form IBS to Diverticulitis.. I also use to suffer horribly from bronchitis as a child. I would end up in the hospital almost every year until I was about 14. I do not have as bad bronchitis issues now..(very mild in fact) but I do have the stomache issues and so does my daughter… I do not think they have done enough research on carrrier related issues, on any disorder! I am glad to hear i am not the only one who has thought this!! Thx for being open and honest everyone!

    Profile photo of mmacmmac
    Member
    #171205168174

    I am 27 I am a carrier(one DF508 gene),I have a 5 years old son who has cystic fibrosis (DF508 in both genes) and a 3,5 year old daughter who is a carrier too.I didnt have any cystic fibrosis related symptoms in my life,only 4 years ago i was diagnosed with ulcerative collitis.My daughter is healthy too.I did a prenatal testing when i was pregnant in her -chorionic vilus sampling -and there we found she was a carrier.My son is doing quite well .Exept from small colds and that he has to take enzymes ,antiviotics and vitamins(A,D,E) he has no other serious problem.

    Profile photo of mmacmmac
    Member
    #171205299820

    I am 27 I am a carrier(one DF508 gene),I have a 5 years old son who has cystic fibrosis (DF508 in both genes) and a 3,5 year old daughter who is a carrier too.I didnt have any cystic fibrosis related symptoms in my life,only 4 years ago i was diagnosed with ulcerative collitis.My daughter is healthy too.I did a prenatal testing when i was pregnant in her -chorionic vilus sampling -and there we found she was a carrier.My son is doing quite well .Exept from small colds and that he has to take enzymes ,antiviotics and vitamins(A,D,E) he has no other serious problem.

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