My son is 5 weeks old today. He had a blood dna test done at 2 weeks old and we were told he had one abnormal cf gene. We then had a sweat test done and his numbers were borderline at 40.9 and 44.3. We are now awaiting results from an expanded dna test. However, his doctor keeps telling us he believes our son will be a symptomatic carrier. Has anyone else ever heard of this? Neither my husband or I have a history of cf in our families, so we are not informed on the subject at all. He weighed 6lbs at birth, weighed 5lbs 7oz at 2 weeks and now weighs 7lbs 9 oz. They tested him for CF because he had a meconium plug at birth and because of the weight loss. So I guess I just do not understand how he could have symptoms but not the disease. Thank you so much for your time.
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Symptomatic Carrier
- Thread starter MasonsMom
- Start date
My son is 5 weeks old today. He had a blood dna test done at 2 weeks old and we were told he had one abnormal cf gene. We then had a sweat test done and his numbers were borderline at 40.9 and 44.3. We are now awaiting results from an expanded dna test. However, his doctor keeps telling us he believes our son will be a symptomatic carrier. Has anyone else ever heard of this? Neither my husband or I have a history of cf in our families, so we are not informed on the subject at all. He weighed 6lbs at birth, weighed 5lbs 7oz at 2 weeks and now weighs 7lbs 9 oz. They tested him for CF because he had a meconium plug at birth and because of the weight loss. So I guess I just do not understand how he could have symptoms but not the disease. Thank you so much for your time.
I believe that a systematic carrier is only a carrier of the CF gene. Meaning that your child will not have CF but can carry the gene to his/her children. I have CF and my older sister does not and the doctors told her that she is a carrier. Don't quote me on that but im pretty positive that is what it means.
I believe that a systematic carrier is only a carrier of the CF gene. Meaning that your child will not have CF but can carry the gene to his/her children. I have CF and my older sister does not and the doctors told her that she is a carrier. Don't quote me on that but im pretty positive that is what it means.
I have never heard of a symptomatic carrier. As far as I know you can have 1 abnormal CF gene and be just a carrier or have 2 and have CF. It sounds like they are just being very thorough to make sure the blood test was correct. As far as his sweat test, numbers in the 40's should not be considered borderline. It has been a few years but my son was 109 and they considered that boderline high. He did infact turn out to have CF, but I would feel comfortable with numbers in the 40's. If I were you I would get the number from your doctor to the closest CF center and call them to get information on symptomatic carriers.
Good luck-
Caren
Good luck-
Caren
I have never heard of a symptomatic carrier. As far as I know you can have 1 abnormal CF gene and be just a carrier or have 2 and have CF. It sounds like they are just being very thorough to make sure the blood test was correct. As far as his sweat test, numbers in the 40's should not be considered borderline. It has been a few years but my son was 109 and they considered that boderline high. He did infact turn out to have CF, but I would feel comfortable with numbers in the 40's. If I were you I would get the number from your doctor to the closest CF center and call them to get information on symptomatic carriers.
Good luck-
Caren
Good luck-
Caren
NoDayButToday
New member
I don't know from personal experience, but from what other people have said on this forum, anything between 40-60 is considered borderline. Caren, maybe your son had a test with different measurements or something?
NoDayButToday
New member
I don't know from personal experience, but from what other people have said on this forum, anything between 40-60 is considered borderline. Caren, maybe your son had a test with different measurements or something?
Results from a sweat test are classified 0-40 negative, 40-60 borderline, and 60+ positive for CF. We were told by our CF center that those in the borderline area (40-60) are usually advised to get genetic blood tests done especially if they show some symptoms associated with CF. Our daughter's numbers were 88 and 93 and they called us within an hour to tell us that she had CF.
We have two other daughters. One has asthma and one has sinus issues. Although they tested negative for the sweat test, we have not had them genetically tested to see if they are carriers. Our CF center has told us that they are finding that some carriers of CF sometimes show symptoms associated with CF on a much milder basis i.e asthma and sinus. Perhaps that's what the doctor meant by a "symptomatic carrier". Hope this helps a little.
Maria (mother of three daughters, the youngest, Samantha w/CF)
We have two other daughters. One has asthma and one has sinus issues. Although they tested negative for the sweat test, we have not had them genetically tested to see if they are carriers. Our CF center has told us that they are finding that some carriers of CF sometimes show symptoms associated with CF on a much milder basis i.e asthma and sinus. Perhaps that's what the doctor meant by a "symptomatic carrier". Hope this helps a little.
Maria (mother of three daughters, the youngest, Samantha w/CF)
Results from a sweat test are classified 0-40 negative, 40-60 borderline, and 60+ positive for CF. We were told by our CF center that those in the borderline area (40-60) are usually advised to get genetic blood tests done especially if they show some symptoms associated with CF. Our daughter's numbers were 88 and 93 and they called us within an hour to tell us that she had CF.
We have two other daughters. One has asthma and one has sinus issues. Although they tested negative for the sweat test, we have not had them genetically tested to see if they are carriers. Our CF center has told us that they are finding that some carriers of CF sometimes show symptoms associated with CF on a much milder basis i.e asthma and sinus. Perhaps that's what the doctor meant by a "symptomatic carrier". Hope this helps a little.
Maria (mother of three daughters, the youngest, Samantha w/CF)
We have two other daughters. One has asthma and one has sinus issues. Although they tested negative for the sweat test, we have not had them genetically tested to see if they are carriers. Our CF center has told us that they are finding that some carriers of CF sometimes show symptoms associated with CF on a much milder basis i.e asthma and sinus. Perhaps that's what the doctor meant by a "symptomatic carrier". Hope this helps a little.
Maria (mother of three daughters, the youngest, Samantha w/CF)
I too have heard of these symptomatic carriers. My mom is obviously a carrier and she has had problems with asthma as she has gotten older. However, whenever she would have an attack it was always antibiotics, not steroids, that made her better. I used to joke with her for years that she had CF, not asthma. Then my CF doctor confirmed that there are cases of CF carriers that can have some symptoms of CF, but they are very mild. She has since been diagnosed with bronchiectasis, which is caused by repeated lung infections. I think that all of her lung problems are related to the CF carrier gene. However, she is 67 years old and is still doing pretty good.
Martha 29, CF
Martha 29, CF
Martha - thank you so much for your reply. It sure does help alot to know that others have heard of this. So far Mason hasn't had any lung problems, but he does have some digestive troubles. And it also seems as though he is having a few sinus problems already as well. Again, I appreciate the information.
-Velvet-
-Velvet-
HollyCatheryn
New member
My younger sister has had almost all the same symptoms as myself but to a lesser degree. Sinus, asthma, kindey stones, digestive issues (takes enzymes). But her sweat tests were neg. and her gene-screen came back as a carrier. We in the CF community talked about symptomatic carriers for a long time, but the medical community is just now starting to acknowledge the possiblity. Depending on whta doc you speak to they may believe in it or not. There's still not much statistical/clinical evidence gathered.
<a target=new class=ftalternatingbarlinklarge href="http://www3.nbnet.nb.ca/normap/CFcarriersymptoms.htm">This site</a> has some info on carrier symptoms.
Also remember the simple DNA tests only test for a few of the most common mutations so there's still a chance they'll find another less common one in the expanded test.
Good luck, I hope we've been able to help.
Also remember the simple DNA tests only test for a few of the most common mutations so there's still a chance they'll find another less common one in the expanded test.
Good luck, I hope we've been able to help.
I thought I might post an update for anyone curious as to the outcome of our situation. The expanded DNA test did find another mutation, but it couldn't determine if both mutations were in 1 gene or 2 genes. The doctor drew blood from both me and my husband to see if each of us carried a mutation, or if 1 of us carried both of them. Amazingly, my husband carries both of the mutations. So basically, my husband and my son both carry 2 CF mutations, but have both of them on one gene. Therefore, they are symptomatic carriers, and do no have full blown CF. The doctor keeps telling us that this is an entirely new area. It definitely explains my husband problems throughout his life though. He was diagnosed with Irritable Bowel Syndrome, but no treatment ever helped. And his asthma and sinus problems, now we know it is because of the CF gene he has. Anyways, thank you all for answering my questions and being so supportive. Mason will continue his enzymes, because his body has proven it needs them. And we also have the nebulizer and meds in case he ever has a lung flare-up. As of right now though, his lungs have been completely clear. I know I will continue to read and post on this message board, because it is so absolutely wonderful and informative. Thank you all.
Velvet
Velvet