Positive sweat test and now maybe not CF?

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grannylana

New member
Recently my 5 year old granddughter tested positive with 2 sweat tests - one a 68 and one a 69. Now since 2 rounds of genetic testing has come back and no mutations have been located they are questioning her prior diagnosis. Has anyone heard of this before? She was bleeding in her bowels, had lost weight and has a terrible cough which all seem to be improving with breathing treatments and enzymes. We have changed hospitals and even doctors once to get to the bottom of what is wrong with El. Has this happened to any of you? Her new clinic says it isnt positive until 80 but they are treating her for CF?
 
G

grannylana

New member
Recently my 5 year old granddughter tested positive with 2 sweat tests - one a 68 and one a 69. Now since 2 rounds of genetic testing has come back and no mutations have been located they are questioning her prior diagnosis. Has anyone heard of this before? She was bleeding in her bowels, had lost weight and has a terrible cough which all seem to be improving with breathing treatments and enzymes. We have changed hospitals and even doctors once to get to the bottom of what is wrong with El. Has this happened to any of you? Her new clinic says it isnt positive until 80 but they are treating her for CF?
 
G

grannylana

New member
Recently my 5 year old granddughter tested positive with 2 sweat tests - one a 68 and one a 69. Now since 2 rounds of genetic testing has come back and no mutations have been located they are questioning her prior diagnosis. Has anyone heard of this before? She was bleeding in her bowels, had lost weight and has a terrible cough which all seem to be improving with breathing treatments and enzymes. We have changed hospitals and even doctors once to get to the bottom of what is wrong with El. Has this happened to any of you? Her new clinic says it isnt positive until 80 but they are treating her for CF?
 
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clawson5104

New member
I dont know much about CF myself, but when I started on this adventure with the CF learning I too thought either you had it or you dont. But from what I have learned from alot of advice of CF'ers, doctors, and reports.....apparently it is not so cut and dry. there are apparently alot of people who are diagnosed with CF even if they only have one mutation, and some I've heard only by symptoms. I suppose they have not identified all the mutations for CF yet. My son has only one mutation and is still being treated for CF, just a milder form of the disease, at least until they figure out what else could be causing his symptoms.

There is another disease that can cause positive sweat tests called Addison's, I dont know all the symptoms but you may want to look into that one too.

I hope you all the best, and there are alot of people here who can help out with your questions (that actually have answers....LOL) so keep us up to date on her condition.

p.s. Did they do the FULL panel genetic test??? that makes a difference.
 
C

clawson5104

New member
I dont know much about CF myself, but when I started on this adventure with the CF learning I too thought either you had it or you dont. But from what I have learned from alot of advice of CF'ers, doctors, and reports.....apparently it is not so cut and dry. there are apparently alot of people who are diagnosed with CF even if they only have one mutation, and some I've heard only by symptoms. I suppose they have not identified all the mutations for CF yet. My son has only one mutation and is still being treated for CF, just a milder form of the disease, at least until they figure out what else could be causing his symptoms.

There is another disease that can cause positive sweat tests called Addison's, I dont know all the symptoms but you may want to look into that one too.

I hope you all the best, and there are alot of people here who can help out with your questions (that actually have answers....LOL) so keep us up to date on her condition.

p.s. Did they do the FULL panel genetic test??? that makes a difference.
 
C

clawson5104

New member
I dont know much about CF myself, but when I started on this adventure with the CF learning I too thought either you had it or you dont. But from what I have learned from alot of advice of CF'ers, doctors, and reports.....apparently it is not so cut and dry. there are apparently alot of people who are diagnosed with CF even if they only have one mutation, and some I've heard only by symptoms. I suppose they have not identified all the mutations for CF yet. My son has only one mutation and is still being treated for CF, just a milder form of the disease, at least until they figure out what else could be causing his symptoms.

There is another disease that can cause positive sweat tests called Addison's, I dont know all the symptoms but you may want to look into that one too.

I hope you all the best, and there are alot of people here who can help out with your questions (that actually have answers....LOL) so keep us up to date on her condition.

p.s. Did they do the FULL panel genetic test??? that makes a difference.
 
M

miesl

New member
Two questions...

Which genetic screening was done? Have her parents get a copy of the report explaining what screen was done.

It sounds like she is not being seen at a CF Center, (the comment about 80). Where is she being seen?
 
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miesl

New member
Two questions...

Which genetic screening was done? Have her parents get a copy of the report explaining what screen was done.

It sounds like she is not being seen at a CF Center, (the comment about 80). Where is she being seen?
 
M

miesl

New member
Two questions...

Which genetic screening was done? Have her parents get a copy of the report explaining what screen was done.

It sounds like she is not being seen at a CF Center, (the comment about 80). Where is she being seen?
 
M

Mommafirst

Guest
I'm going to echo what the others have said, what test did they do? If it wasn't Ambry Amplified then it is probably the next step to do so. I had a friend whose son had only one mutation found and has many classic CF symptoms. The doctor told her that since his mutation is not the DF508 (the most common one) then he can't have CF, which is TOTALLY untrue. Unfortunately, what I've learned in this adventure is that the doctors don't always know what they are talking about. Question everything!! If the enzymes and breathing treatments helped, and CF seems to make sense, then keep pushing until you get the answers.

I'm so sorry, it really is tough to be in the limbo of "does she or doesn't she"!!! I hope you get some answers soon.
 
M

Mommafirst

Guest
I'm going to echo what the others have said, what test did they do? If it wasn't Ambry Amplified then it is probably the next step to do so. I had a friend whose son had only one mutation found and has many classic CF symptoms. The doctor told her that since his mutation is not the DF508 (the most common one) then he can't have CF, which is TOTALLY untrue. Unfortunately, what I've learned in this adventure is that the doctors don't always know what they are talking about. Question everything!! If the enzymes and breathing treatments helped, and CF seems to make sense, then keep pushing until you get the answers.

I'm so sorry, it really is tough to be in the limbo of "does she or doesn't she"!!! I hope you get some answers soon.
 
M

Mommafirst

Guest
I'm going to echo what the others have said, what test did they do? If it wasn't Ambry Amplified then it is probably the next step to do so. I had a friend whose son had only one mutation found and has many classic CF symptoms. The doctor told her that since his mutation is not the DF508 (the most common one) then he can't have CF, which is TOTALLY untrue. Unfortunately, what I've learned in this adventure is that the doctors don't always know what they are talking about. Question everything!! If the enzymes and breathing treatments helped, and CF seems to make sense, then keep pushing until you get the answers.

I'm so sorry, it really is tough to be in the limbo of "does she or doesn't she"!!! I hope you get some answers soon.
 
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okok

New member
They will never be able to identify ALL CFTR mutations because new ones can arise at any time. Although the sweat test is subject to both false negatives and false positives, when preformed correctly it is still informative. I have heard that in young childern the sweat chloride can be elevated due to the child being underweight. Was your daughter underweight when it was preformed? It sounds like since the treatments are helpful she might have CF even though no mutations have been found. i certainly hope the doctors will not stop treating her just because they can't find any mutations. Still i think it is good they are investigating other possibilities since if she doesn't have CF it will be so much better to treat her for what is causing her to lose weight and feel bad. I've never heard of bleeding in the bowels with CFers but that doesn't mean it isn't related to CF.
 
O

okok

New member
They will never be able to identify ALL CFTR mutations because new ones can arise at any time. Although the sweat test is subject to both false negatives and false positives, when preformed correctly it is still informative. I have heard that in young childern the sweat chloride can be elevated due to the child being underweight. Was your daughter underweight when it was preformed? It sounds like since the treatments are helpful she might have CF even though no mutations have been found. i certainly hope the doctors will not stop treating her just because they can't find any mutations. Still i think it is good they are investigating other possibilities since if she doesn't have CF it will be so much better to treat her for what is causing her to lose weight and feel bad. I've never heard of bleeding in the bowels with CFers but that doesn't mean it isn't related to CF.
 
O

okok

New member
They will never be able to identify ALL CFTR mutations because new ones can arise at any time. Although the sweat test is subject to both false negatives and false positives, when preformed correctly it is still informative. I have heard that in young childern the sweat chloride can be elevated due to the child being underweight. Was your daughter underweight when it was preformed? It sounds like since the treatments are helpful she might have CF even though no mutations have been found. i certainly hope the doctors will not stop treating her just because they can't find any mutations. Still i think it is good they are investigating other possibilities since if she doesn't have CF it will be so much better to treat her for what is causing her to lose weight and feel bad. I've never heard of bleeding in the bowels with CFers but that doesn't mean it isn't related to CF.
 
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grannylana

New member
In response to you all - yes we are going to our second CF center in Missouri. The first would not return my daughter in laws calls or even explain things to her so we switched and so far love the type of care and concern from the doctor here. However they ran what they called the first round of genetic screening at Cf center # 1 and it came back with none found. Then the new doctor ran the second round and as of this week it also had no positive mutations. I also asked why not the full panel from the start and was told insurance was the reason they are taking it in stages. Stage 2 supposedly has us down to 98% and still have found none. The nurse practitioner said if it isnt in the first 98% then she probably does not have it and she is also the one that said they look for an 80 on the sweat test. We had been told and told 60 and above are positive. So now we wait for the 3rd round to come back and the doctor says he will still treat her for CF but not diagnose it yet. Our problem will be if they dont find anything in this last screening the kids(my son and daughter in law) will not be eligilble for any help down the line should they need it. Their 3 yr old son has auto immune deficiencies and so they already have some medical bills for a young couple. However their son had a negative sweat test. We rejoiced. They have looked into the other disease that has positive sweat test but have been assured that isnt her problem. I think someone called it Addisons, my daughter in law used a much longer name but the same thing. I did think it was have it or not so we were quite confused by all this.

Thanks and we will keep asking questions so if you know of anything else we need to do please advise us newcomers.

Grannylana
Mother of 4, granny of 7, only 1 with CF so far?????
 
G

grannylana

New member
In response to you all - yes we are going to our second CF center in Missouri. The first would not return my daughter in laws calls or even explain things to her so we switched and so far love the type of care and concern from the doctor here. However they ran what they called the first round of genetic screening at Cf center # 1 and it came back with none found. Then the new doctor ran the second round and as of this week it also had no positive mutations. I also asked why not the full panel from the start and was told insurance was the reason they are taking it in stages. Stage 2 supposedly has us down to 98% and still have found none. The nurse practitioner said if it isnt in the first 98% then she probably does not have it and she is also the one that said they look for an 80 on the sweat test. We had been told and told 60 and above are positive. So now we wait for the 3rd round to come back and the doctor says he will still treat her for CF but not diagnose it yet. Our problem will be if they dont find anything in this last screening the kids(my son and daughter in law) will not be eligilble for any help down the line should they need it. Their 3 yr old son has auto immune deficiencies and so they already have some medical bills for a young couple. However their son had a negative sweat test. We rejoiced. They have looked into the other disease that has positive sweat test but have been assured that isnt her problem. I think someone called it Addisons, my daughter in law used a much longer name but the same thing. I did think it was have it or not so we were quite confused by all this.

Thanks and we will keep asking questions so if you know of anything else we need to do please advise us newcomers.

Grannylana
Mother of 4, granny of 7, only 1 with CF so far?????
 
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