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Pancreatic Sufficiency and Symptomatic Carrier

N

NoExcuses

New member
ya you bring up a good point.

hard to tell....but there's no reason not to get tested. <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
ya you bring up a good point.

hard to tell....but there's no reason not to get tested. <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
ya you bring up a good point.

hard to tell....but there's no reason not to get tested. <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
ya you bring up a good point.

hard to tell....but there's no reason not to get tested. <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
N

NoExcuses

New member
ya you bring up a good point.

hard to tell....but there's no reason not to get tested. <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0"> <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
M

Mommafirst

Guest
My daughter was born pancreatic sufficient and has lost sufficiency. Its a scale and hers has crept lower in the year and a half since we started testing and she is already "preemptively" on enzymes even though she is technically above the cut off and thus considered PS. We were told originally that she could lose her sufficiency sooner or later or possibly never. We were told that pancreatic sufficiency won't flip flop back and forth, but that there was no guarantee she would stay sufficient, and now we are confident she will lose sufficiency.

Anyway, its a pretty easy (but gross) stool sample test -- fecal fat or stool elastase. Celiac's disease could also cause pancreatic insufficiency. As well as since she is known to have one df508, I'd think it would be worthwhile to check ambry to make sure there isn't another rarer mutation hidden in there. It would be odd, but stranger things have happened.
 
M

Mommafirst

Guest
My daughter was born pancreatic sufficient and has lost sufficiency. Its a scale and hers has crept lower in the year and a half since we started testing and she is already "preemptively" on enzymes even though she is technically above the cut off and thus considered PS. We were told originally that she could lose her sufficiency sooner or later or possibly never. We were told that pancreatic sufficiency won't flip flop back and forth, but that there was no guarantee she would stay sufficient, and now we are confident she will lose sufficiency.

Anyway, its a pretty easy (but gross) stool sample test -- fecal fat or stool elastase. Celiac's disease could also cause pancreatic insufficiency. As well as since she is known to have one df508, I'd think it would be worthwhile to check ambry to make sure there isn't another rarer mutation hidden in there. It would be odd, but stranger things have happened.
 
M

Mommafirst

Guest
My daughter was born pancreatic sufficient and has lost sufficiency. Its a scale and hers has crept lower in the year and a half since we started testing and she is already "preemptively" on enzymes even though she is technically above the cut off and thus considered PS. We were told originally that she could lose her sufficiency sooner or later or possibly never. We were told that pancreatic sufficiency won't flip flop back and forth, but that there was no guarantee she would stay sufficient, and now we are confident she will lose sufficiency.

Anyway, its a pretty easy (but gross) stool sample test -- fecal fat or stool elastase. Celiac's disease could also cause pancreatic insufficiency. As well as since she is known to have one df508, I'd think it would be worthwhile to check ambry to make sure there isn't another rarer mutation hidden in there. It would be odd, but stranger things have happened.
 
M

Mommafirst

Guest
My daughter was born pancreatic sufficient and has lost sufficiency. Its a scale and hers has crept lower in the year and a half since we started testing and she is already "preemptively" on enzymes even though she is technically above the cut off and thus considered PS. We were told originally that she could lose her sufficiency sooner or later or possibly never. We were told that pancreatic sufficiency won't flip flop back and forth, but that there was no guarantee she would stay sufficient, and now we are confident she will lose sufficiency.

Anyway, its a pretty easy (but gross) stool sample test -- fecal fat or stool elastase. Celiac's disease could also cause pancreatic insufficiency. As well as since she is known to have one df508, I'd think it would be worthwhile to check ambry to make sure there isn't another rarer mutation hidden in there. It would be odd, but stranger things have happened.
 
M

Mommafirst

Guest
My daughter was born pancreatic sufficient and has lost sufficiency. Its a scale and hers has crept lower in the year and a half since we started testing and she is already "preemptively" on enzymes even though she is technically above the cut off and thus considered PS. We were told originally that she could lose her sufficiency sooner or later or possibly never. We were told that pancreatic sufficiency won't flip flop back and forth, but that there was no guarantee she would stay sufficient, and now we are confident she will lose sufficiency.

Anyway, its a pretty easy (but gross) stool sample test -- fecal fat or stool elastase. Celiac's disease could also cause pancreatic insufficiency. As well as since she is known to have one df508, I'd think it would be worthwhile to check ambry to make sure there isn't another rarer mutation hidden in there. It would be odd, but stranger things have happened.
 
B

blondelawyer

New member
Thanks everyone! My husband's second mutation is one that didn't show up on his genetic test in 1997--so it is possible that she has that mutation too...geez I hope not! They are testing for Celiac's disease and other things as well.
 
B

blondelawyer

New member
Thanks everyone! My husband's second mutation is one that didn't show up on his genetic test in 1997--so it is possible that she has that mutation too...geez I hope not! They are testing for Celiac's disease and other things as well.
 
B

blondelawyer

New member
Thanks everyone! My husband's second mutation is one that didn't show up on his genetic test in 1997--so it is possible that she has that mutation too...geez I hope not! They are testing for Celiac's disease and other things as well.
 
B

blondelawyer

New member
Thanks everyone! My husband's second mutation is one that didn't show up on his genetic test in 1997--so it is possible that she has that mutation too...geez I hope not! They are testing for Celiac's disease and other things as well.
 
B

blondelawyer

New member
Thanks everyone! My husband's second mutation is one that didn't show up on his genetic test in 1997--so it is possible that she has that mutation too...geez I hope not! They are testing for Celiac's disease and other things as well.
 
2

2005CFmom

Super Moderator
I don't think that there is much definately known about symptomatic carriers. But this is what I found out about it from my daughters Cf doctor today....

My husband has bronchiectasis, which his dr and my daughter CF dr think it is POSSIBLY from being a symptomatic carrier (or atleast is one of the factors). (He sweat tested at 18, and only a carrier on the Ambry full panel.) The CF dr said that tests have been done that show the actual CFTR function (NPD ?) and some carriers showed less function than normal, but not as low as someone with CF. Does that make sense?

Anyway, as others have said a full panel test would probably be a good idea. Maybe your husbands dr can order one to see if his second mutation can be found. That way his sister will only need to test for that mutation.
 
2

2005CFmom

Super Moderator
I don't think that there is much definately known about symptomatic carriers. But this is what I found out about it from my daughters Cf doctor today....

My husband has bronchiectasis, which his dr and my daughter CF dr think it is POSSIBLY from being a symptomatic carrier (or atleast is one of the factors). (He sweat tested at 18, and only a carrier on the Ambry full panel.) The CF dr said that tests have been done that show the actual CFTR function (NPD ?) and some carriers showed less function than normal, but not as low as someone with CF. Does that make sense?

Anyway, as others have said a full panel test would probably be a good idea. Maybe your husbands dr can order one to see if his second mutation can be found. That way his sister will only need to test for that mutation.
 
2

2005CFmom

Super Moderator
I don't think that there is much definately known about symptomatic carriers. But this is what I found out about it from my daughters Cf doctor today....

My husband has bronchiectasis, which his dr and my daughter CF dr think it is POSSIBLY from being a symptomatic carrier (or atleast is one of the factors). (He sweat tested at 18, and only a carrier on the Ambry full panel.) The CF dr said that tests have been done that show the actual CFTR function (NPD ?) and some carriers showed less function than normal, but not as low as someone with CF. Does that make sense?

Anyway, as others have said a full panel test would probably be a good idea. Maybe your husbands dr can order one to see if his second mutation can be found. That way his sister will only need to test for that mutation.
 
2

2005CFmom

Super Moderator
I don't think that there is much definately known about symptomatic carriers. But this is what I found out about it from my daughters Cf doctor today....

My husband has bronchiectasis, which his dr and my daughter CF dr think it is POSSIBLY from being a symptomatic carrier (or atleast is one of the factors). (He sweat tested at 18, and only a carrier on the Ambry full panel.) The CF dr said that tests have been done that show the actual CFTR function (NPD ?) and some carriers showed less function than normal, but not as low as someone with CF. Does that make sense?

Anyway, as others have said a full panel test would probably be a good idea. Maybe your husbands dr can order one to see if his second mutation can be found. That way his sister will only need to test for that mutation.
 
2

2005CFmom

Super Moderator
I don't think that there is much definately known about symptomatic carriers. But this is what I found out about it from my daughters Cf doctor today....

My husband has bronchiectasis, which his dr and my daughter CF dr think it is POSSIBLY from being a symptomatic carrier (or atleast is one of the factors). (He sweat tested at 18, and only a carrier on the Ambry full panel.) The CF dr said that tests have been done that show the actual CFTR function (NPD ?) and some carriers showed less function than normal, but not as low as someone with CF. Does that make sense?

Anyway, as others have said a full panel test would probably be a good idea. Maybe your husbands dr can order one to see if his second mutation can be found. That way his sister will only need to test for that mutation.
 
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