Over 4 years later and still no symptoms.....

annonymous · Mar 3, 2010

I am looking for people who have a child that was picked up on the NBS, but still have not presented with symptoms. Or, people who have had borderline-positive sweat tests, but no or few CF symptoms???

My ds was picked up on the NBS over 4 years ago. The full Ambry shows that he is a carrier of D508. He has had borderline and positive sweat tests. All other tests show that he is healthy (xrays, vitamin levels, stool elastase, throat cultures, etc.). He has had no CF type illnesses, hospital stays, etc.

I've been told that the NBS has caused some dilemmas because it is identifying babies who would not have otherwise been looked at as having CF. My understanding is that even with 2 mutations, there are some people who may never present with symptoms at all, or few if any because not all mutations are disease causing.

If my son carries a 2nd mutation that hasn't been identified, then maybe it is less severe and overriding the D508? Or maybe there is not a 2nd mutation at all and he is just a salty little fellow, thus causing the highish sweat tests?

I guess I just expected for something to show up by now if it is CF, but even if something did, it sounds like it would have to be pretty significant and/or frequent to officially classify my son as having CF. My understanding is that Dx is based on the whole picture...sweat tests, genetics, symptoms, etc. I'm told that even carriers can sometimes present with minor symptoms.

Sorry for the rambling. I guess I am just wanting to find others who are in similar situations. Or, maybe give hope to others (whose baby was picked up on the NBS) that it isn't necessarily an immediate death sentence, as I felt it was over 4 years ago. Here we are over 4 years later, and he is doing great...healthy and 75Th% for weight and height.

I know that many people do not find out they have symptoms until later in life, but it seems that by the time they find out they have CF, they can look back and see a pattern of issues that were overlooked. I never want this to be the case for my son.

This world often feels so lonely for me because no one I know understands or knows much about CF. So, if anyone can relate, I'd love to hear about your experiences.

annonymous · Mar 3, 2010

I am looking for people who have a child that was picked up on the NBS, but still have not presented with symptoms. Or, people who have had borderline-positive sweat tests, but no or few CF symptoms???

My ds was picked up on the NBS over 4 years ago. The full Ambry shows that he is a carrier of D508. He has had borderline and positive sweat tests. All other tests show that he is healthy (xrays, vitamin levels, stool elastase, throat cultures, etc.). He has had no CF type illnesses, hospital stays, etc.

I've been told that the NBS has caused some dilemmas because it is identifying babies who would not have otherwise been looked at as having CF. My understanding is that even with 2 mutations, there are some people who may never present with symptoms at all, or few if any because not all mutations are disease causing.

If my son carries a 2nd mutation that hasn't been identified, then maybe it is less severe and overriding the D508? Or maybe there is not a 2nd mutation at all and he is just a salty little fellow, thus causing the highish sweat tests?

I guess I just expected for something to show up by now if it is CF, but even if something did, it sounds like it would have to be pretty significant and/or frequent to officially classify my son as having CF. My understanding is that Dx is based on the whole picture...sweat tests, genetics, symptoms, etc. I'm told that even carriers can sometimes present with minor symptoms.

Sorry for the rambling. I guess I am just wanting to find others who are in similar situations. Or, maybe give hope to others (whose baby was picked up on the NBS) that it isn't necessarily an immediate death sentence, as I felt it was over 4 years ago. Here we are over 4 years later, and he is doing great...healthy and 75Th% for weight and height.

I know that many people do not find out they have symptoms until later in life, but it seems that by the time they find out they have CF, they can look back and see a pattern of issues that were overlooked. I never want this to be the case for my son.

This world often feels so lonely for me because no one I know understands or knows much about CF. So, if anyone can relate, I'd love to hear about your experiences.

annonymous · Mar 3, 2010

I am looking for people who have a child that was picked up on the NBS, but still have not presented with symptoms. Or, people who have had borderline-positive sweat tests, but no or few CF symptoms???

My ds was picked up on the NBS over 4 years ago. The full Ambry shows that he is a carrier of D508. He has had borderline and positive sweat tests. All other tests show that he is healthy (xrays, vitamin levels, stool elastase, throat cultures, etc.). He has had no CF type illnesses, hospital stays, etc.

I've been told that the NBS has caused some dilemmas because it is identifying babies who would not have otherwise been looked at as having CF. My understanding is that even with 2 mutations, there are some people who may never present with symptoms at all, or few if any because not all mutations are disease causing.

If my son carries a 2nd mutation that hasn't been identified, then maybe it is less severe and overriding the D508? Or maybe there is not a 2nd mutation at all and he is just a salty little fellow, thus causing the highish sweat tests?

I guess I just expected for something to show up by now if it is CF, but even if something did, it sounds like it would have to be pretty significant and/or frequent to officially classify my son as having CF. My understanding is that Dx is based on the whole picture...sweat tests, genetics, symptoms, etc. I'm told that even carriers can sometimes present with minor symptoms.

Sorry for the rambling. I guess I am just wanting to find others who are in similar situations. Or, maybe give hope to others (whose baby was picked up on the NBS) that it isn't necessarily an immediate death sentence, as I felt it was over 4 years ago. Here we are over 4 years later, and he is doing great...healthy and 75Th% for weight and height.

I know that many people do not find out they have symptoms until later in life, but it seems that by the time they find out they have CF, they can look back and see a pattern of issues that were overlooked. I never want this to be the case for my son.

This world often feels so lonely for me because no one I know understands or knows much about CF. So, if anyone can relate, I'd love to hear about your experiences.

annonymous · Mar 3, 2010

I am looking for people who have a child that was picked up on the NBS, but still have not presented with symptoms. Or, people who have had borderline-positive sweat tests, but no or few CF symptoms???

My ds was picked up on the NBS over 4 years ago. The full Ambry shows that he is a carrier of D508. He has had borderline and positive sweat tests. All other tests show that he is healthy (xrays, vitamin levels, stool elastase, throat cultures, etc.). He has had no CF type illnesses, hospital stays, etc.

I've been told that the NBS has caused some dilemmas because it is identifying babies who would not have otherwise been looked at as having CF. My understanding is that even with 2 mutations, there are some people who may never present with symptoms at all, or few if any because not all mutations are disease causing.

If my son carries a 2nd mutation that hasn't been identified, then maybe it is less severe and overriding the D508? Or maybe there is not a 2nd mutation at all and he is just a salty little fellow, thus causing the highish sweat tests?

I guess I just expected for something to show up by now if it is CF, but even if something did, it sounds like it would have to be pretty significant and/or frequent to officially classify my son as having CF. My understanding is that Dx is based on the whole picture...sweat tests, genetics, symptoms, etc. I'm told that even carriers can sometimes present with minor symptoms.

Sorry for the rambling. I guess I am just wanting to find others who are in similar situations. Or, maybe give hope to others (whose baby was picked up on the NBS) that it isn't necessarily an immediate death sentence, as I felt it was over 4 years ago. Here we are over 4 years later, and he is doing great...healthy and 75Th% for weight and height.

I know that many people do not find out they have symptoms until later in life, but it seems that by the time they find out they have CF, they can look back and see a pattern of issues that were overlooked. I never want this to be the case for my son.

This world often feels so lonely for me because no one I know understands or knows much about CF. So, if anyone can relate, I'd love to hear about your experiences.

annonymous · Mar 3, 2010

I am looking for people who have a child that was picked up on the NBS, but still have not presented with symptoms. Or, people who have had borderline-positive sweat tests, but no or few CF symptoms???
 
 My ds was picked up on the NBS over 4 years ago. The full Ambry shows that he is a carrier of D508. He has had borderline and positive sweat tests. All other tests show that he is healthy (xrays, vitamin levels, stool elastase, throat cultures, etc.). He has had no CF type illnesses, hospital stays, etc.
 
 I've been told that the NBS has caused some dilemmas because it is identifying babies who would not have otherwise been looked at as having CF. My understanding is that even with 2 mutations, there are some people who may never present with symptoms at all, or few if any because not all mutations are disease causing.
 
 If my son carries a 2nd mutation that hasn't been identified, then maybe it is less severe and overriding the D508? Or maybe there is not a 2nd mutation at all and he is just a salty little fellow, thus causing the highish sweat tests?
 
 I guess I just expected for something to show up by now if it is CF, but even if something did, it sounds like it would have to be pretty significant and/or frequent to officially classify my son as having CF. My understanding is that Dx is based on the whole picture...sweat tests, genetics, symptoms, etc. I'm told that even carriers can sometimes present with minor symptoms.
 
 Sorry for the rambling. I guess I am just wanting to find others who are in similar situations. Or, maybe give hope to others (whose baby was picked up on the NBS) that it isn't necessarily an immediate death sentence, as I felt it was over 4 years ago. Here we are over 4 years later, and he is doing great...healthy and 75Th% for weight and height.
 
 I know that many people do not find out they have symptoms until later in life, but it seems that by the time they find out they have CF, they can look back and see a pattern of issues that were overlooked. I never want this to be the case for my son.
 
 This world often feels so lonely for me because no one I know understands or knows much about CF. So, if anyone can relate, I'd love to hear about your experiences.

NYCLawGirl · Mar 3, 2010

my understanding is that newborn screening can lead to false positives, sometimes for no reason at all. it's not really a sweat test, right? at any rate, i have a friend whose child was picked up on NBS and definitely does NOT have CF, so it definitely possible your son does not either.

as for the second mutation theory, it's also possible. unfortunately when you have a borderline sweat test and one identifiable mutation it's hard to give any real concrete answers. no one will ever be able to say definitively that there are NO more mutations to be identified, so there is always the possibility of a second mutation lurking in the wings. and the *general* rule with CF is that the least-severe mutation "controls" -- since we only need one functioning CFTR gene, whichever is least compromised will sort of "set the stage" in a sense. BUT, before i get flamed here (b/c people on this board really know their stuff), let me also just say that mutations alone do not guarantee outcomes in any way. even traditionally "less severe" mutations (i.e., mutations commonly associated with later diagnosis, less early pulmonary involvement, or pancreatic sufficiency) can definitely benefit from aggressive treatment. and, of course, CF is progressive in all its forms.

if your son doesn't have any symptoms and is in the 75th percentile for H/W, i'd say you have to be doing something right! do you currently have a diagnosis of CF or not? and if so, do you see a CF specialist and/or do any treatments?

NYCLawGirl · Mar 3, 2010

my understanding is that newborn screening can lead to false positives, sometimes for no reason at all. it's not really a sweat test, right? at any rate, i have a friend whose child was picked up on NBS and definitely does NOT have CF, so it definitely possible your son does not either.

as for the second mutation theory, it's also possible. unfortunately when you have a borderline sweat test and one identifiable mutation it's hard to give any real concrete answers. no one will ever be able to say definitively that there are NO more mutations to be identified, so there is always the possibility of a second mutation lurking in the wings. and the *general* rule with CF is that the least-severe mutation "controls" -- since we only need one functioning CFTR gene, whichever is least compromised will sort of "set the stage" in a sense. BUT, before i get flamed here (b/c people on this board really know their stuff), let me also just say that mutations alone do not guarantee outcomes in any way. even traditionally "less severe" mutations (i.e., mutations commonly associated with later diagnosis, less early pulmonary involvement, or pancreatic sufficiency) can definitely benefit from aggressive treatment. and, of course, CF is progressive in all its forms.

if your son doesn't have any symptoms and is in the 75th percentile for H/W, i'd say you have to be doing something right! do you currently have a diagnosis of CF or not? and if so, do you see a CF specialist and/or do any treatments?

NYCLawGirl · Mar 3, 2010

my understanding is that newborn screening can lead to false positives, sometimes for no reason at all. it's not really a sweat test, right? at any rate, i have a friend whose child was picked up on NBS and definitely does NOT have CF, so it definitely possible your son does not either.

as for the second mutation theory, it's also possible. unfortunately when you have a borderline sweat test and one identifiable mutation it's hard to give any real concrete answers. no one will ever be able to say definitively that there are NO more mutations to be identified, so there is always the possibility of a second mutation lurking in the wings. and the *general* rule with CF is that the least-severe mutation "controls" -- since we only need one functioning CFTR gene, whichever is least compromised will sort of "set the stage" in a sense. BUT, before i get flamed here (b/c people on this board really know their stuff), let me also just say that mutations alone do not guarantee outcomes in any way. even traditionally "less severe" mutations (i.e., mutations commonly associated with later diagnosis, less early pulmonary involvement, or pancreatic sufficiency) can definitely benefit from aggressive treatment. and, of course, CF is progressive in all its forms.

if your son doesn't have any symptoms and is in the 75th percentile for H/W, i'd say you have to be doing something right! do you currently have a diagnosis of CF or not? and if so, do you see a CF specialist and/or do any treatments?

NYCLawGirl · Mar 3, 2010

my understanding is that newborn screening can lead to false positives, sometimes for no reason at all. it's not really a sweat test, right? at any rate, i have a friend whose child was picked up on NBS and definitely does NOT have CF, so it definitely possible your son does not either.

as for the second mutation theory, it's also possible. unfortunately when you have a borderline sweat test and one identifiable mutation it's hard to give any real concrete answers. no one will ever be able to say definitively that there are NO more mutations to be identified, so there is always the possibility of a second mutation lurking in the wings. and the *general* rule with CF is that the least-severe mutation "controls" -- since we only need one functioning CFTR gene, whichever is least compromised will sort of "set the stage" in a sense. BUT, before i get flamed here (b/c people on this board really know their stuff), let me also just say that mutations alone do not guarantee outcomes in any way. even traditionally "less severe" mutations (i.e., mutations commonly associated with later diagnosis, less early pulmonary involvement, or pancreatic sufficiency) can definitely benefit from aggressive treatment. and, of course, CF is progressive in all its forms.

if your son doesn't have any symptoms and is in the 75th percentile for H/W, i'd say you have to be doing something right! do you currently have a diagnosis of CF or not? and if so, do you see a CF specialist and/or do any treatments?

NYCLawGirl · Mar 3, 2010

my understanding is that newborn screening can lead to false positives, sometimes for no reason at all. it's not really a sweat test, right? at any rate, i have a friend whose child was picked up on NBS and definitely does NOT have CF, so it definitely possible your son does not either.
 
 as for the second mutation theory, it's also possible. unfortunately when you have a borderline sweat test and one identifiable mutation it's hard to give any real concrete answers. no one will ever be able to say definitively that there are NO more mutations to be identified, so there is always the possibility of a second mutation lurking in the wings. and the *general* rule with CF is that the least-severe mutation "controls" -- since we only need one functioning CFTR gene, whichever is least compromised will sort of "set the stage" in a sense. BUT, before i get flamed here (b/c people on this board really know their stuff), let me also just say that mutations alone do not guarantee outcomes in any way. even traditionally "less severe" mutations (i.e., mutations commonly associated with later diagnosis, less early pulmonary involvement, or pancreatic sufficiency) can definitely benefit from aggressive treatment. and, of course, CF is progressive in all its forms.
 
 if your son doesn't have any symptoms and is in the 75th percentile for H/W, i'd say you have to be doing something right! do you currently have a diagnosis of CF or not? and if so, do you see a CF specialist and/or do any treatments?

annonymous · Mar 5, 2010

Piper...
Thanks so much for responding! We did treatments for a brief time because he did have CF Dx when he was a baby due to a positive NBS and positive sweat test. Because we did the NBS before he was 24 hours old, we were asked to redo it and the 2nd NBS was negative, which started the confusion. His sweat tests then started falling into the borderline range. All other testing kept coming back normal and he continued to do well (health, weight, etc.), so they changed him to carrier status and wanted to see him annually. We have seen a couple of CF specialists and yes, he is currently being seen by one now. He has recently had a positive sweat test again, so that is not good. They have thrown around the words "Atypical" (which I know isn't a popular thing to say on this board) and "CFTR Metabolic Syndrome". We'll find out more soon. I have always done some physio here and there for my own peace of mind, but not enough to brag about. I am actually awaiting the call from our CF doc to see what he wants us to do from now on at this point.

-M

annonymous · Mar 5, 2010

Piper...
Thanks so much for responding! We did treatments for a brief time because he did have CF Dx when he was a baby due to a positive NBS and positive sweat test. Because we did the NBS before he was 24 hours old, we were asked to redo it and the 2nd NBS was negative, which started the confusion. His sweat tests then started falling into the borderline range. All other testing kept coming back normal and he continued to do well (health, weight, etc.), so they changed him to carrier status and wanted to see him annually. We have seen a couple of CF specialists and yes, he is currently being seen by one now. He has recently had a positive sweat test again, so that is not good. They have thrown around the words "Atypical" (which I know isn't a popular thing to say on this board) and "CFTR Metabolic Syndrome". We'll find out more soon. I have always done some physio here and there for my own peace of mind, but not enough to brag about. I am actually awaiting the call from our CF doc to see what he wants us to do from now on at this point.

-M

annonymous · Mar 5, 2010

Piper...
Thanks so much for responding! We did treatments for a brief time because he did have CF Dx when he was a baby due to a positive NBS and positive sweat test. Because we did the NBS before he was 24 hours old, we were asked to redo it and the 2nd NBS was negative, which started the confusion. His sweat tests then started falling into the borderline range. All other testing kept coming back normal and he continued to do well (health, weight, etc.), so they changed him to carrier status and wanted to see him annually. We have seen a couple of CF specialists and yes, he is currently being seen by one now. He has recently had a positive sweat test again, so that is not good. They have thrown around the words "Atypical" (which I know isn't a popular thing to say on this board) and "CFTR Metabolic Syndrome". We'll find out more soon. I have always done some physio here and there for my own peace of mind, but not enough to brag about. I am actually awaiting the call from our CF doc to see what he wants us to do from now on at this point.

-M

annonymous · Mar 5, 2010

Piper...
Thanks so much for responding! We did treatments for a brief time because he did have CF Dx when he was a baby due to a positive NBS and positive sweat test. Because we did the NBS before he was 24 hours old, we were asked to redo it and the 2nd NBS was negative, which started the confusion. His sweat tests then started falling into the borderline range. All other testing kept coming back normal and he continued to do well (health, weight, etc.), so they changed him to carrier status and wanted to see him annually. We have seen a couple of CF specialists and yes, he is currently being seen by one now. He has recently had a positive sweat test again, so that is not good. They have thrown around the words "Atypical" (which I know isn't a popular thing to say on this board) and "CFTR Metabolic Syndrome". We'll find out more soon. I have always done some physio here and there for my own peace of mind, but not enough to brag about. I am actually awaiting the call from our CF doc to see what he wants us to do from now on at this point.

-M

annonymous · Mar 5, 2010

Piper...
 Thanks so much for responding! We did treatments for a brief time because he did have CF Dx when he was a baby due to a positive NBS and positive sweat test. Because we did the NBS before he was 24 hours old, we were asked to redo it and the 2nd NBS was negative, which started the confusion. His sweat tests then started falling into the borderline range. All other testing kept coming back normal and he continued to do well (health, weight, etc.), so they changed him to carrier status and wanted to see him annually. We have seen a couple of CF specialists and yes, he is currently being seen by one now. He has recently had a positive sweat test again, so that is not good. They have thrown around the words "Atypical" (which I know isn't a popular thing to say on this board) and "CFTR Metabolic Syndrome". We'll find out more soon. I have always done some physio here and there for my own peace of mind, but not enough to brag about. I am actually awaiting the call from our CF doc to see what he wants us to do from now on at this point.
 
 -M

Mommafirst · Mar 6, 2010

I wish you had more response, Misty. I know that you and I were in the same boat for awhile in the beginning. I so wish that Alyssa was not symptomatic, but I'm thrilled that you guys are still doing so well. I hope he continues like this forever!!!

Glad to see you still around, and I'm so sorry that the not knowing is always going to haunt you. I can completely understand. (((hugs)))

Mommafirst · Mar 6, 2010

I wish you had more response, Misty. I know that you and I were in the same boat for awhile in the beginning. I so wish that Alyssa was not symptomatic, but I'm thrilled that you guys are still doing so well. I hope he continues like this forever!!!

Glad to see you still around, and I'm so sorry that the not knowing is always going to haunt you. I can completely understand. (((hugs)))

Mommafirst · Mar 6, 2010

I wish you had more response, Misty. I know that you and I were in the same boat for awhile in the beginning. I so wish that Alyssa was not symptomatic, but I'm thrilled that you guys are still doing so well. I hope he continues like this forever!!!

Glad to see you still around, and I'm so sorry that the not knowing is always going to haunt you. I can completely understand. (((hugs)))

Mommafirst · Mar 6, 2010

I wish you had more response, Misty. I know that you and I were in the same boat for awhile in the beginning. I so wish that Alyssa was not symptomatic, but I'm thrilled that you guys are still doing so well. I hope he continues like this forever!!!

Glad to see you still around, and I'm so sorry that the not knowing is always going to haunt you. I can completely understand. (((hugs)))

Mommafirst · Mar 6, 2010

I wish you had more response, Misty. I know that you and I were in the same boat for awhile in the beginning. I so wish that Alyssa was not symptomatic, but I'm thrilled that you guys are still doing so well. I hope he continues like this forever!!!
 
 Glad to see you still around, and I'm so sorry that the not knowing is always going to haunt you. I can completely understand. (((hugs)))

Over 4 years later and still no symptoms.....

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