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

[SarahProcter]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>annonymous</b></i>

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. </end quote></div>

We're in the same diagnostic boat - the "we think it may not be CF, but rather CFTR Metabolic Syndrome, only we're not sure yet because CFTR MS is still being defined, so we need to wait and see, but at worst, it's atypical CF" situation. And no one, absolutely no one, knows what that really means or what to expect. So we take my daughter to the CF clinic every couple of months and report every cough and do tons of tests, and not much else, as she doesn't need medications, and we do some minimal CPT just so that she stays used to it. I prefer the uncertainty to the certainty that terrible clinical symptoms would present, but it still sucks.

 

[SarahProcter]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>annonymous</b></i>

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. </end quote></div>

We're in the same diagnostic boat - the "we think it may not be CF, but rather CFTR Metabolic Syndrome, only we're not sure yet because CFTR MS is still being defined, so we need to wait and see, but at worst, it's atypical CF" situation. And no one, absolutely no one, knows what that really means or what to expect. So we take my daughter to the CF clinic every couple of months and report every cough and do tons of tests, and not much else, as she doesn't need medications, and we do some minimal CPT just so that she stays used to it. I prefer the uncertainty to the certainty that terrible clinical symptoms would present, but it still sucks.

 

[SarahProcter]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>annonymous</b></i>

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. </end quote></div>

We're in the same diagnostic boat - the "we think it may not be CF, but rather CFTR Metabolic Syndrome, only we're not sure yet because CFTR MS is still being defined, so we need to wait and see, but at worst, it's atypical CF" situation. And no one, absolutely no one, knows what that really means or what to expect. So we take my daughter to the CF clinic every couple of months and report every cough and do tons of tests, and not much else, as she doesn't need medications, and we do some minimal CPT just so that she stays used to it. I prefer the uncertainty to the certainty that terrible clinical symptoms would present, but it still sucks.

 

[SarahProcter]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>annonymous</b></i>

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. </end quote>

We're in the same diagnostic boat - the "we think it may not be CF, but rather CFTR Metabolic Syndrome, only we're not sure yet because CFTR MS is still being defined, so we need to wait and see, but at worst, it's atypical CF" situation. And no one, absolutely no one, knows what that really means or what to expect. So we take my daughter to the CF clinic every couple of months and report every cough and do tons of tests, and not much else, as she doesn't need medications, and we do some minimal CPT just so that she stays used to it. I prefer the uncertainty to the certainty that terrible clinical symptoms would present, but it still sucks.

 

[SarahProcter]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>annonymous</b></i>
<br />
<br />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. </end quote>
<br />
<br />We're in the same diagnostic boat - the "we think it may not be CF, but rather CFTR Metabolic Syndrome, only we're not sure yet because CFTR MS is still being defined, so we need to wait and see, but at worst, it's atypical CF" situation. And no one, absolutely no one, knows what that really means or what to expect. So we take my daughter to the CF clinic every couple of months and report every cough and do tons of tests, and not much else, as she doesn't need medications, and we do some minimal CPT just so that she stays used to it. I prefer the uncertainty to the certainty that terrible clinical symptoms would present, but it still sucks.
<br />
<br />

 

[petnurse]

I just wanted to share my story too. My baby is 8 months old. Diagnosed by NBS and sweat test. He was definitely a positive sweat test. He also has no symptoms. He has always been 75th percentile or above in weight and height. I would love to think (and sometimes sit in denial) that he will never get sick or be the typical CFer, but I know it is progressive. I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs. We do all of the preventative treatments and whatever they tell us to do. I am so encouraged to hear your child is still symptom free at 4years old. God bless you!

 

[petnurse]

I just wanted to share my story too. My baby is 8 months old. Diagnosed by NBS and sweat test. He was definitely a positive sweat test. He also has no symptoms. He has always been 75th percentile or above in weight and height. I would love to think (and sometimes sit in denial) that he will never get sick or be the typical CFer, but I know it is progressive. I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs. We do all of the preventative treatments and whatever they tell us to do. I am so encouraged to hear your child is still symptom free at 4years old. God bless you!

 

[petnurse]

I just wanted to share my story too. My baby is 8 months old. Diagnosed by NBS and sweat test. He was definitely a positive sweat test. He also has no symptoms. He has always been 75th percentile or above in weight and height. I would love to think (and sometimes sit in denial) that he will never get sick or be the typical CFer, but I know it is progressive. I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs. We do all of the preventative treatments and whatever they tell us to do. I am so encouraged to hear your child is still symptom free at 4years old. God bless you!

 

[petnurse]

I just wanted to share my story too. My baby is 8 months old. Diagnosed by NBS and sweat test. He was definitely a positive sweat test. He also has no symptoms. He has always been 75th percentile or above in weight and height. I would love to think (and sometimes sit in denial) that he will never get sick or be the typical CFer, but I know it is progressive. I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs. We do all of the preventative treatments and whatever they tell us to do. I am so encouraged to hear your child is still symptom free at 4years old. God bless you!

 

[petnurse]

I just wanted to share my story too. My baby is 8 months old. Diagnosed by NBS and sweat test. He was definitely a positive sweat test. He also has no symptoms. He has always been 75th percentile or above in weight and height. I would love to think (and sometimes sit in denial) that he will never get sick or be the typical CFer, but I know it is progressive. I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs. We do all of the preventative treatments and whatever they tell us to do. I am so encouraged to hear your child is still symptom free at 4years old. God bless you!

 

[hmw]

<div class="FTQUOTE"><begin quote>I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs.</end quote></div>
I could not agree more. If effective, proactive treatment is stopping symptoms before they occur and keeping children healthy for a much longer period of time, I feel very strongly that we shouldn't shoot ourselves in the foot, so to speak, and assume disease isn't present (and therefore allow our vigilance to slip... and not realize until after symptoms (and possible damage) set in what you are really dealing with.)

Emily blows pft's well over 100% right now on effective CF meds & vest. Maybe she would have *always* done so if she was dx'ed sooner and deemed 'atypical' due to this. But they were in the lower 90's at dx- which shows that effective treatment was necessary for her to reach the best functioning she was capable of.

I do think that annonymous's son could <i>possibly</i> be in a different situation right now. CFTR MS is still not quite proven as it's own entity... but this child is not proven yet as one with cf or as 'just' a carrier. If he has CF, one of his mutations is unknown. Genetically it can't be proven; it will be all about other ways to establish diagnosis (which is why I posted, since we are in this situation with my son.) How high have his 'positive' sweat tests been?

 

[hmw]

<div class="FTQUOTE"><begin quote>I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs.</end quote></div>
I could not agree more. If effective, proactive treatment is stopping symptoms before they occur and keeping children healthy for a much longer period of time, I feel very strongly that we shouldn't shoot ourselves in the foot, so to speak, and assume disease isn't present (and therefore allow our vigilance to slip... and not realize until after symptoms (and possible damage) set in what you are really dealing with.)

Emily blows pft's well over 100% right now on effective CF meds & vest. Maybe she would have *always* done so if she was dx'ed sooner and deemed 'atypical' due to this. But they were in the lower 90's at dx- which shows that effective treatment was necessary for her to reach the best functioning she was capable of.

I do think that annonymous's son could <i>possibly</i> be in a different situation right now. CFTR MS is still not quite proven as it's own entity... but this child is not proven yet as one with cf or as 'just' a carrier. If he has CF, one of his mutations is unknown. Genetically it can't be proven; it will be all about other ways to establish diagnosis (which is why I posted, since we are in this situation with my son.) How high have his 'positive' sweat tests been?

 

[hmw]

<div class="FTQUOTE"><begin quote>I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs.</end quote></div>
I could not agree more. If effective, proactive treatment is stopping symptoms before they occur and keeping children healthy for a much longer period of time, I feel very strongly that we shouldn't shoot ourselves in the foot, so to speak, and assume disease isn't present (and therefore allow our vigilance to slip... and not realize until after symptoms (and possible damage) set in what you are really dealing with.)

Emily blows pft's well over 100% right now on effective CF meds & vest. Maybe she would have *always* done so if she was dx'ed sooner and deemed 'atypical' due to this. But they were in the lower 90's at dx- which shows that effective treatment was necessary for her to reach the best functioning she was capable of.

I do think that annonymous's son could <i>possibly</i> be in a different situation right now. CFTR MS is still not quite proven as it's own entity... but this child is not proven yet as one with cf or as 'just' a carrier. If he has CF, one of his mutations is unknown. Genetically it can't be proven; it will be all about other ways to establish diagnosis (which is why I posted, since we are in this situation with my son.) How high have his 'positive' sweat tests been?

 

[hmw]

<div class="FTQUOTE"><begin quote>I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs.</end quote>
I could not agree more. If effective, proactive treatment is stopping symptoms before they occur and keeping children healthy for a much longer period of time, I feel very strongly that we shouldn't shoot ourselves in the foot, so to speak, and assume disease isn't present (and therefore allow our vigilance to slip... and not realize until after symptoms (and possible damage) set in what you are really dealing with.)

Emily blows pft's well over 100% right now on effective CF meds & vest. Maybe she would have *always* done so if she was dx'ed sooner and deemed 'atypical' due to this. But they were in the lower 90's at dx- which shows that effective treatment was necessary for her to reach the best functioning she was capable of.

I do think that annonymous's son could <i>possibly</i> be in a different situation right now. CFTR MS is still not quite proven as it's own entity... but this child is not proven yet as one with cf or as 'just' a carrier. If he has CF, one of his mutations is unknown. Genetically it can't be proven; it will be all about other ways to establish diagnosis (which is why I posted, since we are in this situation with my son.) How high have his 'positive' sweat tests been?

 

[hmw]

<div class="FTQUOTE"><begin quote>I really do believe that they are throwing around "atypical" and "mild" CF because so many children are being caught before lung damage occurs.</end quote>
<br />I could not agree more. If effective, proactive treatment is stopping symptoms before they occur and keeping children healthy for a much longer period of time, I feel very strongly that we shouldn't shoot ourselves in the foot, so to speak, and assume disease isn't present (and therefore allow our vigilance to slip... and not realize until after symptoms (and possible damage) set in what you are really dealing with.)
<br />
<br />Emily blows pft's well over 100% right now on effective CF meds & vest. Maybe she would have *always* done so if she was dx'ed sooner and deemed 'atypical' due to this. But they were in the lower 90's at dx- which shows that effective treatment was necessary for her to reach the best functioning she was capable of.
<br />
<br />I do think that annonymous's son could <i>possibly</i> be in a different situation right now. CFTR MS is still not quite proven as it's own entity... but this child is not proven yet as one with cf or as 'just' a carrier. If he has CF, one of his mutations is unknown. Genetically it can't be proven; it will be all about other ways to establish diagnosis (which is why I posted, since we are in this situation with my son.) How high have his 'positive' sweat tests been?

 

[annonymous]

I really appreciate all of you who have responded.

HMW- Let me first say that I always enjoy reading your posts. You seem to have so much knowledge and information to share with others. <img src="i/expressions/face-icon-small-smile.gif" border="0">
My son has had positive sweat tests at and around 70. His borderline tests have been 50. This may seem silly, but I've often wondered if it is possible for someone to have bord./pos. sweat tests and NOT have CF, since people can have negative sweat tests and really HAVE CF. I mean, I hear over and over that CF is so complex and no two people are the same, etc. It's not like docs are out there sweat testing healthy kids very often. It's the NBS that is triggering a lot of the testing and so here we are. They started the NBS here just a few months before my son was born. Without it, we would never have suspected a thing. I guess that is the beauty of the NBS for so many kids who have unquestionable CF. Please don't get me wrong, I am not in a place of denial (anymore), but I have to have HOPE, right?
I can't help but think that the prognosis of people with CF is not just due to the advances in research and medicine, but also because of all of the "atypical" cases popping up and making CF look much less scary and making the CF centers look like they are doing a good job. One of our CF specialists told us that CF centers love having kids like my son, because his good health helps their numbers. I guess the centers are rated or something?? So, some centers would be quick to definitely say it's "CF", while our center is saying "we're not sure". Unfortunately, they will never be able to say that it's "not CF", and that is the hard part.

SarahProcter- When the docs started talking about CFTR MS, I was already aware and informed because of our conversation awhile back. Thank You. And you are so right about the uncertainty sucking! I never want to seem insensitive to those who are dealing with real symptoms, but the psychological hell of "limbo" is no joy ride. I hate coming here and saying that my kid is healthy and whining about the "possibility" of CF. I know that things could change in an instant. Too bad there is not a specific site for those considered atypical, cftr ms, limbo, etc.

 

[annonymous]

I really appreciate all of you who have responded.

HMW- Let me first say that I always enjoy reading your posts. You seem to have so much knowledge and information to share with others. <img src="i/expressions/face-icon-small-smile.gif" border="0">
My son has had positive sweat tests at and around 70. His borderline tests have been 50. This may seem silly, but I've often wondered if it is possible for someone to have bord./pos. sweat tests and NOT have CF, since people can have negative sweat tests and really HAVE CF. I mean, I hear over and over that CF is so complex and no two people are the same, etc. It's not like docs are out there sweat testing healthy kids very often. It's the NBS that is triggering a lot of the testing and so here we are. They started the NBS here just a few months before my son was born. Without it, we would never have suspected a thing. I guess that is the beauty of the NBS for so many kids who have unquestionable CF. Please don't get me wrong, I am not in a place of denial (anymore), but I have to have HOPE, right?
I can't help but think that the prognosis of people with CF is not just due to the advances in research and medicine, but also because of all of the "atypical" cases popping up and making CF look much less scary and making the CF centers look like they are doing a good job. One of our CF specialists told us that CF centers love having kids like my son, because his good health helps their numbers. I guess the centers are rated or something?? So, some centers would be quick to definitely say it's "CF", while our center is saying "we're not sure". Unfortunately, they will never be able to say that it's "not CF", and that is the hard part.

SarahProcter- When the docs started talking about CFTR MS, I was already aware and informed because of our conversation awhile back. Thank You. And you are so right about the uncertainty sucking! I never want to seem insensitive to those who are dealing with real symptoms, but the psychological hell of "limbo" is no joy ride. I hate coming here and saying that my kid is healthy and whining about the "possibility" of CF. I know that things could change in an instant. Too bad there is not a specific site for those considered atypical, cftr ms, limbo, etc.

 

[annonymous]

I really appreciate all of you who have responded.

HMW- Let me first say that I always enjoy reading your posts. You seem to have so much knowledge and information to share with others. <img src="i/expressions/face-icon-small-smile.gif" border="0">
My son has had positive sweat tests at and around 70. His borderline tests have been 50. This may seem silly, but I've often wondered if it is possible for someone to have bord./pos. sweat tests and NOT have CF, since people can have negative sweat tests and really HAVE CF. I mean, I hear over and over that CF is so complex and no two people are the same, etc. It's not like docs are out there sweat testing healthy kids very often. It's the NBS that is triggering a lot of the testing and so here we are. They started the NBS here just a few months before my son was born. Without it, we would never have suspected a thing. I guess that is the beauty of the NBS for so many kids who have unquestionable CF. Please don't get me wrong, I am not in a place of denial (anymore), but I have to have HOPE, right?
I can't help but think that the prognosis of people with CF is not just due to the advances in research and medicine, but also because of all of the "atypical" cases popping up and making CF look much less scary and making the CF centers look like they are doing a good job. One of our CF specialists told us that CF centers love having kids like my son, because his good health helps their numbers. I guess the centers are rated or something?? So, some centers would be quick to definitely say it's "CF", while our center is saying "we're not sure". Unfortunately, they will never be able to say that it's "not CF", and that is the hard part.

SarahProcter- When the docs started talking about CFTR MS, I was already aware and informed because of our conversation awhile back. Thank You. And you are so right about the uncertainty sucking! I never want to seem insensitive to those who are dealing with real symptoms, but the psychological hell of "limbo" is no joy ride. I hate coming here and saying that my kid is healthy and whining about the "possibility" of CF. I know that things could change in an instant. Too bad there is not a specific site for those considered atypical, cftr ms, limbo, etc.

 

[annonymous]

I really appreciate all of you who have responded.

HMW- Let me first say that I always enjoy reading your posts. You seem to have so much knowledge and information to share with others. <img src="i/expressions/face-icon-small-smile.gif" border="0">
My son has had positive sweat tests at and around 70. His borderline tests have been 50. This may seem silly, but I've often wondered if it is possible for someone to have bord./pos. sweat tests and NOT have CF, since people can have negative sweat tests and really HAVE CF. I mean, I hear over and over that CF is so complex and no two people are the same, etc. It's not like docs are out there sweat testing healthy kids very often. It's the NBS that is triggering a lot of the testing and so here we are. They started the NBS here just a few months before my son was born. Without it, we would never have suspected a thing. I guess that is the beauty of the NBS for so many kids who have unquestionable CF. Please don't get me wrong, I am not in a place of denial (anymore), but I have to have HOPE, right?
I can't help but think that the prognosis of people with CF is not just due to the advances in research and medicine, but also because of all of the "atypical" cases popping up and making CF look much less scary and making the CF centers look like they are doing a good job. One of our CF specialists told us that CF centers love having kids like my son, because his good health helps their numbers. I guess the centers are rated or something?? So, some centers would be quick to definitely say it's "CF", while our center is saying "we're not sure". Unfortunately, they will never be able to say that it's "not CF", and that is the hard part.

SarahProcter- When the docs started talking about CFTR MS, I was already aware and informed because of our conversation awhile back. Thank You. And you are so right about the uncertainty sucking! I never want to seem insensitive to those who are dealing with real symptoms, but the psychological hell of "limbo" is no joy ride. I hate coming here and saying that my kid is healthy and whining about the "possibility" of CF. I know that things could change in an instant. Too bad there is not a specific site for those considered atypical, cftr ms, limbo, etc.

 

[annonymous]

I really appreciate all of you who have responded.
<br />
<br />HMW- Let me first say that I always enjoy reading your posts. You seem to have so much knowledge and information to share with others. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />My son has had positive sweat tests at and around 70. His borderline tests have been 50. This may seem silly, but I've often wondered if it is possible for someone to have bord./pos. sweat tests and NOT have CF, since people can have negative sweat tests and really HAVE CF. I mean, I hear over and over that CF is so complex and no two people are the same, etc. It's not like docs are out there sweat testing healthy kids very often. It's the NBS that is triggering a lot of the testing and so here we are. They started the NBS here just a few months before my son was born. Without it, we would never have suspected a thing. I guess that is the beauty of the NBS for so many kids who have unquestionable CF. Please don't get me wrong, I am not in a place of denial (anymore), but I have to have HOPE, right?
<br />I can't help but think that the prognosis of people with CF is not just due to the advances in research and medicine, but also because of all of the "atypical" cases popping up and making CF look much less scary and making the CF centers look like they are doing a good job. One of our CF specialists told us that CF centers love having kids like my son, because his good health helps their numbers. I guess the centers are rated or something?? So, some centers would be quick to definitely say it's "CF", while our center is saying "we're not sure". Unfortunately, they will never be able to say that it's "not CF", and that is the hard part.
<br />
<br />SarahProcter- When the docs started talking about CFTR MS, I was already aware and informed because of our conversation awhile back. Thank You. And you are so right about the uncertainty sucking! I never want to seem insensitive to those who are dealing with real symptoms, but the psychological hell of "limbo" is no joy ride. I hate coming here and saying that my kid is healthy and whining about the "possibility" of CF. I know that things could change in an instant. Too bad there is not a specific site for those considered atypical, cftr ms, limbo, etc.
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