My son is 5 1/2 months old and was diagnosed through newborn screening. He has a borderline sweat test score, and I'm trying to understand exactly what that means. Our doctor said that a borderline score hopefully means later onset of symptoms and more mild symptoms - but I'm not exactly sure what that means. I've been reading other postings and know there are several other people whose children tested in the borderline range. He began treatment at 3 weeks and is currently doing albuterol and pulmicort twice a day. The pulmicort is recent and was because he began exhibiting "asthma-like" symptoms, he's breathing better but the Dr. wants to continue him on it for at least 3 more months. He doesn't have the enzyme deficiency so he's gaining weight. I'm just trying to understand what I should expect - especially since there seems to be so much conflicting information about borderline scores. Thanks for helping/listening.<img src="i/expressions/face-icon-small-confused.gif" border="0">
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Borderline sweat test
- Thread starter MHfour
- Start date
My son is 5 1/2 months old and was diagnosed through newborn screening. He has a borderline sweat test score, and I'm trying to understand exactly what that means. Our doctor said that a borderline score hopefully means later onset of symptoms and more mild symptoms - but I'm not exactly sure what that means. I've been reading other postings and know there are several other people whose children tested in the borderline range. He began treatment at 3 weeks and is currently doing albuterol and pulmicort twice a day. The pulmicort is recent and was because he began exhibiting "asthma-like" symptoms, he's breathing better but the Dr. wants to continue him on it for at least 3 more months. He doesn't have the enzyme deficiency so he's gaining weight. I'm just trying to understand what I should expect - especially since there seems to be so much conflicting information about borderline scores. Thanks for helping/listening.<img src="i/expressions/face-icon-small-confused.gif" border="0">
First off, welcome to the site!
in all honesty, your doctor is on crack. Take your son it an accredited CF center immediately (you can find them at <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>)! The #'s on a borderline sweat test indicate NOTHING, absolutely nothing about the serverity of CF. There is currently research going on to determine of the type of CF mutation determines the severity of the CF but everything points to NO. Even twins with the same mutations (or siblings) have an arry of different problems so there is research going on about a possible modifier but nothing yet....
I would also recommend a genetic test since the sweat tests is borderline (unless you get retested at an accredited CF center and it is positive or negative)
I am sure we will have many more questions so please do come back for some more support, were here to help!
in all honesty, your doctor is on crack. Take your son it an accredited CF center immediately (you can find them at <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>)! The #'s on a borderline sweat test indicate NOTHING, absolutely nothing about the serverity of CF. There is currently research going on to determine of the type of CF mutation determines the severity of the CF but everything points to NO. Even twins with the same mutations (or siblings) have an arry of different problems so there is research going on about a possible modifier but nothing yet....
I would also recommend a genetic test since the sweat tests is borderline (unless you get retested at an accredited CF center and it is positive or negative)
I am sure we will have many more questions so please do come back for some more support, were here to help!
First off, welcome to the site!
in all honesty, your doctor is on crack. Take your son it an accredited CF center immediately (you can find them at <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>)! The #'s on a borderline sweat test indicate NOTHING, absolutely nothing about the serverity of CF. There is currently research going on to determine of the type of CF mutation determines the severity of the CF but everything points to NO. Even twins with the same mutations (or siblings) have an arry of different problems so there is research going on about a possible modifier but nothing yet....
I would also recommend a genetic test since the sweat tests is borderline (unless you get retested at an accredited CF center and it is positive or negative)
I am sure we will have many more questions so please do come back for some more support, were here to help!
in all honesty, your doctor is on crack. Take your son it an accredited CF center immediately (you can find them at <a target=new class=ftalternatingbarlinklarge href="http://www.cff.org">www.cff.org</a>)! The #'s on a borderline sweat test indicate NOTHING, absolutely nothing about the serverity of CF. There is currently research going on to determine of the type of CF mutation determines the severity of the CF but everything points to NO. Even twins with the same mutations (or siblings) have an arry of different problems so there is research going on about a possible modifier but nothing yet....
I would also recommend a genetic test since the sweat tests is borderline (unless you get retested at an accredited CF center and it is positive or negative)
I am sure we will have many more questions so please do come back for some more support, were here to help!
hi and welcome to the site,
The R117H mutation is known to result in borderline sweat tests. It is also known as a milder mutation because it allows partial functioning of the CFTR protein. However, if you search "R117H" you will find that this functioning depends on whether the R117H mutation is in the presence or absence of certain variants such as 5T. The 5T variant impairs the CFTR protein more severely.
It's all pretty confusing and I am certainly NOT a doctor. But I remember a thread about this mutation a while back and I researched the mutation. Unfortunately, as Julie commented even knowing genotypes and how they affect the CFTR protein does not always predict phenotype (the physical course of your child's illness).
I think its important to gain as much knowledge and background as you can, especially when your child shows early symptoms. But as time goes by the reality is that CF is extremely unpredictable. As a parent I just do everything I can to ensure that my daughter stays as healthy and happy as possible. I can say that in my daughter's case her respiratory problems were more severe as an infant. As she approaches the age of three and her lungs and airways have grown, she has had less problems and is healthier.
Maria (mother of three daughters, the youngest Samantha w/cf)
The R117H mutation is known to result in borderline sweat tests. It is also known as a milder mutation because it allows partial functioning of the CFTR protein. However, if you search "R117H" you will find that this functioning depends on whether the R117H mutation is in the presence or absence of certain variants such as 5T. The 5T variant impairs the CFTR protein more severely.
It's all pretty confusing and I am certainly NOT a doctor. But I remember a thread about this mutation a while back and I researched the mutation. Unfortunately, as Julie commented even knowing genotypes and how they affect the CFTR protein does not always predict phenotype (the physical course of your child's illness).
I think its important to gain as much knowledge and background as you can, especially when your child shows early symptoms. But as time goes by the reality is that CF is extremely unpredictable. As a parent I just do everything I can to ensure that my daughter stays as healthy and happy as possible. I can say that in my daughter's case her respiratory problems were more severe as an infant. As she approaches the age of three and her lungs and airways have grown, she has had less problems and is healthier.
Maria (mother of three daughters, the youngest Samantha w/cf)
hi and welcome to the site,
The R117H mutation is known to result in borderline sweat tests. It is also known as a milder mutation because it allows partial functioning of the CFTR protein. However, if you search "R117H" you will find that this functioning depends on whether the R117H mutation is in the presence or absence of certain variants such as 5T. The 5T variant impairs the CFTR protein more severely.
It's all pretty confusing and I am certainly NOT a doctor. But I remember a thread about this mutation a while back and I researched the mutation. Unfortunately, as Julie commented even knowing genotypes and how they affect the CFTR protein does not always predict phenotype (the physical course of your child's illness).
I think its important to gain as much knowledge and background as you can, especially when your child shows early symptoms. But as time goes by the reality is that CF is extremely unpredictable. As a parent I just do everything I can to ensure that my daughter stays as healthy and happy as possible. I can say that in my daughter's case her respiratory problems were more severe as an infant. As she approaches the age of three and her lungs and airways have grown, she has had less problems and is healthier.
Maria (mother of three daughters, the youngest Samantha w/cf)
The R117H mutation is known to result in borderline sweat tests. It is also known as a milder mutation because it allows partial functioning of the CFTR protein. However, if you search "R117H" you will find that this functioning depends on whether the R117H mutation is in the presence or absence of certain variants such as 5T. The 5T variant impairs the CFTR protein more severely.
It's all pretty confusing and I am certainly NOT a doctor. But I remember a thread about this mutation a while back and I researched the mutation. Unfortunately, as Julie commented even knowing genotypes and how they affect the CFTR protein does not always predict phenotype (the physical course of your child's illness).
I think its important to gain as much knowledge and background as you can, especially when your child shows early symptoms. But as time goes by the reality is that CF is extremely unpredictable. As a parent I just do everything I can to ensure that my daughter stays as healthy and happy as possible. I can say that in my daughter's case her respiratory problems were more severe as an infant. As she approaches the age of three and her lungs and airways have grown, she has had less problems and is healthier.
Maria (mother of three daughters, the youngest Samantha w/cf)
I see, that gives a bit more information. I hope you didnt' feel I was "yelling at you" or anyting. It's just really important to get treated at an accredited CF center.
Has your son had any testing for lung infections? That would be a question I would ask. Although I am married to a CFer and not a mother to one so I might not be too much help in that area. You might also want to post in the adults section. For some reason it seems to be getting a LOT more traffic lately.
Maybe we'll get some parents on here to help guide you in the right direction. Also, the SEARCH feature on the top right is great, you can look up key words like, "new diagnosis, just diagnosed, new..." and find some things from other's that have been posted while you wait for more responses.
Has your son had any testing for lung infections? That would be a question I would ask. Although I am married to a CFer and not a mother to one so I might not be too much help in that area. You might also want to post in the adults section. For some reason it seems to be getting a LOT more traffic lately.
Maybe we'll get some parents on here to help guide you in the right direction. Also, the SEARCH feature on the top right is great, you can look up key words like, "new diagnosis, just diagnosed, new..." and find some things from other's that have been posted while you wait for more responses.
I see, that gives a bit more information. I hope you didnt' feel I was "yelling at you" or anyting. It's just really important to get treated at an accredited CF center.
Has your son had any testing for lung infections? That would be a question I would ask. Although I am married to a CFer and not a mother to one so I might not be too much help in that area. You might also want to post in the adults section. For some reason it seems to be getting a LOT more traffic lately.
Maybe we'll get some parents on here to help guide you in the right direction. Also, the SEARCH feature on the top right is great, you can look up key words like, "new diagnosis, just diagnosed, new..." and find some things from other's that have been posted while you wait for more responses.
Has your son had any testing for lung infections? That would be a question I would ask. Although I am married to a CFer and not a mother to one so I might not be too much help in that area. You might also want to post in the adults section. For some reason it seems to be getting a LOT more traffic lately.
Maybe we'll get some parents on here to help guide you in the right direction. Also, the SEARCH feature on the top right is great, you can look up key words like, "new diagnosis, just diagnosed, new..." and find some things from other's that have been posted while you wait for more responses.
Another thing to mention as that in babies, the sweat test isnt always reliable because they are not able to retrieve enough sweat. That might have been a reason for the results of the sweat test also. Since you know the mutations at least you know that your child has CF (no doubt) & that is the basic info you need to know. Whatever connection has been or will be connected between mutations & severity wouldnt be across the board. Like so many other things with CF a lot depends on the individual. That is it so important to take in information sent your way, but not to "expect" it to apply to your child. This is a great place to bounce ideas, thoughts & concerns. Chances are someone has dealt with whatever the issue is! Welcome!
Another thing to mention as that in babies, the sweat test isnt always reliable because they are not able to retrieve enough sweat. That might have been a reason for the results of the sweat test also. Since you know the mutations at least you know that your child has CF (no doubt) & that is the basic info you need to know. Whatever connection has been or will be connected between mutations & severity wouldnt be across the board. Like so many other things with CF a lot depends on the individual. That is it so important to take in information sent your way, but not to "expect" it to apply to your child. This is a great place to bounce ideas, thoughts & concerns. Chances are someone has dealt with whatever the issue is! Welcome!
Ds had a normal sweat test; however blood tests showed double delta f508, which is supposedly the most common CF mutation and I've heard most severe form. He was born with a bowel obstruction, has cultured pseudo and is pancreatic insufficient. I don't believe there's such a thing as mild cf -- it just progresses differently for people, plus it depends upon how agressive your doctor is -- proactive vs. reactive, when diagnosed. DS was diagnosed at birth, so we've been doing CPT and giving him meds since he was a newborn. Some people aren't diagnosed until much later in life after multiple infections, sinus problems, pneumonia.... Yeah, I was hopeful at first that DS would have a mild case, but there's no such thing
Ds had a normal sweat test; however blood tests showed double delta f508, which is supposedly the most common CF mutation and I've heard most severe form. He was born with a bowel obstruction, has cultured pseudo and is pancreatic insufficient. I don't believe there's such a thing as mild cf -- it just progresses differently for people, plus it depends upon how agressive your doctor is -- proactive vs. reactive, when diagnosed. DS was diagnosed at birth, so we've been doing CPT and giving him meds since he was a newborn. Some people aren't diagnosed until much later in life after multiple infections, sinus problems, pneumonia.... Yeah, I was hopeful at first that DS would have a mild case, but there's no such thing
Hi to all,
I don't know how true this is but i was also told that there are mild and severe cases of CF. I actually thought it was true. I asked my daughters doctor about it and he said every person with Cf is different,and suffers from it diff and at diff stages.He also said you can't compare each individual with CF they are all diff. There are people with CF that have not had symptoms until teenage years and older, but were still diagnosed as newborns.
I have also met people with CF, that have said they have mild CF, they wouldn't even know they had it.
ie: no daily pysio, no antibiiotics, and no hospital visits and the women is age 25-30.
My brother in-law also works with a 48yrold women with CF, who claims hers is mild. She hasn't had much problems either and is very healthy for a women of her age with CF.
Hope that helps!
Eli<img src="i/expressions/face-icon-small-happy.gif" border="0">
I don't know how true this is but i was also told that there are mild and severe cases of CF. I actually thought it was true. I asked my daughters doctor about it and he said every person with Cf is different,and suffers from it diff and at diff stages.He also said you can't compare each individual with CF they are all diff. There are people with CF that have not had symptoms until teenage years and older, but were still diagnosed as newborns.
I have also met people with CF, that have said they have mild CF, they wouldn't even know they had it.
ie: no daily pysio, no antibiiotics, and no hospital visits and the women is age 25-30.
My brother in-law also works with a 48yrold women with CF, who claims hers is mild. She hasn't had much problems either and is very healthy for a women of her age with CF.
Hope that helps!
Eli<img src="i/expressions/face-icon-small-happy.gif" border="0">
Hi to all,
I don't know how true this is but i was also told that there are mild and severe cases of CF. I actually thought it was true. I asked my daughters doctor about it and he said every person with Cf is different,and suffers from it diff and at diff stages.He also said you can't compare each individual with CF they are all diff. There are people with CF that have not had symptoms until teenage years and older, but were still diagnosed as newborns.
I have also met people with CF, that have said they have mild CF, they wouldn't even know they had it.
ie: no daily pysio, no antibiiotics, and no hospital visits and the women is age 25-30.
My brother in-law also works with a 48yrold women with CF, who claims hers is mild. She hasn't had much problems either and is very healthy for a women of her age with CF.
Hope that helps!
Eli<img src="i/expressions/face-icon-small-happy.gif" border="0">
I don't know how true this is but i was also told that there are mild and severe cases of CF. I actually thought it was true. I asked my daughters doctor about it and he said every person with Cf is different,and suffers from it diff and at diff stages.He also said you can't compare each individual with CF they are all diff. There are people with CF that have not had symptoms until teenage years and older, but were still diagnosed as newborns.
I have also met people with CF, that have said they have mild CF, they wouldn't even know they had it.
ie: no daily pysio, no antibiiotics, and no hospital visits and the women is age 25-30.
My brother in-law also works with a 48yrold women with CF, who claims hers is mild. She hasn't had much problems either and is very healthy for a women of her age with CF.
Hope that helps!
Eli<img src="i/expressions/face-icon-small-happy.gif" border="0">
Sure, there are mild, moderate, severe... cases, but nobody is quite sure HOW it is determined (by mutation, by a modifier-something they are currently researching...) So yes, that is correct, some have very mild (say only digestive problems) while others have digestive, lungs, reproductive.... but it's just "OK" so they might be moderate, and then there are others who are always, sick, in and out of the hospital, on IV's and oxygen at a young age... that would probably be considered severe. The only thing the med. profession can't figure out is who and why because sibilings with the EXACT same mutation can have 1. sever and 1. mild.
And WELCOME to the site, it's a great family and hopefully you'll find a lot of assistance. This can be very frightening all at once so there are many parents here who have been in your shoes and many older CFers to help out too <img src="i/expressions/face-icon-small-smile.gif" border="0">
And WELCOME to the site, it's a great family and hopefully you'll find a lot of assistance. This can be very frightening all at once so there are many parents here who have been in your shoes and many older CFers to help out too <img src="i/expressions/face-icon-small-smile.gif" border="0">
Sure, there are mild, moderate, severe... cases, but nobody is quite sure HOW it is determined (by mutation, by a modifier-something they are currently researching...) So yes, that is correct, some have very mild (say only digestive problems) while others have digestive, lungs, reproductive.... but it's just "OK" so they might be moderate, and then there are others who are always, sick, in and out of the hospital, on IV's and oxygen at a young age... that would probably be considered severe. The only thing the med. profession can't figure out is who and why because sibilings with the EXACT same mutation can have 1. sever and 1. mild.
And WELCOME to the site, it's a great family and hopefully you'll find a lot of assistance. This can be very frightening all at once so there are many parents here who have been in your shoes and many older CFers to help out too <img src="i/expressions/face-icon-small-smile.gif" border="0">
And WELCOME to the site, it's a great family and hopefully you'll find a lot of assistance. This can be very frightening all at once so there are many parents here who have been in your shoes and many older CFers to help out too <img src="i/expressions/face-icon-small-smile.gif" border="0">