Should my son be teted?

mama9909 · Dec 17, 2009

My son was admitted to the hospital when he was 4 weeks old for failure to thrive and poor weight gain. Up until that point I had voiced my concern to his primary doctor about his stools looking "greasy". At that time I didnt even know what that could mean. During his hospital stay, through a stool test they found fat in his stool and low levels of lipase. He was put on a high calorie diet and given a sweat test, which came back negative. At the first visit with his GI Dr they told us that the test is sometimes not accurate. He is now 10 weeks old and had another GI appointment today. He has gained alot of weight and is now up to the 17th percentile for his weight so they do not see any reason to go ahead with genetic testing. I have told them my concern about his bowel movements which are almost always watery and very odorous. He will wake up from a sound sleep screaming at the top of his lungs. He has to be in so much pain. They are saying that it is just cholic and reflux. A week ago he started coughing and wheezing and was diagnosed with bronchiolitis.
It is so frustrating after being told by so many doctors that there is a possibility that he could have CF and then having them decide not to do any further testing!! Im still learning about this but from I understand it is a simple blood test. Simple on his part. Should I push the doctors to do genetic testing?? Does he have symptoms that sound like CF? Also from what I understand the sooner you get the Dx of CF the better outcome he could have.

Any advice anyone could give me would be so greatly appreciated.

mama9909 · Dec 17, 2009

My son was admitted to the hospital when he was 4 weeks old for failure to thrive and poor weight gain. Up until that point I had voiced my concern to his primary doctor about his stools looking "greasy". At that time I didnt even know what that could mean. During his hospital stay, through a stool test they found fat in his stool and low levels of lipase. He was put on a high calorie diet and given a sweat test, which came back negative. At the first visit with his GI Dr they told us that the test is sometimes not accurate. He is now 10 weeks old and had another GI appointment today. He has gained alot of weight and is now up to the 17th percentile for his weight so they do not see any reason to go ahead with genetic testing. I have told them my concern about his bowel movements which are almost always watery and very odorous. He will wake up from a sound sleep screaming at the top of his lungs. He has to be in so much pain. They are saying that it is just cholic and reflux. A week ago he started coughing and wheezing and was diagnosed with bronchiolitis.
It is so frustrating after being told by so many doctors that there is a possibility that he could have CF and then having them decide not to do any further testing!! Im still learning about this but from I understand it is a simple blood test. Simple on his part. Should I push the doctors to do genetic testing?? Does he have symptoms that sound like CF? Also from what I understand the sooner you get the Dx of CF the better outcome he could have.

Any advice anyone could give me would be so greatly appreciated.

mama9909 · Dec 17, 2009

My son was admitted to the hospital when he was 4 weeks old for failure to thrive and poor weight gain. Up until that point I had voiced my concern to his primary doctor about his stools looking "greasy". At that time I didnt even know what that could mean. During his hospital stay, through a stool test they found fat in his stool and low levels of lipase. He was put on a high calorie diet and given a sweat test, which came back negative. At the first visit with his GI Dr they told us that the test is sometimes not accurate. He is now 10 weeks old and had another GI appointment today. He has gained alot of weight and is now up to the 17th percentile for his weight so they do not see any reason to go ahead with genetic testing. I have told them my concern about his bowel movements which are almost always watery and very odorous. He will wake up from a sound sleep screaming at the top of his lungs. He has to be in so much pain. They are saying that it is just cholic and reflux. A week ago he started coughing and wheezing and was diagnosed with bronchiolitis.
It is so frustrating after being told by so many doctors that there is a possibility that he could have CF and then having them decide not to do any further testing!! Im still learning about this but from I understand it is a simple blood test. Simple on his part. Should I push the doctors to do genetic testing?? Does he have symptoms that sound like CF? Also from what I understand the sooner you get the Dx of CF the better outcome he could have.

Any advice anyone could give me would be so greatly appreciated.

mama9909 · Dec 17, 2009

My son was admitted to the hospital when he was 4 weeks old for failure to thrive and poor weight gain. Up until that point I had voiced my concern to his primary doctor about his stools looking "greasy". At that time I didnt even know what that could mean. During his hospital stay, through a stool test they found fat in his stool and low levels of lipase. He was put on a high calorie diet and given a sweat test, which came back negative. At the first visit with his GI Dr they told us that the test is sometimes not accurate. He is now 10 weeks old and had another GI appointment today. He has gained alot of weight and is now up to the 17th percentile for his weight so they do not see any reason to go ahead with genetic testing. I have told them my concern about his bowel movements which are almost always watery and very odorous. He will wake up from a sound sleep screaming at the top of his lungs. He has to be in so much pain. They are saying that it is just cholic and reflux. A week ago he started coughing and wheezing and was diagnosed with bronchiolitis.
It is so frustrating after being told by so many doctors that there is a possibility that he could have CF and then having them decide not to do any further testing!! Im still learning about this but from I understand it is a simple blood test. Simple on his part. Should I push the doctors to do genetic testing?? Does he have symptoms that sound like CF? Also from what I understand the sooner you get the Dx of CF the better outcome he could have.

Any advice anyone could give me would be so greatly appreciated.

mama9909 · Dec 17, 2009

My son was admitted to the hospital when he was 4 weeks old for failure to thrive and poor weight gain. Up until that point I had voiced my concern to his primary doctor about his stools looking "greasy". At that time I didnt even know what that could mean. During his hospital stay, through a stool test they found fat in his stool and low levels of lipase. He was put on a high calorie diet and given a sweat test, which came back negative. At the first visit with his GI Dr they told us that the test is sometimes not accurate. He is now 10 weeks old and had another GI appointment today. He has gained alot of weight and is now up to the 17th percentile for his weight so they do not see any reason to go ahead with genetic testing. I have told them my concern about his bowel movements which are almost always watery and very odorous. He will wake up from a sound sleep screaming at the top of his lungs. He has to be in so much pain. They are saying that it is just cholic and reflux. A week ago he started coughing and wheezing and was diagnosed with bronchiolitis.
 It is so frustrating after being told by so many doctors that there is a possibility that he could have CF and then having them decide not to do any further testing!! Im still learning about this but from I understand it is a simple blood test. Simple on his part. Should I push the doctors to do genetic testing?? Does he have symptoms that sound like CF? Also from what I understand the sooner you get the Dx of CF the better outcome he could have.
 
 Any advice anyone could give me would be so greatly appreciated.

Ratatosk · Dec 17, 2009

Yes, yes, yes! As a parent whose child who had similar symptoms and passed the sweat test with flying colors, please ask for further genetic testing. DS' had a blood test, which tested for about 50 of the most common mutations and that DID show he had CF.

Did they put him on digestive enzymes based on the fecal fat test? Are there any CF clinics in your area?

IMO, go back to your doctor and request further genetic testing. If they refuse, then ask them to write that in your son's file "parents requested genetic testing and we declined because..."

Ratatosk · Dec 17, 2009

Yes, yes, yes! As a parent whose child who had similar symptoms and passed the sweat test with flying colors, please ask for further genetic testing. DS' had a blood test, which tested for about 50 of the most common mutations and that DID show he had CF.

Did they put him on digestive enzymes based on the fecal fat test? Are there any CF clinics in your area?

IMO, go back to your doctor and request further genetic testing. If they refuse, then ask them to write that in your son's file "parents requested genetic testing and we declined because..."

Ratatosk · Dec 17, 2009

Yes, yes, yes! As a parent whose child who had similar symptoms and passed the sweat test with flying colors, please ask for further genetic testing. DS' had a blood test, which tested for about 50 of the most common mutations and that DID show he had CF.

Did they put him on digestive enzymes based on the fecal fat test? Are there any CF clinics in your area?

IMO, go back to your doctor and request further genetic testing. If they refuse, then ask them to write that in your son's file "parents requested genetic testing and we declined because..."

Ratatosk · Dec 17, 2009

Yes, yes, yes! As a parent whose child who had similar symptoms and passed the sweat test with flying colors, please ask for further genetic testing. DS' had a blood test, which tested for about 50 of the most common mutations and that DID show he had CF.

Did they put him on digestive enzymes based on the fecal fat test? Are there any CF clinics in your area?

IMO, go back to your doctor and request further genetic testing. If they refuse, then ask them to write that in your son's file "parents requested genetic testing and we declined because..."

Ratatosk · Dec 17, 2009

Yes, yes, yes! As a parent whose child who had similar symptoms and passed the sweat test with flying colors, please ask for further genetic testing. DS' had a blood test, which tested for about 50 of the most common mutations and that DID show he had CF.
 
 Did they put him on digestive enzymes based on the fecal fat test? Are there any CF clinics in your area?
 
 IMO, go back to your doctor and request further genetic testing. If they refuse, then ask them to write that in your son's file "parents requested genetic testing and we declined because..."

hmw · Dec 17, 2009

He is at a peak age for colic, so I can understand why many pediatricians would be pretty quick to write off a lot of screaming at this age. And a lot of otherwise-healthy babies do have reflux, too.

However... the greasy stools that were found to have fat in them, remaining in a low percentile on the growth charts (he has gained, yes, but he's still low on the charts), reflux and now the respiratory infection at such a young age: I would want to look into it. Fat in the stools is not normal and while a high-cal formula is helping with weight gain, it shouldn't be used as a 'band-aid' (treating a symptom, not the underlying cause) if more is going on.

It may well NOT be CF, but given it's been considered as a possibility already and he has several suspicious symptoms, I do think it would be wise to rule it out. It's always important to take symptoms of illness very serious with an infant- and with flu season upon us, I'd want the respiratory symptoms being treated properly. Thus knowing the cause is vital!

About genetic testing: yes, the genetic testing is a blood test that can be done at any lab. There are two kinds of blood tests, though: a panel test, which tests for a preset selection of mutations, and another that analyzes the entire gene for mutations.

1. About a panel test: the good part- it's less expensive. The bad part- it only tests positive if someone has the mutations that are specifically looked for on the test. There are over 1,500 known mutations to date that will cause cf, and the panel tests generally do not look for anywhere near that many. So you may end up with a false-negative result.

2. About the gene-analysis (Ambry Amplified.) The bad part- it's more expensive. The very good part- it analyzes the gene for mutations (this is how so many have been discovered) as opposed to looking only for certain ones. There is a much, much greater chance of getting an accurate diagnosis this way. Once the dr orders the test, they will work with your insurance company to get it covered.

Some have had good results with the less expensive test first but if that one turns out negative and symptoms persist it can be even harder to get a firm diagnosis, delaying treatment if CF turns out to be the cause of the baby's symptoms and then a full gene analysis ends up being necessary anyway. So in my non-expert, mom opinion I'd personally recommend trying to get the full Ambry testing done right off.

I hope you can get to the bottom of everything going on with your baby! It's very difficult to know that something is wrong and not knowing what it is or how to help. Hang in there and please let us know how things turn out.

eta> I agree with Liza above: please try and have him seen by a CF clinic- your baby's pediatrician should be able to make a referral based on symptoms alone. While the GI was correct in telling you the negative sweat test can be meaningless, a CF team is much more knowledgeable in general about the rest of what is going on with your baby.

hmw · Dec 17, 2009

He is at a peak age for colic, so I can understand why many pediatricians would be pretty quick to write off a lot of screaming at this age. And a lot of otherwise-healthy babies do have reflux, too.

However... the greasy stools that were found to have fat in them, remaining in a low percentile on the growth charts (he has gained, yes, but he's still low on the charts), reflux and now the respiratory infection at such a young age: I would want to look into it. Fat in the stools is not normal and while a high-cal formula is helping with weight gain, it shouldn't be used as a 'band-aid' (treating a symptom, not the underlying cause) if more is going on.

It may well NOT be CF, but given it's been considered as a possibility already and he has several suspicious symptoms, I do think it would be wise to rule it out. It's always important to take symptoms of illness very serious with an infant- and with flu season upon us, I'd want the respiratory symptoms being treated properly. Thus knowing the cause is vital!

About genetic testing: yes, the genetic testing is a blood test that can be done at any lab. There are two kinds of blood tests, though: a panel test, which tests for a preset selection of mutations, and another that analyzes the entire gene for mutations.

1. About a panel test: the good part- it's less expensive. The bad part- it only tests positive if someone has the mutations that are specifically looked for on the test. There are over 1,500 known mutations to date that will cause cf, and the panel tests generally do not look for anywhere near that many. So you may end up with a false-negative result.

2. About the gene-analysis (Ambry Amplified.) The bad part- it's more expensive. The very good part- it analyzes the gene for mutations (this is how so many have been discovered) as opposed to looking only for certain ones. There is a much, much greater chance of getting an accurate diagnosis this way. Once the dr orders the test, they will work with your insurance company to get it covered.

Some have had good results with the less expensive test first but if that one turns out negative and symptoms persist it can be even harder to get a firm diagnosis, delaying treatment if CF turns out to be the cause of the baby's symptoms and then a full gene analysis ends up being necessary anyway. So in my non-expert, mom opinion I'd personally recommend trying to get the full Ambry testing done right off.

I hope you can get to the bottom of everything going on with your baby! It's very difficult to know that something is wrong and not knowing what it is or how to help. Hang in there and please let us know how things turn out.

eta> I agree with Liza above: please try and have him seen by a CF clinic- your baby's pediatrician should be able to make a referral based on symptoms alone. While the GI was correct in telling you the negative sweat test can be meaningless, a CF team is much more knowledgeable in general about the rest of what is going on with your baby.

hmw · Dec 17, 2009

He is at a peak age for colic, so I can understand why many pediatricians would be pretty quick to write off a lot of screaming at this age. And a lot of otherwise-healthy babies do have reflux, too.

However... the greasy stools that were found to have fat in them, remaining in a low percentile on the growth charts (he has gained, yes, but he's still low on the charts), reflux and now the respiratory infection at such a young age: I would want to look into it. Fat in the stools is not normal and while a high-cal formula is helping with weight gain, it shouldn't be used as a 'band-aid' (treating a symptom, not the underlying cause) if more is going on.

It may well NOT be CF, but given it's been considered as a possibility already and he has several suspicious symptoms, I do think it would be wise to rule it out. It's always important to take symptoms of illness very serious with an infant- and with flu season upon us, I'd want the respiratory symptoms being treated properly. Thus knowing the cause is vital!

About genetic testing: yes, the genetic testing is a blood test that can be done at any lab. There are two kinds of blood tests, though: a panel test, which tests for a preset selection of mutations, and another that analyzes the entire gene for mutations.

1. About a panel test: the good part- it's less expensive. The bad part- it only tests positive if someone has the mutations that are specifically looked for on the test. There are over 1,500 known mutations to date that will cause cf, and the panel tests generally do not look for anywhere near that many. So you may end up with a false-negative result.

2. About the gene-analysis (Ambry Amplified.) The bad part- it's more expensive. The very good part- it analyzes the gene for mutations (this is how so many have been discovered) as opposed to looking only for certain ones. There is a much, much greater chance of getting an accurate diagnosis this way. Once the dr orders the test, they will work with your insurance company to get it covered.

Some have had good results with the less expensive test first but if that one turns out negative and symptoms persist it can be even harder to get a firm diagnosis, delaying treatment if CF turns out to be the cause of the baby's symptoms and then a full gene analysis ends up being necessary anyway. So in my non-expert, mom opinion I'd personally recommend trying to get the full Ambry testing done right off.

I hope you can get to the bottom of everything going on with your baby! It's very difficult to know that something is wrong and not knowing what it is or how to help. Hang in there and please let us know how things turn out.

eta> I agree with Liza above: please try and have him seen by a CF clinic- your baby's pediatrician should be able to make a referral based on symptoms alone. While the GI was correct in telling you the negative sweat test can be meaningless, a CF team is much more knowledgeable in general about the rest of what is going on with your baby.

hmw · Dec 17, 2009

He is at a peak age for colic, so I can understand why many pediatricians would be pretty quick to write off a lot of screaming at this age. And a lot of otherwise-healthy babies do have reflux, too.

However... the greasy stools that were found to have fat in them, remaining in a low percentile on the growth charts (he has gained, yes, but he's still low on the charts), reflux and now the respiratory infection at such a young age: I would want to look into it. Fat in the stools is not normal and while a high-cal formula is helping with weight gain, it shouldn't be used as a 'band-aid' (treating a symptom, not the underlying cause) if more is going on.

It may well NOT be CF, but given it's been considered as a possibility already and he has several suspicious symptoms, I do think it would be wise to rule it out. It's always important to take symptoms of illness very serious with an infant- and with flu season upon us, I'd want the respiratory symptoms being treated properly. Thus knowing the cause is vital!

About genetic testing: yes, the genetic testing is a blood test that can be done at any lab. There are two kinds of blood tests, though: a panel test, which tests for a preset selection of mutations, and another that analyzes the entire gene for mutations.

1. About a panel test: the good part- it's less expensive. The bad part- it only tests positive if someone has the mutations that are specifically looked for on the test. There are over 1,500 known mutations to date that will cause cf, and the panel tests generally do not look for anywhere near that many. So you may end up with a false-negative result.

2. About the gene-analysis (Ambry Amplified.) The bad part- it's more expensive. The very good part- it analyzes the gene for mutations (this is how so many have been discovered) as opposed to looking only for certain ones. There is a much, much greater chance of getting an accurate diagnosis this way. Once the dr orders the test, they will work with your insurance company to get it covered.

Some have had good results with the less expensive test first but if that one turns out negative and symptoms persist it can be even harder to get a firm diagnosis, delaying treatment if CF turns out to be the cause of the baby's symptoms and then a full gene analysis ends up being necessary anyway. So in my non-expert, mom opinion I'd personally recommend trying to get the full Ambry testing done right off.

I hope you can get to the bottom of everything going on with your baby! It's very difficult to know that something is wrong and not knowing what it is or how to help. Hang in there and please let us know how things turn out.

eta> I agree with Liza above: please try and have him seen by a CF clinic- your baby's pediatrician should be able to make a referral based on symptoms alone. While the GI was correct in telling you the negative sweat test can be meaningless, a CF team is much more knowledgeable in general about the rest of what is going on with your baby.

hmw · Dec 17, 2009

He is at a peak age for colic, so I can understand why many pediatricians would be pretty quick to write off a lot of screaming at this age. And a lot of otherwise-healthy babies do have reflux, too.
 
 However... the greasy stools that were found to have fat in them, remaining in a low percentile on the growth charts (he has gained, yes, but he's still low on the charts), reflux and now the respiratory infection at such a young age: I would want to look into it. Fat in the stools is not normal and while a high-cal formula is helping with weight gain, it shouldn't be used as a 'band-aid' (treating a symptom, not the underlying cause) if more is going on.
 
 It may well NOT be CF, but given it's been considered as a possibility already and he has several suspicious symptoms, I do think it would be wise to rule it out. It's always important to take symptoms of illness very serious with an infant- and with flu season upon us, I'd want the respiratory symptoms being treated properly. Thus knowing the cause is vital!
 
 About genetic testing: yes, the genetic testing is a blood test that can be done at any lab. There are two kinds of blood tests, though: a panel test, which tests for a preset selection of mutations, and another that analyzes the entire gene for mutations.
 
 1. About a panel test: the good part- it's less expensive. The bad part- it only tests positive if someone has the mutations that are specifically looked for on the test. There are over 1,500 known mutations to date that will cause cf, and the panel tests generally do not look for anywhere near that many. So you may end up with a false-negative result.
 
 2. About the gene-analysis (Ambry Amplified.) The bad part- it's more expensive. The very good part- it analyzes the gene for mutations (this is how so many have been discovered) as opposed to looking only for certain ones. There is a much, much greater chance of getting an accurate diagnosis this way. Once the dr orders the test, they will work with your insurance company to get it covered.
 
 Some have had good results with the less expensive test first but if that one turns out negative and symptoms persist it can be even harder to get a firm diagnosis, delaying treatment if CF turns out to be the cause of the baby's symptoms and then a full gene analysis ends up being necessary anyway. So in my non-expert, mom opinion I'd personally recommend trying to get the full Ambry testing done right off.
 
 I hope you can get to the bottom of everything going on with your baby! It's very difficult to know that something is wrong and not knowing what it is or how to help. Hang in there and please let us know how things turn out.
 
 eta> I agree with Liza above: please try and have him seen by a CF clinic- your baby's pediatrician should be able to make a referral based on symptoms alone. While the GI was correct in telling you the negative sweat test can be meaningless, a CF team is much more knowledgeable in general about the rest of what is going on with your baby.

JORDYSMOM · Dec 21, 2009

Hi there. I have to echo the previous posters. I was told that my son had cholic & reflux, and food allergies. If I'd known then what I know now, I'd have pushed for further testing. He was 15 before someone finally took his symptoms seriously enough to test for CF.

I really think that you should try to get the testing. I hope you find what it takes to make your child feel better and get healthy. Let us know what happens.

Stacey

JORDYSMOM · Dec 21, 2009

Hi there. I have to echo the previous posters. I was told that my son had cholic & reflux, and food allergies. If I'd known then what I know now, I'd have pushed for further testing. He was 15 before someone finally took his symptoms seriously enough to test for CF.

I really think that you should try to get the testing. I hope you find what it takes to make your child feel better and get healthy. Let us know what happens.

Stacey

JORDYSMOM · Dec 21, 2009

Hi there. I have to echo the previous posters. I was told that my son had cholic & reflux, and food allergies. If I'd known then what I know now, I'd have pushed for further testing. He was 15 before someone finally took his symptoms seriously enough to test for CF.

I really think that you should try to get the testing. I hope you find what it takes to make your child feel better and get healthy. Let us know what happens.

Stacey

JORDYSMOM · Dec 21, 2009

Hi there. I have to echo the previous posters. I was told that my son had cholic & reflux, and food allergies. If I'd known then what I know now, I'd have pushed for further testing. He was 15 before someone finally took his symptoms seriously enough to test for CF.

I really think that you should try to get the testing. I hope you find what it takes to make your child feel better and get healthy. Let us know what happens.

Stacey

JORDYSMOM · Dec 21, 2009

Hi there. I have to echo the previous posters. I was told that my son had cholic & reflux, and food allergies. If I'd known then what I know now, I'd have pushed for further testing. He was 15 before someone finally took his symptoms seriously enough to test for CF.
 
 I really think that you should try to get the testing. I hope you find what it takes to make your child feel better and get healthy. Let us know what happens.
 
 Stacey

Should my son be teted?

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