Testing for 12 y.o.

[qzsue]

I have a question that maybe someone might have a little insight to...

Our son, 12, has been having issues since he was born. The issues are constipation, acid reflux, on and off bronchitis and pneumonia. We recently had him seen by a specialist who is going to run several tests on him. One of the tests will be a "sweat test" for CF. 13 years ago while I was pregnant, I underwent a CVS for several testings and one was CF (my husband) has a first cousin with CF. That test came back negative. Can a person develop CF later in life even though tested negative in utero?

Thank you!!

 

[qzsue]

I have a question that maybe someone might have a little insight to...

Our son, 12, has been having issues since he was born. The issues are constipation, acid reflux, on and off bronchitis and pneumonia. We recently had him seen by a specialist who is going to run several tests on him. One of the tests will be a "sweat test" for CF. 13 years ago while I was pregnant, I underwent a CVS for several testings and one was CF (my husband) has a first cousin with CF. That test came back negative. Can a person develop CF later in life even though tested negative in utero?

Thank you!!

 

[qzsue]

I have a question that maybe someone might have a little insight to...
<br />
<br />Our son, 12, has been having issues since he was born. The issues are constipation, acid reflux, on and off bronchitis and pneumonia. We recently had him seen by a specialist who is going to run several tests on him. One of the tests will be a "sweat test" for CF. 13 years ago while I was pregnant, I underwent a CVS for several testings and one was CF (my husband) has a first cousin with CF. That test came back negative. Can a person develop CF later in life even though tested negative in utero?
<br />
<br />Thank you!!

 

[mommy2diego]

Maybe it's possible that they tested for mutations that hadn't been discovered yet? There have been hundreds that they have found in the last 13 years. Maybe they tested the sample for the common mutations. I would go forward with the sweat test with your son, and and also request Ambry Full panel genetic testing, just to make sure. (some people have neg. sweat test, but still have 2 mutations) You wont feel at peace until you have both of these done.

best of luck

 

[mommy2diego]

Maybe it's possible that they tested for mutations that hadn't been discovered yet? There have been hundreds that they have found in the last 13 years. Maybe they tested the sample for the common mutations. I would go forward with the sweat test with your son, and and also request Ambry Full panel genetic testing, just to make sure. (some people have neg. sweat test, but still have 2 mutations) You wont feel at peace until you have both of these done.

best of luck

 

[mommy2diego]

Maybe it's possible that they tested for mutations that hadn't been discovered yet? There have been hundreds that they have found in the last 13 years. Maybe they tested the sample for the common mutations. I would go forward with the sweat test with your son, and and also request Ambry Full panel genetic testing, just to make sure. (some people have neg. sweat test, but still have 2 mutations) You wont feel at peace until you have both of these done.
<br />
<br />best of luck

 

[ktsmom]

A person has CF when each parent passes a mutated CFTR gene. Today, there are over 1,500 known mutations of this gene. There can be different clinical presentations of CF, even among people who have the same mutations.

All of this to say: I don't know what mutations were tested for in a CVS done 12 years ago. No, a person does not develop CF later in life. They are born with it, but the disease might manifest itself differently or in more subtle ways depending on the mutations and (possibly) other factors.

I know this can be confusing, and I think that it will only get more so, because for your specific situation my recommendation is full genetic testing. Unfortunately, even a "normal" sweat test result might not mean that your son does not have CF. Given the family history and your son's symptoms, I would encourage you to ask for full genetic testing done by Ambry. Good luck, and please keep us posted.

 

[ktsmom]

A person has CF when each parent passes a mutated CFTR gene. Today, there are over 1,500 known mutations of this gene. There can be different clinical presentations of CF, even among people who have the same mutations.

All of this to say: I don't know what mutations were tested for in a CVS done 12 years ago. No, a person does not develop CF later in life. They are born with it, but the disease might manifest itself differently or in more subtle ways depending on the mutations and (possibly) other factors.

I know this can be confusing, and I think that it will only get more so, because for your specific situation my recommendation is full genetic testing. Unfortunately, even a "normal" sweat test result might not mean that your son does not have CF. Given the family history and your son's symptoms, I would encourage you to ask for full genetic testing done by Ambry. Good luck, and please keep us posted.

 

[ktsmom]

A person has CF when each parent passes a mutated CFTR gene. Today, there are over 1,500 known mutations of this gene. There can be different clinical presentations of CF, even among people who have the same mutations.
<br />
<br />All of this to say: I don't know what mutations were tested for in a CVS done 12 years ago. No, a person does not develop CF later in life. They are born with it, but the disease might manifest itself differently or in more subtle ways depending on the mutations and (possibly) other factors.
<br />
<br />I know this can be confusing, and I think that it will only get more so, because for your specific situation my recommendation is full genetic testing. Unfortunately, even a "normal" sweat test result might not mean that your son does not have CF. Given the family history and your son's symptoms, I would encourage you to ask for full genetic testing done by Ambry. Good luck, and please keep us posted.

 

[Mommafirst]

Dana and Andrea gave you good advice.

I think the bottom line is that the only way to answer your question is to know exactly what was tested for 13 years ago. They've learned a lot in 13 years about the genetic mutations that cause CF and it certainly possible that they didn't find then, what they would find now. I'm glad that your doctor isn't ruling CF out based on an old CMV.

Best of luck!!

 

[Mommafirst]

Dana and Andrea gave you good advice.

I think the bottom line is that the only way to answer your question is to know exactly what was tested for 13 years ago. They've learned a lot in 13 years about the genetic mutations that cause CF and it certainly possible that they didn't find then, what they would find now. I'm glad that your doctor isn't ruling CF out based on an old CMV.

Best of luck!!

 

[Mommafirst]

Dana and Andrea gave you good advice.
<br />
<br />I think the bottom line is that the only way to answer your question is to know exactly what was tested for 13 years ago. They've learned a lot in 13 years about the genetic mutations that cause CF and it certainly possible that they didn't find then, what they would find now. I'm glad that your doctor isn't ruling CF out based on an old CMV.
<br />
<br />Best of luck!!

 

[qzsue]

Thank you all for responding so quickly. We are at the point now, that our primary concern is getting him treated and whatever the dianosis may be is secondary. For the past three years we have been treating the GERD, and finally the ped. strongly suggested a specialist. He was born at the end of my 34th week, one week in NICU. For the first year was on Nutramigen and would spit up puddles. Acid reflux for many years. As stated earlier, he has struggled with constipation since his second day of life. Praise God he has not had a bout of pneumonia or bronchitis in four years, but he does a cough that could knock an elephant over. Thank you again.

 

[qzsue]

Thank you all for responding so quickly. We are at the point now, that our primary concern is getting him treated and whatever the dianosis may be is secondary. For the past three years we have been treating the GERD, and finally the ped. strongly suggested a specialist. He was born at the end of my 34th week, one week in NICU. For the first year was on Nutramigen and would spit up puddles. Acid reflux for many years. As stated earlier, he has struggled with constipation since his second day of life. Praise God he has not had a bout of pneumonia or bronchitis in four years, but he does a cough that could knock an elephant over. Thank you again.

 

[qzsue]

Thank you all for responding so quickly. We are at the point now, that our primary concern is getting him treated and whatever the dianosis may be is secondary. For the past three years we have been treating the GERD, and finally the ped. strongly suggested a specialist. He was born at the end of my 34th week, one week in NICU. For the first year was on Nutramigen and would spit up puddles. Acid reflux for many years. As stated earlier, he has struggled with constipation since his second day of life. Praise God he has not had a bout of pneumonia or bronchitis in four years, but he does a cough that could knock an elephant over. Thank you again.