Very confused

Alyssa

New member
<b>CFHockeyMom</b> answered this very very nicely. I would think that with two CF genes, positive sweat test and classic CF symptoms you can pretty much rest assured that a CF diagnosis and treatment is the correct course of action.

<b>Sakem </b>does have a valid point about the two genes having to be on different strands of the DNA -- however with all the additional information about your son I cannot imagine this would be the case with him -- either they are on two different strands or like <b>peanut07</b> has said...perhaps they have missed a second gene that would be found if complete deletion and duplicate testing is done.

If it were me, I'd clarify with the geneticist but I wouldn't really expect to come out of this without a CF diagnosis... in fact without it might only do more harm than good if it caused him to not get the best monitoring and treatments available. Again, my advise might be different had you not described some very classic CF symptoms.
 

Alyssa

New member
<b>CFHockeyMom</b> answered this very very nicely. I would think that with two CF genes, positive sweat test and classic CF symptoms you can pretty much rest assured that a CF diagnosis and treatment is the correct course of action.

<b>Sakem </b>does have a valid point about the two genes having to be on different strands of the DNA -- however with all the additional information about your son I cannot imagine this would be the case with him -- either they are on two different strands or like <b>peanut07</b> has said...perhaps they have missed a second gene that would be found if complete deletion and duplicate testing is done.

If it were me, I'd clarify with the geneticist but I wouldn't really expect to come out of this without a CF diagnosis... in fact without it might only do more harm than good if it caused him to not get the best monitoring and treatments available. Again, my advise might be different had you not described some very classic CF symptoms.
 

Alyssa

New member
<b>CFHockeyMom</b> answered this very very nicely. I would think that with two CF genes, positive sweat test and classic CF symptoms you can pretty much rest assured that a CF diagnosis and treatment is the correct course of action.

<b>Sakem </b>does have a valid point about the two genes having to be on different strands of the DNA -- however with all the additional information about your son I cannot imagine this would be the case with him -- either they are on two different strands or like <b>peanut07</b> has said...perhaps they have missed a second gene that would be found if complete deletion and duplicate testing is done.

If it were me, I'd clarify with the geneticist but I wouldn't really expect to come out of this without a CF diagnosis... in fact without it might only do more harm than good if it caused him to not get the best monitoring and treatments available. Again, my advise might be different had you not described some very classic CF symptoms.
 

Alyssa

New member
<b>CFHockeyMom</b> answered this very very nicely. I would think that with two CF genes, positive sweat test and classic CF symptoms you can pretty much rest assured that a CF diagnosis and treatment is the correct course of action.

<b>Sakem </b>does have a valid point about the two genes having to be on different strands of the DNA -- however with all the additional information about your son I cannot imagine this would be the case with him -- either they are on two different strands or like <b>peanut07</b> has said...perhaps they have missed a second gene that would be found if complete deletion and duplicate testing is done.

If it were me, I'd clarify with the geneticist but I wouldn't really expect to come out of this without a CF diagnosis... in fact without it might only do more harm than good if it caused him to not get the best monitoring and treatments available. Again, my advise might be different had you not described some very classic CF symptoms.
 

Alyssa

New member
<b>CFHockeyMom</b> answered this very very nicely. I would think that with two CF genes, positive sweat test and classic CF symptoms you can pretty much rest assured that a CF diagnosis and treatment is the correct course of action.
<br />
<br /><b>Sakem </b>does have a valid point about the two genes having to be on different strands of the DNA -- however with all the additional information about your son I cannot imagine this would be the case with him -- either they are on two different strands or like <b>peanut07</b> has said...perhaps they have missed a second gene that would be found if complete deletion and duplicate testing is done.
<br />
<br />If it were me, I'd clarify with the geneticist but I wouldn't really expect to come out of this without a CF diagnosis... in fact without it might only do more harm than good if it caused him to not get the best monitoring and treatments available. Again, my advise might be different had you not described some very classic CF symptoms.
 

amyr

New member
He has not had the Ambry test. I am so confused. I read that this was in fact a mutation (recently classified as one) why would it be on the test if it wasn't??? His Dr. said it was a cf mutation but what I'm learning is people on this site seem to be more informed. Why would he have a sweat of 49 and lower elastase #'s? (356). He is vitamin deficient (fat soluble ones) and tested negative for celiacs.

This is the last thing I want my kids to have but I need answers so I can get them what they need. I am terrified b/c this is a progressive disease and the right treatment is so important. In my heart I think I know the answer but I still want to be proved wrong. I don't know if they were on the same strand?? I guess I just need to be patient it's just hard when it comes to your children. Thanks!
 

amyr

New member
He has not had the Ambry test. I am so confused. I read that this was in fact a mutation (recently classified as one) why would it be on the test if it wasn't??? His Dr. said it was a cf mutation but what I'm learning is people on this site seem to be more informed. Why would he have a sweat of 49 and lower elastase #'s? (356). He is vitamin deficient (fat soluble ones) and tested negative for celiacs.

This is the last thing I want my kids to have but I need answers so I can get them what they need. I am terrified b/c this is a progressive disease and the right treatment is so important. In my heart I think I know the answer but I still want to be proved wrong. I don't know if they were on the same strand?? I guess I just need to be patient it's just hard when it comes to your children. Thanks!
 

amyr

New member
He has not had the Ambry test. I am so confused. I read that this was in fact a mutation (recently classified as one) why would it be on the test if it wasn't??? His Dr. said it was a cf mutation but what I'm learning is people on this site seem to be more informed. Why would he have a sweat of 49 and lower elastase #'s? (356). He is vitamin deficient (fat soluble ones) and tested negative for celiacs.

This is the last thing I want my kids to have but I need answers so I can get them what they need. I am terrified b/c this is a progressive disease and the right treatment is so important. In my heart I think I know the answer but I still want to be proved wrong. I don't know if they were on the same strand?? I guess I just need to be patient it's just hard when it comes to your children. Thanks!
 

amyr

New member
He has not had the Ambry test. I am so confused. I read that this was in fact a mutation (recently classified as one) why would it be on the test if it wasn't??? His Dr. said it was a cf mutation but what I'm learning is people on this site seem to be more informed. Why would he have a sweat of 49 and lower elastase #'s? (356). He is vitamin deficient (fat soluble ones) and tested negative for celiacs.

This is the last thing I want my kids to have but I need answers so I can get them what they need. I am terrified b/c this is a progressive disease and the right treatment is so important. In my heart I think I know the answer but I still want to be proved wrong. I don't know if they were on the same strand?? I guess I just need to be patient it's just hard when it comes to your children. Thanks!
 

amyr

New member
He has not had the Ambry test. I am so confused. I read that this was in fact a mutation (recently classified as one) why would it be on the test if it wasn't??? His Dr. said it was a cf mutation but what I'm learning is people on this site seem to be more informed. Why would he have a sweat of 49 and lower elastase #'s? (356). He is vitamin deficient (fat soluble ones) and tested negative for celiacs.
<br />
<br />This is the last thing I want my kids to have but I need answers so I can get them what they need. I am terrified b/c this is a progressive disease and the right treatment is so important. In my heart I think I know the answer but I still want to be proved wrong. I don't know if they were on the same strand?? I guess I just need to be patient it's just hard when it comes to your children. Thanks!
 

NoExcuses

New member
So are you doing to get the Ambry Amplified (full panel) test?

He has a lot of CF symptoms.... so I wouldn't be surprised if he has CF.

keep us posted and stay on top of this! your son is counting on you to push the doctors to figure out what's going on.
 

NoExcuses

New member
So are you doing to get the Ambry Amplified (full panel) test?

He has a lot of CF symptoms.... so I wouldn't be surprised if he has CF.

keep us posted and stay on top of this! your son is counting on you to push the doctors to figure out what's going on.
 

NoExcuses

New member
So are you doing to get the Ambry Amplified (full panel) test?

He has a lot of CF symptoms.... so I wouldn't be surprised if he has CF.

keep us posted and stay on top of this! your son is counting on you to push the doctors to figure out what's going on.
 

NoExcuses

New member
So are you doing to get the Ambry Amplified (full panel) test?

He has a lot of CF symptoms.... so I wouldn't be surprised if he has CF.

keep us posted and stay on top of this! your son is counting on you to push the doctors to figure out what's going on.
 

NoExcuses

New member
So are you doing to get the Ambry Amplified (full panel) test?
<br />
<br />He has a lot of CF symptoms.... so I wouldn't be surprised if he has CF.
<br />
<br />keep us posted and stay on top of this! your son is counting on you to push the doctors to figure out what's going on.
 
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