OH MY!

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emilyspeanut

New member
They sent them to Ambry to have them done. He had so many symptoms that led them to test him... constant cough, unexplained lung issues ( he has no allergies), smelly BM's, he is very skinny, etc. They sent him for sewat tests and they were positive except for one borderline.
Why do things have to be so complicated?? I made an appointment to go to NYC to have another evaluation ( my docotr suggested this to me) He said he was not taking the diagnosis away espically because he is doing so well on the meds he has put him on. I just feel like such an ass now though because I did not go get a second opinion all on my own. Can a positive waet test mean something else?? They did tell me that there are new mutations being found all the time.
 
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emilyspeanut

New member
They sent them to Ambry to have them done. He had so many symptoms that led them to test him... constant cough, unexplained lung issues ( he has no allergies), smelly BM's, he is very skinny, etc. They sent him for sewat tests and they were positive except for one borderline.
Why do things have to be so complicated?? I made an appointment to go to NYC to have another evaluation ( my docotr suggested this to me) He said he was not taking the diagnosis away espically because he is doing so well on the meds he has put him on. I just feel like such an ass now though because I did not go get a second opinion all on my own. Can a positive waet test mean something else?? They did tell me that there are new mutations being found all the time.
 
E

emilyspeanut

New member
They sent them to Ambry to have them done. He had so many symptoms that led them to test him... constant cough, unexplained lung issues ( he has no allergies), smelly BM's, he is very skinny, etc. They sent him for sewat tests and they were positive except for one borderline.
Why do things have to be so complicated?? I made an appointment to go to NYC to have another evaluation ( my docotr suggested this to me) He said he was not taking the diagnosis away espically because he is doing so well on the meds he has put him on. I just feel like such an ass now though because I did not go get a second opinion all on my own. Can a positive waet test mean something else?? They did tell me that there are new mutations being found all the time.
 
E

emilyspeanut

New member
They sent them to Ambry to have them done. He had so many symptoms that led them to test him... constant cough, unexplained lung issues ( he has no allergies), smelly BM's, he is very skinny, etc. They sent him for sewat tests and they were positive except for one borderline.
Why do things have to be so complicated?? I made an appointment to go to NYC to have another evaluation ( my docotr suggested this to me) He said he was not taking the diagnosis away espically because he is doing so well on the meds he has put him on. I just feel like such an ass now though because I did not go get a second opinion all on my own. Can a positive waet test mean something else?? They did tell me that there are new mutations being found all the time.
 
E

emilyspeanut

New member
They sent them to Ambry to have them done. He had so many symptoms that led them to test him... constant cough, unexplained lung issues ( he has no allergies), smelly BM's, he is very skinny, etc. They sent him for sewat tests and they were positive except for one borderline.
<br />Why do things have to be so complicated?? I made an appointment to go to NYC to have another evaluation ( my docotr suggested this to me) He said he was not taking the diagnosis away espically because he is doing so well on the meds he has put him on. I just feel like such an ass now though because I did not go get a second opinion all on my own. Can a positive waet test mean something else?? They did tell me that there are new mutations being found all the time.
 
H

hmw

New member
Oh absolutely- if he's only been tested for 100 mutations, that is not excluding a genetic dx by a long shot. Given how many positive sweat tests he's had & his dr being firm on his dx of cf, therefore likely treating him appropriately, there may not be any sense of urgency- but pursuing more comprehensive testing (i.e. Ambry Amplified) would be helpful at some point.

My daughter has only one identified mutation, but with 2 positive sweat tests over 100 and clear symptoms she has a definitive dx. We just assume one of her mutations has yet to be identified.

eta> I didn't see your last post before replying, only Liza's post where I was assuming you had limited genetic testing. Did the Ambry testing include deletions & duplications? And in our case: Emily did have the Ambry Amplified. We just do not know what her 2nd mutation is; it's just a genetic 'unknown' right now, but we treat her because everything else points towards the disease symptomatically and she responds to the treatment.
 
H

hmw

New member
Oh absolutely- if he's only been tested for 100 mutations, that is not excluding a genetic dx by a long shot. Given how many positive sweat tests he's had & his dr being firm on his dx of cf, therefore likely treating him appropriately, there may not be any sense of urgency- but pursuing more comprehensive testing (i.e. Ambry Amplified) would be helpful at some point.

My daughter has only one identified mutation, but with 2 positive sweat tests over 100 and clear symptoms she has a definitive dx. We just assume one of her mutations has yet to be identified.

eta> I didn't see your last post before replying, only Liza's post where I was assuming you had limited genetic testing. Did the Ambry testing include deletions & duplications? And in our case: Emily did have the Ambry Amplified. We just do not know what her 2nd mutation is; it's just a genetic 'unknown' right now, but we treat her because everything else points towards the disease symptomatically and she responds to the treatment.
 
H

hmw

New member
Oh absolutely- if he's only been tested for 100 mutations, that is not excluding a genetic dx by a long shot. Given how many positive sweat tests he's had & his dr being firm on his dx of cf, therefore likely treating him appropriately, there may not be any sense of urgency- but pursuing more comprehensive testing (i.e. Ambry Amplified) would be helpful at some point.

My daughter has only one identified mutation, but with 2 positive sweat tests over 100 and clear symptoms she has a definitive dx. We just assume one of her mutations has yet to be identified.

eta> I didn't see your last post before replying, only Liza's post where I was assuming you had limited genetic testing. Did the Ambry testing include deletions & duplications? And in our case: Emily did have the Ambry Amplified. We just do not know what her 2nd mutation is; it's just a genetic 'unknown' right now, but we treat her because everything else points towards the disease symptomatically and she responds to the treatment.
 
H

hmw

New member
Oh absolutely- if he's only been tested for 100 mutations, that is not excluding a genetic dx by a long shot. Given how many positive sweat tests he's had & his dr being firm on his dx of cf, therefore likely treating him appropriately, there may not be any sense of urgency- but pursuing more comprehensive testing (i.e. Ambry Amplified) would be helpful at some point.

My daughter has only one identified mutation, but with 2 positive sweat tests over 100 and clear symptoms she has a definitive dx. We just assume one of her mutations has yet to be identified.

eta> I didn't see your last post before replying, only Liza's post where I was assuming you had limited genetic testing. Did the Ambry testing include deletions & duplications? And in our case: Emily did have the Ambry Amplified. We just do not know what her 2nd mutation is; it's just a genetic 'unknown' right now, but we treat her because everything else points towards the disease symptomatically and she responds to the treatment.
 
H

hmw

New member
Oh absolutely- if he's only been tested for 100 mutations, that is not excluding a genetic dx by a long shot. Given how many positive sweat tests he's had & his dr being firm on his dx of cf, therefore likely treating him appropriately, there may not be any sense of urgency- but pursuing more comprehensive testing (i.e. Ambry Amplified) would be helpful at some point.
<br />
<br />My daughter has only one identified mutation, but with 2 positive sweat tests over 100 and clear symptoms she has a definitive dx. We just assume one of her mutations has yet to be identified.
<br />
<br />eta> I didn't see your last post before replying, only Liza's post where I was assuming you had limited genetic testing. Did the Ambry testing include deletions & duplications? And in our case: Emily did have the Ambry Amplified. We just do not know what her 2nd mutation is; it's just a genetic 'unknown' right now, but we treat her because everything else points towards the disease symptomatically and she responds to the treatment.
 
C

caraweger

New member
My daughter's first genetic test showed NO MUTATIONS as well. But after sending it off for the full panel, gene sequencing, they found one rare mutation, and one that they have referred to has a "new" mutation. I would push for the gene sequencing if you are wanting to confirm the mutations.
 
C

caraweger

New member
My daughter's first genetic test showed NO MUTATIONS as well. But after sending it off for the full panel, gene sequencing, they found one rare mutation, and one that they have referred to has a "new" mutation. I would push for the gene sequencing if you are wanting to confirm the mutations.
 
C

caraweger

New member
My daughter's first genetic test showed NO MUTATIONS as well. But after sending it off for the full panel, gene sequencing, they found one rare mutation, and one that they have referred to has a "new" mutation. I would push for the gene sequencing if you are wanting to confirm the mutations.
 
C

caraweger

New member
My daughter's first genetic test showed NO MUTATIONS as well. But after sending it off for the full panel, gene sequencing, they found one rare mutation, and one that they have referred to has a "new" mutation. I would push for the gene sequencing if you are wanting to confirm the mutations.
 
C

caraweger

New member
My daughter's first genetic test showed NO MUTATIONS as well. But after sending it off for the full panel, gene sequencing, they found one rare mutation, and one that they have referred to has a "new" mutation. I would push for the gene sequencing if you are wanting to confirm the mutations.
 
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