Carriers symptoms..?

[wuffles]

I'm not a doctor, but to me it sounds like many of the people in this thread should get some extra genetic testing done through Ambry or Quest.

Often when doctors say they have tested for CF, they have only tested for a small amount of mutations - sometimes only 12, or 34, or 89 when there are actually over 1000.

A lot of the rarer genes lend themselves to milder or atypical symptoms so it is entirely possible that many older people have CF and do not know. Please get full genetic testing through Ambry if you can!!!

 

[wuffles]

I'm not a doctor, but to me it sounds like many of the people in this thread should get some extra genetic testing done through Ambry or Quest.

Often when doctors say they have tested for CF, they have only tested for a small amount of mutations - sometimes only 12, or 34, or 89 when there are actually over 1000.

A lot of the rarer genes lend themselves to milder or atypical symptoms so it is entirely possible that many older people have CF and do not know. Please get full genetic testing through Ambry if you can!!!

 

[wuffles]

I'm not a doctor, but to me it sounds like many of the people in this thread should get some extra genetic testing done through Ambry or Quest.

Often when doctors say they have tested for CF, they have only tested for a small amount of mutations - sometimes only 12, or 34, or 89 when there are actually over 1000.

A lot of the rarer genes lend themselves to milder or atypical symptoms so it is entirely possible that many older people have CF and do not know. Please get full genetic testing through Ambry if you can!!!

 

[wuffles]

I'm not a doctor, but to me it sounds like many of the people in this thread should get some extra genetic testing done through Ambry or Quest.

Often when doctors say they have tested for CF, they have only tested for a small amount of mutations - sometimes only 12, or 34, or 89 when there are actually over 1000.

A lot of the rarer genes lend themselves to milder or atypical symptoms so it is entirely possible that many older people have CF and do not know. Please get full genetic testing through Ambry if you can!!!

 

[wuffles]

I'm not a doctor, but to me it sounds like many of the people in this thread should get some extra genetic testing done through Ambry or Quest.

Often when doctors say they have tested for CF, they have only tested for a small amount of mutations - sometimes only 12, or 34, or 89 when there are actually over 1000.

A lot of the rarer genes lend themselves to milder or atypical symptoms so it is entirely possible that many older people have CF and do not know. Please get full genetic testing through Ambry if you can!!!

 

[AnnaH]

I agree with wuffles. That sounds like it could be mild/atypical CF, and i'd push for a full gene test. Especially for the kid with a sweat test in the 50s. That's quite high, and i don't think carriers have borderline sweat tests.

My aunt was diagnosed at 64, after I was born. She's got one df508, and one really rare mutation.

 

[AnnaH]

I agree with wuffles. That sounds like it could be mild/atypical CF, and i'd push for a full gene test. Especially for the kid with a sweat test in the 50s. That's quite high, and i don't think carriers have borderline sweat tests.

My aunt was diagnosed at 64, after I was born. She's got one df508, and one really rare mutation.

 

[AnnaH]

I agree with wuffles. That sounds like it could be mild/atypical CF, and i'd push for a full gene test. Especially for the kid with a sweat test in the 50s. That's quite high, and i don't think carriers have borderline sweat tests.

My aunt was diagnosed at 64, after I was born. She's got one df508, and one really rare mutation.

 

[AnnaH]

I agree with wuffles. That sounds like it could be mild/atypical CF, and i'd push for a full gene test. Especially for the kid with a sweat test in the 50s. That's quite high, and i don't think carriers have borderline sweat tests.

My aunt was diagnosed at 64, after I was born. She's got one df508, and one really rare mutation.

 

[AnnaH]

I agree with wuffles. That sounds like it could be mild/atypical CF, and i'd push for a full gene test. Especially for the kid with a sweat test in the 50s. That's quite high, and i don't think carriers have borderline sweat tests.

My aunt was diagnosed at 64, after I was born. She's got one df508, and one really rare mutation.

 

[mom2lillian]

Interesting.

I know in my family we have alot of (albeit undiagnosed due to the way my family is) chronic sinusitis, lots allergies, and diabetes is rampant - type 1 and 2 on both sides of my family tree (not undiagnosed there).

I just wanted to mention to never just let the 'we've been tested' thing get in the way of being retested. I would live life assumign carrier symtpoms since it's obvious it can happen BUT if things continue to be problematic or worsen then continue to get re-tested. If it was not for me taking matters in to my own hands and truly getting adamant and unruly with docs I would still be an 'asthmatic bronchitis allergy sufferer'.

Case in point: I was tested at 14-no dice, tested at 21-one mutation, tested at 23-two mutations <img src="i/expressions/face-icon-small-smile.gif" border="0"> My CF clinic director had a son die in the 70's, the CF docs sent away for a genetic test on her a afew times due to her chronic cough and occasional bouts of upper respiratory infections, when she would get infections they would culture her, she showed PA a few years ago so they sent away genetics again and bingo finally showed her 2nd gene--she was diagnosed at I think 59 years old. NEVER had she not worked for CF clinic woudl she have been diagnosed.

 

[mom2lillian]

Interesting.

I know in my family we have alot of (albeit undiagnosed due to the way my family is) chronic sinusitis, lots allergies, and diabetes is rampant - type 1 and 2 on both sides of my family tree (not undiagnosed there).

I just wanted to mention to never just let the 'we've been tested' thing get in the way of being retested. I would live life assumign carrier symtpoms since it's obvious it can happen BUT if things continue to be problematic or worsen then continue to get re-tested. If it was not for me taking matters in to my own hands and truly getting adamant and unruly with docs I would still be an 'asthmatic bronchitis allergy sufferer'.

Case in point: I was tested at 14-no dice, tested at 21-one mutation, tested at 23-two mutations <img src="i/expressions/face-icon-small-smile.gif" border="0"> My CF clinic director had a son die in the 70's, the CF docs sent away for a genetic test on her a afew times due to her chronic cough and occasional bouts of upper respiratory infections, when she would get infections they would culture her, she showed PA a few years ago so they sent away genetics again and bingo finally showed her 2nd gene--she was diagnosed at I think 59 years old. NEVER had she not worked for CF clinic woudl she have been diagnosed.

 

[mom2lillian]

Interesting.

I know in my family we have alot of (albeit undiagnosed due to the way my family is) chronic sinusitis, lots allergies, and diabetes is rampant - type 1 and 2 on both sides of my family tree (not undiagnosed there).

I just wanted to mention to never just let the 'we've been tested' thing get in the way of being retested. I would live life assumign carrier symtpoms since it's obvious it can happen BUT if things continue to be problematic or worsen then continue to get re-tested. If it was not for me taking matters in to my own hands and truly getting adamant and unruly with docs I would still be an 'asthmatic bronchitis allergy sufferer'.

Case in point: I was tested at 14-no dice, tested at 21-one mutation, tested at 23-two mutations <img src="i/expressions/face-icon-small-smile.gif" border="0"> My CF clinic director had a son die in the 70's, the CF docs sent away for a genetic test on her a afew times due to her chronic cough and occasional bouts of upper respiratory infections, when she would get infections they would culture her, she showed PA a few years ago so they sent away genetics again and bingo finally showed her 2nd gene--she was diagnosed at I think 59 years old. NEVER had she not worked for CF clinic woudl she have been diagnosed.

 

[mom2lillian]

Interesting.

I know in my family we have alot of (albeit undiagnosed due to the way my family is) chronic sinusitis, lots allergies, and diabetes is rampant - type 1 and 2 on both sides of my family tree (not undiagnosed there).

I just wanted to mention to never just let the 'we've been tested' thing get in the way of being retested. I would live life assumign carrier symtpoms since it's obvious it can happen BUT if things continue to be problematic or worsen then continue to get re-tested. If it was not for me taking matters in to my own hands and truly getting adamant and unruly with docs I would still be an 'asthmatic bronchitis allergy sufferer'.

Case in point: I was tested at 14-no dice, tested at 21-one mutation, tested at 23-two mutations <img src="i/expressions/face-icon-small-smile.gif" border="0"> My CF clinic director had a son die in the 70's, the CF docs sent away for a genetic test on her a afew times due to her chronic cough and occasional bouts of upper respiratory infections, when she would get infections they would culture her, she showed PA a few years ago so they sent away genetics again and bingo finally showed her 2nd gene--she was diagnosed at I think 59 years old. NEVER had she not worked for CF clinic woudl she have been diagnosed.

 

[mom2lillian]

Interesting.

I know in my family we have alot of (albeit undiagnosed due to the way my family is) chronic sinusitis, lots allergies, and diabetes is rampant - type 1 and 2 on both sides of my family tree (not undiagnosed there).

I just wanted to mention to never just let the 'we've been tested' thing get in the way of being retested. I would live life assumign carrier symtpoms since it's obvious it can happen BUT if things continue to be problematic or worsen then continue to get re-tested. If it was not for me taking matters in to my own hands and truly getting adamant and unruly with docs I would still be an 'asthmatic bronchitis allergy sufferer'.

Case in point: I was tested at 14-no dice, tested at 21-one mutation, tested at 23-two mutations <img src="i/expressions/face-icon-small-smile.gif" border="0"> My CF clinic director had a son die in the 70's, the CF docs sent away for a genetic test on her a afew times due to her chronic cough and occasional bouts of upper respiratory infections, when she would get infections they would culture her, she showed PA a few years ago so they sent away genetics again and bingo finally showed her 2nd gene--she was diagnosed at I think 59 years old. NEVER had she not worked for CF clinic woudl she have been diagnosed.

 

[spacemom]

OMG there's yet so much to know... maybe just there's much more CF around than anyone could imagine... maybe many "carriers" are actually affected by CF... maybe they have what is called atypical or non-classical CF, but the second gene has a new mutation... or just maybe there are more genes involved in CF besides the (in)famous CFTR... OMG will we ever know the truth?...

Or, maybe carriers having symptoms is just a coincidence... all my life I've been prone to digestive system bloating and gas, after eating certain foods. Now I know I'm a carrier can I honestly say I'm a carrier with symptoms??
(My son is the Cfer and only has lung symptoms)
Õh pleeeeeeeease more research into this baffling dis-ease...........................

 

[spacemom]

OMG there's yet so much to know... maybe just there's much more CF around than anyone could imagine... maybe many "carriers" are actually affected by CF... maybe they have what is called atypical or non-classical CF, but the second gene has a new mutation... or just maybe there are more genes involved in CF besides the (in)famous CFTR... OMG will we ever know the truth?...

Or, maybe carriers having symptoms is just a coincidence... all my life I've been prone to digestive system bloating and gas, after eating certain foods. Now I know I'm a carrier can I honestly say I'm a carrier with symptoms??
(My son is the Cfer and only has lung symptoms)
Õh pleeeeeeeease more research into this baffling dis-ease...........................

 

[spacemom]

OMG there's yet so much to know... maybe just there's much more CF around than anyone could imagine... maybe many "carriers" are actually affected by CF... maybe they have what is called atypical or non-classical CF, but the second gene has a new mutation... or just maybe there are more genes involved in CF besides the (in)famous CFTR... OMG will we ever know the truth?...

Or, maybe carriers having symptoms is just a coincidence... all my life I've been prone to digestive system bloating and gas, after eating certain foods. Now I know I'm a carrier can I honestly say I'm a carrier with symptoms??
(My son is the Cfer and only has lung symptoms)
Õh pleeeeeeeease more research into this baffling dis-ease...........................

 

[spacemom]

OMG there's yet so much to know... maybe just there's much more CF around than anyone could imagine... maybe many "carriers" are actually affected by CF... maybe they have what is called atypical or non-classical CF, but the second gene has a new mutation... or just maybe there are more genes involved in CF besides the (in)famous CFTR... OMG will we ever know the truth?...

Or, maybe carriers having symptoms is just a coincidence... all my life I've been prone to digestive system bloating and gas, after eating certain foods. Now I know I'm a carrier can I honestly say I'm a carrier with symptoms??
(My son is the Cfer and only has lung symptoms)
Õh pleeeeeeeease more research into this baffling dis-ease...........................

 

[spacemom]

OMG there's yet so much to know... maybe just there's much more CF around than anyone could imagine... maybe many "carriers" are actually affected by CF... maybe they have what is called atypical or non-classical CF, but the second gene has a new mutation... or just maybe there are more genes involved in CF besides the (in)famous CFTR... OMG will we ever know the truth?...

Or, maybe carriers having symptoms is just a coincidence... all my life I've been prone to digestive system bloating and gas, after eating certain foods. Now I know I'm a carrier can I honestly say I'm a carrier with symptoms??
(My son is the Cfer and only has lung symptoms)
Õh pleeeeeeeease more research into this baffling dis-ease...........................