pancreatic sufficiency in 1 kid not other

[2cfers]

Anyone have 2 kids with CF and have one pancreatic insufficient and one pancreatic sufficient.

our son was diagnosed from the newborn screen and is also pancreatic insufficient. He is DF508 and we do not know what the other mutation is with a very positive sweat test.

The CF clinic recommended that we have our other 2 daughter sweat tested and our 9 year old daughter was positive as well her numbers were in the 80's. She is under weight but was pancreatic sufficient. She is rarely sick.

We have not had and genetic testing done on her. Our clinic has discouraged us to do so stating "save your money" With a sibling with a CF diagnosis and a positive sweat test that is enough to diagnos your daughter.

We of course feel there was some sort of a mistake. She did have 2 sweat tests. Our oldest daughter tested negative with results in the 20's.

Any thoughts from you highly educated people.

Thanks

Christy

 

[2cfers]

Anyone have 2 kids with CF and have one pancreatic insufficient and one pancreatic sufficient.

our son was diagnosed from the newborn screen and is also pancreatic insufficient. He is DF508 and we do not know what the other mutation is with a very positive sweat test.

The CF clinic recommended that we have our other 2 daughter sweat tested and our 9 year old daughter was positive as well her numbers were in the 80's. She is under weight but was pancreatic sufficient. She is rarely sick.

We have not had and genetic testing done on her. Our clinic has discouraged us to do so stating "save your money" With a sibling with a CF diagnosis and a positive sweat test that is enough to diagnos your daughter.

We of course feel there was some sort of a mistake. She did have 2 sweat tests. Our oldest daughter tested negative with results in the 20's.

Any thoughts from you highly educated people.

Thanks

Christy

 

[2cfers]

Anyone have 2 kids with CF and have one pancreatic insufficient and one pancreatic sufficient.

our son was diagnosed from the newborn screen and is also pancreatic insufficient. He is DF508 and we do not know what the other mutation is with a very positive sweat test.

The CF clinic recommended that we have our other 2 daughter sweat tested and our 9 year old daughter was positive as well her numbers were in the 80's. She is under weight but was pancreatic sufficient. She is rarely sick.

We have not had and genetic testing done on her. Our clinic has discouraged us to do so stating "save your money" With a sibling with a CF diagnosis and a positive sweat test that is enough to diagnos your daughter.

We of course feel there was some sort of a mistake. She did have 2 sweat tests. Our oldest daughter tested negative with results in the 20's.

Any thoughts from you highly educated people.

Thanks

Christy

 

[2cfers]

Anyone have 2 kids with CF and have one pancreatic insufficient and one pancreatic sufficient.

our son was diagnosed from the newborn screen and is also pancreatic insufficient. He is DF508 and we do not know what the other mutation is with a very positive sweat test.

The CF clinic recommended that we have our other 2 daughter sweat tested and our 9 year old daughter was positive as well her numbers were in the 80's. She is under weight but was pancreatic sufficient. She is rarely sick.

We have not had and genetic testing done on her. Our clinic has discouraged us to do so stating "save your money" With a sibling with a CF diagnosis and a positive sweat test that is enough to diagnos your daughter.

We of course feel there was some sort of a mistake. She did have 2 sweat tests. Our oldest daughter tested negative with results in the 20's.

Any thoughts from you highly educated people.

Thanks

Christy

 

[2cfers]

Anyone have 2 kids with CF and have one pancreatic insufficient and one pancreatic sufficient.

our son was diagnosed from the newborn screen and is also pancreatic insufficient. He is DF508 and we do not know what the other mutation is with a very positive sweat test.

The CF clinic recommended that we have our other 2 daughter sweat tested and our 9 year old daughter was positive as well her numbers were in the 80's. She is under weight but was pancreatic sufficient. She is rarely sick.

We have not had and genetic testing done on her. Our clinic has discouraged us to do so stating "save your money" With a sibling with a CF diagnosis and a positive sweat test that is enough to diagnos your daughter.

We of course feel there was some sort of a mistake. She did have 2 sweat tests. Our oldest daughter tested negative with results in the 20's.

Any thoughts from you highly educated people.

Thanks

Christy

 

[semperfiohana]

i don't understand why the doctor would tell you not to get the genetic testing done. i was diagnoised when i was 2 i think with a sweat test. well i think i was 18 and for some reason my cf doctor (it was my children's clinic before i moved to the adult clinic) realized that she didn't have a copy of my mutations. so she pulled my blood. i don't know why but i guess they liked having a copy of what my mutations and my adult doctors up here where i moved to wanted a copy of my mutations too. anyways if you have any questions feel free to ask me!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[semperfiohana]

i don't understand why the doctor would tell you not to get the genetic testing done. i was diagnoised when i was 2 i think with a sweat test. well i think i was 18 and for some reason my cf doctor (it was my children's clinic before i moved to the adult clinic) realized that she didn't have a copy of my mutations. so she pulled my blood. i don't know why but i guess they liked having a copy of what my mutations and my adult doctors up here where i moved to wanted a copy of my mutations too. anyways if you have any questions feel free to ask me!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[semperfiohana]

i don't understand why the doctor would tell you not to get the genetic testing done. i was diagnoised when i was 2 i think with a sweat test. well i think i was 18 and for some reason my cf doctor (it was my children's clinic before i moved to the adult clinic) realized that she didn't have a copy of my mutations. so she pulled my blood. i don't know why but i guess they liked having a copy of what my mutations and my adult doctors up here where i moved to wanted a copy of my mutations too. anyways if you have any questions feel free to ask me!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[semperfiohana]

i don't understand why the doctor would tell you not to get the genetic testing done. i was diagnoised when i was 2 i think with a sweat test. well i think i was 18 and for some reason my cf doctor (it was my children's clinic before i moved to the adult clinic) realized that she didn't have a copy of my mutations. so she pulled my blood. i don't know why but i guess they liked having a copy of what my mutations and my adult doctors up here where i moved to wanted a copy of my mutations too. anyways if you have any questions feel free to ask me!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[semperfiohana]

i don't understand why the doctor would tell you not to get the genetic testing done. i was diagnoised when i was 2 i think with a sweat test. well i think i was 18 and for some reason my cf doctor (it was my children's clinic before i moved to the adult clinic) realized that she didn't have a copy of my mutations. so she pulled my blood. i don't know why but i guess they liked having a copy of what my mutations and my adult doctors up here where i moved to wanted a copy of my mutations too. anyways if you have any questions feel free to ask me!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[NoExcuses]

I think genetic testing is imperative. Ambry Full Panel (testing for 1300 or more genes) is necessary.

But it's perfectly possible to have children with the same two CF genes but to have two different clinical outcomes.

 

[NoExcuses]

I think genetic testing is imperative. Ambry Full Panel (testing for 1300 or more genes) is necessary.

But it's perfectly possible to have children with the same two CF genes but to have two different clinical outcomes.

 

[NoExcuses]

I think genetic testing is imperative. Ambry Full Panel (testing for 1300 or more genes) is necessary.

But it's perfectly possible to have children with the same two CF genes but to have two different clinical outcomes.

 

[NoExcuses]

I think genetic testing is imperative. Ambry Full Panel (testing for 1300 or more genes) is necessary.

But it's perfectly possible to have children with the same two CF genes but to have two different clinical outcomes.

 

[NoExcuses]

I think genetic testing is imperative. Ambry Full Panel (testing for 1300 or more genes) is necessary.

But it's perfectly possible to have children with the same two CF genes but to have two different clinical outcomes.

 

[wuffles]

You just have to take one look at the diverse range of symptoms for people on this website to realise that the same mutation in two people can manifest in completely different ways.

There are so many reasons why people with the same mutations have different symptoms. One of those is modifier genes -- not everyone has the exact same genes, even siblings -- which may dictate whether someone is, for example, pancreatic sufficient or not.

I also hate to say it but there are very few false positive sweat tests. There are quite a few false negatives, so I definitely think it would be worthwhile getting the full Ambry panel on both your daughters. If either or both of them do have CF, they need to start preventative treatment! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[wuffles]

You just have to take one look at the diverse range of symptoms for people on this website to realise that the same mutation in two people can manifest in completely different ways.

There are so many reasons why people with the same mutations have different symptoms. One of those is modifier genes -- not everyone has the exact same genes, even siblings -- which may dictate whether someone is, for example, pancreatic sufficient or not.

I also hate to say it but there are very few false positive sweat tests. There are quite a few false negatives, so I definitely think it would be worthwhile getting the full Ambry panel on both your daughters. If either or both of them do have CF, they need to start preventative treatment! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[wuffles]

You just have to take one look at the diverse range of symptoms for people on this website to realise that the same mutation in two people can manifest in completely different ways.

There are so many reasons why people with the same mutations have different symptoms. One of those is modifier genes -- not everyone has the exact same genes, even siblings -- which may dictate whether someone is, for example, pancreatic sufficient or not.

I also hate to say it but there are very few false positive sweat tests. There are quite a few false negatives, so I definitely think it would be worthwhile getting the full Ambry panel on both your daughters. If either or both of them do have CF, they need to start preventative treatment! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[wuffles]

You just have to take one look at the diverse range of symptoms for people on this website to realise that the same mutation in two people can manifest in completely different ways.

There are so many reasons why people with the same mutations have different symptoms. One of those is modifier genes -- not everyone has the exact same genes, even siblings -- which may dictate whether someone is, for example, pancreatic sufficient or not.

I also hate to say it but there are very few false positive sweat tests. There are quite a few false negatives, so I definitely think it would be worthwhile getting the full Ambry panel on both your daughters. If either or both of them do have CF, they need to start preventative treatment! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[wuffles]

You just have to take one look at the diverse range of symptoms for people on this website to realise that the same mutation in two people can manifest in completely different ways.

There are so many reasons why people with the same mutations have different symptoms. One of those is modifier genes -- not everyone has the exact same genes, even siblings -- which may dictate whether someone is, for example, pancreatic sufficient or not.

I also hate to say it but there are very few false positive sweat tests. There are quite a few false negatives, so I definitely think it would be worthwhile getting the full Ambry panel on both your daughters. If either or both of them do have CF, they need to start preventative treatment! <img src="i/expressions/face-icon-small-smile.gif" border="0">