Hi My name is Jane, My son is a deltaf508 and m470v 7t9t variant. the docs at chop in philly cant call it yet not enough info on the m470v. they say maybe as he gets older they cound call it. I would like to know now to do preventative treatment on him. he is now 6. his cousin has cf. double df508. wish I new more thanks Jane<img src="i/expressions/face-icon-small-confused.gif" border="0">
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Cystic Fibrosis genes
- Thread starter cysticfibrosisgirl
- Start date
I heard the most interesting story yesterday.
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
I heard the most interesting story yesterday.
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
I heard the most interesting story yesterday.
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
I heard the most interesting story yesterday.
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
I heard the most interesting story yesterday.
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
I heard the most interesting story yesterday.
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Twins, on this board, who are fraternal. Obviously with the same parents they have the exact same 2 mutations.
One is pancreatic sufficient, one isn't. One has poor lung function, the other a bit better.
If that doesn't prove that genes can't predict clinical outcome, then I don't know what does......
Sakasuka,
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
Sakasuka,
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
Sakasuka,
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
Sakasuka,
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
Sakasuka,
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
Sakasuka,
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
I absolutely agree with you about the fact that there are a huge number of factors that effect clinical outcome. However, i think that for diagnostic purposes the "atypical" classification is very useful. Doctors are faced with the perhaps daunting task of diagnosing someone who presents with certain symptoms. For the health of their patients, they need to be able to differentiate clinically between different disorders. CF symptoms can be extremely similar to multiple other disorders. The atypical CF classification helps doctors differentiate these symptoms to either make a CF diagnosis or not. There are a few similarities among people who are classified as atypical CF: they tend to have lower sweat chloride levels, may present at an older age, may have some mutations considered "mild" and tend to have symptoms in just 1 organ. Doctors have a difficult job and they are not always that great at it. They depend on diagnostic algorithms to figure out what is going on. The atypical cf classification is really about that and NOT about predicting absolute clinical outcome. It is so overwhelmed doctors or doctors lacking real knowledge/experience of/with CF will have an algorithm to follow when making a diagnosis. It is about procedure.
When it comes to who is doing better at better down the line, you are right, that will depend on environmental factors, age of diagnosis, patient complience, modifier genes, nutrition and excersize.... a TON of things are involved.
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote></div>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote></div>
It not only controls for environment but also controls for genetic mutations!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote>
It not only controls for environment but also controls for genetic mutations!
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote>
It not only controls for environment but also controls for genetic mutations!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>okok</b></i>
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote>
It not only controls for environment but also controls for genetic mutations!
ps USUALLY all siblings (unless having different moms or dads) will have the same mutations (ie but not same modifier genes necessarily). </end quote>
Of course, this is why I brought up the example
<div class="FTQUOTE"><begin quote>The fraternal twin example mainly controls for environment....(since they are not identical) and even then there can be difference in patient complience at some point.</end quote>
It not only controls for environment but also controls for genetic mutations!