False Positive Asymptomatic

[AnD]

I am 36 years old, and if I remember right (I was supposed to double check at my last clinic visit, and forgot<img src="i/expressions/face-icon-small-blush.gif" border="0">), I have the double DF508.

I had meconimum illius at birth, was on low dose of enzymes (they also had to decrease mine as an infant), and had absolutely no pulmonary symptoms until I had one bout of bronchitis at 13. I currently still only take an enzyme with a really fatty meal.

At 16, I had my gallbladder out (stones), and caught pneumonia in the hospital, and have fought it ever since. So yes, using me as an example, it is possible to be almost asymptomatic, and still have the most common genes. I hope she continues to do so well- please continue to do all the preventative therapies that your doctor has prescribed, and perhaps (and prayerfully) she will be one of the "mild" cases long into adulthood <img src="i/expressions/face-icon-small-wink.gif" border="0"> . It's so easy to take it for granted...

 

[AnD]

I am 36 years old, and if I remember right (I was supposed to double check at my last clinic visit, and forgot<img src="i/expressions/face-icon-small-blush.gif" border="0">), I have the double DF508.

I had meconimum illius at birth, was on low dose of enzymes (they also had to decrease mine as an infant), and had absolutely no pulmonary symptoms until I had one bout of bronchitis at 13. I currently still only take an enzyme with a really fatty meal.

At 16, I had my gallbladder out (stones), and caught pneumonia in the hospital, and have fought it ever since. So yes, using me as an example, it is possible to be almost asymptomatic, and still have the most common genes. I hope she continues to do so well- please continue to do all the preventative therapies that your doctor has prescribed, and perhaps (and prayerfully) she will be one of the "mild" cases long into adulthood <img src="i/expressions/face-icon-small-wink.gif" border="0"> . It's so easy to take it for granted...

 

[AnD]

I am 36 years old, and if I remember right (I was supposed to double check at my last clinic visit, and forgot<img src="i/expressions/face-icon-small-blush.gif" border="0">), I have the double DF508.

I had meconimum illius at birth, was on low dose of enzymes (they also had to decrease mine as an infant), and had absolutely no pulmonary symptoms until I had one bout of bronchitis at 13. I currently still only take an enzyme with a really fatty meal.

At 16, I had my gallbladder out (stones), and caught pneumonia in the hospital, and have fought it ever since. So yes, using me as an example, it is possible to be almost asymptomatic, and still have the most common genes. I hope she continues to do so well- please continue to do all the preventative therapies that your doctor has prescribed, and perhaps (and prayerfully) she will be one of the "mild" cases long into adulthood <img src="i/expressions/face-icon-small-wink.gif" border="0"> . It's so easy to take it for granted...

 

[AnD]

I am 36 years old, and if I remember right (I was supposed to double check at my last clinic visit, and forgot<img src="i/expressions/face-icon-small-blush.gif" border="0">), I have the double DF508.

I had meconimum illius at birth, was on low dose of enzymes (they also had to decrease mine as an infant), and had absolutely no pulmonary symptoms until I had one bout of bronchitis at 13. I currently still only take an enzyme with a really fatty meal.

At 16, I had my gallbladder out (stones), and caught pneumonia in the hospital, and have fought it ever since. So yes, using me as an example, it is possible to be almost asymptomatic, and still have the most common genes. I hope she continues to do so well- please continue to do all the preventative therapies that your doctor has prescribed, and perhaps (and prayerfully) she will be one of the "mild" cases long into adulthood <img src="i/expressions/face-icon-small-wink.gif" border="0"> . It's so easy to take it for granted...

 

[NoExcuses]

Consider yourself fortunate.

But remember that this is a progressive disease - which means that things get worse over time.

Many people have a very mind/little symptoms with CF when they are younger. But as they get older, because the disease is progressive and does <b> not </b> stay the same over time, things get worse.

Your best course of action is what everyone is doing with young CF patients - preventative treatment. Doing medications and treatment <u> before </u> symptoms arise to prolong life. Once you are treating symptoms, the cycle has begun.

And don't let anyone confuse you about "typical" and "atypical" CF. No two cases of CF are the same. You need to deal with what is going on today, but prepare for the future with treatments and educating yourself.

Good luck.

 

[NoExcuses]

Consider yourself fortunate.

But remember that this is a progressive disease - which means that things get worse over time.

Many people have a very mind/little symptoms with CF when they are younger. But as they get older, because the disease is progressive and does <b> not </b> stay the same over time, things get worse.

Your best course of action is what everyone is doing with young CF patients - preventative treatment. Doing medications and treatment <u> before </u> symptoms arise to prolong life. Once you are treating symptoms, the cycle has begun.

And don't let anyone confuse you about "typical" and "atypical" CF. No two cases of CF are the same. You need to deal with what is going on today, but prepare for the future with treatments and educating yourself.

Good luck.

 

[NoExcuses]

Consider yourself fortunate.

But remember that this is a progressive disease - which means that things get worse over time.

Many people have a very mind/little symptoms with CF when they are younger. But as they get older, because the disease is progressive and does <b> not </b> stay the same over time, things get worse.

Your best course of action is what everyone is doing with young CF patients - preventative treatment. Doing medications and treatment <u> before </u> symptoms arise to prolong life. Once you are treating symptoms, the cycle has begun.

And don't let anyone confuse you about "typical" and "atypical" CF. No two cases of CF are the same. You need to deal with what is going on today, but prepare for the future with treatments and educating yourself.

Good luck.

 

[NoExcuses]

Consider yourself fortunate.

But remember that this is a progressive disease - which means that things get worse over time.

Many people have a very mind/little symptoms with CF when they are younger. But as they get older, because the disease is progressive and does <b> not </b> stay the same over time, things get worse.

Your best course of action is what everyone is doing with young CF patients - preventative treatment. Doing medications and treatment <u> before </u> symptoms arise to prolong life. Once you are treating symptoms, the cycle has begun.

And don't let anyone confuse you about "typical" and "atypical" CF. No two cases of CF are the same. You need to deal with what is going on today, but prepare for the future with treatments and educating yourself.

Good luck.

 

[NoExcuses]

Consider yourself fortunate.

But remember that this is a progressive disease - which means that things get worse over time.

Many people have a very mind/little symptoms with CF when they are younger. But as they get older, because the disease is progressive and does <b> not </b> stay the same over time, things get worse.

Your best course of action is what everyone is doing with young CF patients - preventative treatment. Doing medications and treatment <u> before </u> symptoms arise to prolong life. Once you are treating symptoms, the cycle has begun.

And don't let anyone confuse you about "typical" and "atypical" CF. No two cases of CF are the same. You need to deal with what is going on today, but prepare for the future with treatments and educating yourself.

Good luck.

 

[NoExcuses]

Consider yourself fortunate.

But remember that this is a progressive disease - which means that things get worse over time.

Many people have a very mind/little symptoms with CF when they are younger. But as they get older, because the disease is progressive and does <b> not </b> stay the same over time, things get worse.

Your best course of action is what everyone is doing with young CF patients - preventative treatment. Doing medications and treatment <u> before </u> symptoms arise to prolong life. Once you are treating symptoms, the cycle has begun.

And don't let anyone confuse you about "typical" and "atypical" CF. No two cases of CF are the same. You need to deal with what is going on today, but prepare for the future with treatments and educating yourself.

Good luck.

 

[Ratatosk]

I can understand to a certain extent where you're coming from in terms of questioning the diagnosis. I had similar feelings when DS was a baby because we started enzymes right away we didn't ever deal with foul smelling stools. Didn't have lung issues, never brought anything up when we did cpt and the reason I felt as if maybe he didn't have CF was because he had a normal sweat test, so in the back of my mind I was kinda hoping the diagnosis was all just a big mistake and someday someone would call and say whoops.

But I'd never dream of stopping any meds or treatments just to see. And once he cultured pseudo, just kinda hit home that he did in fact have CF.

 

[Ratatosk]

I can understand to a certain extent where you're coming from in terms of questioning the diagnosis. I had similar feelings when DS was a baby because we started enzymes right away we didn't ever deal with foul smelling stools. Didn't have lung issues, never brought anything up when we did cpt and the reason I felt as if maybe he didn't have CF was because he had a normal sweat test, so in the back of my mind I was kinda hoping the diagnosis was all just a big mistake and someday someone would call and say whoops.

But I'd never dream of stopping any meds or treatments just to see. And once he cultured pseudo, just kinda hit home that he did in fact have CF.

 

[Ratatosk]

I can understand to a certain extent where you're coming from in terms of questioning the diagnosis. I had similar feelings when DS was a baby because we started enzymes right away we didn't ever deal with foul smelling stools. Didn't have lung issues, never brought anything up when we did cpt and the reason I felt as if maybe he didn't have CF was because he had a normal sweat test, so in the back of my mind I was kinda hoping the diagnosis was all just a big mistake and someday someone would call and say whoops.

But I'd never dream of stopping any meds or treatments just to see. And once he cultured pseudo, just kinda hit home that he did in fact have CF.

 

[Ratatosk]

I can understand to a certain extent where you're coming from in terms of questioning the diagnosis. I had similar feelings when DS was a baby because we started enzymes right away we didn't ever deal with foul smelling stools. Didn't have lung issues, never brought anything up when we did cpt and the reason I felt as if maybe he didn't have CF was because he had a normal sweat test, so in the back of my mind I was kinda hoping the diagnosis was all just a big mistake and someday someone would call and say whoops.

But I'd never dream of stopping any meds or treatments just to see. And once he cultured pseudo, just kinda hit home that he did in fact have CF.

 

[Ratatosk]

I can understand to a certain extent where you're coming from in terms of questioning the diagnosis. I had similar feelings when DS was a baby because we started enzymes right away we didn't ever deal with foul smelling stools. Didn't have lung issues, never brought anything up when we did cpt and the reason I felt as if maybe he didn't have CF was because he had a normal sweat test, so in the back of my mind I was kinda hoping the diagnosis was all just a big mistake and someday someone would call and say whoops.

But I'd never dream of stopping any meds or treatments just to see. And once he cultured pseudo, just kinda hit home that he did in fact have CF.

 

[Ratatosk]

I can understand to a certain extent where you're coming from in terms of questioning the diagnosis. I had similar feelings when DS was a baby because we started enzymes right away we didn't ever deal with foul smelling stools. Didn't have lung issues, never brought anything up when we did cpt and the reason I felt as if maybe he didn't have CF was because he had a normal sweat test, so in the back of my mind I was kinda hoping the diagnosis was all just a big mistake and someday someone would call and say whoops.

But I'd never dream of stopping any meds or treatments just to see. And once he cultured pseudo, just kinda hit home that he did in fact have CF.

 

[okok]

Hi

First let me say YES it is possible for the lab to confuse f508c with delta f508. In order for this occur ALL of the genetic testing preformed on you, your husband and your daughter would have to have been preformed by the same method. Something to keep in mind (so you don't get your hopes up) is that delf508 is the most common CF mutation so it is more likely delf508. In the following paragraph i try to explain how this error could occur and what you will need to find out in order to figure out if it might have occured.

F508C is a missense mutation where phenylalanine number 508 is converted to a cystiene (in the dna code a T is converted G). Delta f508 is a deletion where the entire codon (3 dna bases) is deleted. If you are concerned that one of your daughter's mutations was mistaken for delta f508 when it was really f508c then you should find out how the genetic test was preformed. Delf508 can easily be detected by using PCR to amplify the portion of the DNA containing the mutation and then seperating the DNA by size on what is called a polyacrylamide gel. If a person has the delf508 deletion (or delta i 507) the DNA will look 3 base pairs smaller on the gel compared to normal DNA. In this case, F508c would not appear to have any mutation at all and would NOT be confused with delf508 since the dna sequence is just changed not deleted. Often though genetic testing is preformed by hybridization of a fluorescent probe to the DNA. In order for a probe to hybridize to the DNA it must match the NORMAL (wt) DNA sequence perfectly. In this case, if a person has either the Delf508 mutation OR the F508C mutation the probe will fail to hybridize to the DNA suggesting that there is a mutation. After detecting a mutation using this method, PCR would have to be preformed in order for the lab to discriminate between delf508 and F508C. DNA sequencing will always differentiate between the two mutations.

Good luck, let us know what you find out.

 

[okok]

Hi

First let me say YES it is possible for the lab to confuse f508c with delta f508. In order for this occur ALL of the genetic testing preformed on you, your husband and your daughter would have to have been preformed by the same method. Something to keep in mind (so you don't get your hopes up) is that delf508 is the most common CF mutation so it is more likely delf508. In the following paragraph i try to explain how this error could occur and what you will need to find out in order to figure out if it might have occured.

F508C is a missense mutation where phenylalanine number 508 is converted to a cystiene (in the dna code a T is converted G). Delta f508 is a deletion where the entire codon (3 dna bases) is deleted. If you are concerned that one of your daughter's mutations was mistaken for delta f508 when it was really f508c then you should find out how the genetic test was preformed. Delf508 can easily be detected by using PCR to amplify the portion of the DNA containing the mutation and then seperating the DNA by size on what is called a polyacrylamide gel. If a person has the delf508 deletion (or delta i 507) the DNA will look 3 base pairs smaller on the gel compared to normal DNA. In this case, F508c would not appear to have any mutation at all and would NOT be confused with delf508 since the dna sequence is just changed not deleted. Often though genetic testing is preformed by hybridization of a fluorescent probe to the DNA. In order for a probe to hybridize to the DNA it must match the NORMAL (wt) DNA sequence perfectly. In this case, if a person has either the Delf508 mutation OR the F508C mutation the probe will fail to hybridize to the DNA suggesting that there is a mutation. After detecting a mutation using this method, PCR would have to be preformed in order for the lab to discriminate between delf508 and F508C. DNA sequencing will always differentiate between the two mutations.

Good luck, let us know what you find out.

 

[okok]

Hi

First let me say YES it is possible for the lab to confuse f508c with delta f508. In order for this occur ALL of the genetic testing preformed on you, your husband and your daughter would have to have been preformed by the same method. Something to keep in mind (so you don't get your hopes up) is that delf508 is the most common CF mutation so it is more likely delf508. In the following paragraph i try to explain how this error could occur and what you will need to find out in order to figure out if it might have occured.

F508C is a missense mutation where phenylalanine number 508 is converted to a cystiene (in the dna code a T is converted G). Delta f508 is a deletion where the entire codon (3 dna bases) is deleted. If you are concerned that one of your daughter's mutations was mistaken for delta f508 when it was really f508c then you should find out how the genetic test was preformed. Delf508 can easily be detected by using PCR to amplify the portion of the DNA containing the mutation and then seperating the DNA by size on what is called a polyacrylamide gel. If a person has the delf508 deletion (or delta i 507) the DNA will look 3 base pairs smaller on the gel compared to normal DNA. In this case, F508c would not appear to have any mutation at all and would NOT be confused with delf508 since the dna sequence is just changed not deleted. Often though genetic testing is preformed by hybridization of a fluorescent probe to the DNA. In order for a probe to hybridize to the DNA it must match the NORMAL (wt) DNA sequence perfectly. In this case, if a person has either the Delf508 mutation OR the F508C mutation the probe will fail to hybridize to the DNA suggesting that there is a mutation. After detecting a mutation using this method, PCR would have to be preformed in order for the lab to discriminate between delf508 and F508C. DNA sequencing will always differentiate between the two mutations.

Good luck, let us know what you find out.

 

[okok]

Hi

First let me say YES it is possible for the lab to confuse f508c with delta f508. In order for this occur ALL of the genetic testing preformed on you, your husband and your daughter would have to have been preformed by the same method. Something to keep in mind (so you don't get your hopes up) is that delf508 is the most common CF mutation so it is more likely delf508. In the following paragraph i try to explain how this error could occur and what you will need to find out in order to figure out if it might have occured.

F508C is a missense mutation where phenylalanine number 508 is converted to a cystiene (in the dna code a T is converted G). Delta f508 is a deletion where the entire codon (3 dna bases) is deleted. If you are concerned that one of your daughter's mutations was mistaken for delta f508 when it was really f508c then you should find out how the genetic test was preformed. Delf508 can easily be detected by using PCR to amplify the portion of the DNA containing the mutation and then seperating the DNA by size on what is called a polyacrylamide gel. If a person has the delf508 deletion (or delta i 507) the DNA will look 3 base pairs smaller on the gel compared to normal DNA. In this case, F508c would not appear to have any mutation at all and would NOT be confused with delf508 since the dna sequence is just changed not deleted. Often though genetic testing is preformed by hybridization of a fluorescent probe to the DNA. In order for a probe to hybridize to the DNA it must match the NORMAL (wt) DNA sequence perfectly. In this case, if a person has either the Delf508 mutation OR the F508C mutation the probe will fail to hybridize to the DNA suggesting that there is a mutation. After detecting a mutation using this method, PCR would have to be preformed in order for the lab to discriminate between delf508 and F508C. DNA sequencing will always differentiate between the two mutations.

Good luck, let us know what you find out.