R117H question

[hmw]

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>
Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.

So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.

One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.

 

[hmw]

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>
Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.

So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.

One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.

 

[hmw]

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>
Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.

So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.

One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.

 

[hmw]

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote>
Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.

So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.

One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.

 

[hmw]

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote>
<br />Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.
<br />
<br />So, if she was tested for <i>both mutations</i> and she only has one, that is wonderful- you can relax and never worry about this again. I truly hope this is the case. But he is not telling you this when he tells you not to worry based on the results of the sweat test alone. If she has these two mutations, she has CF regardless of her sweat test results and she needs to be referred to a CF center where you will learn much more and be given an appropriate course of action.
<br />
<br />One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.

 

[HappyHearts]

This is among many reasons I want a new pedi dmatherne. I'm pretty sure an assistant called me when they received the letter and she stumbled across telling me they got a letter from her newborn screen before I saved her and told her I already got it and knew about it. She then sighed a huge breath of relief so she could continue telling me what to do next. The doctor I saw wasn't awesome when I asked questions at her next appointment either. I should have switched then but I believed them when they said the sweat test was good enough so I didn't know I didn't have a pedi that didn't know enough about this. I'm not a doctor so I'd guess it's normal for doctors to be out of the loop about SOME diseases since there's so much out there? Either way - the doctor should have called me and should have taken my questions more seriously. I had been planning on switching anyway for some other advice they are giving me that I don't appreciate so this just fuels the fire for me. I'm also pretty sure *I* explained to him about the IRT's, etc. and he just kind of nodded his head through it.

I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer. IDK I didn't ask many questions there though b/c I saw them as just someone who performs the test, not sure if they were knowledgeable about CF or anything.

 

[HappyHearts]

This is among many reasons I want a new pedi dmatherne. I'm pretty sure an assistant called me when they received the letter and she stumbled across telling me they got a letter from her newborn screen before I saved her and told her I already got it and knew about it. She then sighed a huge breath of relief so she could continue telling me what to do next. The doctor I saw wasn't awesome when I asked questions at her next appointment either. I should have switched then but I believed them when they said the sweat test was good enough so I didn't know I didn't have a pedi that didn't know enough about this. I'm not a doctor so I'd guess it's normal for doctors to be out of the loop about SOME diseases since there's so much out there? Either way - the doctor should have called me and should have taken my questions more seriously. I had been planning on switching anyway for some other advice they are giving me that I don't appreciate so this just fuels the fire for me. I'm also pretty sure *I* explained to him about the IRT's, etc. and he just kind of nodded his head through it.

I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer. IDK I didn't ask many questions there though b/c I saw them as just someone who performs the test, not sure if they were knowledgeable about CF or anything.

 

[HappyHearts]

This is among many reasons I want a new pedi dmatherne. I'm pretty sure an assistant called me when they received the letter and she stumbled across telling me they got a letter from her newborn screen before I saved her and told her I already got it and knew about it. She then sighed a huge breath of relief so she could continue telling me what to do next. The doctor I saw wasn't awesome when I asked questions at her next appointment either. I should have switched then but I believed them when they said the sweat test was good enough so I didn't know I didn't have a pedi that didn't know enough about this. I'm not a doctor so I'd guess it's normal for doctors to be out of the loop about SOME diseases since there's so much out there? Either way - the doctor should have called me and should have taken my questions more seriously. I had been planning on switching anyway for some other advice they are giving me that I don't appreciate so this just fuels the fire for me. I'm also pretty sure *I* explained to him about the IRT's, etc. and he just kind of nodded his head through it.

I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer. IDK I didn't ask many questions there though b/c I saw them as just someone who performs the test, not sure if they were knowledgeable about CF or anything.

 

[HappyHearts]

This is among many reasons I want a new pedi dmatherne. I'm pretty sure an assistant called me when they received the letter and she stumbled across telling me they got a letter from her newborn screen before I saved her and told her I already got it and knew about it. She then sighed a huge breath of relief so she could continue telling me what to do next. The doctor I saw wasn't awesome when I asked questions at her next appointment either. I should have switched then but I believed them when they said the sweat test was good enough so I didn't know I didn't have a pedi that didn't know enough about this. I'm not a doctor so I'd guess it's normal for doctors to be out of the loop about SOME diseases since there's so much out there? Either way - the doctor should have called me and should have taken my questions more seriously. I had been planning on switching anyway for some other advice they are giving me that I don't appreciate so this just fuels the fire for me. I'm also pretty sure *I* explained to him about the IRT's, etc. and he just kind of nodded his head through it.

I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer. IDK I didn't ask many questions there though b/c I saw them as just someone who performs the test, not sure if they were knowledgeable about CF or anything.

 

[HappyHearts]

This is among many reasons I want a new pedi dmatherne. I'm pretty sure an assistant called me when they received the letter and she stumbled across telling me they got a letter from her newborn screen before I saved her and told her I already got it and knew about it. She then sighed a huge breath of relief so she could continue telling me what to do next. The doctor I saw wasn't awesome when I asked questions at her next appointment either. I should have switched then but I believed them when they said the sweat test was good enough so I didn't know I didn't have a pedi that didn't know enough about this. I'm not a doctor so I'd guess it's normal for doctors to be out of the loop about SOME diseases since there's so much out there? Either way - the doctor should have called me and should have taken my questions more seriously. I had been planning on switching anyway for some other advice they are giving me that I don't appreciate so this just fuels the fire for me. I'm also pretty sure *I* explained to him about the IRT's, etc. and he just kind of nodded his head through it.
<br />
<br />I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer. IDK I didn't ask many questions there though b/c I saw them as just someone who performs the test, not sure if they were knowledgeable about CF or anything.

 

[HappyHearts]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>hmw</b></i>

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>

Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.


One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.</end quote></div>

Yeah I wasn't in love with the wording either. I just assumed they didn't tell the pedi the specifics but now I'm asking myself why they wouldn't share those results.

Good idea - I will call the pedi too. I've been meaning to get her second sweat test numbers anyway just for my records - especially since I plan on switching. Her 1st was really low - I want to say 5 and 6 but I never did hear the numbers for her second.

I just checked and PCH is on CFF.org as a care center so I think it's ok.

Thanks for the input! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[HappyHearts]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>hmw</b></i>

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>

Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.


One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.</end quote></div>

Yeah I wasn't in love with the wording either. I just assumed they didn't tell the pedi the specifics but now I'm asking myself why they wouldn't share those results.

Good idea - I will call the pedi too. I've been meaning to get her second sweat test numbers anyway just for my records - especially since I plan on switching. Her 1st was really low - I want to say 5 and 6 but I never did hear the numbers for her second.

I just checked and PCH is on CFF.org as a care center so I think it's ok.

Thanks for the input! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[HappyHearts]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>hmw</b></i>

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote></div>

Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.


One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.</end quote></div>

Yeah I wasn't in love with the wording either. I just assumed they didn't tell the pedi the specifics but now I'm asking myself why they wouldn't share those results.

Good idea - I will call the pedi too. I've been meaning to get her second sweat test numbers anyway just for my records - especially since I plan on switching. Her 1st was really low - I want to say 5 and 6 but I never did hear the numbers for her second.

I just checked and PCH is on CFF.org as a care center so I think it's ok.

Thanks for the input! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[HappyHearts]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>hmw</b></i>

<div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote>

Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.


One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.</end quote>

Yeah I wasn't in love with the wording either. I just assumed they didn't tell the pedi the specifics but now I'm asking myself why they wouldn't share those results.

Good idea - I will call the pedi too. I've been meaning to get her second sweat test numbers anyway just for my records - especially since I plan on switching. Her 1st was really low - I want to say 5 and 6 but I never did hear the numbers for her second.

I just checked and PCH is on CFF.org as a care center so I think it's ok.

Thanks for the input! <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[HappyHearts]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>hmw</b></i>
<br />
<br /><div class="FTQUOTE"><begin quote>"DNA analysis for the 46 most common CF genes in our population. That test was positive for at least 1 CF gene mutation."</end quote>
<br />
<br />Ask the pediatrician for a copy of the actual results of the test, to find out exactly what her results were; in all likelihood he received more info than you did in that letter. 'At least one' as worded in the testing FAQ is not good enough, since the pediatrician is being too vague with you. If he is telling you the negative sweat test is enough, that is not true. The only thing that is enough to rule out CF is being tested for both mutations and finding that she only carries one of them.
<br />
<br />
<br />One last question: was her sweat test performed by a lab accredited by the CF foundation (generally the labs at hospitals where there are CF centers.) If it was not, the results might not have been accurate.</end quote>
<br />
<br />Yeah I wasn't in love with the wording either. I just assumed they didn't tell the pedi the specifics but now I'm asking myself why they wouldn't share those results.
<br />
<br />Good idea - I will call the pedi too. I've been meaning to get her second sweat test numbers anyway just for my records - especially since I plan on switching. Her 1st was really low - I want to say 5 and 6 but I never did hear the numbers for her second.
<br />
<br />I just checked and PCH is on CFF.org as a care center so I think it's ok.
<br />
<br />Thanks for the input! <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />

 

[dmatherne]

<div class="FTQUOTE"><begin quote>I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer.</end quote></div>

A sweat test is a tool to determine if one has CF. It was all that was used years ago, prior to genetic testing. Genetic testing has now taken place of sweat testing and from my understanding has really made the diagnosis process more complex due to a variety of combinations that don't have enough data to support that they actually cause CF.

The reason for the newborn screen is to diagnose and treat CF in infants and children that have a high probability to have symptoms from CF. These genes may or may not cause any CF related disease, so CF centers across The States have a wide variety of ways to inform and/or treat CF patients.

In our situation the sweat tests don't provide enough of an answer without a full genetic workup. In our case a partial genetic workup was done followed by 2 sweat test, a fecal elastase and then a full genetic test. In almost all cases the sweat test for the df508/R117H is negative or borderline. Our CF center (Tulane Children's in New Orleans, LA) had a genetic counselor that explained all of this to us. I would imagine that Phoenix Children's would have informed you of this if it was applicable.

 

[dmatherne]

<div class="FTQUOTE"><begin quote>I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer.</end quote></div>

A sweat test is a tool to determine if one has CF. It was all that was used years ago, prior to genetic testing. Genetic testing has now taken place of sweat testing and from my understanding has really made the diagnosis process more complex due to a variety of combinations that don't have enough data to support that they actually cause CF.

The reason for the newborn screen is to diagnose and treat CF in infants and children that have a high probability to have symptoms from CF. These genes may or may not cause any CF related disease, so CF centers across The States have a wide variety of ways to inform and/or treat CF patients.

In our situation the sweat tests don't provide enough of an answer without a full genetic workup. In our case a partial genetic workup was done followed by 2 sweat test, a fecal elastase and then a full genetic test. In almost all cases the sweat test for the df508/R117H is negative or borderline. Our CF center (Tulane Children's in New Orleans, LA) had a genetic counselor that explained all of this to us. I would imagine that Phoenix Children's would have informed you of this if it was applicable.

 

[dmatherne]

<div class="FTQUOTE"><begin quote>I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer.</end quote></div>

A sweat test is a tool to determine if one has CF. It was all that was used years ago, prior to genetic testing. Genetic testing has now taken place of sweat testing and from my understanding has really made the diagnosis process more complex due to a variety of combinations that don't have enough data to support that they actually cause CF.

The reason for the newborn screen is to diagnose and treat CF in infants and children that have a high probability to have symptoms from CF. These genes may or may not cause any CF related disease, so CF centers across The States have a wide variety of ways to inform and/or treat CF patients.

In our situation the sweat tests don't provide enough of an answer without a full genetic workup. In our case a partial genetic workup was done followed by 2 sweat test, a fecal elastase and then a full genetic test. In almost all cases the sweat test for the df508/R117H is negative or borderline. Our CF center (Tulane Children's in New Orleans, LA) had a genetic counselor that explained all of this to us. I would imagine that Phoenix Children's would have informed you of this if it was applicable.

 

[dmatherne]

<div class="FTQUOTE"><begin quote>I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer.</end quote>

A sweat test is a tool to determine if one has CF. It was all that was used years ago, prior to genetic testing. Genetic testing has now taken place of sweat testing and from my understanding has really made the diagnosis process more complex due to a variety of combinations that don't have enough data to support that they actually cause CF.

The reason for the newborn screen is to diagnose and treat CF in infants and children that have a high probability to have symptoms from CF. These genes may or may not cause any CF related disease, so CF centers across The States have a wide variety of ways to inform and/or treat CF patients.

In our situation the sweat tests don't provide enough of an answer without a full genetic workup. In our case a partial genetic workup was done followed by 2 sweat test, a fecal elastase and then a full genetic test. In almost all cases the sweat test for the df508/R117H is negative or borderline. Our CF center (Tulane Children's in New Orleans, LA) had a genetic counselor that explained all of this to us. I would imagine that Phoenix Children's would have informed you of this if it was applicable.

 

[dmatherne]

<div class="FTQUOTE"><begin quote>I'm assuming the CF center is the same place we had her test done? It was at Phoenix Children's hospital and the tech we saw for both sweat tests also said a sweat test was enough of an answer.</end quote>
<br />
<br />A sweat test is a tool to determine if one has CF. It was all that was used years ago, prior to genetic testing. Genetic testing has now taken place of sweat testing and from my understanding has really made the diagnosis process more complex due to a variety of combinations that don't have enough data to support that they actually cause CF.
<br />
<br />The reason for the newborn screen is to diagnose and treat CF in infants and children that have a high probability to have symptoms from CF. These genes may or may not cause any CF related disease, so CF centers across The States have a wide variety of ways to inform and/or treat CF patients.
<br />
<br />In our situation the sweat tests don't provide enough of an answer without a full genetic workup. In our case a partial genetic workup was done followed by 2 sweat test, a fecal elastase and then a full genetic test. In almost all cases the sweat test for the df508/R117H is negative or borderline. Our CF center (Tulane Children's in New Orleans, LA) had a genetic counselor that explained all of this to us. I would imagine that Phoenix Children's would have informed you of this if it was applicable.