Lost in the Diagnosis Process

MaineNature · Sep 21, 2009

Being a Grammie is a delight but it can be frustrating!

I called the state lab myself to see what the hold up was since it's been 2 mos since they redid the NBS. (I still don't even know exactly what either of the screenings were, the person asked if it was CFB or CFC & something about the CFB was 1 in 39. I'm guessing again that that means only 39 mutations? It sounded like if it was the CFB that she could be a carrier? I'm so confused!)

They said the doctor did get the results & that's why the sweat test was ordered. Because she couldn't get into specifics with me I read between the lines that apparently the 2nd screening was also positive?

I understand the doctor wrote a letter to Mom & Dad saying that the sweat test was "normal" & she would discuss it with her on the baby's next office visit--in ANOTHER MONTH!!!! Geeze........this makes me crazy!

I hope I can go to the next dr. appointment & ask what the actual numbers were for the sweat test and if we can have copies of the reports of the screenings, etc.

Is there further genetic testing that can or should be done on baby & on Mom & Dad?

I'd normally be jumping for joy. But I just don't feel like the investigation has been complete enough, esp. when her poops aren't normal & she has congestion......

A worried Grammie,
aka Sue

MaineNature · Sep 21, 2009

Being a Grammie is a delight but it can be frustrating!

I called the state lab myself to see what the hold up was since it's been 2 mos since they redid the NBS. (I still don't even know exactly what either of the screenings were, the person asked if it was CFB or CFC & something about the CFB was 1 in 39. I'm guessing again that that means only 39 mutations? It sounded like if it was the CFB that she could be a carrier? I'm so confused!)

They said the doctor did get the results & that's why the sweat test was ordered. Because she couldn't get into specifics with me I read between the lines that apparently the 2nd screening was also positive?

I understand the doctor wrote a letter to Mom & Dad saying that the sweat test was "normal" & she would discuss it with her on the baby's next office visit--in ANOTHER MONTH!!!! Geeze........this makes me crazy!

I hope I can go to the next dr. appointment & ask what the actual numbers were for the sweat test and if we can have copies of the reports of the screenings, etc.

Is there further genetic testing that can or should be done on baby & on Mom & Dad?

I'd normally be jumping for joy. But I just don't feel like the investigation has been complete enough, esp. when her poops aren't normal & she has congestion......

A worried Grammie,
aka Sue

MaineNature · Sep 21, 2009

Being a Grammie is a delight but it can be frustrating!

I called the state lab myself to see what the hold up was since it's been 2 mos since they redid the NBS. (I still don't even know exactly what either of the screenings were, the person asked if it was CFB or CFC & something about the CFB was 1 in 39. I'm guessing again that that means only 39 mutations? It sounded like if it was the CFB that she could be a carrier? I'm so confused!)

They said the doctor did get the results & that's why the sweat test was ordered. Because she couldn't get into specifics with me I read between the lines that apparently the 2nd screening was also positive?

I understand the doctor wrote a letter to Mom & Dad saying that the sweat test was "normal" & she would discuss it with her on the baby's next office visit--in ANOTHER MONTH!!!! Geeze........this makes me crazy!

I hope I can go to the next dr. appointment & ask what the actual numbers were for the sweat test and if we can have copies of the reports of the screenings, etc.

Is there further genetic testing that can or should be done on baby & on Mom & Dad?

I'd normally be jumping for joy. But I just don't feel like the investigation has been complete enough, esp. when her poops aren't normal & she has congestion......

A worried Grammie,
aka Sue

MaineNature · Sep 21, 2009

Being a Grammie is a delight but it can be frustrating!

I called the state lab myself to see what the hold up was since it's been 2 mos since they redid the NBS. (I still don't even know exactly what either of the screenings were, the person asked if it was CFB or CFC & something about the CFB was 1 in 39. I'm guessing again that that means only 39 mutations? It sounded like if it was the CFB that she could be a carrier? I'm so confused!)

They said the doctor did get the results & that's why the sweat test was ordered. Because she couldn't get into specifics with me I read between the lines that apparently the 2nd screening was also positive?

I understand the doctor wrote a letter to Mom & Dad saying that the sweat test was "normal" & she would discuss it with her on the baby's next office visit--in ANOTHER MONTH!!!! Geeze........this makes me crazy!

I hope I can go to the next dr. appointment & ask what the actual numbers were for the sweat test and if we can have copies of the reports of the screenings, etc.

Is there further genetic testing that can or should be done on baby & on Mom & Dad?

I'd normally be jumping for joy. But I just don't feel like the investigation has been complete enough, esp. when her poops aren't normal & she has congestion......

A worried Grammie,
aka Sue

MaineNature · Sep 21, 2009

Being a Grammie is a delight but it can be frustrating!
 
 I called the state lab myself to see what the hold up was since it's been 2 mos since they redid the NBS. (I still don't even know exactly what either of the screenings were, the person asked if it was CFB or CFC & something about the CFB was 1 in 39. I'm guessing again that that means only 39 mutations? It sounded like if it was the CFB that she could be a carrier? I'm so confused!)
 
 They said the doctor did get the results & that's why the sweat test was ordered. Because she couldn't get into specifics with me I read between the lines that apparently the 2nd screening was also positive?
 
 I understand the doctor wrote a letter to Mom & Dad saying that the sweat test was "normal" & she would discuss it with her on the baby's next office visit--in ANOTHER MONTH!!!! Geeze........this makes me crazy!
 
 I hope I can go to the next dr. appointment & ask what the actual numbers were for the sweat test and if we can have copies of the reports of the screenings, etc.
 
 Is there further genetic testing that can or should be done on baby & on Mom & Dad?
 
 I'd normally be jumping for joy. But I just don't feel like the investigation has been complete enough, esp. when her poops aren't normal & she has congestion......
 
 
 A worried Grammie,
 aka Sue

just1more · Sep 21, 2009

Ok, let me see if I can outline the process.

The newborn screening looks for several markers, but normally does not actually confirm CF.

If you have a positive NBS it is an indicator that you need to test and confirm/rule-out CF.

Historically, the sweat test was the golden standard. However, there is a LOT of variability in results. Different clinics can get drastically different results. In addition, it is possible to have a borderline or even low sweat test and still have CF.

At this point, a genetic test is normally used to confirm CF. There are nearly 1500 possible mutations, if you have 2 then you have CF. If you have 1 you are a carrier.

Often they start with a simple test, such as the most common 39 or 90ish mutations; as it is cheaper and catches the majority of cases. If they don't find 2 but still suspect CF, you can order a complete 1500+ mutation test from Ambry that will confirm yes/no to >99%.

If your grandbaby had a positive NBS, and at least one if not 2 positive or borderline sweat tests, you need the genetic test. It is the ONLY way to know for sure.

If she is not being seen at an accredited CF center, I would strongly suggest you locate the nearest one and get an appointment as they can run the tests and hopefully get you a clear answer.

You can find a list of centers at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">CF Center Lookup</a>

Hope this helps,

just1more · Sep 21, 2009

Ok, let me see if I can outline the process.

The newborn screening looks for several markers, but normally does not actually confirm CF.

If you have a positive NBS it is an indicator that you need to test and confirm/rule-out CF.

Historically, the sweat test was the golden standard. However, there is a LOT of variability in results. Different clinics can get drastically different results. In addition, it is possible to have a borderline or even low sweat test and still have CF.

At this point, a genetic test is normally used to confirm CF. There are nearly 1500 possible mutations, if you have 2 then you have CF. If you have 1 you are a carrier.

Often they start with a simple test, such as the most common 39 or 90ish mutations; as it is cheaper and catches the majority of cases. If they don't find 2 but still suspect CF, you can order a complete 1500+ mutation test from Ambry that will confirm yes/no to >99%.

If your grandbaby had a positive NBS, and at least one if not 2 positive or borderline sweat tests, you need the genetic test. It is the ONLY way to know for sure.

If she is not being seen at an accredited CF center, I would strongly suggest you locate the nearest one and get an appointment as they can run the tests and hopefully get you a clear answer.

You can find a list of centers at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">CF Center Lookup</a>

Hope this helps,

just1more · Sep 21, 2009

Ok, let me see if I can outline the process.

The newborn screening looks for several markers, but normally does not actually confirm CF.

If you have a positive NBS it is an indicator that you need to test and confirm/rule-out CF.

Historically, the sweat test was the golden standard. However, there is a LOT of variability in results. Different clinics can get drastically different results. In addition, it is possible to have a borderline or even low sweat test and still have CF.

At this point, a genetic test is normally used to confirm CF. There are nearly 1500 possible mutations, if you have 2 then you have CF. If you have 1 you are a carrier.

Often they start with a simple test, such as the most common 39 or 90ish mutations; as it is cheaper and catches the majority of cases. If they don't find 2 but still suspect CF, you can order a complete 1500+ mutation test from Ambry that will confirm yes/no to >99%.

If your grandbaby had a positive NBS, and at least one if not 2 positive or borderline sweat tests, you need the genetic test. It is the ONLY way to know for sure.

If she is not being seen at an accredited CF center, I would strongly suggest you locate the nearest one and get an appointment as they can run the tests and hopefully get you a clear answer.

You can find a list of centers at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">CF Center Lookup</a>

Hope this helps,

just1more · Sep 21, 2009

Ok, let me see if I can outline the process.

The newborn screening looks for several markers, but normally does not actually confirm CF.

If you have a positive NBS it is an indicator that you need to test and confirm/rule-out CF.

Historically, the sweat test was the golden standard. However, there is a LOT of variability in results. Different clinics can get drastically different results. In addition, it is possible to have a borderline or even low sweat test and still have CF.

At this point, a genetic test is normally used to confirm CF. There are nearly 1500 possible mutations, if you have 2 then you have CF. If you have 1 you are a carrier.

Often they start with a simple test, such as the most common 39 or 90ish mutations; as it is cheaper and catches the majority of cases. If they don't find 2 but still suspect CF, you can order a complete 1500+ mutation test from Ambry that will confirm yes/no to >99%.

If your grandbaby had a positive NBS, and at least one if not 2 positive or borderline sweat tests, you need the genetic test. It is the ONLY way to know for sure.

If she is not being seen at an accredited CF center, I would strongly suggest you locate the nearest one and get an appointment as they can run the tests and hopefully get you a clear answer.

You can find a list of centers at:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">CF Center Lookup</a>

Hope this helps,

just1more · Sep 21, 2009

Ok, let me see if I can outline the process.
 
 The newborn screening looks for several markers, but normally does not actually confirm CF.
 
 If you have a positive NBS it is an indicator that you need to test and confirm/rule-out CF.
 
 Historically, the sweat test was the golden standard. However, there is a LOT of variability in results. Different clinics can get drastically different results. In addition, it is possible to have a borderline or even low sweat test and still have CF.
 
 At this point, a genetic test is normally used to confirm CF. There are nearly 1500 possible mutations, if you have 2 then you have CF. If you have 1 you are a carrier.
 
 Often they start with a simple test, such as the most common 39 or 90ish mutations; as it is cheaper and catches the majority of cases. If they don't find 2 but still suspect CF, you can order a complete 1500+ mutation test from Ambry that will confirm yes/no to >99%.
 
 If your grandbaby had a positive NBS, and at least one if not 2 positive or borderline sweat tests, you need the genetic test. It is the ONLY way to know for sure.
 
 If she is not being seen at an accredited CF center, I would strongly suggest you locate the nearest one and get an appointment as they can run the tests and hopefully get you a clear answer.
 
 You can find a list of centers at:
 
 <a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosis.com/cfcenters.cfm">CF Center Lookup</a>
 
 Hope this helps,

MaineNature · Sep 22, 2009

Thank you Tom, very much! This helps me to understand alot. I feel like I've been trying to look through jello! People speak in generalities so much, so it's hard to sort out "test", what test, "normal"--define normal, etc. Even doctors often speak in such general terms.

I'm not sure about the sweat test, such as what the numbers actually were and also the hospital has an accredited CF center but whether they are the dept that actually did the test or if it was just the hospital lab in general, I'm not sure.

Thanks to you I have a clearer idea of what to look for and what to ask.

I'm also amazed at you! You're kids are lucky to have such a great Dad. Wow! 9 kids???? how do you do it????????

Thanks again,
Sue

MaineNature · Sep 22, 2009

Thank you Tom, very much! This helps me to understand alot. I feel like I've been trying to look through jello! People speak in generalities so much, so it's hard to sort out "test", what test, "normal"--define normal, etc. Even doctors often speak in such general terms.

I'm not sure about the sweat test, such as what the numbers actually were and also the hospital has an accredited CF center but whether they are the dept that actually did the test or if it was just the hospital lab in general, I'm not sure.

Thanks to you I have a clearer idea of what to look for and what to ask.

I'm also amazed at you! You're kids are lucky to have such a great Dad. Wow! 9 kids???? how do you do it????????

Thanks again,
Sue

MaineNature · Sep 22, 2009

Thank you Tom, very much! This helps me to understand alot. I feel like I've been trying to look through jello! People speak in generalities so much, so it's hard to sort out "test", what test, "normal"--define normal, etc. Even doctors often speak in such general terms.

I'm not sure about the sweat test, such as what the numbers actually were and also the hospital has an accredited CF center but whether they are the dept that actually did the test or if it was just the hospital lab in general, I'm not sure.

Thanks to you I have a clearer idea of what to look for and what to ask.

I'm also amazed at you! You're kids are lucky to have such a great Dad. Wow! 9 kids???? how do you do it????????

Thanks again,
Sue

MaineNature · Sep 22, 2009

Thank you Tom, very much! This helps me to understand alot. I feel like I've been trying to look through jello! People speak in generalities so much, so it's hard to sort out "test", what test, "normal"--define normal, etc. Even doctors often speak in such general terms.

I'm not sure about the sweat test, such as what the numbers actually were and also the hospital has an accredited CF center but whether they are the dept that actually did the test or if it was just the hospital lab in general, I'm not sure.

Thanks to you I have a clearer idea of what to look for and what to ask.

I'm also amazed at you! You're kids are lucky to have such a great Dad. Wow! 9 kids???? how do you do it????????

Thanks again,
Sue

MaineNature · Sep 22, 2009

Thank you Tom, very much! This helps me to understand alot. I feel like I've been trying to look through jello! People speak in generalities so much, so it's hard to sort out "test", what test, "normal"--define normal, etc. Even doctors often speak in such general terms.
 
 I'm not sure about the sweat test, such as what the numbers actually were and also the hospital has an accredited CF center but whether they are the dept that actually did the test or if it was just the hospital lab in general, I'm not sure.
 
 Thanks to you I have a clearer idea of what to look for and what to ask.
 
 I'm also amazed at you! You're kids are lucky to have such a great Dad. Wow! 9 kids???? how do you do it????????
 
 Thanks again,
 Sue

Lost in the Diagnosis Process

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