3 mo. old - Borderline sweat test

MomOfMiles · Oct 31, 2008

Thanks ladies!

At our appointment today, Miles had gained 7-8 oz. since Monday, so they were really pleased with that. We spoke about the CF screening again and the doctor really tried to be positive about the test, but it seems like a lot of borderline results end up with a CF diagnosis. Are my assumptions about the 3 options correct? It still could be nothing, not even a carrier?

Oh, when I asked about the test they did she said it was the one that just tests for the most common mutations, so I guess we'll see what this first one comes up with. Should I request (or politely demand) another sweat test or DNA test? Or do I let it go?

We are changing pediatricians because we're moving on Saturday. I hope we are able to find a good doctor that will be straight with me, not just sunshine and lollipops about everything.

Oh my word, a 6 week wait?? They said ours would be 2-3 weeks. Ack!

I feel so blessed that I am a stay at home mom now so that we can take care of this, whatever the problem is.

Any other advice on what kinds of questions to ask of our new pediatrician?

Thanks again!

MomOfMiles · Oct 31, 2008

Thanks ladies!

At our appointment today, Miles had gained 7-8 oz. since Monday, so they were really pleased with that. We spoke about the CF screening again and the doctor really tried to be positive about the test, but it seems like a lot of borderline results end up with a CF diagnosis. Are my assumptions about the 3 options correct? It still could be nothing, not even a carrier?

Oh, when I asked about the test they did she said it was the one that just tests for the most common mutations, so I guess we'll see what this first one comes up with. Should I request (or politely demand) another sweat test or DNA test? Or do I let it go?

We are changing pediatricians because we're moving on Saturday. I hope we are able to find a good doctor that will be straight with me, not just sunshine and lollipops about everything.

Oh my word, a 6 week wait?? They said ours would be 2-3 weeks. Ack!

I feel so blessed that I am a stay at home mom now so that we can take care of this, whatever the problem is.

Any other advice on what kinds of questions to ask of our new pediatrician?

Thanks again!

MomOfMiles · Oct 31, 2008

Thanks ladies!

At our appointment today, Miles had gained 7-8 oz. since Monday, so they were really pleased with that. We spoke about the CF screening again and the doctor really tried to be positive about the test, but it seems like a lot of borderline results end up with a CF diagnosis. Are my assumptions about the 3 options correct? It still could be nothing, not even a carrier?

Oh, when I asked about the test they did she said it was the one that just tests for the most common mutations, so I guess we'll see what this first one comes up with. Should I request (or politely demand) another sweat test or DNA test? Or do I let it go?

We are changing pediatricians because we're moving on Saturday. I hope we are able to find a good doctor that will be straight with me, not just sunshine and lollipops about everything.

Oh my word, a 6 week wait?? They said ours would be 2-3 weeks. Ack!

I feel so blessed that I am a stay at home mom now so that we can take care of this, whatever the problem is.

Any other advice on what kinds of questions to ask of our new pediatrician?

Thanks again!

MomOfMiles · Oct 31, 2008

Thanks ladies!

At our appointment today, Miles had gained 7-8 oz. since Monday, so they were really pleased with that. We spoke about the CF screening again and the doctor really tried to be positive about the test, but it seems like a lot of borderline results end up with a CF diagnosis. Are my assumptions about the 3 options correct? It still could be nothing, not even a carrier?

Oh, when I asked about the test they did she said it was the one that just tests for the most common mutations, so I guess we'll see what this first one comes up with. Should I request (or politely demand) another sweat test or DNA test? Or do I let it go?

We are changing pediatricians because we're moving on Saturday. I hope we are able to find a good doctor that will be straight with me, not just sunshine and lollipops about everything.

Oh my word, a 6 week wait?? They said ours would be 2-3 weeks. Ack!

I feel so blessed that I am a stay at home mom now so that we can take care of this, whatever the problem is.

Any other advice on what kinds of questions to ask of our new pediatrician?

Thanks again!

MomOfMiles · Oct 31, 2008

Thanks ladies!
 
 At our appointment today, Miles had gained 7-8 oz. since Monday, so they were really pleased with that. We spoke about the CF screening again and the doctor really tried to be positive about the test, but it seems like a lot of borderline results end up with a CF diagnosis. Are my assumptions about the 3 options correct? It still could be nothing, not even a carrier?
 
 Oh, when I asked about the test they did she said it was the one that just tests for the most common mutations, so I guess we'll see what this first one comes up with. Should I request (or politely demand) another sweat test or DNA test? Or do I let it go?
 
 We are changing pediatricians because we're moving on Saturday. I hope we are able to find a good doctor that will be straight with me, not just sunshine and lollipops about everything.
 
 Oh my word, a 6 week wait?? They said ours would be 2-3 weeks. Ack!
 
 I feel so blessed that I am a stay at home mom now so that we can take care of this, whatever the problem is.
 
 Any other advice on what kinds of questions to ask of our new pediatrician?
 
 Thanks again!

TonyaH · Oct 31, 2008

I would say this is an excellent opportunity to interview new pediatricians. You can explain your concerns and your knowledge of the Ambry test compared to other mutation tests, and see which doctor you feel is the most proactive and willing to jump on board to help you figure out what's going on. Try to remember that you are the "customer" and you should expect the same level of medical care with your new doctor that you are recieving from your current one. How far away are you moving? Perhaps your current pediatrician knows of someone they could recommend. When we transfered from Michigan to North Carolina two years ago I did not even look for a pediatrician. I went right to our new CF doctor and asked her who she would work well with and who knows CF. We love him and the two doctors do work very well together. Referrals are always the way to go when you can! Good luck with the move and keep us posted!

TonyaH · Oct 31, 2008

I would say this is an excellent opportunity to interview new pediatricians. You can explain your concerns and your knowledge of the Ambry test compared to other mutation tests, and see which doctor you feel is the most proactive and willing to jump on board to help you figure out what's going on. Try to remember that you are the "customer" and you should expect the same level of medical care with your new doctor that you are recieving from your current one. How far away are you moving? Perhaps your current pediatrician knows of someone they could recommend. When we transfered from Michigan to North Carolina two years ago I did not even look for a pediatrician. I went right to our new CF doctor and asked her who she would work well with and who knows CF. We love him and the two doctors do work very well together. Referrals are always the way to go when you can! Good luck with the move and keep us posted!

TonyaH · Oct 31, 2008

I would say this is an excellent opportunity to interview new pediatricians. You can explain your concerns and your knowledge of the Ambry test compared to other mutation tests, and see which doctor you feel is the most proactive and willing to jump on board to help you figure out what's going on. Try to remember that you are the "customer" and you should expect the same level of medical care with your new doctor that you are recieving from your current one. How far away are you moving? Perhaps your current pediatrician knows of someone they could recommend. When we transfered from Michigan to North Carolina two years ago I did not even look for a pediatrician. I went right to our new CF doctor and asked her who she would work well with and who knows CF. We love him and the two doctors do work very well together. Referrals are always the way to go when you can! Good luck with the move and keep us posted!

TonyaH · Oct 31, 2008

I would say this is an excellent opportunity to interview new pediatricians. You can explain your concerns and your knowledge of the Ambry test compared to other mutation tests, and see which doctor you feel is the most proactive and willing to jump on board to help you figure out what's going on. Try to remember that you are the "customer" and you should expect the same level of medical care with your new doctor that you are recieving from your current one. How far away are you moving? Perhaps your current pediatrician knows of someone they could recommend. When we transfered from Michigan to North Carolina two years ago I did not even look for a pediatrician. I went right to our new CF doctor and asked her who she would work well with and who knows CF. We love him and the two doctors do work very well together. Referrals are always the way to go when you can! Good luck with the move and keep us posted!

TonyaH · Oct 31, 2008

I would say this is an excellent opportunity to interview new pediatricians. You can explain your concerns and your knowledge of the Ambry test compared to other mutation tests, and see which doctor you feel is the most proactive and willing to jump on board to help you figure out what's going on. Try to remember that you are the "customer" and you should expect the same level of medical care with your new doctor that you are recieving from your current one. How far away are you moving? Perhaps your current pediatrician knows of someone they could recommend. When we transfered from Michigan to North Carolina two years ago I did not even look for a pediatrician. I went right to our new CF doctor and asked her who she would work well with and who knows CF. We love him and the two doctors do work very well together. Referrals are always the way to go when you can! Good luck with the move and keep us posted!

JazzysMom · Oct 31, 2008

The more mutations or extensive the genetic testing the longer it takes. It sounds like you are getting the basic panel (100 or so mutations) which only takes a few weeks, but the full comprehensive panel can take up to 6 weeks.

The %% you are speaking of is correct. IF both of you are carriers of the CF Gene that with each pregnancy there is a 25% of no CF or being a carrier; 50% chance of carrier, but no CF & 25% of having CF (which obvious means being a carrier also).

As to what happens if no mutations are found in the testing that is ordered....I think many of us would say push for the full panel to be sure. Its not always that simple especially when insurance companies & some doctors are resistant to just jumping that far ahead.

If you had to wait to see if symptoms persist or get worse I would be careful not to let anything go to far before going to the next level.

JazzysMom · Oct 31, 2008

The more mutations or extensive the genetic testing the longer it takes. It sounds like you are getting the basic panel (100 or so mutations) which only takes a few weeks, but the full comprehensive panel can take up to 6 weeks.

The %% you are speaking of is correct. IF both of you are carriers of the CF Gene that with each pregnancy there is a 25% of no CF or being a carrier; 50% chance of carrier, but no CF & 25% of having CF (which obvious means being a carrier also).

As to what happens if no mutations are found in the testing that is ordered....I think many of us would say push for the full panel to be sure. Its not always that simple especially when insurance companies & some doctors are resistant to just jumping that far ahead.

If you had to wait to see if symptoms persist or get worse I would be careful not to let anything go to far before going to the next level.

JazzysMom · Oct 31, 2008

The more mutations or extensive the genetic testing the longer it takes. It sounds like you are getting the basic panel (100 or so mutations) which only takes a few weeks, but the full comprehensive panel can take up to 6 weeks.

The %% you are speaking of is correct. IF both of you are carriers of the CF Gene that with each pregnancy there is a 25% of no CF or being a carrier; 50% chance of carrier, but no CF & 25% of having CF (which obvious means being a carrier also).

As to what happens if no mutations are found in the testing that is ordered....I think many of us would say push for the full panel to be sure. Its not always that simple especially when insurance companies & some doctors are resistant to just jumping that far ahead.

If you had to wait to see if symptoms persist or get worse I would be careful not to let anything go to far before going to the next level.

JazzysMom · Oct 31, 2008

The more mutations or extensive the genetic testing the longer it takes. It sounds like you are getting the basic panel (100 or so mutations) which only takes a few weeks, but the full comprehensive panel can take up to 6 weeks.

The %% you are speaking of is correct. IF both of you are carriers of the CF Gene that with each pregnancy there is a 25% of no CF or being a carrier; 50% chance of carrier, but no CF & 25% of having CF (which obvious means being a carrier also).

As to what happens if no mutations are found in the testing that is ordered....I think many of us would say push for the full panel to be sure. Its not always that simple especially when insurance companies & some doctors are resistant to just jumping that far ahead.

If you had to wait to see if symptoms persist or get worse I would be careful not to let anything go to far before going to the next level.

JazzysMom · Oct 31, 2008

The more mutations or extensive the genetic testing the longer it takes. It sounds like you are getting the basic panel (100 or so mutations) which only takes a few weeks, but the full comprehensive panel can take up to 6 weeks.
 
 The %% you are speaking of is correct. IF both of you are carriers of the CF Gene that with each pregnancy there is a 25% of no CF or being a carrier; 50% chance of carrier, but no CF & 25% of having CF (which obvious means being a carrier also).
 
 As to what happens if no mutations are found in the testing that is ordered....I think many of us would say push for the full panel to be sure. Its not always that simple especially when insurance companies & some doctors are resistant to just jumping that far ahead.
 
 If you had to wait to see if symptoms persist or get worse I would be careful not to let anything go to far before going to the next level.

MomOfMiles · Oct 31, 2008

Do you all know of any way to find out what percentage of patients receiving a borderline test are eventually diagnosed with CF, no CF, or only a carrier gene? I'm not sure if that would make me feel better or not, but I'm just curious.

Is it correct that people who receive a borderline sweat test likely have an atypical or mild form of CF if it is diagnosed?

MomOfMiles · Oct 31, 2008

Do you all know of any way to find out what percentage of patients receiving a borderline test are eventually diagnosed with CF, no CF, or only a carrier gene? I'm not sure if that would make me feel better or not, but I'm just curious.

Is it correct that people who receive a borderline sweat test likely have an atypical or mild form of CF if it is diagnosed?

MomOfMiles · Oct 31, 2008

Do you all know of any way to find out what percentage of patients receiving a borderline test are eventually diagnosed with CF, no CF, or only a carrier gene? I'm not sure if that would make me feel better or not, but I'm just curious.

Is it correct that people who receive a borderline sweat test likely have an atypical or mild form of CF if it is diagnosed?

MomOfMiles · Oct 31, 2008

Do you all know of any way to find out what percentage of patients receiving a borderline test are eventually diagnosed with CF, no CF, or only a carrier gene? I'm not sure if that would make me feel better or not, but I'm just curious.

Is it correct that people who receive a borderline sweat test likely have an atypical or mild form of CF if it is diagnosed?

MomOfMiles · Oct 31, 2008

Do you all know of any way to find out what percentage of patients receiving a borderline test are eventually diagnosed with CF, no CF, or only a carrier gene? I'm not sure if that would make me feel better or not, but I'm just curious.
 
 Is it correct that people who receive a borderline sweat test likely have an atypical or mild form of CF if it is diagnosed?

3 mo. old - Borderline sweat test

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