Nervously Waiting for Results

[okok]

I wish i had advice about how to get through the horrible waiting period. The only advice i have is to maybe pick up the new harry potter book and immerse yourself in his drama for a while. Since that won't get you through the whole three weeks maybe pick up some other great novels... I like dorthy dunnet and jane austin and the bronte sisters.

PS

If your sweat chloride was measured by conductivity then the range that your doctor's give you is probably accurate since the range people cite on this website refers directly to the concentration of chloride in the sweat not a conductivity measurment.

 

[okok]

I wish i had advice about how to get through the horrible waiting period. The only advice i have is to maybe pick up the new harry potter book and immerse yourself in his drama for a while. Since that won't get you through the whole three weeks maybe pick up some other great novels... I like dorthy dunnet and jane austin and the bronte sisters.

PS

If your sweat chloride was measured by conductivity then the range that your doctor's give you is probably accurate since the range people cite on this website refers directly to the concentration of chloride in the sweat not a conductivity measurment.

 

[concernedmom]

Have they tested you for primary ciliary dyskinesia (PCD)? If not, if a full sequencing genetic test comes back negative for CF, I'd request a cilia biopsy to rule out PCD. Chronic sinusitis and bronchiecstasis are also signs of PCD.

Just to reiterate though, if the genetic testing you've had done is not a full sequencing test, even if it finds no genes, there would still be a possibility that you have CF.

 

[concernedmom]

Have they tested you for primary ciliary dyskinesia (PCD)? If not, if a full sequencing genetic test comes back negative for CF, I'd request a cilia biopsy to rule out PCD. Chronic sinusitis and bronchiecstasis are also signs of PCD.

Just to reiterate though, if the genetic testing you've had done is not a full sequencing test, even if it finds no genes, there would still be a possibility that you have CF.

 

[concernedmom]

Have they tested you for primary ciliary dyskinesia (PCD)? If not, if a full sequencing genetic test comes back negative for CF, I'd request a cilia biopsy to rule out PCD. Chronic sinusitis and bronchiecstasis are also signs of PCD.

Just to reiterate though, if the genetic testing you've had done is not a full sequencing test, even if it finds no genes, there would still be a possibility that you have CF.

 

[concernedmom]

Have they tested you for primary ciliary dyskinesia (PCD)? If not, if a full sequencing genetic test comes back negative for CF, I'd request a cilia biopsy to rule out PCD. Chronic sinusitis and bronchiecstasis are also signs of PCD.

Just to reiterate though, if the genetic testing you've had done is not a full sequencing test, even if it finds no genes, there would still be a possibility that you have CF.

 

[concernedmom]

Have they tested you for primary ciliary dyskinesia (PCD)? If not, if a full sequencing genetic test comes back negative for CF, I'd request a cilia biopsy to rule out PCD. Chronic sinusitis and bronchiecstasis are also signs of PCD.

Just to reiterate though, if the genetic testing you've had done is not a full sequencing test, even if it finds no genes, there would still be a possibility that you have CF.

 

[concernedmom]

Have they tested you for primary ciliary dyskinesia (PCD)? If not, if a full sequencing genetic test comes back negative for CF, I'd request a cilia biopsy to rule out PCD. Chronic sinusitis and bronchiecstasis are also signs of PCD.

Just to reiterate though, if the genetic testing you've had done is not a full sequencing test, even if it finds no genes, there would still be a possibility that you have CF.

 

[Nervous1]

Thanks for all your responses!

I got the results of the genetic testing back. They tested 12 mutations most prevelant for Ashkenazi Jews, and all were negative.

In order to get approval for a more complete test I need a recommendation from a genetecist. However, the geneticist claims that the 12 tested 100% rule out CF considering my family background.

Obviously I would be happy to rule out CF, but I would be even happier to get a final diagnosis and treatment that might improve my quality of life. I don't know whether to insist and find some other way to get approval for testing.

Sorry for venting, I'm very frustrated.

 

[Nervous1]

Thanks for all your responses!

I got the results of the genetic testing back. They tested 12 mutations most prevelant for Ashkenazi Jews, and all were negative.

In order to get approval for a more complete test I need a recommendation from a genetecist. However, the geneticist claims that the 12 tested 100% rule out CF considering my family background.

Obviously I would be happy to rule out CF, but I would be even happier to get a final diagnosis and treatment that might improve my quality of life. I don't know whether to insist and find some other way to get approval for testing.

Sorry for venting, I'm very frustrated.

 

[Nervous1]

Thanks for all your responses!

I got the results of the genetic testing back. They tested 12 mutations most prevelant for Ashkenazi Jews, and all were negative.

In order to get approval for a more complete test I need a recommendation from a genetecist. However, the geneticist claims that the 12 tested 100% rule out CF considering my family background.

Obviously I would be happy to rule out CF, but I would be even happier to get a final diagnosis and treatment that might improve my quality of life. I don't know whether to insist and find some other way to get approval for testing.

Sorry for venting, I'm very frustrated.

 

[Nervous1]

Thanks for all your responses!

I got the results of the genetic testing back. They tested 12 mutations most prevelant for Ashkenazi Jews, and all were negative.

In order to get approval for a more complete test I need a recommendation from a genetecist. However, the geneticist claims that the 12 tested 100% rule out CF considering my family background.

Obviously I would be happy to rule out CF, but I would be even happier to get a final diagnosis and treatment that might improve my quality of life. I don't know whether to insist and find some other way to get approval for testing.

Sorry for venting, I'm very frustrated.

 

[Nervous1]

Thanks for all your responses!

I got the results of the genetic testing back. They tested 12 mutations most prevelant for Ashkenazi Jews, and all were negative.

In order to get approval for a more complete test I need a recommendation from a genetecist. However, the geneticist claims that the 12 tested 100% rule out CF considering my family background.

Obviously I would be happy to rule out CF, but I would be even happier to get a final diagnosis and treatment that might improve my quality of life. I don't know whether to insist and find some other way to get approval for testing.

Sorry for venting, I'm very frustrated.

 

[Alyssa]

Yeah, I think you have every right to be frustrated!

I know you are dealing with a different type of health care system than me, so please forgive my ignorance of your system, but is it at all possible for you to see a different doctor? If there is a way to get you into a CF care center, they may be more likely to do full testing or at the very least "treat you AS IF you have CF" that will give you all the benefits of the treatment even if you don't have the official diagnosis.

 

[Alyssa]

Yeah, I think you have every right to be frustrated!

I know you are dealing with a different type of health care system than me, so please forgive my ignorance of your system, but is it at all possible for you to see a different doctor? If there is a way to get you into a CF care center, they may be more likely to do full testing or at the very least "treat you AS IF you have CF" that will give you all the benefits of the treatment even if you don't have the official diagnosis.

 

[Alyssa]

Yeah, I think you have every right to be frustrated!

I know you are dealing with a different type of health care system than me, so please forgive my ignorance of your system, but is it at all possible for you to see a different doctor? If there is a way to get you into a CF care center, they may be more likely to do full testing or at the very least "treat you AS IF you have CF" that will give you all the benefits of the treatment even if you don't have the official diagnosis.

 

[Alyssa]

Yeah, I think you have every right to be frustrated!

I know you are dealing with a different type of health care system than me, so please forgive my ignorance of your system, but is it at all possible for you to see a different doctor? If there is a way to get you into a CF care center, they may be more likely to do full testing or at the very least "treat you AS IF you have CF" that will give you all the benefits of the treatment even if you don't have the official diagnosis.

 

[Alyssa]

Yeah, I think you have every right to be frustrated!

I know you are dealing with a different type of health care system than me, so please forgive my ignorance of your system, but is it at all possible for you to see a different doctor? If there is a way to get you into a CF care center, they may be more likely to do full testing or at the very least "treat you AS IF you have CF" that will give you all the benefits of the treatment even if you don't have the official diagnosis.

 

[Nervous1]

Hi Alyssa,

I'm glad to see you are thinking in the same direction as I am. Yes, I am trying to get a referral to the leading CF center where I am. The first issue I am coming up against is that there is no adult CF center, everyone is handled through a children's unit. My GP is cooperating in that he is willing to give the referral if I can find a doctor there who's title is specific enough to CF, because he can't give me a referral to a pediatrician ... because I'm not a child.

I also posted a question to the Ambry guy on these boards asking for statistics on people with my background for whom they have found 2 rare mutations. Obviously when I explained that Ambry believes I need a full genetic test, the response was "sure they have a huge interest in taking that stand since it increases their business." That is of course true, and quite difficult to argue against. I'm hoping Ambry will be willing to provide the info.

Anyway, thanks again for your support. It makes such a huge difference to be able to discuss this with someone!!!!

 

[Nervous1]

Hi Alyssa,

I'm glad to see you are thinking in the same direction as I am. Yes, I am trying to get a referral to the leading CF center where I am. The first issue I am coming up against is that there is no adult CF center, everyone is handled through a children's unit. My GP is cooperating in that he is willing to give the referral if I can find a doctor there who's title is specific enough to CF, because he can't give me a referral to a pediatrician ... because I'm not a child.

I also posted a question to the Ambry guy on these boards asking for statistics on people with my background for whom they have found 2 rare mutations. Obviously when I explained that Ambry believes I need a full genetic test, the response was "sure they have a huge interest in taking that stand since it increases their business." That is of course true, and quite difficult to argue against. I'm hoping Ambry will be willing to provide the info.

Anyway, thanks again for your support. It makes such a huge difference to be able to discuss this with someone!!!!