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Just plain confused

K

kathiel

New member
When my daughter was diagnosed with Cf we were told the whole family needed to be tested. I had a positive sweat test, and my genetic work showed R553X as an only mutation found and no second mutation. I was told I had CF and to find me an adult pulmonologist. The adult pulmonologist told me I was crazy and that I had COPD not CF. Now my daughter's doctor is telling me I have CF and referring to an adult CF doctor. As a child I could not gain weight, but now my weight is fine. I was initially diagnosed with asthma as a child then it became reactive airway disease, and then COPD. I am just plain confused. Do I have CF or don't I? How will the final diagnosis be made if my initial test in 2004 only showed one gene? I don't have the time or money to go to a lot of doctors appointments for myself if they are not needed. So what are the chances that I actually have CF and need to go through all of this?
 
K

kathiel

New member
When my daughter was diagnosed with Cf we were told the whole family needed to be tested. I had a positive sweat test, and my genetic work showed R553X as an only mutation found and no second mutation. I was told I had CF and to find me an adult pulmonologist. The adult pulmonologist told me I was crazy and that I had COPD not CF. Now my daughter's doctor is telling me I have CF and referring to an adult CF doctor. As a child I could not gain weight, but now my weight is fine. I was initially diagnosed with asthma as a child then it became reactive airway disease, and then COPD. I am just plain confused. Do I have CF or don't I? How will the final diagnosis be made if my initial test in 2004 only showed one gene? I don't have the time or money to go to a lot of doctors appointments for myself if they are not needed. So what are the chances that I actually have CF and need to go through all of this?
 
K

kathiel

New member
When my daughter was diagnosed with Cf we were told the whole family needed to be tested. I had a positive sweat test, and my genetic work showed R553X as an only mutation found and no second mutation. I was told I had CF and to find me an adult pulmonologist. The adult pulmonologist told me I was crazy and that I had COPD not CF. Now my daughter's doctor is telling me I have CF and referring to an adult CF doctor. As a child I could not gain weight, but now my weight is fine. I was initially diagnosed with asthma as a child then it became reactive airway disease, and then COPD. I am just plain confused. Do I have CF or don't I? How will the final diagnosis be made if my initial test in 2004 only showed one gene? I don't have the time or money to go to a lot of doctors appointments for myself if they are not needed. So what are the chances that I actually have CF and need to go through all of this?
 
K

kathiel

New member
When my daughter was diagnosed with Cf we were told the whole family needed to be tested. I had a positive sweat test, and my genetic work showed R553X as an only mutation found and no second mutation. I was told I had CF and to find me an adult pulmonologist. The adult pulmonologist told me I was crazy and that I had COPD not CF. Now my daughter's doctor is telling me I have CF and referring to an adult CF doctor. As a child I could not gain weight, but now my weight is fine. I was initially diagnosed with asthma as a child then it became reactive airway disease, and then COPD. I am just plain confused. Do I have CF or don't I? How will the final diagnosis be made if my initial test in 2004 only showed one gene? I don't have the time or money to go to a lot of doctors appointments for myself if they are not needed. So what are the chances that I actually have CF and need to go through all of this?
 
K

kathiel

New member
When my daughter was diagnosed with Cf we were told the whole family needed to be tested. I had a positive sweat test, and my genetic work showed R553X as an only mutation found and no second mutation. I was told I had CF and to find me an adult pulmonologist. The adult pulmonologist told me I was crazy and that I had COPD not CF. Now my daughter's doctor is telling me I have CF and referring to an adult CF doctor. As a child I could not gain weight, but now my weight is fine. I was initially diagnosed with asthma as a child then it became reactive airway disease, and then COPD. I am just plain confused. Do I have CF or don't I? How will the final diagnosis be made if my initial test in 2004 only showed one gene? I don't have the time or money to go to a lot of doctors appointments for myself if they are not needed. So what are the chances that I actually have CF and need to go through all of this?
 
N

NoExcuses

New member
There are many different types of genetic tests out there.

What type did you have? Did it check for all known CF mutations?

Before you proceed, I would get an Ambry Amplified genetic test (www.ambry.com) to test for all known CF genes. This will give you a more definitive answer.

How high was your sweat test?

It's totaly possible that you have CF. We have a family in our town where a guy had kids with CF and then later found out that he has CF himself. Totaly possible.
 
N

NoExcuses

New member
There are many different types of genetic tests out there.

What type did you have? Did it check for all known CF mutations?

Before you proceed, I would get an Ambry Amplified genetic test (www.ambry.com) to test for all known CF genes. This will give you a more definitive answer.

How high was your sweat test?

It's totaly possible that you have CF. We have a family in our town where a guy had kids with CF and then later found out that he has CF himself. Totaly possible.
 
N

NoExcuses

New member
There are many different types of genetic tests out there.

What type did you have? Did it check for all known CF mutations?

Before you proceed, I would get an Ambry Amplified genetic test (www.ambry.com) to test for all known CF genes. This will give you a more definitive answer.

How high was your sweat test?

It's totaly possible that you have CF. We have a family in our town where a guy had kids with CF and then later found out that he has CF himself. Totaly possible.
 
N

NoExcuses

New member
There are many different types of genetic tests out there.

What type did you have? Did it check for all known CF mutations?

Before you proceed, I would get an Ambry Amplified genetic test (www.ambry.com) to test for all known CF genes. This will give you a more definitive answer.

How high was your sweat test?

It's totaly possible that you have CF. We have a family in our town where a guy had kids with CF and then later found out that he has CF himself. Totaly possible.
 
N

NoExcuses

New member
There are many different types of genetic tests out there.

What type did you have? Did it check for all known CF mutations?

Before you proceed, I would get an Ambry Amplified genetic test (www.ambry.com) to test for all known CF genes. This will give you a more definitive answer.

How high was your sweat test?

It's totaly possible that you have CF. We have a family in our town where a guy had kids with CF and then later found out that he has CF himself. Totaly possible.
 
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