Newly Diagnosed as an Adult

N

ngunning

New member
I was wondering if anyone else is in a similar situation:

In 1972, as a child, I tested postive for CF through the sweat test. I had had frequent and serious bouts with pneumonia and bronchitis. But because I managed to live a "normal" childhood, my doctor just assumed the test had been wrong or that in 1972 the sweat test was not sophisticated enough - that through research and time, more conclusive information would come.

Throughout elementary, high school, college, and my twenties, I was an accomplished athlete, particularly in track and field, and so no one suspected that I indeed had CF - - though when I did get sick, it was always pneumonia, post-nasal drip, or bronchitis. In fact, post-nasal drip dogged me always.

However, when I was pregnant with my first child (2001), I tested positive as a carrier for the disease. I explained to my doctors that as a child, I had tested positive for CF via the sweat-test, but was repeatedly told that carriers did not have the disease. Yet, something always made me feel as if perhaps I had a "whiff" of the disease?

Today, I have been fighting pneumonia for 4 months, along with three broken ribs from coughing so much. Now my doctors (internist and pulmonologist) inform me that new CF research concludes that persons who are carriers and test postive via the sweat test can have a different "version" or branch of CF.

Is there anyone else out there in my situation. I'm waiting for extensive blood test results...and it's pretty scary. Any advice or suggestions?

Sincerely,
N. Gunning<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
N

ngunning

New member
I was wondering if anyone else is in a similar situation:

In 1972, as a child, I tested postive for CF through the sweat test. I had had frequent and serious bouts with pneumonia and bronchitis. But because I managed to live a "normal" childhood, my doctor just assumed the test had been wrong or that in 1972 the sweat test was not sophisticated enough - that through research and time, more conclusive information would come.

Throughout elementary, high school, college, and my twenties, I was an accomplished athlete, particularly in track and field, and so no one suspected that I indeed had CF - - though when I did get sick, it was always pneumonia, post-nasal drip, or bronchitis. In fact, post-nasal drip dogged me always.

However, when I was pregnant with my first child (2001), I tested positive as a carrier for the disease. I explained to my doctors that as a child, I had tested positive for CF via the sweat-test, but was repeatedly told that carriers did not have the disease. Yet, something always made me feel as if perhaps I had a "whiff" of the disease?

Today, I have been fighting pneumonia for 4 months, along with three broken ribs from coughing so much. Now my doctors (internist and pulmonologist) inform me that new CF research concludes that persons who are carriers and test postive via the sweat test can have a different "version" or branch of CF.

Is there anyone else out there in my situation. I'm waiting for extensive blood test results...and it's pretty scary. Any advice or suggestions?

Sincerely,
N. Gunning<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
N

ngunning

New member
I was wondering if anyone else is in a similar situation:

In 1972, as a child, I tested postive for CF through the sweat test. I had had frequent and serious bouts with pneumonia and bronchitis. But because I managed to live a "normal" childhood, my doctor just assumed the test had been wrong or that in 1972 the sweat test was not sophisticated enough - that through research and time, more conclusive information would come.

Throughout elementary, high school, college, and my twenties, I was an accomplished athlete, particularly in track and field, and so no one suspected that I indeed had CF - - though when I did get sick, it was always pneumonia, post-nasal drip, or bronchitis. In fact, post-nasal drip dogged me always.

However, when I was pregnant with my first child (2001), I tested positive as a carrier for the disease. I explained to my doctors that as a child, I had tested positive for CF via the sweat-test, but was repeatedly told that carriers did not have the disease. Yet, something always made me feel as if perhaps I had a "whiff" of the disease?

Today, I have been fighting pneumonia for 4 months, along with three broken ribs from coughing so much. Now my doctors (internist and pulmonologist) inform me that new CF research concludes that persons who are carriers and test postive via the sweat test can have a different "version" or branch of CF.

Is there anyone else out there in my situation. I'm waiting for extensive blood test results...and it's pretty scary. Any advice or suggestions?

Sincerely,
N. Gunning<img src="i/expressions/face-icon-small-confused.gif" border="0">
 
T

tammykrumrey

Guest
Well, if you had a positive sweat test, then I would venture to say that you have CF. Have you been genetically tested with the longer version of the test that test for all the known mutations?
And there are some on here who have been told they have CF via a positive sweat test, and only one known CF mutation. There are still some that they have not found. So I would say that maybe you carry an unknown mutation (if they have in fact tested for ALL of the known mutations).
I do understand that you are scared. But there are many on this site who have been in situations such as yours and dx as an adult. Maybe you should also post a questions regarding this on the adult section.
Hang in there! If you do in fact have CF, you can start getting the treatments you need to keep you healthy!
 
T

tammykrumrey

Guest
Well, if you had a positive sweat test, then I would venture to say that you have CF. Have you been genetically tested with the longer version of the test that test for all the known mutations?
And there are some on here who have been told they have CF via a positive sweat test, and only one known CF mutation. There are still some that they have not found. So I would say that maybe you carry an unknown mutation (if they have in fact tested for ALL of the known mutations).
I do understand that you are scared. But there are many on this site who have been in situations such as yours and dx as an adult. Maybe you should also post a questions regarding this on the adult section.
Hang in there! If you do in fact have CF, you can start getting the treatments you need to keep you healthy!
 
T

tammykrumrey

Guest
Well, if you had a positive sweat test, then I would venture to say that you have CF. Have you been genetically tested with the longer version of the test that test for all the known mutations?
And there are some on here who have been told they have CF via a positive sweat test, and only one known CF mutation. There are still some that they have not found. So I would say that maybe you carry an unknown mutation (if they have in fact tested for ALL of the known mutations).
I do understand that you are scared. But there are many on this site who have been in situations such as yours and dx as an adult. Maybe you should also post a questions regarding this on the adult section.
Hang in there! If you do in fact have CF, you can start getting the treatments you need to keep you healthy!
 
N

ngunning

New member
Thank you - I most likely do - because I tested positive for the sweat-test, but am only a carrier. There is so much doctors and researchers are yet to learn about dna, genes, and mutations.

I also have to have my children tested, which is what scares me the most. I thank you for your reply, and I pray for your children!
 
N

ngunning

New member
Thank you - I most likely do - because I tested positive for the sweat-test, but am only a carrier. There is so much doctors and researchers are yet to learn about dna, genes, and mutations.

I also have to have my children tested, which is what scares me the most. I thank you for your reply, and I pray for your children!
 
N

ngunning

New member
Thank you - I most likely do - because I tested positive for the sweat-test, but am only a carrier. There is so much doctors and researchers are yet to learn about dna, genes, and mutations.

I also have to have my children tested, which is what scares me the most. I thank you for your reply, and I pray for your children!
 
M

Momtana

New member
perhaps you are considered a carrier because the genetic test that you were given was the screen for the most common mutations ... there are over 1000. An expanded test would look to see for an additional mutation for CF.
 
M

Momtana

New member
perhaps you are considered a carrier because the genetic test that you were given was the screen for the most common mutations ... there are over 1000. An expanded test would look to see for an additional mutation for CF.
 
M

Momtana

New member
perhaps you are considered a carrier because the genetic test that you were given was the screen for the most common mutations ... there are over 1000. An expanded test would look to see for an additional mutation for CF.
 
C

Chaggie

New member
Unless they did a full panel test there is no way to know if you are only a carrier, it could be that your other mutation hasn't been identified yet.
 
C

Chaggie

New member
Unless they did a full panel test there is no way to know if you are only a carrier, it could be that your other mutation hasn't been identified yet.
 
C

Chaggie

New member
Unless they did a full panel test there is no way to know if you are only a carrier, it could be that your other mutation hasn't been identified yet.
 
J

JustDucky

New member
I agree with Chaggie, it could be that the other mutation hasn't been identified yet. Over the years, over 1300+ mutations have been discovered, with more being discovered currently. So, if it hasn't been done, I agree that the Ambry full genetics panel should be done to see if you have a rare mutation hiding in your CFTR gene. Jenn <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
J

JustDucky

New member
I agree with Chaggie, it could be that the other mutation hasn't been identified yet. Over the years, over 1300+ mutations have been discovered, with more being discovered currently. So, if it hasn't been done, I agree that the Ambry full genetics panel should be done to see if you have a rare mutation hiding in your CFTR gene. Jenn <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
You must log in or register to reply here.
Top