MY FEV1

Nightwriter

New member
Hi Heather,

I have read some articles that say having even one gene might cause respiratory problems, but I don't think they there is a lot of research on this yet. And then there is always the possiblity, there is a second unidentified gene. This is what happened to me. First lung symptoms at 21, suspected adult onset CF. Normal non-smoker who suddenly had bronchiectesis and pseudomonas was the clue. Years later, I was tested when they only had about 80 genes identified, and they found one gene. It wasn't until this year, when I had the full panel, they found the second.

But whether you have it or not, or whether you are just a carrier with some respiratory problem, it does seem like you have asthma. Asthma can come on very suddenly. With global warming and all of us sharing the same polluted air, asthma cases are being diagnosed in record numbers.

It is also quite likely you've always had asthma or at least for a very long time. You can have asthma and not "feel it." Mainly because it could have been mild. Your lungs may not have been constricted or airways swollen enough for you to notice it. But having a propensity for colds turning into bronchitis sounds like your lungs were hypersensitive at the very least. With 30% FEV1, that is pretty moderate. People usually think asthma means wheezing or attacks. But this is not always so. It ranges from no noticable symptoms, to coughing at certain triggers, and/or wheezing. Sometimes the only way people find out is through PFT tests and then they are shocked at the numbers. Although technique matters, 30% is very very low and technique is not likely to be the cause. And that's why they have you repeat the test 3 times to get a somewhat accurate number.

The good news is Asthma is treatable. But I will pass on something that my doctor told me you should be aware of. Mild asthma can be dangerous if people are not aware of it or are not being treated for it. You can walk by something, eat something and have a full blown asthma attack. My doctor said that in addition to appropriate meds, and environmental changes, patients should always have an emergency bronchodilator with them and to keep an Epi-Pen in the house.

And in the bigger picture, when your asthma becomes well-controlled, the doctor can reduce the medication and sometimes eliminate it as long as the patient is compliant with avoiding triggers. In some cases, it could even be some weird thing that sets you off.

What seems like "sudden" asthma can be from years of being exposed to lots of triggers or it can be triggered by some recent change in your life that is causing inflamation in your lungs (allergy or just irritant) Moving, a new job, a new mattress, something that you might have to do a little detective work to figure out.

If it were me, I'd get tested for allergies. Get an Ige blood test. Ask the doctor for a quick acting bronchodilator and Epi-pen. I then would look around your house or work for any recent changes. And I would allergy-proof my home to start with...
 

Nightwriter

New member
Hi Heather,

I have read some articles that say having even one gene might cause respiratory problems, but I don't think they there is a lot of research on this yet. And then there is always the possiblity, there is a second unidentified gene. This is what happened to me. First lung symptoms at 21, suspected adult onset CF. Normal non-smoker who suddenly had bronchiectesis and pseudomonas was the clue. Years later, I was tested when they only had about 80 genes identified, and they found one gene. It wasn't until this year, when I had the full panel, they found the second.

But whether you have it or not, or whether you are just a carrier with some respiratory problem, it does seem like you have asthma. Asthma can come on very suddenly. With global warming and all of us sharing the same polluted air, asthma cases are being diagnosed in record numbers.

It is also quite likely you've always had asthma or at least for a very long time. You can have asthma and not "feel it." Mainly because it could have been mild. Your lungs may not have been constricted or airways swollen enough for you to notice it. But having a propensity for colds turning into bronchitis sounds like your lungs were hypersensitive at the very least. With 30% FEV1, that is pretty moderate. People usually think asthma means wheezing or attacks. But this is not always so. It ranges from no noticable symptoms, to coughing at certain triggers, and/or wheezing. Sometimes the only way people find out is through PFT tests and then they are shocked at the numbers. Although technique matters, 30% is very very low and technique is not likely to be the cause. And that's why they have you repeat the test 3 times to get a somewhat accurate number.

The good news is Asthma is treatable. But I will pass on something that my doctor told me you should be aware of. Mild asthma can be dangerous if people are not aware of it or are not being treated for it. You can walk by something, eat something and have a full blown asthma attack. My doctor said that in addition to appropriate meds, and environmental changes, patients should always have an emergency bronchodilator with them and to keep an Epi-Pen in the house.

And in the bigger picture, when your asthma becomes well-controlled, the doctor can reduce the medication and sometimes eliminate it as long as the patient is compliant with avoiding triggers. In some cases, it could even be some weird thing that sets you off.

What seems like "sudden" asthma can be from years of being exposed to lots of triggers or it can be triggered by some recent change in your life that is causing inflamation in your lungs (allergy or just irritant) Moving, a new job, a new mattress, something that you might have to do a little detective work to figure out.

If it were me, I'd get tested for allergies. Get an Ige blood test. Ask the doctor for a quick acting bronchodilator and Epi-pen. I then would look around your house or work for any recent changes. And I would allergy-proof my home to start with...
 

Nightwriter

New member
Hi Heather,

I have read some articles that say having even one gene might cause respiratory problems, but I don't think they there is a lot of research on this yet. And then there is always the possiblity, there is a second unidentified gene. This is what happened to me. First lung symptoms at 21, suspected adult onset CF. Normal non-smoker who suddenly had bronchiectesis and pseudomonas was the clue. Years later, I was tested when they only had about 80 genes identified, and they found one gene. It wasn't until this year, when I had the full panel, they found the second.

But whether you have it or not, or whether you are just a carrier with some respiratory problem, it does seem like you have asthma. Asthma can come on very suddenly. With global warming and all of us sharing the same polluted air, asthma cases are being diagnosed in record numbers.

It is also quite likely you've always had asthma or at least for a very long time. You can have asthma and not "feel it." Mainly because it could have been mild. Your lungs may not have been constricted or airways swollen enough for you to notice it. But having a propensity for colds turning into bronchitis sounds like your lungs were hypersensitive at the very least. With 30% FEV1, that is pretty moderate. People usually think asthma means wheezing or attacks. But this is not always so. It ranges from no noticable symptoms, to coughing at certain triggers, and/or wheezing. Sometimes the only way people find out is through PFT tests and then they are shocked at the numbers. Although technique matters, 30% is very very low and technique is not likely to be the cause. And that's why they have you repeat the test 3 times to get a somewhat accurate number.

The good news is Asthma is treatable. But I will pass on something that my doctor told me you should be aware of. Mild asthma can be dangerous if people are not aware of it or are not being treated for it. You can walk by something, eat something and have a full blown asthma attack. My doctor said that in addition to appropriate meds, and environmental changes, patients should always have an emergency bronchodilator with them and to keep an Epi-Pen in the house.

And in the bigger picture, when your asthma becomes well-controlled, the doctor can reduce the medication and sometimes eliminate it as long as the patient is compliant with avoiding triggers. In some cases, it could even be some weird thing that sets you off.

What seems like "sudden" asthma can be from years of being exposed to lots of triggers or it can be triggered by some recent change in your life that is causing inflamation in your lungs (allergy or just irritant) Moving, a new job, a new mattress, something that you might have to do a little detective work to figure out.

If it were me, I'd get tested for allergies. Get an Ige blood test. Ask the doctor for a quick acting bronchodilator and Epi-pen. I then would look around your house or work for any recent changes. And I would allergy-proof my home to start with...
 

Nightwriter

New member
Hi Heather,

I have read some articles that say having even one gene might cause respiratory problems, but I don't think they there is a lot of research on this yet. And then there is always the possiblity, there is a second unidentified gene. This is what happened to me. First lung symptoms at 21, suspected adult onset CF. Normal non-smoker who suddenly had bronchiectesis and pseudomonas was the clue. Years later, I was tested when they only had about 80 genes identified, and they found one gene. It wasn't until this year, when I had the full panel, they found the second.

But whether you have it or not, or whether you are just a carrier with some respiratory problem, it does seem like you have asthma. Asthma can come on very suddenly. With global warming and all of us sharing the same polluted air, asthma cases are being diagnosed in record numbers.

It is also quite likely you've always had asthma or at least for a very long time. You can have asthma and not "feel it." Mainly because it could have been mild. Your lungs may not have been constricted or airways swollen enough for you to notice it. But having a propensity for colds turning into bronchitis sounds like your lungs were hypersensitive at the very least. With 30% FEV1, that is pretty moderate. People usually think asthma means wheezing or attacks. But this is not always so. It ranges from no noticable symptoms, to coughing at certain triggers, and/or wheezing. Sometimes the only way people find out is through PFT tests and then they are shocked at the numbers. Although technique matters, 30% is very very low and technique is not likely to be the cause. And that's why they have you repeat the test 3 times to get a somewhat accurate number.

The good news is Asthma is treatable. But I will pass on something that my doctor told me you should be aware of. Mild asthma can be dangerous if people are not aware of it or are not being treated for it. You can walk by something, eat something and have a full blown asthma attack. My doctor said that in addition to appropriate meds, and environmental changes, patients should always have an emergency bronchodilator with them and to keep an Epi-Pen in the house.

And in the bigger picture, when your asthma becomes well-controlled, the doctor can reduce the medication and sometimes eliminate it as long as the patient is compliant with avoiding triggers. In some cases, it could even be some weird thing that sets you off.

What seems like "sudden" asthma can be from years of being exposed to lots of triggers or it can be triggered by some recent change in your life that is causing inflamation in your lungs (allergy or just irritant) Moving, a new job, a new mattress, something that you might have to do a little detective work to figure out.

If it were me, I'd get tested for allergies. Get an Ige blood test. Ask the doctor for a quick acting bronchodilator and Epi-pen. I then would look around your house or work for any recent changes. And I would allergy-proof my home to start with...
 

Nightwriter

New member
Hi Heather,
<br />
<br />I have read some articles that say having even one gene might cause respiratory problems, but I don't think they there is a lot of research on this yet. And then there is always the possiblity, there is a second unidentified gene. This is what happened to me. First lung symptoms at 21, suspected adult onset CF. Normal non-smoker who suddenly had bronchiectesis and pseudomonas was the clue. Years later, I was tested when they only had about 80 genes identified, and they found one gene. It wasn't until this year, when I had the full panel, they found the second.
<br />
<br />But whether you have it or not, or whether you are just a carrier with some respiratory problem, it does seem like you have asthma. Asthma can come on very suddenly. With global warming and all of us sharing the same polluted air, asthma cases are being diagnosed in record numbers.
<br />
<br />It is also quite likely you've always had asthma or at least for a very long time. You can have asthma and not "feel it." Mainly because it could have been mild. Your lungs may not have been constricted or airways swollen enough for you to notice it. But having a propensity for colds turning into bronchitis sounds like your lungs were hypersensitive at the very least. With 30% FEV1, that is pretty moderate. People usually think asthma means wheezing or attacks. But this is not always so. It ranges from no noticable symptoms, to coughing at certain triggers, and/or wheezing. Sometimes the only way people find out is through PFT tests and then they are shocked at the numbers. Although technique matters, 30% is very very low and technique is not likely to be the cause. And that's why they have you repeat the test 3 times to get a somewhat accurate number.
<br />
<br />The good news is Asthma is treatable. But I will pass on something that my doctor told me you should be aware of. Mild asthma can be dangerous if people are not aware of it or are not being treated for it. You can walk by something, eat something and have a full blown asthma attack. My doctor said that in addition to appropriate meds, and environmental changes, patients should always have an emergency bronchodilator with them and to keep an Epi-Pen in the house.
<br />
<br />And in the bigger picture, when your asthma becomes well-controlled, the doctor can reduce the medication and sometimes eliminate it as long as the patient is compliant with avoiding triggers. In some cases, it could even be some weird thing that sets you off.
<br />
<br />What seems like "sudden" asthma can be from years of being exposed to lots of triggers or it can be triggered by some recent change in your life that is causing inflamation in your lungs (allergy or just irritant) Moving, a new job, a new mattress, something that you might have to do a little detective work to figure out.
<br />
<br />If it were me, I'd get tested for allergies. Get an Ige blood test. Ask the doctor for a quick acting bronchodilator and Epi-pen. I then would look around your house or work for any recent changes. And I would allergy-proof my home to start with...
<br />
<br />
 

concernedmom

New member
Heather,
I'm more of a lurker than a poster but I had to comment on this. 30% FEV1 is VERY low. Especially for someone who is *suppose* to be a healthy adult. I've been dealing with asthma long before CF and am now also dealing with COPD w/my dad (multi-cause-asthma, TB, occupational, and smoked for 18 yrs-quit when I was a kid). Anyway, 30% FEV1 in asthma, COPD, and CF is considered very low - severe for all 3.
<hr>
I have a couple questions:
(1) where was the testing performed? In the doctor's office or at the hospital in their big booth?
(2) did they give you a treatment of albuterol and retest to see if it was reversible (means you have an improvement of at least 12% post-bronchodilator).
(3) when do they plan to retest?
<hr>
Honestly, your doctor's attitude is baffling to me. With that low of an FEV1, IMHO, your doctor should be running tests and cultures to figure why you're FEV1 is so low. AT LEAST try a taper of prednisone!
<hr>
If I were you, I would call your dd's CF clinic and explain the situation. See if they still think it's unlikely you have CF.

I think I'd also ask for a referral to a pulminologist just to recheck your numbers and see if there's anything your doctor's missing.

JMHO.
 

concernedmom

New member
Heather,
I'm more of a lurker than a poster but I had to comment on this. 30% FEV1 is VERY low. Especially for someone who is *suppose* to be a healthy adult. I've been dealing with asthma long before CF and am now also dealing with COPD w/my dad (multi-cause-asthma, TB, occupational, and smoked for 18 yrs-quit when I was a kid). Anyway, 30% FEV1 in asthma, COPD, and CF is considered very low - severe for all 3.
<hr>
I have a couple questions:
(1) where was the testing performed? In the doctor's office or at the hospital in their big booth?
(2) did they give you a treatment of albuterol and retest to see if it was reversible (means you have an improvement of at least 12% post-bronchodilator).
(3) when do they plan to retest?
<hr>
Honestly, your doctor's attitude is baffling to me. With that low of an FEV1, IMHO, your doctor should be running tests and cultures to figure why you're FEV1 is so low. AT LEAST try a taper of prednisone!
<hr>
If I were you, I would call your dd's CF clinic and explain the situation. See if they still think it's unlikely you have CF.

I think I'd also ask for a referral to a pulminologist just to recheck your numbers and see if there's anything your doctor's missing.

JMHO.
 

concernedmom

New member
Heather,
I'm more of a lurker than a poster but I had to comment on this. 30% FEV1 is VERY low. Especially for someone who is *suppose* to be a healthy adult. I've been dealing with asthma long before CF and am now also dealing with COPD w/my dad (multi-cause-asthma, TB, occupational, and smoked for 18 yrs-quit when I was a kid). Anyway, 30% FEV1 in asthma, COPD, and CF is considered very low - severe for all 3.
<hr>
I have a couple questions:
(1) where was the testing performed? In the doctor's office or at the hospital in their big booth?
(2) did they give you a treatment of albuterol and retest to see if it was reversible (means you have an improvement of at least 12% post-bronchodilator).
(3) when do they plan to retest?
<hr>
Honestly, your doctor's attitude is baffling to me. With that low of an FEV1, IMHO, your doctor should be running tests and cultures to figure why you're FEV1 is so low. AT LEAST try a taper of prednisone!
<hr>
If I were you, I would call your dd's CF clinic and explain the situation. See if they still think it's unlikely you have CF.

I think I'd also ask for a referral to a pulminologist just to recheck your numbers and see if there's anything your doctor's missing.

JMHO.
 

concernedmom

New member
Heather,
I'm more of a lurker than a poster but I had to comment on this. 30% FEV1 is VERY low. Especially for someone who is *suppose* to be a healthy adult. I've been dealing with asthma long before CF and am now also dealing with COPD w/my dad (multi-cause-asthma, TB, occupational, and smoked for 18 yrs-quit when I was a kid). Anyway, 30% FEV1 in asthma, COPD, and CF is considered very low - severe for all 3.
<hr>
I have a couple questions:
(1) where was the testing performed? In the doctor's office or at the hospital in their big booth?
(2) did they give you a treatment of albuterol and retest to see if it was reversible (means you have an improvement of at least 12% post-bronchodilator).
(3) when do they plan to retest?
<hr>
Honestly, your doctor's attitude is baffling to me. With that low of an FEV1, IMHO, your doctor should be running tests and cultures to figure why you're FEV1 is so low. AT LEAST try a taper of prednisone!
<hr>
If I were you, I would call your dd's CF clinic and explain the situation. See if they still think it's unlikely you have CF.

I think I'd also ask for a referral to a pulminologist just to recheck your numbers and see if there's anything your doctor's missing.

JMHO.
 

concernedmom

New member
Heather,
I'm more of a lurker than a poster but I had to comment on this. 30% FEV1 is VERY low. Especially for someone who is *suppose* to be a healthy adult. I've been dealing with asthma long before CF and am now also dealing with COPD w/my dad (multi-cause-asthma, TB, occupational, and smoked for 18 yrs-quit when I was a kid). Anyway, 30% FEV1 in asthma, COPD, and CF is considered very low - severe for all 3.
<hr>
I have a couple questions:
(1) where was the testing performed? In the doctor's office or at the hospital in their big booth?
(2) did they give you a treatment of albuterol and retest to see if it was reversible (means you have an improvement of at least 12% post-bronchodilator).
(3) when do they plan to retest?
<hr>
Honestly, your doctor's attitude is baffling to me. With that low of an FEV1, IMHO, your doctor should be running tests and cultures to figure why you're FEV1 is so low. AT LEAST try a taper of prednisone!
<hr>
If I were you, I would call your dd's CF clinic and explain the situation. See if they still think it's unlikely you have CF.

I think I'd also ask for a referral to a pulminologist just to recheck your numbers and see if there's anything your doctor's missing.

JMHO.
 
M

Mommafirst

Guest
Thanks for all the great information.

Concernedmom . . . They used a handheld digital spirometer, and I'm not convinced that it was an accurate read at all. While I'm definitely short of breath lately, I don't feel THAT awful.

My doctor did not do an albutuerol and then re-test. I read about this when I got home and wondered why she didn't.

My doctor wants to see me in three weeks. But if I don't see improvement in a week, I'll definitely call.

I did do a taper of prednisone back in April when this first started and didn't really see a big difference. I appreciate your comments and I'm definitely going to follow up.
 
M

Mommafirst

Guest
Thanks for all the great information.

Concernedmom . . . They used a handheld digital spirometer, and I'm not convinced that it was an accurate read at all. While I'm definitely short of breath lately, I don't feel THAT awful.

My doctor did not do an albutuerol and then re-test. I read about this when I got home and wondered why she didn't.

My doctor wants to see me in three weeks. But if I don't see improvement in a week, I'll definitely call.

I did do a taper of prednisone back in April when this first started and didn't really see a big difference. I appreciate your comments and I'm definitely going to follow up.
 
M

Mommafirst

Guest
Thanks for all the great information.

Concernedmom . . . They used a handheld digital spirometer, and I'm not convinced that it was an accurate read at all. While I'm definitely short of breath lately, I don't feel THAT awful.

My doctor did not do an albutuerol and then re-test. I read about this when I got home and wondered why she didn't.

My doctor wants to see me in three weeks. But if I don't see improvement in a week, I'll definitely call.

I did do a taper of prednisone back in April when this first started and didn't really see a big difference. I appreciate your comments and I'm definitely going to follow up.
 
M

Mommafirst

Guest
Thanks for all the great information.

Concernedmom . . . They used a handheld digital spirometer, and I'm not convinced that it was an accurate read at all. While I'm definitely short of breath lately, I don't feel THAT awful.

My doctor did not do an albutuerol and then re-test. I read about this when I got home and wondered why she didn't.

My doctor wants to see me in three weeks. But if I don't see improvement in a week, I'll definitely call.

I did do a taper of prednisone back in April when this first started and didn't really see a big difference. I appreciate your comments and I'm definitely going to follow up.
 
M

Mommafirst

Guest
Thanks for all the great information.
<br />
<br />Concernedmom . . . They used a handheld digital spirometer, and I'm not convinced that it was an accurate read at all. While I'm definitely short of breath lately, I don't feel THAT awful.
<br />
<br />My doctor did not do an albutuerol and then re-test. I read about this when I got home and wondered why she didn't.
<br />
<br />My doctor wants to see me in three weeks. But if I don't see improvement in a week, I'll definitely call.
<br />
<br />I did do a taper of prednisone back in April when this first started and didn't really see a big difference. I appreciate your comments and I'm definitely going to follow up.
 

Juliet

New member
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.

I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".

There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet
 

Juliet

New member
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.

I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".

There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet
 

Juliet

New member
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.

I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".

There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet
 

Juliet

New member
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.

I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".

There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet
 

Juliet

New member
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.
<br />
<br />I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".
<br />
<br />There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet
 
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