Rectal biopsy for CF??? Never heard of this

S

spacemom

New member
Well, I live in Europe and the testing here only looks for the 100 or so mutations that answer for 99% of the CF cases in thie country. He had none of those.
Sweat tests are borderline (50).
Every 2, 3 months he has a sputum check. Pseudomonas all the time.
His only visible symptom is cough.
Was checked for everything else, in blood urine and feces, and negative.
His cough started at around 16 yo, stupid GP took 2 years prescribing cough medications. It was my own initiative finding a specialist.
Oh and he has oligospermia (fewer sperms than normal).

Every time he coughs my heart breaks. No history of CF in the family.

He does the TOBI every other month, and takes bronchodilatores daily, and everynow and then a course of antibiotics.

Thanks for your input.
 
S

spacemom

New member
Well, I live in Europe and the testing here only looks for the 100 or so mutations that answer for 99% of the CF cases in thie country. He had none of those.
Sweat tests are borderline (50).
Every 2, 3 months he has a sputum check. Pseudomonas all the time.
His only visible symptom is cough.
Was checked for everything else, in blood urine and feces, and negative.
His cough started at around 16 yo, stupid GP took 2 years prescribing cough medications. It was my own initiative finding a specialist.
Oh and he has oligospermia (fewer sperms than normal).

Every time he coughs my heart breaks. No history of CF in the family.

He does the TOBI every other month, and takes bronchodilatores daily, and everynow and then a course of antibiotics.

Thanks for your input.
 
S

spacemom

New member
Well, I live in Europe and the testing here only looks for the 100 or so mutations that answer for 99% of the CF cases in thie country. He had none of those.
Sweat tests are borderline (50).
Every 2, 3 months he has a sputum check. Pseudomonas all the time.
His only visible symptom is cough.
Was checked for everything else, in blood urine and feces, and negative.
His cough started at around 16 yo, stupid GP took 2 years prescribing cough medications. It was my own initiative finding a specialist.
Oh and he has oligospermia (fewer sperms than normal).

Every time he coughs my heart breaks. No history of CF in the family.

He does the TOBI every other month, and takes bronchodilatores daily, and everynow and then a course of antibiotics.

Thanks for your input.
 
S

spacemom

New member
Well, I live in Europe and the testing here only looks for the 100 or so mutations that answer for 99% of the CF cases in thie country. He had none of those.
Sweat tests are borderline (50).
Every 2, 3 months he has a sputum check. Pseudomonas all the time.
His only visible symptom is cough.
Was checked for everything else, in blood urine and feces, and negative.
His cough started at around 16 yo, stupid GP took 2 years prescribing cough medications. It was my own initiative finding a specialist.
Oh and he has oligospermia (fewer sperms than normal).

Every time he coughs my heart breaks. No history of CF in the family.

He does the TOBI every other month, and takes bronchodilatores daily, and everynow and then a course of antibiotics.

Thanks for your input.
 
S

spacemom

New member
Alyssa just saw your post

One of your kids is same age as mine, my heart goes out to you and everybody else with this stupid disease


He's had fecal tests before. i should have spoken with the doc. myself, he's very absent minded and might have reported the wrong word... Anyway I'll go with him on Wednesday.


I'll check your blog when I have a little time. Thank you <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

spacemom

New member
Alyssa just saw your post

One of your kids is same age as mine, my heart goes out to you and everybody else with this stupid disease


He's had fecal tests before. i should have spoken with the doc. myself, he's very absent minded and might have reported the wrong word... Anyway I'll go with him on Wednesday.


I'll check your blog when I have a little time. Thank you <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

spacemom

New member
Alyssa just saw your post

One of your kids is same age as mine, my heart goes out to you and everybody else with this stupid disease


He's had fecal tests before. i should have spoken with the doc. myself, he's very absent minded and might have reported the wrong word... Anyway I'll go with him on Wednesday.


I'll check your blog when I have a little time. Thank you <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

spacemom

New member
Alyssa just saw your post

One of your kids is same age as mine, my heart goes out to you and everybody else with this stupid disease


He's had fecal tests before. i should have spoken with the doc. myself, he's very absent minded and might have reported the wrong word... Anyway I'll go with him on Wednesday.


I'll check your blog when I have a little time. Thank you <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

spacemom

New member
Alyssa just saw your post

One of your kids is same age as mine, my heart goes out to you and everybody else with this stupid disease


He's had fecal tests before. i should have spoken with the doc. myself, he's very absent minded and might have reported the wrong word... Anyway I'll go with him on Wednesday.


I'll check your blog when I have a little time. Thank you <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

spacemom

New member
Alyssa just saw your post

One of your kids is same age as mine, my heart goes out to you and everybody else with this stupid disease


He's had fecal tests before. i should have spoken with the doc. myself, he's very absent minded and might have reported the wrong word... Anyway I'll go with him on Wednesday.


I'll check your blog when I have a little time. Thank you <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

Alyssa

New member
Sounds to me like he definitely has CF -- as far as I'm concerned the sweat test numbers should be lowered, so many people with sweat test numbers in the borderline and normal range have confirmed genetic tests that show two CF genes. If they only looked for 100 genes, there are over 1400 more they didn't look for, chances are he has two of the 1400 they didn't see !

He certainly has many of the classic signs/symptoms of CF. But is sounds like he is benefiting from being treated "as CF" so that's the important thing.

Would the doctor discuss more about this test with you over the phone? Ask what it is they would find in a biopsy that would confirm CF.
 
A

Alyssa

New member
Sounds to me like he definitely has CF -- as far as I'm concerned the sweat test numbers should be lowered, so many people with sweat test numbers in the borderline and normal range have confirmed genetic tests that show two CF genes. If they only looked for 100 genes, there are over 1400 more they didn't look for, chances are he has two of the 1400 they didn't see !

He certainly has many of the classic signs/symptoms of CF. But is sounds like he is benefiting from being treated "as CF" so that's the important thing.

Would the doctor discuss more about this test with you over the phone? Ask what it is they would find in a biopsy that would confirm CF.
 
A

Alyssa

New member
Sounds to me like he definitely has CF -- as far as I'm concerned the sweat test numbers should be lowered, so many people with sweat test numbers in the borderline and normal range have confirmed genetic tests that show two CF genes. If they only looked for 100 genes, there are over 1400 more they didn't look for, chances are he has two of the 1400 they didn't see !

He certainly has many of the classic signs/symptoms of CF. But is sounds like he is benefiting from being treated "as CF" so that's the important thing.

Would the doctor discuss more about this test with you over the phone? Ask what it is they would find in a biopsy that would confirm CF.
 
A

Alyssa

New member
Sounds to me like he definitely has CF -- as far as I'm concerned the sweat test numbers should be lowered, so many people with sweat test numbers in the borderline and normal range have confirmed genetic tests that show two CF genes. If they only looked for 100 genes, there are over 1400 more they didn't look for, chances are he has two of the 1400 they didn't see !

He certainly has many of the classic signs/symptoms of CF. But is sounds like he is benefiting from being treated "as CF" so that's the important thing.

Would the doctor discuss more about this test with you over the phone? Ask what it is they would find in a biopsy that would confirm CF.
 
A

Alyssa

New member
Sounds to me like he definitely has CF -- as far as I'm concerned the sweat test numbers should be lowered, so many people with sweat test numbers in the borderline and normal range have confirmed genetic tests that show two CF genes. If they only looked for 100 genes, there are over 1400 more they didn't look for, chances are he has two of the 1400 they didn't see !

He certainly has many of the classic signs/symptoms of CF. But is sounds like he is benefiting from being treated "as CF" so that's the important thing.

Would the doctor discuss more about this test with you over the phone? Ask what it is they would find in a biopsy that would confirm CF.
 
A

Alyssa

New member
Sounds to me like he definitely has CF -- as far as I'm concerned the sweat test numbers should be lowered, so many people with sweat test numbers in the borderline and normal range have confirmed genetic tests that show two CF genes. If they only looked for 100 genes, there are over 1400 more they didn't look for, chances are he has two of the 1400 they didn't see !

He certainly has many of the classic signs/symptoms of CF. But is sounds like he is benefiting from being treated "as CF" so that's the important thing.

Would the doctor discuss more about this test with you over the phone? Ask what it is they would find in a biopsy that would confirm CF.
 
N

NoExcuses

New member
That's too bad that they only test for 100 genes....

It's extremely rare for someone to have PA in their sputum and not be extremely immuno-compromised or most likely, CF.

Is there any way you can get a more broad genetic test or does socialized medicine not allow that?

I hope you get an answer soon.....
 
N

NoExcuses

New member
That's too bad that they only test for 100 genes....

It's extremely rare for someone to have PA in their sputum and not be extremely immuno-compromised or most likely, CF.

Is there any way you can get a more broad genetic test or does socialized medicine not allow that?

I hope you get an answer soon.....
 
N

NoExcuses

New member
That's too bad that they only test for 100 genes....

It's extremely rare for someone to have PA in their sputum and not be extremely immuno-compromised or most likely, CF.

Is there any way you can get a more broad genetic test or does socialized medicine not allow that?

I hope you get an answer soon.....
 
N

NoExcuses

New member
That's too bad that they only test for 100 genes....

It's extremely rare for someone to have PA in their sputum and not be extremely immuno-compromised or most likely, CF.

Is there any way you can get a more broad genetic test or does socialized medicine not allow that?

I hope you get an answer soon.....
 
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