Rectal biopsy for CF??? Never heard of this

[spacemom]

Not sure if it's OK to post this here... kind of hurried... long story short, my son has an inconclusive diagnosis of CF... being treated for 1 1/2 year,...

Today the doctor called and told him to go to the hospital Wedenesday to have a rectal biopsy for CF. I've read so much about cystic fibrosis and never heard of a rectum biopsy to confirm CF diagnosis..?? Totally baffled. I didn't speak with the doctor myself, it was my son. BTW he's 20.


Anyone heard of this?

 

[spacemom]

Not sure if it's OK to post this here... kind of hurried... long story short, my son has an inconclusive diagnosis of CF... being treated for 1 1/2 year,...

Today the doctor called and told him to go to the hospital Wedenesday to have a rectal biopsy for CF. I've read so much about cystic fibrosis and never heard of a rectum biopsy to confirm CF diagnosis..?? Totally baffled. I didn't speak with the doctor myself, it was my son. BTW he's 20.


Anyone heard of this?

 

[spacemom]

Not sure if it's OK to post this here... kind of hurried... long story short, my son has an inconclusive diagnosis of CF... being treated for 1 1/2 year,...

Today the doctor called and told him to go to the hospital Wedenesday to have a rectal biopsy for CF. I've read so much about cystic fibrosis and never heard of a rectum biopsy to confirm CF diagnosis..?? Totally baffled. I didn't speak with the doctor myself, it was my son. BTW he's 20.


Anyone heard of this?

 

[spacemom]

Not sure if it's OK to post this here... kind of hurried... long story short, my son has an inconclusive diagnosis of CF... being treated for 1 1/2 year,...

Today the doctor called and told him to go to the hospital Wedenesday to have a rectal biopsy for CF. I've read so much about cystic fibrosis and never heard of a rectum biopsy to confirm CF diagnosis..?? Totally baffled. I didn't speak with the doctor myself, it was my son. BTW he's 20.


Anyone heard of this?

 

[spacemom]

Not sure if it's OK to post this here... kind of hurried... long story short, my son has an inconclusive diagnosis of CF... being treated for 1 1/2 year,...

Today the doctor called and told him to go to the hospital Wedenesday to have a rectal biopsy for CF. I've read so much about cystic fibrosis and never heard of a rectum biopsy to confirm CF diagnosis..?? Totally baffled. I didn't speak with the doctor myself, it was my son. BTW he's 20.


Anyone heard of this?

 

[spacemom]

Not sure if it's OK to post this here... kind of hurried... long story short, my son has an inconclusive diagnosis of CF... being treated for 1 1/2 year,...

Today the doctor called and told him to go to the hospital Wedenesday to have a rectal biopsy for CF. I've read so much about cystic fibrosis and never heard of a rectum biopsy to confirm CF diagnosis..?? Totally baffled. I didn't speak with the doctor myself, it was my son. BTW he's 20.


Anyone heard of this?

 

[NoExcuses]

Nope. never heard of it <img src="i/expressions/face-icon-small-sad.gif" border="0"> Sorry

Have you had a Full Panel CF genetic test (to test for all known CF mutations)?

 

[NoExcuses]

Nope. never heard of it <img src="i/expressions/face-icon-small-sad.gif" border="0"> Sorry

Have you had a Full Panel CF genetic test (to test for all known CF mutations)?

 

[NoExcuses]

Nope. never heard of it <img src="i/expressions/face-icon-small-sad.gif" border="0"> Sorry

Have you had a Full Panel CF genetic test (to test for all known CF mutations)?

 

[NoExcuses]

Nope. never heard of it <img src="i/expressions/face-icon-small-sad.gif" border="0"> Sorry

Have you had a Full Panel CF genetic test (to test for all known CF mutations)?

 

[NoExcuses]

Nope. never heard of it <img src="i/expressions/face-icon-small-sad.gif" border="0"> Sorry

Have you had a Full Panel CF genetic test (to test for all known CF mutations)?

 

[NoExcuses]

Nope. never heard of it <img src="i/expressions/face-icon-small-sad.gif" border="0"> Sorry

Have you had a Full Panel CF genetic test (to test for all known CF mutations)?

 

[Alyssa]

Sure it's ok to post here -- if you don't get a lot of responses, you might want to try posting in the adult section too.

I've never heard of a rectum biopsy to confirm CF. I have heard of a nasal differential test when trying to confirm diagnosis -- but that is an entirely different kind of thing. Have also heard of doing a colonoscopy to rule out Celiac Disease but not to confirm CF. Is it possible he was told to give a stool sample? That would be quite common -- a fecal fat test. That would let them know if he is pancreatic sufficient or not.

What are the symptoms your son has and what treatments has he been doing for the past 1 1/2 years? Has he had full genetic testing? Why is his diagnosis considered inconclusive?

 

[Alyssa]

Sure it's ok to post here -- if you don't get a lot of responses, you might want to try posting in the adult section too.

I've never heard of a rectum biopsy to confirm CF. I have heard of a nasal differential test when trying to confirm diagnosis -- but that is an entirely different kind of thing. Have also heard of doing a colonoscopy to rule out Celiac Disease but not to confirm CF. Is it possible he was told to give a stool sample? That would be quite common -- a fecal fat test. That would let them know if he is pancreatic sufficient or not.

What are the symptoms your son has and what treatments has he been doing for the past 1 1/2 years? Has he had full genetic testing? Why is his diagnosis considered inconclusive?

 

[Alyssa]

Sure it's ok to post here -- if you don't get a lot of responses, you might want to try posting in the adult section too.

I've never heard of a rectum biopsy to confirm CF. I have heard of a nasal differential test when trying to confirm diagnosis -- but that is an entirely different kind of thing. Have also heard of doing a colonoscopy to rule out Celiac Disease but not to confirm CF. Is it possible he was told to give a stool sample? That would be quite common -- a fecal fat test. That would let them know if he is pancreatic sufficient or not.

What are the symptoms your son has and what treatments has he been doing for the past 1 1/2 years? Has he had full genetic testing? Why is his diagnosis considered inconclusive?

 

[Alyssa]

Sure it's ok to post here -- if you don't get a lot of responses, you might want to try posting in the adult section too.

I've never heard of a rectum biopsy to confirm CF. I have heard of a nasal differential test when trying to confirm diagnosis -- but that is an entirely different kind of thing. Have also heard of doing a colonoscopy to rule out Celiac Disease but not to confirm CF. Is it possible he was told to give a stool sample? That would be quite common -- a fecal fat test. That would let them know if he is pancreatic sufficient or not.

What are the symptoms your son has and what treatments has he been doing for the past 1 1/2 years? Has he had full genetic testing? Why is his diagnosis considered inconclusive?

 

[Alyssa]

Sure it's ok to post here -- if you don't get a lot of responses, you might want to try posting in the adult section too.

I've never heard of a rectum biopsy to confirm CF. I have heard of a nasal differential test when trying to confirm diagnosis -- but that is an entirely different kind of thing. Have also heard of doing a colonoscopy to rule out Celiac Disease but not to confirm CF. Is it possible he was told to give a stool sample? That would be quite common -- a fecal fat test. That would let them know if he is pancreatic sufficient or not.

What are the symptoms your son has and what treatments has he been doing for the past 1 1/2 years? Has he had full genetic testing? Why is his diagnosis considered inconclusive?

 

[Alyssa]

Sure it's ok to post here -- if you don't get a lot of responses, you might want to try posting in the adult section too.

I've never heard of a rectum biopsy to confirm CF. I have heard of a nasal differential test when trying to confirm diagnosis -- but that is an entirely different kind of thing. Have also heard of doing a colonoscopy to rule out Celiac Disease but not to confirm CF. Is it possible he was told to give a stool sample? That would be quite common -- a fecal fat test. That would let them know if he is pancreatic sufficient or not.

What are the symptoms your son has and what treatments has he been doing for the past 1 1/2 years? Has he had full genetic testing? Why is his diagnosis considered inconclusive?

 

[spacemom]

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.

 

[spacemom]

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.