Rectal biopsy for CF??? Never heard of this

[JazzysMom]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>spacemom</b></i>


Another thing that bugs me, and I don't want to tell this to my DS is, even having a "mild" mutation will he have a "normal" life? How's he going to have a girlfriend/wife if he's coughing all the time and who will want to have his kids knowing the disease he has? </end quote>

Yes he can have a "normal" life. Many of us have graduated high school, gone to or are currently attending college, got married and have children. Just like anyone else in life.....we have obstacles & we have to weed out the ones that cant handle CF, but for the most part (there are always exceptions since some of us have been divorced) we find great partners in life.

For the record my husband has some "gross" habits similar to that of a CFer so the coughing, spitting out sputum etc isnt just a CF thing. IF you get it in YOUR mind that he cant have these things then indirectly you will influence him & he might not strive for it.

I feel its a greater shame that he not strive for things then to strive & not reach them all because he will never know unless he tries. That goes for ANYONE in life.

BTW I hadnt heard of rectal biopsy at a form of dx for CF & I also dont have any KNOWN CF in my family.

 

[JazzysMom]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>spacemom</b></i>


Another thing that bugs me, and I don't want to tell this to my DS is, even having a "mild" mutation will he have a "normal" life? How's he going to have a girlfriend/wife if he's coughing all the time and who will want to have his kids knowing the disease he has? </end quote>

Yes he can have a "normal" life. Many of us have graduated high school, gone to or are currently attending college, got married and have children. Just like anyone else in life.....we have obstacles & we have to weed out the ones that cant handle CF, but for the most part (there are always exceptions since some of us have been divorced) we find great partners in life.

For the record my husband has some "gross" habits similar to that of a CFer so the coughing, spitting out sputum etc isnt just a CF thing. IF you get it in YOUR mind that he cant have these things then indirectly you will influence him & he might not strive for it.

I feel its a greater shame that he not strive for things then to strive & not reach them all because he will never know unless he tries. That goes for ANYONE in life.

BTW I hadnt heard of rectal biopsy at a form of dx for CF & I also dont have any KNOWN CF in my family.

 

[Alyssa]

Yes, you understand correctly -- having mild mutations is sometimes a blessing but not a guarantee.

I understand your questions about "normal" life and girl friend/marrage/kids etc -- but you know what? .... I think you already consider him to have a normal life (in that you have taken his health issues in stride and gotten the best care possible and moved on with how life is for him - this is his life) Like Melissa said many things are possible - try not to limit his opportunities for him (you are correct in not sharing with him your questions -- that's what we are here for These types of things have to run through the minds of parents -- it's ok to think outloud here

Telling a girlfriend/fiancé about his disease is a personal choice but most people find that a potential partner either sticks it out or doesn't -- just like any other situation that comes along it's for them to decide what they can handle or not.

 

[Alyssa]

Yes, you understand correctly -- having mild mutations is sometimes a blessing but not a guarantee.

I understand your questions about "normal" life and girl friend/marrage/kids etc -- but you know what? .... I think you already consider him to have a normal life (in that you have taken his health issues in stride and gotten the best care possible and moved on with how life is for him - this is his life) Like Melissa said many things are possible - try not to limit his opportunities for him (you are correct in not sharing with him your questions -- that's what we are here for These types of things have to run through the minds of parents -- it's ok to think outloud here

Telling a girlfriend/fiancé about his disease is a personal choice but most people find that a potential partner either sticks it out or doesn't -- just like any other situation that comes along it's for them to decide what they can handle or not.

 

[Alyssa]

Yes, you understand correctly -- having mild mutations is sometimes a blessing but not a guarantee.

I understand your questions about "normal" life and girl friend/marrage/kids etc -- but you know what? .... I think you already consider him to have a normal life (in that you have taken his health issues in stride and gotten the best care possible and moved on with how life is for him - this is his life) Like Melissa said many things are possible - try not to limit his opportunities for him (you are correct in not sharing with him your questions -- that's what we are here for These types of things have to run through the minds of parents -- it's ok to think outloud here

Telling a girlfriend/fiancé about his disease is a personal choice but most people find that a potential partner either sticks it out or doesn't -- just like any other situation that comes along it's for them to decide what they can handle or not.

 

[Alyssa]

Yes, you understand correctly -- having mild mutations is sometimes a blessing but not a guarantee.

I understand your questions about "normal" life and girl friend/marrage/kids etc -- but you know what? .... I think you already consider him to have a normal life (in that you have taken his health issues in stride and gotten the best care possible and moved on with how life is for him - this is his life) Like Melissa said many things are possible - try not to limit his opportunities for him (you are correct in not sharing with him your questions -- that's what we are here for These types of things have to run through the minds of parents -- it's ok to think outloud here

Telling a girlfriend/fiancé about his disease is a personal choice but most people find that a potential partner either sticks it out or doesn't -- just like any other situation that comes along it's for them to decide what they can handle or not.

 

[Alyssa]

Yes, you understand correctly -- having mild mutations is sometimes a blessing but not a guarantee.

I understand your questions about "normal" life and girl friend/marrage/kids etc -- but you know what? .... I think you already consider him to have a normal life (in that you have taken his health issues in stride and gotten the best care possible and moved on with how life is for him - this is his life) Like Melissa said many things are possible - try not to limit his opportunities for him (you are correct in not sharing with him your questions -- that's what we are here for These types of things have to run through the minds of parents -- it's ok to think outloud here

Telling a girlfriend/fiancé about his disease is a personal choice but most people find that a potential partner either sticks it out or doesn't -- just like any other situation that comes along it's for them to decide what they can handle or not.

 

[Alyssa]

Yes, you understand correctly -- having mild mutations is sometimes a blessing but not a guarantee.

I understand your questions about "normal" life and girl friend/marrage/kids etc -- but you know what? .... I think you already consider him to have a normal life (in that you have taken his health issues in stride and gotten the best care possible and moved on with how life is for him - this is his life) Like Melissa said many things are possible - try not to limit his opportunities for him (you are correct in not sharing with him your questions -- that's what we are here for These types of things have to run through the minds of parents -- it's ok to think outloud here

Telling a girlfriend/fiancé about his disease is a personal choice but most people find that a potential partner either sticks it out or doesn't -- just like any other situation that comes along it's for them to decide what they can handle or not.

 

[spacemom]

Guys... thanks a billion for your kind supportive words!...
First let me share about the issue of the rectal biopsy.

We went there this morning. Two doctors and a Brazilian one too who was learning the procedure to apply it in her country.
The doctors were extremely accessible and nice, so I asked all about my doubts.
I said I never heard about this test for diagnosis. The doctor explained it's something developed in Germany and being tested in German and Portuguese patients, to be later expanded to other countries.
It's very effective provided the study is done very quicky after the cells are collected.
The tissue theoretically may be collected in any part of the body; after ruling out several organs they were left with the inside of the nose (she said the technical name but i forget) and the rectum.
It seems the inside of the nose poses more difficulties and it's more delicate so they opted for the rectum, which makes the procedure less invasive, and painless.
Then the cells are studied closely as to the way the chlorides exit (or not) the cell.
They actually watch the chlorides function, so by the way they behave they can tell if there is a mutation or a malfunction, and in the case of a mutation the respective severity.
They say it has been working like a charm in the cases of dubious genetic tests both in the German and the Portuguese teams.
So my son did it, the only preparation it took was a mini-enema.
He said it didn't hurt, it was much easier than the rectosigmoidoscopy he did last year when he had hemorroids (and you can't imagine the drama that time <img src="i/expressions/face-icon-small-smile.gif" border="0"> )
I asked then to let us know the results asap.
Ther was another boy for a biopsy, and he had an oxygen bottle... i wondered, in such a bad shape and they still don't know if it's CF or not???
I also asked why they didn't send for the Ambry test and she said yes he's a good candidate, she's going to recommend it to the doctor who's following my son. (This wasn't his regular doctor, but a member of the research team).
So, I'm relieved now that he did it and was OK, no pain, no bleeding.
Let's see what happens.

Thanks for pointing out that many CF'ers have a normal life, get married and have kids...
I still get troubled that he may hipothetically have children from a woman that is unknowingly a CF carrier ... in which case she would have the fetus tested, and in case it's a Cf'er it would have to be aborted. That's pretty violent per my book, wouldn't it be easier if the future mom has genetic tests?

Anyway the comment he had was - I won't have any problem in adopting kids - to which I said GREAT! and I meant it. I told my son whatever he chooses to do he will always have my inconditional support, as I'm sure you tell or think of telling your children if they're still little.

Good thoughts your way guys and I'll be sure to post more about this test if I can.

 

[spacemom]

Guys... thanks a billion for your kind supportive words!...
First let me share about the issue of the rectal biopsy.

We went there this morning. Two doctors and a Brazilian one too who was learning the procedure to apply it in her country.
The doctors were extremely accessible and nice, so I asked all about my doubts.
I said I never heard about this test for diagnosis. The doctor explained it's something developed in Germany and being tested in German and Portuguese patients, to be later expanded to other countries.
It's very effective provided the study is done very quicky after the cells are collected.
The tissue theoretically may be collected in any part of the body; after ruling out several organs they were left with the inside of the nose (she said the technical name but i forget) and the rectum.
It seems the inside of the nose poses more difficulties and it's more delicate so they opted for the rectum, which makes the procedure less invasive, and painless.
Then the cells are studied closely as to the way the chlorides exit (or not) the cell.
They actually watch the chlorides function, so by the way they behave they can tell if there is a mutation or a malfunction, and in the case of a mutation the respective severity.
They say it has been working like a charm in the cases of dubious genetic tests both in the German and the Portuguese teams.
So my son did it, the only preparation it took was a mini-enema.
He said it didn't hurt, it was much easier than the rectosigmoidoscopy he did last year when he had hemorroids (and you can't imagine the drama that time <img src="i/expressions/face-icon-small-smile.gif" border="0"> )
I asked then to let us know the results asap.
Ther was another boy for a biopsy, and he had an oxygen bottle... i wondered, in such a bad shape and they still don't know if it's CF or not???
I also asked why they didn't send for the Ambry test and she said yes he's a good candidate, she's going to recommend it to the doctor who's following my son. (This wasn't his regular doctor, but a member of the research team).
So, I'm relieved now that he did it and was OK, no pain, no bleeding.
Let's see what happens.

Thanks for pointing out that many CF'ers have a normal life, get married and have kids...
I still get troubled that he may hipothetically have children from a woman that is unknowingly a CF carrier ... in which case she would have the fetus tested, and in case it's a Cf'er it would have to be aborted. That's pretty violent per my book, wouldn't it be easier if the future mom has genetic tests?

Anyway the comment he had was - I won't have any problem in adopting kids - to which I said GREAT! and I meant it. I told my son whatever he chooses to do he will always have my inconditional support, as I'm sure you tell or think of telling your children if they're still little.

Good thoughts your way guys and I'll be sure to post more about this test if I can.

 

[spacemom]

Guys... thanks a billion for your kind supportive words!...
First let me share about the issue of the rectal biopsy.

We went there this morning. Two doctors and a Brazilian one too who was learning the procedure to apply it in her country.
The doctors were extremely accessible and nice, so I asked all about my doubts.
I said I never heard about this test for diagnosis. The doctor explained it's something developed in Germany and being tested in German and Portuguese patients, to be later expanded to other countries.
It's very effective provided the study is done very quicky after the cells are collected.
The tissue theoretically may be collected in any part of the body; after ruling out several organs they were left with the inside of the nose (she said the technical name but i forget) and the rectum.
It seems the inside of the nose poses more difficulties and it's more delicate so they opted for the rectum, which makes the procedure less invasive, and painless.
Then the cells are studied closely as to the way the chlorides exit (or not) the cell.
They actually watch the chlorides function, so by the way they behave they can tell if there is a mutation or a malfunction, and in the case of a mutation the respective severity.
They say it has been working like a charm in the cases of dubious genetic tests both in the German and the Portuguese teams.
So my son did it, the only preparation it took was a mini-enema.
He said it didn't hurt, it was much easier than the rectosigmoidoscopy he did last year when he had hemorroids (and you can't imagine the drama that time <img src="i/expressions/face-icon-small-smile.gif" border="0"> )
I asked then to let us know the results asap.
Ther was another boy for a biopsy, and he had an oxygen bottle... i wondered, in such a bad shape and they still don't know if it's CF or not???
I also asked why they didn't send for the Ambry test and she said yes he's a good candidate, she's going to recommend it to the doctor who's following my son. (This wasn't his regular doctor, but a member of the research team).
So, I'm relieved now that he did it and was OK, no pain, no bleeding.
Let's see what happens.

Thanks for pointing out that many CF'ers have a normal life, get married and have kids...
I still get troubled that he may hipothetically have children from a woman that is unknowingly a CF carrier ... in which case she would have the fetus tested, and in case it's a Cf'er it would have to be aborted. That's pretty violent per my book, wouldn't it be easier if the future mom has genetic tests?

Anyway the comment he had was - I won't have any problem in adopting kids - to which I said GREAT! and I meant it. I told my son whatever he chooses to do he will always have my inconditional support, as I'm sure you tell or think of telling your children if they're still little.

Good thoughts your way guys and I'll be sure to post more about this test if I can.

 

[spacemom]

Guys... thanks a billion for your kind supportive words!...
First let me share about the issue of the rectal biopsy.

We went there this morning. Two doctors and a Brazilian one too who was learning the procedure to apply it in her country.
The doctors were extremely accessible and nice, so I asked all about my doubts.
I said I never heard about this test for diagnosis. The doctor explained it's something developed in Germany and being tested in German and Portuguese patients, to be later expanded to other countries.
It's very effective provided the study is done very quicky after the cells are collected.
The tissue theoretically may be collected in any part of the body; after ruling out several organs they were left with the inside of the nose (she said the technical name but i forget) and the rectum.
It seems the inside of the nose poses more difficulties and it's more delicate so they opted for the rectum, which makes the procedure less invasive, and painless.
Then the cells are studied closely as to the way the chlorides exit (or not) the cell.
They actually watch the chlorides function, so by the way they behave they can tell if there is a mutation or a malfunction, and in the case of a mutation the respective severity.
They say it has been working like a charm in the cases of dubious genetic tests both in the German and the Portuguese teams.
So my son did it, the only preparation it took was a mini-enema.
He said it didn't hurt, it was much easier than the rectosigmoidoscopy he did last year when he had hemorroids (and you can't imagine the drama that time <img src="i/expressions/face-icon-small-smile.gif" border="0"> )
I asked then to let us know the results asap.
Ther was another boy for a biopsy, and he had an oxygen bottle... i wondered, in such a bad shape and they still don't know if it's CF or not???
I also asked why they didn't send for the Ambry test and she said yes he's a good candidate, she's going to recommend it to the doctor who's following my son. (This wasn't his regular doctor, but a member of the research team).
So, I'm relieved now that he did it and was OK, no pain, no bleeding.
Let's see what happens.

Thanks for pointing out that many CF'ers have a normal life, get married and have kids...
I still get troubled that he may hipothetically have children from a woman that is unknowingly a CF carrier ... in which case she would have the fetus tested, and in case it's a Cf'er it would have to be aborted. That's pretty violent per my book, wouldn't it be easier if the future mom has genetic tests?

Anyway the comment he had was - I won't have any problem in adopting kids - to which I said GREAT! and I meant it. I told my son whatever he chooses to do he will always have my inconditional support, as I'm sure you tell or think of telling your children if they're still little.

Good thoughts your way guys and I'll be sure to post more about this test if I can.

 

[spacemom]

Guys... thanks a billion for your kind supportive words!...
First let me share about the issue of the rectal biopsy.

We went there this morning. Two doctors and a Brazilian one too who was learning the procedure to apply it in her country.
The doctors were extremely accessible and nice, so I asked all about my doubts.
I said I never heard about this test for diagnosis. The doctor explained it's something developed in Germany and being tested in German and Portuguese patients, to be later expanded to other countries.
It's very effective provided the study is done very quicky after the cells are collected.
The tissue theoretically may be collected in any part of the body; after ruling out several organs they were left with the inside of the nose (she said the technical name but i forget) and the rectum.
It seems the inside of the nose poses more difficulties and it's more delicate so they opted for the rectum, which makes the procedure less invasive, and painless.
Then the cells are studied closely as to the way the chlorides exit (or not) the cell.
They actually watch the chlorides function, so by the way they behave they can tell if there is a mutation or a malfunction, and in the case of a mutation the respective severity.
They say it has been working like a charm in the cases of dubious genetic tests both in the German and the Portuguese teams.
So my son did it, the only preparation it took was a mini-enema.
He said it didn't hurt, it was much easier than the rectosigmoidoscopy he did last year when he had hemorroids (and you can't imagine the drama that time <img src="i/expressions/face-icon-small-smile.gif" border="0"> )
I asked then to let us know the results asap.
Ther was another boy for a biopsy, and he had an oxygen bottle... i wondered, in such a bad shape and they still don't know if it's CF or not???
I also asked why they didn't send for the Ambry test and she said yes he's a good candidate, she's going to recommend it to the doctor who's following my son. (This wasn't his regular doctor, but a member of the research team).
So, I'm relieved now that he did it and was OK, no pain, no bleeding.
Let's see what happens.

Thanks for pointing out that many CF'ers have a normal life, get married and have kids...
I still get troubled that he may hipothetically have children from a woman that is unknowingly a CF carrier ... in which case she would have the fetus tested, and in case it's a Cf'er it would have to be aborted. That's pretty violent per my book, wouldn't it be easier if the future mom has genetic tests?

Anyway the comment he had was - I won't have any problem in adopting kids - to which I said GREAT! and I meant it. I told my son whatever he chooses to do he will always have my inconditional support, as I'm sure you tell or think of telling your children if they're still little.

Good thoughts your way guys and I'll be sure to post more about this test if I can.

 

[spacemom]

Guys... thanks a billion for your kind supportive words!...
First let me share about the issue of the rectal biopsy.

We went there this morning. Two doctors and a Brazilian one too who was learning the procedure to apply it in her country.
The doctors were extremely accessible and nice, so I asked all about my doubts.
I said I never heard about this test for diagnosis. The doctor explained it's something developed in Germany and being tested in German and Portuguese patients, to be later expanded to other countries.
It's very effective provided the study is done very quicky after the cells are collected.
The tissue theoretically may be collected in any part of the body; after ruling out several organs they were left with the inside of the nose (she said the technical name but i forget) and the rectum.
It seems the inside of the nose poses more difficulties and it's more delicate so they opted for the rectum, which makes the procedure less invasive, and painless.
Then the cells are studied closely as to the way the chlorides exit (or not) the cell.
They actually watch the chlorides function, so by the way they behave they can tell if there is a mutation or a malfunction, and in the case of a mutation the respective severity.
They say it has been working like a charm in the cases of dubious genetic tests both in the German and the Portuguese teams.
So my son did it, the only preparation it took was a mini-enema.
He said it didn't hurt, it was much easier than the rectosigmoidoscopy he did last year when he had hemorroids (and you can't imagine the drama that time <img src="i/expressions/face-icon-small-smile.gif" border="0"> )
I asked then to let us know the results asap.
Ther was another boy for a biopsy, and he had an oxygen bottle... i wondered, in such a bad shape and they still don't know if it's CF or not???
I also asked why they didn't send for the Ambry test and she said yes he's a good candidate, she's going to recommend it to the doctor who's following my son. (This wasn't his regular doctor, but a member of the research team).
So, I'm relieved now that he did it and was OK, no pain, no bleeding.
Let's see what happens.

Thanks for pointing out that many CF'ers have a normal life, get married and have kids...
I still get troubled that he may hipothetically have children from a woman that is unknowingly a CF carrier ... in which case she would have the fetus tested, and in case it's a Cf'er it would have to be aborted. That's pretty violent per my book, wouldn't it be easier if the future mom has genetic tests?

Anyway the comment he had was - I won't have any problem in adopting kids - to which I said GREAT! and I meant it. I told my son whatever he chooses to do he will always have my inconditional support, as I'm sure you tell or think of telling your children if they're still little.

Good thoughts your way guys and I'll be sure to post more about this test if I can.

 

[ktsmom]

Spacemom - thanks for clarifying the rectal biopsy thing. I'm really being immature but I laughed out loud when I read the part "so they opted for the rectum, which makes the procedure less invasive, and painless". I've had two C-sections so I know its all relative, but still nothing about rectums seems "non-invasive". Although I've also seen my child with a rectal proplapse and I don't think I'll ever recover from that.

Okay back to the other issue - we are so looking forward to a long beautiful life for our CF child. You have reasons to be hopeful as well, and I wish you and your family the absolute best! Stick around and keep us posted on how it all goes!

 

[ktsmom]

Spacemom - thanks for clarifying the rectal biopsy thing. I'm really being immature but I laughed out loud when I read the part "so they opted for the rectum, which makes the procedure less invasive, and painless". I've had two C-sections so I know its all relative, but still nothing about rectums seems "non-invasive". Although I've also seen my child with a rectal proplapse and I don't think I'll ever recover from that.

Okay back to the other issue - we are so looking forward to a long beautiful life for our CF child. You have reasons to be hopeful as well, and I wish you and your family the absolute best! Stick around and keep us posted on how it all goes!

 

[ktsmom]

Spacemom - thanks for clarifying the rectal biopsy thing. I'm really being immature but I laughed out loud when I read the part "so they opted for the rectum, which makes the procedure less invasive, and painless". I've had two C-sections so I know its all relative, but still nothing about rectums seems "non-invasive". Although I've also seen my child with a rectal proplapse and I don't think I'll ever recover from that.

Okay back to the other issue - we are so looking forward to a long beautiful life for our CF child. You have reasons to be hopeful as well, and I wish you and your family the absolute best! Stick around and keep us posted on how it all goes!

 

[ktsmom]

Spacemom - thanks for clarifying the rectal biopsy thing. I'm really being immature but I laughed out loud when I read the part "so they opted for the rectum, which makes the procedure less invasive, and painless". I've had two C-sections so I know its all relative, but still nothing about rectums seems "non-invasive". Although I've also seen my child with a rectal proplapse and I don't think I'll ever recover from that.

Okay back to the other issue - we are so looking forward to a long beautiful life for our CF child. You have reasons to be hopeful as well, and I wish you and your family the absolute best! Stick around and keep us posted on how it all goes!

 

[ktsmom]

Spacemom - thanks for clarifying the rectal biopsy thing. I'm really being immature but I laughed out loud when I read the part "so they opted for the rectum, which makes the procedure less invasive, and painless". I've had two C-sections so I know its all relative, but still nothing about rectums seems "non-invasive". Although I've also seen my child with a rectal proplapse and I don't think I'll ever recover from that.

Okay back to the other issue - we are so looking forward to a long beautiful life for our CF child. You have reasons to be hopeful as well, and I wish you and your family the absolute best! Stick around and keep us posted on how it all goes!

 

[ktsmom]

Spacemom - thanks for clarifying the rectal biopsy thing. I'm really being immature but I laughed out loud when I read the part "so they opted for the rectum, which makes the procedure less invasive, and painless". I've had two C-sections so I know its all relative, but still nothing about rectums seems "non-invasive". Although I've also seen my child with a rectal proplapse and I don't think I'll ever recover from that.

Okay back to the other issue - we are so looking forward to a long beautiful life for our CF child. You have reasons to be hopeful as well, and I wish you and your family the absolute best! Stick around and keep us posted on how it all goes!