Rectal biopsy for CF??? Never heard of this

[JORDYSMOM]

Hi:

We had no CF in our family either. We didn't even have previous cases of Asthma, which is what my son was dx with for the first 15 years of his life. That and sinus issues, along with some stomach issues.

I know what you mean about feeling guilty. I too feel it, but of course we cannot control which genes or mutations of them that our children get. My CFer has has rare mutations. It really stinks that a family can go many generations without CF rearing it's ugly head and them bam!

I do hope you get some answers for your son. I know it has made a huge difference in how my son feels now that he is being treated for what really ails him. Hang in there.

 

[JORDYSMOM]

Hi:

We had no CF in our family either. We didn't even have previous cases of Asthma, which is what my son was dx with for the first 15 years of his life. That and sinus issues, along with some stomach issues.

I know what you mean about feeling guilty. I too feel it, but of course we cannot control which genes or mutations of them that our children get. My CFer has has rare mutations. It really stinks that a family can go many generations without CF rearing it's ugly head and them bam!

I do hope you get some answers for your son. I know it has made a huge difference in how my son feels now that he is being treated for what really ails him. Hang in there.

 

[JORDYSMOM]

Hi:

We had no CF in our family either. We didn't even have previous cases of Asthma, which is what my son was dx with for the first 15 years of his life. That and sinus issues, along with some stomach issues.

I know what you mean about feeling guilty. I too feel it, but of course we cannot control which genes or mutations of them that our children get. My CFer has has rare mutations. It really stinks that a family can go many generations without CF rearing it's ugly head and them bam!

I do hope you get some answers for your son. I know it has made a huge difference in how my son feels now that he is being treated for what really ails him. Hang in there.

 

[JORDYSMOM]

Hi:

We had no CF in our family either. We didn't even have previous cases of Asthma, which is what my son was dx with for the first 15 years of his life. That and sinus issues, along with some stomach issues.

I know what you mean about feeling guilty. I too feel it, but of course we cannot control which genes or mutations of them that our children get. My CFer has has rare mutations. It really stinks that a family can go many generations without CF rearing it's ugly head and them bam!

I do hope you get some answers for your son. I know it has made a huge difference in how my son feels now that he is being treated for what really ails him. Hang in there.

 

[Alyssa]

I'd be for asking the Ambry guy about that quote from your doctor stating the 100 mutations gives you 99% of the most common genes -- as Amy says... I woudn't hang your hat on that either. I would be pretty frustrated if they would not be able to make a positive diagnosis because they are leaving out 1400 genes in their search.

But, like I said before -- the good news is he is getting the correct treatment. Count your blessings that he doesn't have more CF related problems. It is very important that they keep treating and following him.

If he were in the US he would probably get the entire 1500 gene search but even without it I would venture a guess that most doctors would give him the diagnosis since 50 is clearly above normal range for the sweat test -- anything in the borderline area with CF symptoms (especially constant PA) would most likely get him diagnosed, no question.

Ditto to the others about family history -- nobody on either side of our families had ever heard of CF before now. It is genetic but you can't really say "it runs in the family" like big feet or noses It happens when you are both carriers and being a carrier usually goes un-noticed.

 

[Alyssa]

I'd be for asking the Ambry guy about that quote from your doctor stating the 100 mutations gives you 99% of the most common genes -- as Amy says... I woudn't hang your hat on that either. I would be pretty frustrated if they would not be able to make a positive diagnosis because they are leaving out 1400 genes in their search.

But, like I said before -- the good news is he is getting the correct treatment. Count your blessings that he doesn't have more CF related problems. It is very important that they keep treating and following him.

If he were in the US he would probably get the entire 1500 gene search but even without it I would venture a guess that most doctors would give him the diagnosis since 50 is clearly above normal range for the sweat test -- anything in the borderline area with CF symptoms (especially constant PA) would most likely get him diagnosed, no question.

Ditto to the others about family history -- nobody on either side of our families had ever heard of CF before now. It is genetic but you can't really say "it runs in the family" like big feet or noses It happens when you are both carriers and being a carrier usually goes un-noticed.

 

[Alyssa]

I'd be for asking the Ambry guy about that quote from your doctor stating the 100 mutations gives you 99% of the most common genes -- as Amy says... I woudn't hang your hat on that either. I would be pretty frustrated if they would not be able to make a positive diagnosis because they are leaving out 1400 genes in their search.

But, like I said before -- the good news is he is getting the correct treatment. Count your blessings that he doesn't have more CF related problems. It is very important that they keep treating and following him.

If he were in the US he would probably get the entire 1500 gene search but even without it I would venture a guess that most doctors would give him the diagnosis since 50 is clearly above normal range for the sweat test -- anything in the borderline area with CF symptoms (especially constant PA) would most likely get him diagnosed, no question.

Ditto to the others about family history -- nobody on either side of our families had ever heard of CF before now. It is genetic but you can't really say "it runs in the family" like big feet or noses It happens when you are both carriers and being a carrier usually goes un-noticed.

 

[Alyssa]

I'd be for asking the Ambry guy about that quote from your doctor stating the 100 mutations gives you 99% of the most common genes -- as Amy says... I woudn't hang your hat on that either. I would be pretty frustrated if they would not be able to make a positive diagnosis because they are leaving out 1400 genes in their search.

But, like I said before -- the good news is he is getting the correct treatment. Count your blessings that he doesn't have more CF related problems. It is very important that they keep treating and following him.

If he were in the US he would probably get the entire 1500 gene search but even without it I would venture a guess that most doctors would give him the diagnosis since 50 is clearly above normal range for the sweat test -- anything in the borderline area with CF symptoms (especially constant PA) would most likely get him diagnosed, no question.

Ditto to the others about family history -- nobody on either side of our families had ever heard of CF before now. It is genetic but you can't really say "it runs in the family" like big feet or noses It happens when you are both carriers and being a carrier usually goes un-noticed.

 

[Alyssa]

I'd be for asking the Ambry guy about that quote from your doctor stating the 100 mutations gives you 99% of the most common genes -- as Amy says... I woudn't hang your hat on that either. I would be pretty frustrated if they would not be able to make a positive diagnosis because they are leaving out 1400 genes in their search.

But, like I said before -- the good news is he is getting the correct treatment. Count your blessings that he doesn't have more CF related problems. It is very important that they keep treating and following him.

If he were in the US he would probably get the entire 1500 gene search but even without it I would venture a guess that most doctors would give him the diagnosis since 50 is clearly above normal range for the sweat test -- anything in the borderline area with CF symptoms (especially constant PA) would most likely get him diagnosed, no question.

Ditto to the others about family history -- nobody on either side of our families had ever heard of CF before now. It is genetic but you can't really say "it runs in the family" like big feet or noses It happens when you are both carriers and being a carrier usually goes un-noticed.

 

[Alyssa]

I'd be for asking the Ambry guy about that quote from your doctor stating the 100 mutations gives you 99% of the most common genes -- as Amy says... I woudn't hang your hat on that either. I would be pretty frustrated if they would not be able to make a positive diagnosis because they are leaving out 1400 genes in their search.

But, like I said before -- the good news is he is getting the correct treatment. Count your blessings that he doesn't have more CF related problems. It is very important that they keep treating and following him.

If he were in the US he would probably get the entire 1500 gene search but even without it I would venture a guess that most doctors would give him the diagnosis since 50 is clearly above normal range for the sweat test -- anything in the borderline area with CF symptoms (especially constant PA) would most likely get him diagnosed, no question.

Ditto to the others about family history -- nobody on either side of our families had ever heard of CF before now. It is genetic but you can't really say "it runs in the family" like big feet or noses It happens when you are both carriers and being a carrier usually goes un-noticed.

 

[spacemom]

Thanks everybody for your support!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
It means so much to know you're not alone!

So, many of you haven't heard about CF in the family either.
It sounds mind boggling... but as my son's doctor says, CF has been recognized not long ago (in terms of generations). In my grand-parents generation, CF could come across as "bad colds", "having weak lungs", etc... For instance, my mom knows her older brother died very young (she never met him) but she doesn't know exactly of what. This was in the early 1910's.

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? I know this may sound petty to those of you whose kids have a life-threatening condition (though even a mild one can develop into a life-threatening one, if I understood correctly).
I'm sure you've discussed this a lot in the forums, and I don't personally know anybody who has the disease, so... please bear with me <img src="i/expressions/face-icon-small-smile.gif" border="0">

About the rectal biopsy, doctor told my DS it's a new procedure and he and another boy will be the first to do it... Puzzling!... I'll tell you more details later.

Thanks again!... you're wonderful, people!... may the future be kind to you and your loved ones. To all of us!...

 

[spacemom]

Thanks everybody for your support!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
It means so much to know you're not alone!

So, many of you haven't heard about CF in the family either.
It sounds mind boggling... but as my son's doctor says, CF has been recognized not long ago (in terms of generations). In my grand-parents generation, CF could come across as "bad colds", "having weak lungs", etc... For instance, my mom knows her older brother died very young (she never met him) but she doesn't know exactly of what. This was in the early 1910's.

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? I know this may sound petty to those of you whose kids have a life-threatening condition (though even a mild one can develop into a life-threatening one, if I understood correctly).
I'm sure you've discussed this a lot in the forums, and I don't personally know anybody who has the disease, so... please bear with me <img src="i/expressions/face-icon-small-smile.gif" border="0">

About the rectal biopsy, doctor told my DS it's a new procedure and he and another boy will be the first to do it... Puzzling!... I'll tell you more details later.

Thanks again!... you're wonderful, people!... may the future be kind to you and your loved ones. To all of us!...

 

[spacemom]

Thanks everybody for your support!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
It means so much to know you're not alone!

So, many of you haven't heard about CF in the family either.
It sounds mind boggling... but as my son's doctor says, CF has been recognized not long ago (in terms of generations). In my grand-parents generation, CF could come across as "bad colds", "having weak lungs", etc... For instance, my mom knows her older brother died very young (she never met him) but she doesn't know exactly of what. This was in the early 1910's.

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? I know this may sound petty to those of you whose kids have a life-threatening condition (though even a mild one can develop into a life-threatening one, if I understood correctly).
I'm sure you've discussed this a lot in the forums, and I don't personally know anybody who has the disease, so... please bear with me <img src="i/expressions/face-icon-small-smile.gif" border="0">

About the rectal biopsy, doctor told my DS it's a new procedure and he and another boy will be the first to do it... Puzzling!... I'll tell you more details later.

Thanks again!... you're wonderful, people!... may the future be kind to you and your loved ones. To all of us!...

 

[spacemom]

Thanks everybody for your support!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
It means so much to know you're not alone!

So, many of you haven't heard about CF in the family either.
It sounds mind boggling... but as my son's doctor says, CF has been recognized not long ago (in terms of generations). In my grand-parents generation, CF could come across as "bad colds", "having weak lungs", etc... For instance, my mom knows her older brother died very young (she never met him) but she doesn't know exactly of what. This was in the early 1910's.

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? I know this may sound petty to those of you whose kids have a life-threatening condition (though even a mild one can develop into a life-threatening one, if I understood correctly).
I'm sure you've discussed this a lot in the forums, and I don't personally know anybody who has the disease, so... please bear with me <img src="i/expressions/face-icon-small-smile.gif" border="0">

About the rectal biopsy, doctor told my DS it's a new procedure and he and another boy will be the first to do it... Puzzling!... I'll tell you more details later.

Thanks again!... you're wonderful, people!... may the future be kind to you and your loved ones. To all of us!...

 

[spacemom]

Thanks everybody for your support!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
It means so much to know you're not alone!

So, many of you haven't heard about CF in the family either.
It sounds mind boggling... but as my son's doctor says, CF has been recognized not long ago (in terms of generations). In my grand-parents generation, CF could come across as "bad colds", "having weak lungs", etc... For instance, my mom knows her older brother died very young (she never met him) but she doesn't know exactly of what. This was in the early 1910's.

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? I know this may sound petty to those of you whose kids have a life-threatening condition (though even a mild one can develop into a life-threatening one, if I understood correctly).
I'm sure you've discussed this a lot in the forums, and I don't personally know anybody who has the disease, so... please bear with me <img src="i/expressions/face-icon-small-smile.gif" border="0">

About the rectal biopsy, doctor told my DS it's a new procedure and he and another boy will be the first to do it... Puzzling!... I'll tell you more details later.

Thanks again!... you're wonderful, people!... may the future be kind to you and your loved ones. To all of us!...

 

[spacemom]

Thanks everybody for your support!!! <img src="i/expressions/face-icon-small-smile.gif" border="0">
It means so much to know you're not alone!

So, many of you haven't heard about CF in the family either.
It sounds mind boggling... but as my son's doctor says, CF has been recognized not long ago (in terms of generations). In my grand-parents generation, CF could come across as "bad colds", "having weak lungs", etc... For instance, my mom knows her older brother died very young (she never met him) but she doesn't know exactly of what. This was in the early 1910's.

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? I know this may sound petty to those of you whose kids have a life-threatening condition (though even a mild one can develop into a life-threatening one, if I understood correctly).
I'm sure you've discussed this a lot in the forums, and I don't personally know anybody who has the disease, so... please bear with me <img src="i/expressions/face-icon-small-smile.gif" border="0">

About the rectal biopsy, doctor told my DS it's a new procedure and he and another boy will be the first to do it... Puzzling!... I'll tell you more details later.

Thanks again!... you're wonderful, people!... may the future be kind to you and your loved ones. To all of us!...

 

[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></div>

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></div>

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></div>

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></div>

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.