?? about GI probs as symptom

TonyaH · Jan 27, 2008

?? about GI probs as symptoms

Hi there,

My son is now 10 years old. He has both digestive and respiratory issues. However, for his first 5 years or so, he had no lung involvement whatsoever. He was diagnosed at 2 months due to failure to thrive and has always been very dependent on his digestive meds.

From everyones stories here, I'm sure you have figured out that yes, there is a possiblity your son could have CF. But, there is also a possiblity he may not. Finding the right diagnosis is something we have all been through and it is not a fun time. Please come here with any questions you have. We are all willing to help and share our experiences.

I did want to mention one thing about the diagnosis process. You are fortunate in one aspect, because your son is be genetically screened for CF. May people here start with a sweat test, which can be inconclusive...(giving false negatives, coming up boarderline and leaving you with more questions, etc.) In that case the next step is genetic testing. So, you are getting a more conclusive test first.

The nice thing about sweat testing is that it takes all of about an hour in the office, is very non-invasive, and gives a result quickly. In my son't case, we knew that same afternoon. So, it may be nice for you to go ahead and have the sweat test and know that if you get a negative or boarderline result, you still have the genetic test in the works. (I've never heard of a sweat test giving a false positive...others, correct me if I'm wrong here.)

Once last thought, and then I'll end this long response...The Ambry genetic test is the most comprehensive test. Of the countless mutations known by science today, Ambry tests for the largest number of them. You may want to ask your doctor what lab they sent the test to.

Sorry this was so much...But Good Luck! And please, keep us posted!

TonyaH · Jan 27, 2008

?? about GI probs as symptoms

Hi there,

My son is now 10 years old. He has both digestive and respiratory issues. However, for his first 5 years or so, he had no lung involvement whatsoever. He was diagnosed at 2 months due to failure to thrive and has always been very dependent on his digestive meds.

From everyones stories here, I'm sure you have figured out that yes, there is a possiblity your son could have CF. But, there is also a possiblity he may not. Finding the right diagnosis is something we have all been through and it is not a fun time. Please come here with any questions you have. We are all willing to help and share our experiences.

I did want to mention one thing about the diagnosis process. You are fortunate in one aspect, because your son is be genetically screened for CF. May people here start with a sweat test, which can be inconclusive...(giving false negatives, coming up boarderline and leaving you with more questions, etc.) In that case the next step is genetic testing. So, you are getting a more conclusive test first.

The nice thing about sweat testing is that it takes all of about an hour in the office, is very non-invasive, and gives a result quickly. In my son't case, we knew that same afternoon. So, it may be nice for you to go ahead and have the sweat test and know that if you get a negative or boarderline result, you still have the genetic test in the works. (I've never heard of a sweat test giving a false positive...others, correct me if I'm wrong here.)

Once last thought, and then I'll end this long response...The Ambry genetic test is the most comprehensive test. Of the countless mutations known by science today, Ambry tests for the largest number of them. You may want to ask your doctor what lab they sent the test to.

Sorry this was so much...But Good Luck! And please, keep us posted!

TonyaH · Jan 27, 2008

?? about GI probs as symptoms

Hi there,

My son is now 10 years old. He has both digestive and respiratory issues. However, for his first 5 years or so, he had no lung involvement whatsoever. He was diagnosed at 2 months due to failure to thrive and has always been very dependent on his digestive meds.

From everyones stories here, I'm sure you have figured out that yes, there is a possiblity your son could have CF. But, there is also a possiblity he may not. Finding the right diagnosis is something we have all been through and it is not a fun time. Please come here with any questions you have. We are all willing to help and share our experiences.

I did want to mention one thing about the diagnosis process. You are fortunate in one aspect, because your son is be genetically screened for CF. May people here start with a sweat test, which can be inconclusive...(giving false negatives, coming up boarderline and leaving you with more questions, etc.) In that case the next step is genetic testing. So, you are getting a more conclusive test first.

The nice thing about sweat testing is that it takes all of about an hour in the office, is very non-invasive, and gives a result quickly. In my son't case, we knew that same afternoon. So, it may be nice for you to go ahead and have the sweat test and know that if you get a negative or boarderline result, you still have the genetic test in the works. (I've never heard of a sweat test giving a false positive...others, correct me if I'm wrong here.)

Once last thought, and then I'll end this long response...The Ambry genetic test is the most comprehensive test. Of the countless mutations known by science today, Ambry tests for the largest number of them. You may want to ask your doctor what lab they sent the test to.

Sorry this was so much...But Good Luck! And please, keep us posted!

TonyaH · Jan 27, 2008

?? about GI probs as symptoms

Hi there,

My son is now 10 years old. He has both digestive and respiratory issues. However, for his first 5 years or so, he had no lung involvement whatsoever. He was diagnosed at 2 months due to failure to thrive and has always been very dependent on his digestive meds.

From everyones stories here, I'm sure you have figured out that yes, there is a possiblity your son could have CF. But, there is also a possiblity he may not. Finding the right diagnosis is something we have all been through and it is not a fun time. Please come here with any questions you have. We are all willing to help and share our experiences.

I did want to mention one thing about the diagnosis process. You are fortunate in one aspect, because your son is be genetically screened for CF. May people here start with a sweat test, which can be inconclusive...(giving false negatives, coming up boarderline and leaving you with more questions, etc.) In that case the next step is genetic testing. So, you are getting a more conclusive test first.

The nice thing about sweat testing is that it takes all of about an hour in the office, is very non-invasive, and gives a result quickly. In my son't case, we knew that same afternoon. So, it may be nice for you to go ahead and have the sweat test and know that if you get a negative or boarderline result, you still have the genetic test in the works. (I've never heard of a sweat test giving a false positive...others, correct me if I'm wrong here.)

Once last thought, and then I'll end this long response...The Ambry genetic test is the most comprehensive test. Of the countless mutations known by science today, Ambry tests for the largest number of them. You may want to ask your doctor what lab they sent the test to.

Sorry this was so much...But Good Luck! And please, keep us posted!

TonyaH · Jan 27, 2008

?? about GI probs as symptoms

Hi there,

My son is now 10 years old. He has both digestive and respiratory issues. However, for his first 5 years or so, he had no lung involvement whatsoever. He was diagnosed at 2 months due to failure to thrive and has always been very dependent on his digestive meds.

From everyones stories here, I'm sure you have figured out that yes, there is a possiblity your son could have CF. But, there is also a possiblity he may not. Finding the right diagnosis is something we have all been through and it is not a fun time. Please come here with any questions you have. We are all willing to help and share our experiences.

I did want to mention one thing about the diagnosis process. You are fortunate in one aspect, because your son is be genetically screened for CF. May people here start with a sweat test, which can be inconclusive...(giving false negatives, coming up boarderline and leaving you with more questions, etc.) In that case the next step is genetic testing. So, you are getting a more conclusive test first.

The nice thing about sweat testing is that it takes all of about an hour in the office, is very non-invasive, and gives a result quickly. In my son't case, we knew that same afternoon. So, it may be nice for you to go ahead and have the sweat test and know that if you get a negative or boarderline result, you still have the genetic test in the works. (I've never heard of a sweat test giving a false positive...others, correct me if I'm wrong here.)

Once last thought, and then I'll end this long response...The Ambry genetic test is the most comprehensive test. Of the countless mutations known by science today, Ambry tests for the largest number of them. You may want to ask your doctor what lab they sent the test to.

Sorry this was so much...But Good Luck! And please, keep us posted!

Alyssa · Jan 27, 2008

?? about GI probs as symptoms

I'm sorry to say that no, this is not a far-fetched scenario at all. But that also does not mean he has CF. But yes, I do think it is possible. It is my understanding that rectal prolapse is most often seen in malnutrition cases, and untreated CF can cause malnutrition. The problems you have listed could be non-CF problems, but yet still causing the same malnutrition and/or rectal prolapse. Sorry... I'm pretty sure I was going in circles there

Do follow through with genetic testing and sweat testing. Be careful to make sure of a couple of things: with the sweat testing.... if you get a clear cut positive, you know genetic testing will follow and he will probably be given the diagnosis of CF based on the positive sweat test first. But if the sweat test is high normal or borderline area you will want be sure to push for full genetic testing -- too many people have normal sweat test numbers but do go on to find they do have CF when they get genetic testing. Bottom line is there are usually no false positive, but there are often times false negatives -- these must be followed up with full genetic testing.... and do not let them do some cheap genetic screening only.... they like to start with only 30 or 98 genes, but the truth is there are well over 1500 genes to test for, looking for anything less than all of them will not give you an accurate answer... you will still be left wondering if your child has two of the 1400 that they never even tested for!

I think you have a very strong case for pursuing CF testing, push to get it all done so you know if you are dealing with CF or not, and keep in mind that at this age it is very common to NOT see any lung issues yet. My daughter didn't show any lung symptoms until age 5 years -- my son not until age 21 years !!!

Go to CFF.org to find a certified clinic near you -- see if you can get in with a doctor there - they are the best doctors to work with because they know the most about CF. Often times other doctors just don't have the newest information and they can easily miss a diagnosis because of old stereotypical ideas about CF.

Please keep us updated on what you are told.

Alyssa · Jan 27, 2008

?? about GI probs as symptoms

I'm sorry to say that no, this is not a far-fetched scenario at all. But that also does not mean he has CF. But yes, I do think it is possible. It is my understanding that rectal prolapse is most often seen in malnutrition cases, and untreated CF can cause malnutrition. The problems you have listed could be non-CF problems, but yet still causing the same malnutrition and/or rectal prolapse. Sorry... I'm pretty sure I was going in circles there

Do follow through with genetic testing and sweat testing. Be careful to make sure of a couple of things: with the sweat testing.... if you get a clear cut positive, you know genetic testing will follow and he will probably be given the diagnosis of CF based on the positive sweat test first. But if the sweat test is high normal or borderline area you will want be sure to push for full genetic testing -- too many people have normal sweat test numbers but do go on to find they do have CF when they get genetic testing. Bottom line is there are usually no false positive, but there are often times false negatives -- these must be followed up with full genetic testing.... and do not let them do some cheap genetic screening only.... they like to start with only 30 or 98 genes, but the truth is there are well over 1500 genes to test for, looking for anything less than all of them will not give you an accurate answer... you will still be left wondering if your child has two of the 1400 that they never even tested for!

I think you have a very strong case for pursuing CF testing, push to get it all done so you know if you are dealing with CF or not, and keep in mind that at this age it is very common to NOT see any lung issues yet. My daughter didn't show any lung symptoms until age 5 years -- my son not until age 21 years !!!

Go to CFF.org to find a certified clinic near you -- see if you can get in with a doctor there - they are the best doctors to work with because they know the most about CF. Often times other doctors just don't have the newest information and they can easily miss a diagnosis because of old stereotypical ideas about CF.

Please keep us updated on what you are told.

Alyssa · Jan 27, 2008

?? about GI probs as symptoms

I'm sorry to say that no, this is not a far-fetched scenario at all. But that also does not mean he has CF. But yes, I do think it is possible. It is my understanding that rectal prolapse is most often seen in malnutrition cases, and untreated CF can cause malnutrition. The problems you have listed could be non-CF problems, but yet still causing the same malnutrition and/or rectal prolapse. Sorry... I'm pretty sure I was going in circles there

Do follow through with genetic testing and sweat testing. Be careful to make sure of a couple of things: with the sweat testing.... if you get a clear cut positive, you know genetic testing will follow and he will probably be given the diagnosis of CF based on the positive sweat test first. But if the sweat test is high normal or borderline area you will want be sure to push for full genetic testing -- too many people have normal sweat test numbers but do go on to find they do have CF when they get genetic testing. Bottom line is there are usually no false positive, but there are often times false negatives -- these must be followed up with full genetic testing.... and do not let them do some cheap genetic screening only.... they like to start with only 30 or 98 genes, but the truth is there are well over 1500 genes to test for, looking for anything less than all of them will not give you an accurate answer... you will still be left wondering if your child has two of the 1400 that they never even tested for!

I think you have a very strong case for pursuing CF testing, push to get it all done so you know if you are dealing with CF or not, and keep in mind that at this age it is very common to NOT see any lung issues yet. My daughter didn't show any lung symptoms until age 5 years -- my son not until age 21 years !!!

Go to CFF.org to find a certified clinic near you -- see if you can get in with a doctor there - they are the best doctors to work with because they know the most about CF. Often times other doctors just don't have the newest information and they can easily miss a diagnosis because of old stereotypical ideas about CF.

Please keep us updated on what you are told.

Alyssa · Jan 27, 2008

?? about GI probs as symptoms

I'm sorry to say that no, this is not a far-fetched scenario at all. But that also does not mean he has CF. But yes, I do think it is possible. It is my understanding that rectal prolapse is most often seen in malnutrition cases, and untreated CF can cause malnutrition. The problems you have listed could be non-CF problems, but yet still causing the same malnutrition and/or rectal prolapse. Sorry... I'm pretty sure I was going in circles there

Do follow through with genetic testing and sweat testing. Be careful to make sure of a couple of things: with the sweat testing.... if you get a clear cut positive, you know genetic testing will follow and he will probably be given the diagnosis of CF based on the positive sweat test first. But if the sweat test is high normal or borderline area you will want be sure to push for full genetic testing -- too many people have normal sweat test numbers but do go on to find they do have CF when they get genetic testing. Bottom line is there are usually no false positive, but there are often times false negatives -- these must be followed up with full genetic testing.... and do not let them do some cheap genetic screening only.... they like to start with only 30 or 98 genes, but the truth is there are well over 1500 genes to test for, looking for anything less than all of them will not give you an accurate answer... you will still be left wondering if your child has two of the 1400 that they never even tested for!

I think you have a very strong case for pursuing CF testing, push to get it all done so you know if you are dealing with CF or not, and keep in mind that at this age it is very common to NOT see any lung issues yet. My daughter didn't show any lung symptoms until age 5 years -- my son not until age 21 years !!!

Go to CFF.org to find a certified clinic near you -- see if you can get in with a doctor there - they are the best doctors to work with because they know the most about CF. Often times other doctors just don't have the newest information and they can easily miss a diagnosis because of old stereotypical ideas about CF.

Please keep us updated on what you are told.

Alyssa · Jan 27, 2008

?? about GI probs as symptoms

I'm sorry to say that no, this is not a far-fetched scenario at all. But that also does not mean he has CF. But yes, I do think it is possible. It is my understanding that rectal prolapse is most often seen in malnutrition cases, and untreated CF can cause malnutrition. The problems you have listed could be non-CF problems, but yet still causing the same malnutrition and/or rectal prolapse. Sorry... I'm pretty sure I was going in circles there

Do follow through with genetic testing and sweat testing. Be careful to make sure of a couple of things: with the sweat testing.... if you get a clear cut positive, you know genetic testing will follow and he will probably be given the diagnosis of CF based on the positive sweat test first. But if the sweat test is high normal or borderline area you will want be sure to push for full genetic testing -- too many people have normal sweat test numbers but do go on to find they do have CF when they get genetic testing. Bottom line is there are usually no false positive, but there are often times false negatives -- these must be followed up with full genetic testing.... and do not let them do some cheap genetic screening only.... they like to start with only 30 or 98 genes, but the truth is there are well over 1500 genes to test for, looking for anything less than all of them will not give you an accurate answer... you will still be left wondering if your child has two of the 1400 that they never even tested for!

I think you have a very strong case for pursuing CF testing, push to get it all done so you know if you are dealing with CF or not, and keep in mind that at this age it is very common to NOT see any lung issues yet. My daughter didn't show any lung symptoms until age 5 years -- my son not until age 21 years !!!

Go to CFF.org to find a certified clinic near you -- see if you can get in with a doctor there - they are the best doctors to work with because they know the most about CF. Often times other doctors just don't have the newest information and they can easily miss a diagnosis because of old stereotypical ideas about CF.

Please keep us updated on what you are told.

BrsMiney · Jan 27, 2008

?? about GI probs as symptoms

Even though DS's weight dropped off dramatically at around age two, he has never been labeled FTT. I have no idea if he has malnutrition issues, but considering he is active, growing, and has healthy hair/eyes/nails, I do not see what is considered "malnutrition". Although I suppose there could be certain nutrients he is not getting that caused the prolapses, but are not affecting his overall health? Yes he is underweight, but his height is fine and he is muscular (yes he is a muscular 3 yr old--very odd), not "skinny".

I'm not trying to see the glass 1/2 full, just trying to take in what all was said here and see how and if it applies.

I'm definitely going to continue to pursue testing, but after these responses I feel better not worse.

Thank you all,
-J

BrsMiney · Jan 27, 2008

?? about GI probs as symptoms

Even though DS's weight dropped off dramatically at around age two, he has never been labeled FTT. I have no idea if he has malnutrition issues, but considering he is active, growing, and has healthy hair/eyes/nails, I do not see what is considered "malnutrition". Although I suppose there could be certain nutrients he is not getting that caused the prolapses, but are not affecting his overall health? Yes he is underweight, but his height is fine and he is muscular (yes he is a muscular 3 yr old--very odd), not "skinny".

I'm not trying to see the glass 1/2 full, just trying to take in what all was said here and see how and if it applies.

I'm definitely going to continue to pursue testing, but after these responses I feel better not worse.

Thank you all,
-J

BrsMiney · Jan 27, 2008

?? about GI probs as symptoms

Even though DS's weight dropped off dramatically at around age two, he has never been labeled FTT. I have no idea if he has malnutrition issues, but considering he is active, growing, and has healthy hair/eyes/nails, I do not see what is considered "malnutrition". Although I suppose there could be certain nutrients he is not getting that caused the prolapses, but are not affecting his overall health? Yes he is underweight, but his height is fine and he is muscular (yes he is a muscular 3 yr old--very odd), not "skinny".

I'm not trying to see the glass 1/2 full, just trying to take in what all was said here and see how and if it applies.

I'm definitely going to continue to pursue testing, but after these responses I feel better not worse.

Thank you all,
-J

BrsMiney · Jan 27, 2008

?? about GI probs as symptoms

Even though DS's weight dropped off dramatically at around age two, he has never been labeled FTT. I have no idea if he has malnutrition issues, but considering he is active, growing, and has healthy hair/eyes/nails, I do not see what is considered "malnutrition". Although I suppose there could be certain nutrients he is not getting that caused the prolapses, but are not affecting his overall health? Yes he is underweight, but his height is fine and he is muscular (yes he is a muscular 3 yr old--very odd), not "skinny".

I'm not trying to see the glass 1/2 full, just trying to take in what all was said here and see how and if it applies.

I'm definitely going to continue to pursue testing, but after these responses I feel better not worse.

Thank you all,
-J

BrsMiney · Jan 27, 2008

?? about GI probs as symptoms

Even though DS's weight dropped off dramatically at around age two, he has never been labeled FTT. I have no idea if he has malnutrition issues, but considering he is active, growing, and has healthy hair/eyes/nails, I do not see what is considered "malnutrition". Although I suppose there could be certain nutrients he is not getting that caused the prolapses, but are not affecting his overall health? Yes he is underweight, but his height is fine and he is muscular (yes he is a muscular 3 yr old--very odd), not "skinny".

I'm not trying to see the glass 1/2 full, just trying to take in what all was said here and see how and if it applies.

I'm definitely going to continue to pursue testing, but after these responses I feel better not worse.

Thank you all,
-J

Alyssa · Jan 27, 2008