Nervous mother

laughenjoylove1 · Oct 29, 2007

My daughter goes tomorrow for her first sweat test...

About a week ago my daughter had a bowel movement and passed a very large mucus plug. It looked like a very large egg yolk with a "tube" attached. There were streaks of dark blood in it. Along with that and the stool there were also tons of little fiber-looking stings in the toilet as well. *Has anyone with CF ever experienced this?
I took her and the "mucus plug" to the emergency room. The Dr there just said that if she had a cold it's possible that it just passed through the stool if it wasn't expelled through her nose. No test were run, no stool samples, no xrays to check for obstruction or anything. My daughter has always had very loose stool and diarrhea.
Last weekend she seemed to get worse. She woke up on Wednesday with a non- productive croopy cough. I took her to her pediatrician and after discussing everything and her past medical history she referred her to the hospital to get a sewat test to check for CF. Honestly, I had heard of CF but didn't really know much about it. Of course she said not to worry too much...and of course here I am worrying. The more I've researched about CF the more I get this gut feeling that she may have it. She has lost 5 or 6lbs in the past couple of months. She doesn't want to eat anything...just drink.
She was very sick last year. For nearly four months straight. We were in the Dr's office at least once a week. (This was a different doctor in another state). They did chest xrays, in office breathing treatments, and she was put on three different anti-biotics back to back. She seemed to get better for a few days and then she was sick again. They put her on a nebulizer with Pulmicort and Albuterol. She was finally sent to a pediatric pulminologist. He tested her for allergies and replaced the Pulmicort with Xopenex. He ran a slew of other blood tests. The next week I moved here to NY and her results were sent to me.
As I was looking through her medical file yesterday I found the test results and one of the pages was a CF mutation analysis from genzyme. It states "negative for the 97 mutations analyzed". I never even knew they were testing her for CF...the pulminologist never said anything to me.
I was told that it will take a week to get the results of the sweat test. I'm so nervous. I wonder, if in my mind, I'm making the symptoms fit this particular disease - not because I want her to have it, but because I'm just looking for an answer.
Thank you so much for taking the time to read this and respond with any comments or answers to my questions.

laughenjoylove1 · Oct 29, 2007

My daughter goes tomorrow for her first sweat test...

About a week ago my daughter had a bowel movement and passed a very large mucus plug. It looked like a very large egg yolk with a "tube" attached. There were streaks of dark blood in it. Along with that and the stool there were also tons of little fiber-looking stings in the toilet as well. *Has anyone with CF ever experienced this?
I took her and the "mucus plug" to the emergency room. The Dr there just said that if she had a cold it's possible that it just passed through the stool if it wasn't expelled through her nose. No test were run, no stool samples, no xrays to check for obstruction or anything. My daughter has always had very loose stool and diarrhea.
Last weekend she seemed to get worse. She woke up on Wednesday with a non- productive croopy cough. I took her to her pediatrician and after discussing everything and her past medical history she referred her to the hospital to get a sewat test to check for CF. Honestly, I had heard of CF but didn't really know much about it. Of course she said not to worry too much...and of course here I am worrying. The more I've researched about CF the more I get this gut feeling that she may have it. She has lost 5 or 6lbs in the past couple of months. She doesn't want to eat anything...just drink.
She was very sick last year. For nearly four months straight. We were in the Dr's office at least once a week. (This was a different doctor in another state). They did chest xrays, in office breathing treatments, and she was put on three different anti-biotics back to back. She seemed to get better for a few days and then she was sick again. They put her on a nebulizer with Pulmicort and Albuterol. She was finally sent to a pediatric pulminologist. He tested her for allergies and replaced the Pulmicort with Xopenex. He ran a slew of other blood tests. The next week I moved here to NY and her results were sent to me.
As I was looking through her medical file yesterday I found the test results and one of the pages was a CF mutation analysis from genzyme. It states "negative for the 97 mutations analyzed". I never even knew they were testing her for CF...the pulminologist never said anything to me.
I was told that it will take a week to get the results of the sweat test. I'm so nervous. I wonder, if in my mind, I'm making the symptoms fit this particular disease - not because I want her to have it, but because I'm just looking for an answer.
Thank you so much for taking the time to read this and respond with any comments or answers to my questions.

laughenjoylove1 · Oct 29, 2007

My daughter goes tomorrow for her first sweat test...

About a week ago my daughter had a bowel movement and passed a very large mucus plug. It looked like a very large egg yolk with a "tube" attached. There were streaks of dark blood in it. Along with that and the stool there were also tons of little fiber-looking stings in the toilet as well. *Has anyone with CF ever experienced this?
I took her and the "mucus plug" to the emergency room. The Dr there just said that if she had a cold it's possible that it just passed through the stool if it wasn't expelled through her nose. No test were run, no stool samples, no xrays to check for obstruction or anything. My daughter has always had very loose stool and diarrhea.
Last weekend she seemed to get worse. She woke up on Wednesday with a non- productive croopy cough. I took her to her pediatrician and after discussing everything and her past medical history she referred her to the hospital to get a sewat test to check for CF. Honestly, I had heard of CF but didn't really know much about it. Of course she said not to worry too much...and of course here I am worrying. The more I've researched about CF the more I get this gut feeling that she may have it. She has lost 5 or 6lbs in the past couple of months. She doesn't want to eat anything...just drink.
She was very sick last year. For nearly four months straight. We were in the Dr's office at least once a week. (This was a different doctor in another state). They did chest xrays, in office breathing treatments, and she was put on three different anti-biotics back to back. She seemed to get better for a few days and then she was sick again. They put her on a nebulizer with Pulmicort and Albuterol. She was finally sent to a pediatric pulminologist. He tested her for allergies and replaced the Pulmicort with Xopenex. He ran a slew of other blood tests. The next week I moved here to NY and her results were sent to me.
As I was looking through her medical file yesterday I found the test results and one of the pages was a CF mutation analysis from genzyme. It states "negative for the 97 mutations analyzed". I never even knew they were testing her for CF...the pulminologist never said anything to me.
I was told that it will take a week to get the results of the sweat test. I'm so nervous. I wonder, if in my mind, I'm making the symptoms fit this particular disease - not because I want her to have it, but because I'm just looking for an answer.
Thank you so much for taking the time to read this and respond with any comments or answers to my questions.

laughenjoylove1 · Oct 29, 2007

My daughter goes tomorrow for her first sweat test...

About a week ago my daughter had a bowel movement and passed a very large mucus plug. It looked like a very large egg yolk with a "tube" attached. There were streaks of dark blood in it. Along with that and the stool there were also tons of little fiber-looking stings in the toilet as well. *Has anyone with CF ever experienced this?
I took her and the "mucus plug" to the emergency room. The Dr there just said that if she had a cold it's possible that it just passed through the stool if it wasn't expelled through her nose. No test were run, no stool samples, no xrays to check for obstruction or anything. My daughter has always had very loose stool and diarrhea.
Last weekend she seemed to get worse. She woke up on Wednesday with a non- productive croopy cough. I took her to her pediatrician and after discussing everything and her past medical history she referred her to the hospital to get a sewat test to check for CF. Honestly, I had heard of CF but didn't really know much about it. Of course she said not to worry too much...and of course here I am worrying. The more I've researched about CF the more I get this gut feeling that she may have it. She has lost 5 or 6lbs in the past couple of months. She doesn't want to eat anything...just drink.
She was very sick last year. For nearly four months straight. We were in the Dr's office at least once a week. (This was a different doctor in another state). They did chest xrays, in office breathing treatments, and she was put on three different anti-biotics back to back. She seemed to get better for a few days and then she was sick again. They put her on a nebulizer with Pulmicort and Albuterol. She was finally sent to a pediatric pulminologist. He tested her for allergies and replaced the Pulmicort with Xopenex. He ran a slew of other blood tests. The next week I moved here to NY and her results were sent to me.
As I was looking through her medical file yesterday I found the test results and one of the pages was a CF mutation analysis from genzyme. It states "negative for the 97 mutations analyzed". I never even knew they were testing her for CF...the pulminologist never said anything to me.
I was told that it will take a week to get the results of the sweat test. I'm so nervous. I wonder, if in my mind, I'm making the symptoms fit this particular disease - not because I want her to have it, but because I'm just looking for an answer.
Thank you so much for taking the time to read this and respond with any comments or answers to my questions.

laughenjoylove1 · Oct 29, 2007

My daughter goes tomorrow for her first sweat test...

About a week ago my daughter had a bowel movement and passed a very large mucus plug. It looked like a very large egg yolk with a "tube" attached. There were streaks of dark blood in it. Along with that and the stool there were also tons of little fiber-looking stings in the toilet as well. *Has anyone with CF ever experienced this?
I took her and the "mucus plug" to the emergency room. The Dr there just said that if she had a cold it's possible that it just passed through the stool if it wasn't expelled through her nose. No test were run, no stool samples, no xrays to check for obstruction or anything. My daughter has always had very loose stool and diarrhea.
Last weekend she seemed to get worse. She woke up on Wednesday with a non- productive croopy cough. I took her to her pediatrician and after discussing everything and her past medical history she referred her to the hospital to get a sewat test to check for CF. Honestly, I had heard of CF but didn't really know much about it. Of course she said not to worry too much...and of course here I am worrying. The more I've researched about CF the more I get this gut feeling that she may have it. She has lost 5 or 6lbs in the past couple of months. She doesn't want to eat anything...just drink.
She was very sick last year. For nearly four months straight. We were in the Dr's office at least once a week. (This was a different doctor in another state). They did chest xrays, in office breathing treatments, and she was put on three different anti-biotics back to back. She seemed to get better for a few days and then she was sick again. They put her on a nebulizer with Pulmicort and Albuterol. She was finally sent to a pediatric pulminologist. He tested her for allergies and replaced the Pulmicort with Xopenex. He ran a slew of other blood tests. The next week I moved here to NY and her results were sent to me.
As I was looking through her medical file yesterday I found the test results and one of the pages was a CF mutation analysis from genzyme. It states "negative for the 97 mutations analyzed". I never even knew they were testing her for CF...the pulminologist never said anything to me.
I was told that it will take a week to get the results of the sweat test. I'm so nervous. I wonder, if in my mind, I'm making the symptoms fit this particular disease - not because I want her to have it, but because I'm just looking for an answer.
Thank you so much for taking the time to read this and respond with any comments or answers to my questions.

Mommafirst · Oct 29, 2007

I know its nerve wracking, I hope it goes well for you tomorrow.

How old is your daughter?

Anyway, I doubt you'll get anyone to say not to worry or that it just can't be CF around here. But remember, we've all been down this road and it turned out to be CF, so we are a bit jaded and biased by it.

If I were you, I'd most definitely push the testing. If the sweat is high and diagnoses her you will at least have an answer. Unfortunately, based on all I've seen around this board, I can't tell you that getting a negative on the sweat test will rule out CF for you. In my opinion, you won't be able to rule it out without doing a full genetic test. There are over 1500 mutations, so the 97 they checked for really doesn't rule out anything.

good luck, I know how hard this part of the process is. I hope you get some answers and are able to help your daughter.

Mommafirst · Oct 29, 2007

I know its nerve wracking, I hope it goes well for you tomorrow.

How old is your daughter?

Anyway, I doubt you'll get anyone to say not to worry or that it just can't be CF around here. But remember, we've all been down this road and it turned out to be CF, so we are a bit jaded and biased by it.

If I were you, I'd most definitely push the testing. If the sweat is high and diagnoses her you will at least have an answer. Unfortunately, based on all I've seen around this board, I can't tell you that getting a negative on the sweat test will rule out CF for you. In my opinion, you won't be able to rule it out without doing a full genetic test. There are over 1500 mutations, so the 97 they checked for really doesn't rule out anything.

good luck, I know how hard this part of the process is. I hope you get some answers and are able to help your daughter.

Mommafirst · Oct 29, 2007

I know its nerve wracking, I hope it goes well for you tomorrow.

How old is your daughter?

Anyway, I doubt you'll get anyone to say not to worry or that it just can't be CF around here. But remember, we've all been down this road and it turned out to be CF, so we are a bit jaded and biased by it.

If I were you, I'd most definitely push the testing. If the sweat is high and diagnoses her you will at least have an answer. Unfortunately, based on all I've seen around this board, I can't tell you that getting a negative on the sweat test will rule out CF for you. In my opinion, you won't be able to rule it out without doing a full genetic test. There are over 1500 mutations, so the 97 they checked for really doesn't rule out anything.

good luck, I know how hard this part of the process is. I hope you get some answers and are able to help your daughter.

Mommafirst · Oct 29, 2007

I know its nerve wracking, I hope it goes well for you tomorrow.

How old is your daughter?

Anyway, I doubt you'll get anyone to say not to worry or that it just can't be CF around here. But remember, we've all been down this road and it turned out to be CF, so we are a bit jaded and biased by it.

If I were you, I'd most definitely push the testing. If the sweat is high and diagnoses her you will at least have an answer. Unfortunately, based on all I've seen around this board, I can't tell you that getting a negative on the sweat test will rule out CF for you. In my opinion, you won't be able to rule it out without doing a full genetic test. There are over 1500 mutations, so the 97 they checked for really doesn't rule out anything.

good luck, I know how hard this part of the process is. I hope you get some answers and are able to help your daughter.

Mommafirst · Oct 29, 2007

I know its nerve wracking, I hope it goes well for you tomorrow.

How old is your daughter?

Anyway, I doubt you'll get anyone to say not to worry or that it just can't be CF around here. But remember, we've all been down this road and it turned out to be CF, so we are a bit jaded and biased by it.

If I were you, I'd most definitely push the testing. If the sweat is high and diagnoses her you will at least have an answer. Unfortunately, based on all I've seen around this board, I can't tell you that getting a negative on the sweat test will rule out CF for you. In my opinion, you won't be able to rule it out without doing a full genetic test. There are over 1500 mutations, so the 97 they checked for really doesn't rule out anything.

good luck, I know how hard this part of the process is. I hope you get some answers and are able to help your daughter.

Alyssa · Oct 29, 2007

Please go read the other posts about sweat test results on the newly diagnosed boards - there is a lot of discussion there recently.

Don't let the negative 97 mutations fool you -- they missed out on testing for the other 1,700 genes! (last numbers I read were 1,541 genes had now been identified - someone just posted the other day it has increased to over 1,800 genes) so there are way more genes that she was never even tested for.

The key to sweat test results are if they are not clearly a positive number you need to ask for full genetic testing to rule out CF.

No, I don't think you are making the symptoms fit the disease - you have some very valid symptoms and she needs to have good follow through with genetic testing to know for sure.

Please keep us informed as to what happens - also are getting the sweat test done at a CF accredited facility?

Alyssa · Oct 29, 2007

Please go read the other posts about sweat test results on the newly diagnosed boards - there is a lot of discussion there recently.

Don't let the negative 97 mutations fool you -- they missed out on testing for the other 1,700 genes! (last numbers I read were 1,541 genes had now been identified - someone just posted the other day it has increased to over 1,800 genes) so there are way more genes that she was never even tested for.

The key to sweat test results are if they are not clearly a positive number you need to ask for full genetic testing to rule out CF.

No, I don't think you are making the symptoms fit the disease - you have some very valid symptoms and she needs to have good follow through with genetic testing to know for sure.

Please keep us informed as to what happens - also are getting the sweat test done at a CF accredited facility?

Alyssa · Oct 29, 2007

Please go read the other posts about sweat test results on the newly diagnosed boards - there is a lot of discussion there recently.

Don't let the negative 97 mutations fool you -- they missed out on testing for the other 1,700 genes! (last numbers I read were 1,541 genes had now been identified - someone just posted the other day it has increased to over 1,800 genes) so there are way more genes that she was never even tested for.

The key to sweat test results are if they are not clearly a positive number you need to ask for full genetic testing to rule out CF.

No, I don't think you are making the symptoms fit the disease - you have some very valid symptoms and she needs to have good follow through with genetic testing to know for sure.

Please keep us informed as to what happens - also are getting the sweat test done at a CF accredited facility?

Alyssa · Oct 29, 2007

Please go read the other posts about sweat test results on the newly diagnosed boards - there is a lot of discussion there recently.

Don't let the negative 97 mutations fool you -- they missed out on testing for the other 1,700 genes! (last numbers I read were 1,541 genes had now been identified - someone just posted the other day it has increased to over 1,800 genes) so there are way more genes that she was never even tested for.

The key to sweat test results are if they are not clearly a positive number you need to ask for full genetic testing to rule out CF.

No, I don't think you are making the symptoms fit the disease - you have some very valid symptoms and she needs to have good follow through with genetic testing to know for sure.

Please keep us informed as to what happens - also are getting the sweat test done at a CF accredited facility?

Alyssa · Oct 29, 2007

Please go read the other posts about sweat test results on the newly diagnosed boards - there is a lot of discussion there recently.

Don't let the negative 97 mutations fool you -- they missed out on testing for the other 1,700 genes! (last numbers I read were 1,541 genes had now been identified - someone just posted the other day it has increased to over 1,800 genes) so there are way more genes that she was never even tested for.

The key to sweat test results are if they are not clearly a positive number you need to ask for full genetic testing to rule out CF.

No, I don't think you are making the symptoms fit the disease - you have some very valid symptoms and she needs to have good follow through with genetic testing to know for sure.

Please keep us informed as to what happens - also are getting the sweat test done at a CF accredited facility?

Foody · Oct 30, 2007

I am so sorry you are still trying to figure things out and waiting for results is just agonizing. I think you absolutely need to rule out CF with the history you presented. THey need to do a full panel genetic test (Ambry <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx)">http://www.ambrygen.com/ts/ts_cf.aspx)</a> which will check for over 1000 known CF mutations. A sweat test can help confirm things but the blood test is more accurate as some CF people do not have abnormal sweat tests.

The other thing that comes to mind is to get a good GI doctor to check and rule out severe food allergies, Celiacs (can not process gluten protein), and other bowel related diseases/issues. These things can impair the gut very much and will also leave people particularly vulnerable in terms of infections (most of our immune system is related to the gut).

I also am not sure how old your child is or for how long she has been presenting symptoms like this, but you have to push as hard as you need to get the answers. I don't think you are over-reacting...a mother's intuition should never be ignored, even if it doesn't turn out to be CF...you feel there is something not quite right.

Hang in there..our thoughts and positive energy is with you while you wait.

Foody · Oct 30, 2007

I am so sorry you are still trying to figure things out and waiting for results is just agonizing. I think you absolutely need to rule out CF with the history you presented. THey need to do a full panel genetic test (Ambry <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx)">http://www.ambrygen.com/ts/ts_cf.aspx)</a> which will check for over 1000 known CF mutations. A sweat test can help confirm things but the blood test is more accurate as some CF people do not have abnormal sweat tests.

The other thing that comes to mind is to get a good GI doctor to check and rule out severe food allergies, Celiacs (can not process gluten protein), and other bowel related diseases/issues. These things can impair the gut very much and will also leave people particularly vulnerable in terms of infections (most of our immune system is related to the gut).

I also am not sure how old your child is or for how long she has been presenting symptoms like this, but you have to push as hard as you need to get the answers. I don't think you are over-reacting...a mother's intuition should never be ignored, even if it doesn't turn out to be CF...you feel there is something not quite right.

Hang in there..our thoughts and positive energy is with you while you wait.

Foody · Oct 30, 2007

I am so sorry you are still trying to figure things out and waiting for results is just agonizing. I think you absolutely need to rule out CF with the history you presented. THey need to do a full panel genetic test (Ambry <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx)">http://www.ambrygen.com/ts/ts_cf.aspx)</a> which will check for over 1000 known CF mutations. A sweat test can help confirm things but the blood test is more accurate as some CF people do not have abnormal sweat tests.

The other thing that comes to mind is to get a good GI doctor to check and rule out severe food allergies, Celiacs (can not process gluten protein), and other bowel related diseases/issues. These things can impair the gut very much and will also leave people particularly vulnerable in terms of infections (most of our immune system is related to the gut).

I also am not sure how old your child is or for how long she has been presenting symptoms like this, but you have to push as hard as you need to get the answers. I don't think you are over-reacting...a mother's intuition should never be ignored, even if it doesn't turn out to be CF...you feel there is something not quite right.

Hang in there..our thoughts and positive energy is with you while you wait.

Foody · Oct 30, 2007

I am so sorry you are still trying to figure things out and waiting for results is just agonizing. I think you absolutely need to rule out CF with the history you presented. THey need to do a full panel genetic test (Ambry <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx)">http://www.ambrygen.com/ts/ts_cf.aspx)</a> which will check for over 1000 known CF mutations. A sweat test can help confirm things but the blood test is more accurate as some CF people do not have abnormal sweat tests.

The other thing that comes to mind is to get a good GI doctor to check and rule out severe food allergies, Celiacs (can not process gluten protein), and other bowel related diseases/issues. These things can impair the gut very much and will also leave people particularly vulnerable in terms of infections (most of our immune system is related to the gut).

I also am not sure how old your child is or for how long she has been presenting symptoms like this, but you have to push as hard as you need to get the answers. I don't think you are over-reacting...a mother's intuition should never be ignored, even if it doesn't turn out to be CF...you feel there is something not quite right.

Hang in there..our thoughts and positive energy is with you while you wait.

Foody · Oct 30, 2007

I am so sorry you are still trying to figure things out and waiting for results is just agonizing. I think you absolutely need to rule out CF with the history you presented. THey need to do a full panel genetic test (Ambry <a target=_blank class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.aspx)">http://www.ambrygen.com/ts/ts_cf.aspx)</a> which will check for over 1000 known CF mutations. A sweat test can help confirm things but the blood test is more accurate as some CF people do not have abnormal sweat tests.

The other thing that comes to mind is to get a good GI doctor to check and rule out severe food allergies, Celiacs (can not process gluten protein), and other bowel related diseases/issues. These things can impair the gut very much and will also leave people particularly vulnerable in terms of infections (most of our immune system is related to the gut).

I also am not sure how old your child is or for how long she has been presenting symptoms like this, but you have to push as hard as you need to get the answers. I don't think you are over-reacting...a mother's intuition should never be ignored, even if it doesn't turn out to be CF...you feel there is something not quite right.

Hang in there..our thoughts and positive energy is with you while you wait.

Nervous mother

New member

New member

New member

New member

New member

Mommafirst

Guest

Mommafirst

Guest

Mommafirst

Guest

Mommafirst

Guest

Mommafirst

Guest

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member