help confused about my sons possible cf

[badjaw]

this is my first time posting a message not sure if i am doing this correctly.

I have a 6 month old boy and he went to the ER at 8wks old and stayed in the hospital for 2 months. previously he was diagnosed with milk allergies and possibly coming down with a virus at the same time. he had lots of blood in the stool and watery diahrrea. his pancreas was not working and he was not gaining weight. now is pancreas is at 195 and above 200 is normal. after a month in the hospital the decided to do a sweat test it cames back 44 and another one came back i believe 49. at birth the blood test were negative and his father is negative. he also had the 2 month blood screening which was negative. but the sweat tests are almost positive. i have read that sweat test should not be performed on sick children and he was deathly sick. so they ordered a third sweat test dec 18th. can anyone help me.

worried to death mother

 

[badjaw]

this is my first time posting a message not sure if i am doing this correctly.

I have a 6 month old boy and he went to the ER at 8wks old and stayed in the hospital for 2 months. previously he was diagnosed with milk allergies and possibly coming down with a virus at the same time. he had lots of blood in the stool and watery diahrrea. his pancreas was not working and he was not gaining weight. now is pancreas is at 195 and above 200 is normal. after a month in the hospital the decided to do a sweat test it cames back 44 and another one came back i believe 49. at birth the blood test were negative and his father is negative. he also had the 2 month blood screening which was negative. but the sweat tests are almost positive. i have read that sweat test should not be performed on sick children and he was deathly sick. so they ordered a third sweat test dec 18th. can anyone help me.

worried to death mother

 

[badjaw]

this is my first time posting a message not sure if i am doing this correctly.

I have a 6 month old boy and he went to the ER at 8wks old and stayed in the hospital for 2 months. previously he was diagnosed with milk allergies and possibly coming down with a virus at the same time. he had lots of blood in the stool and watery diahrrea. his pancreas was not working and he was not gaining weight. now is pancreas is at 195 and above 200 is normal. after a month in the hospital the decided to do a sweat test it cames back 44 and another one came back i believe 49. at birth the blood test were negative and his father is negative. he also had the 2 month blood screening which was negative. but the sweat tests are almost positive. i have read that sweat test should not be performed on sick children and he was deathly sick. so they ordered a third sweat test dec 18th. can anyone help me.

worried to death mother

 

[badjaw]

this is my first time posting a message not sure if i am doing this correctly.

I have a 6 month old boy and he went to the ER at 8wks old and stayed in the hospital for 2 months. previously he was diagnosed with milk allergies and possibly coming down with a virus at the same time. he had lots of blood in the stool and watery diahrrea. his pancreas was not working and he was not gaining weight. now is pancreas is at 195 and above 200 is normal. after a month in the hospital the decided to do a sweat test it cames back 44 and another one came back i believe 49. at birth the blood test were negative and his father is negative. he also had the 2 month blood screening which was negative. but the sweat tests are almost positive. i have read that sweat test should not be performed on sick children and he was deathly sick. so they ordered a third sweat test dec 18th. can anyone help me.

worried to death mother

 

[badjaw]

this is my first time posting a message not sure if i am doing this correctly.

I have a 6 month old boy and he went to the ER at 8wks old and stayed in the hospital for 2 months. previously he was diagnosed with milk allergies and possibly coming down with a virus at the same time. he had lots of blood in the stool and watery diahrrea. his pancreas was not working and he was not gaining weight. now is pancreas is at 195 and above 200 is normal. after a month in the hospital the decided to do a sweat test it cames back 44 and another one came back i believe 49. at birth the blood test were negative and his father is negative. he also had the 2 month blood screening which was negative. but the sweat tests are almost positive. i have read that sweat test should not be performed on sick children and he was deathly sick. so they ordered a third sweat test dec 18th. can anyone help me.

worried to death mother

 

[Mommafirst]

I'm not sure what it means that his blood screen is negative. It seems to me that with the borderline (40-60's) sweats and his pancreas not functioning, that he most certainly should get a fully genetic CF testing done (ask for the deletions and duplications sequencing, NOT a screening. I'm sorry you have had all of these issues, I'm sure you must be worried and frustrated. I hope you find some answers.

 

[Mommafirst]

I'm not sure what it means that his blood screen is negative. It seems to me that with the borderline (40-60's) sweats and his pancreas not functioning, that he most certainly should get a fully genetic CF testing done (ask for the deletions and duplications sequencing, NOT a screening. I'm sorry you have had all of these issues, I'm sure you must be worried and frustrated. I hope you find some answers.

 

[Mommafirst]

I'm not sure what it means that his blood screen is negative. It seems to me that with the borderline (40-60's) sweats and his pancreas not functioning, that he most certainly should get a fully genetic CF testing done (ask for the deletions and duplications sequencing, NOT a screening. I'm sorry you have had all of these issues, I'm sure you must be worried and frustrated. I hope you find some answers.

 

[Mommafirst]

I'm not sure what it means that his blood screen is negative. It seems to me that with the borderline (40-60's) sweats and his pancreas not functioning, that he most certainly should get a fully genetic CF testing done (ask for the deletions and duplications sequencing, NOT a screening. I'm sorry you have had all of these issues, I'm sure you must be worried and frustrated. I hope you find some answers.

 

[Mommafirst]

I'm not sure what it means that his blood screen is negative. It seems to me that with the borderline (40-60's) sweats and his pancreas not functioning, that he most certainly should get a fully genetic CF testing done (ask for the deletions and duplications sequencing, NOT a screening. I'm sorry you have had all of these issues, I'm sure you must be worried and frustrated. I hope you find some answers.

 

[badjaw]

he has had the full blood testing for genetic forms located in california that takes 10wks and that came back neg., they are saying he is presenting atypically.

 

[badjaw]

he has had the full blood testing for genetic forms located in california that takes 10wks and that came back neg., they are saying he is presenting atypically.

 

[badjaw]

he has had the full blood testing for genetic forms located in california that takes 10wks and that came back neg., they are saying he is presenting atypically.

 

[badjaw]

he has had the full blood testing for genetic forms located in california that takes 10wks and that came back neg., they are saying he is presenting atypically.

 

[badjaw]

he has had the full blood testing for genetic forms located in california that takes 10wks and that came back neg., they are saying he is presenting atypically.

 

[Alyssa]

Do you know if the genetic testing was done through Ambry? If it was, Steve here on the family section can help you determine exactly what testing was done and what may have been left out of the testing. I know you said full blood testing -- but sometimes parents have been mislead by someone (nurse, phlebotomist, etc) and they think they are getting the whole test, but in reality they are not. So double check what you did and didn't receive... like mommafirst mentioned ask about full testing with deletion and duplication testing included.

I've not heard of sweat tests being inaccurate due to illness.... they are inaccurate mostly all on their own no matter when they are done just because so many people still test negative but do in fact have two CF genes. Hopefully you can get some good follow through with a CF doctor after the next sweat test is done.

Regardless of the sweat tests and genetic tests, I would highly recommend getting to a certified CF clinic and asking to be treated "as a CF patient" this is done when a patient has CF symptoms and inconclusive test results. The benefit is that they patient gets the best care and CF treatments.

I'm so sorry, this must be a very hard time for you.... many here have gone through very similar times -- hang in there and please keep us posted.

 

[Alyssa]

Do you know if the genetic testing was done through Ambry? If it was, Steve here on the family section can help you determine exactly what testing was done and what may have been left out of the testing. I know you said full blood testing -- but sometimes parents have been mislead by someone (nurse, phlebotomist, etc) and they think they are getting the whole test, but in reality they are not. So double check what you did and didn't receive... like mommafirst mentioned ask about full testing with deletion and duplication testing included.

I've not heard of sweat tests being inaccurate due to illness.... they are inaccurate mostly all on their own no matter when they are done just because so many people still test negative but do in fact have two CF genes. Hopefully you can get some good follow through with a CF doctor after the next sweat test is done.

Regardless of the sweat tests and genetic tests, I would highly recommend getting to a certified CF clinic and asking to be treated "as a CF patient" this is done when a patient has CF symptoms and inconclusive test results. The benefit is that they patient gets the best care and CF treatments.

I'm so sorry, this must be a very hard time for you.... many here have gone through very similar times -- hang in there and please keep us posted.

 

[Alyssa]

Do you know if the genetic testing was done through Ambry? If it was, Steve here on the family section can help you determine exactly what testing was done and what may have been left out of the testing. I know you said full blood testing -- but sometimes parents have been mislead by someone (nurse, phlebotomist, etc) and they think they are getting the whole test, but in reality they are not. So double check what you did and didn't receive... like mommafirst mentioned ask about full testing with deletion and duplication testing included.

I've not heard of sweat tests being inaccurate due to illness.... they are inaccurate mostly all on their own no matter when they are done just because so many people still test negative but do in fact have two CF genes. Hopefully you can get some good follow through with a CF doctor after the next sweat test is done.

Regardless of the sweat tests and genetic tests, I would highly recommend getting to a certified CF clinic and asking to be treated "as a CF patient" this is done when a patient has CF symptoms and inconclusive test results. The benefit is that they patient gets the best care and CF treatments.

I'm so sorry, this must be a very hard time for you.... many here have gone through very similar times -- hang in there and please keep us posted.

 

[Alyssa]

Do you know if the genetic testing was done through Ambry? If it was, Steve here on the family section can help you determine exactly what testing was done and what may have been left out of the testing. I know you said full blood testing -- but sometimes parents have been mislead by someone (nurse, phlebotomist, etc) and they think they are getting the whole test, but in reality they are not. So double check what you did and didn't receive... like mommafirst mentioned ask about full testing with deletion and duplication testing included.

I've not heard of sweat tests being inaccurate due to illness.... they are inaccurate mostly all on their own no matter when they are done just because so many people still test negative but do in fact have two CF genes. Hopefully you can get some good follow through with a CF doctor after the next sweat test is done.

Regardless of the sweat tests and genetic tests, I would highly recommend getting to a certified CF clinic and asking to be treated "as a CF patient" this is done when a patient has CF symptoms and inconclusive test results. The benefit is that they patient gets the best care and CF treatments.

I'm so sorry, this must be a very hard time for you.... many here have gone through very similar times -- hang in there and please keep us posted.

 

[Alyssa]

Do you know if the genetic testing was done through Ambry? If it was, Steve here on the family section can help you determine exactly what testing was done and what may have been left out of the testing. I know you said full blood testing -- but sometimes parents have been mislead by someone (nurse, phlebotomist, etc) and they think they are getting the whole test, but in reality they are not. So double check what you did and didn't receive... like mommafirst mentioned ask about full testing with deletion and duplication testing included.

I've not heard of sweat tests being inaccurate due to illness.... they are inaccurate mostly all on their own no matter when they are done just because so many people still test negative but do in fact have two CF genes. Hopefully you can get some good follow through with a CF doctor after the next sweat test is done.

Regardless of the sweat tests and genetic tests, I would highly recommend getting to a certified CF clinic and asking to be treated "as a CF patient" this is done when a patient has CF symptoms and inconclusive test results. The benefit is that they patient gets the best care and CF treatments.

I'm so sorry, this must be a very hard time for you.... many here have gone through very similar times -- hang in there and please keep us posted.