help confused about my sons possible cf

[badjaw]

thank you for replying
maybe you can help!! i believe i recieved the genetic test bc he first got the screening which picks up the common 32 gene mutations. and it was neg, then they said there was one more test that picks up the rare mutations that is done in rare circumstances it takes two months but i dont know where is was sent to. i do see cf doctors and i heard the ones i see are the best on the east coast. they want to send my son to baltimore for experimental testing for cf bc he is presenting kind of different. me and my husband were tested for the 32 common genes we were neg. but insurance only paid for my son to have the bigger genetic test. they are treating him with all the cf treatments except for lung medications bc he is so young and hasnt had any problems yet. we are seeing so many doctors and they are all specialists and no one has answers should i call that gentic place myself to see what testing he had done, bc i am pretty positive it was the big test. the lung center also said that they have patients that have no known mutations of cf but have positive sweat test.
help

 

[badjaw]

thank you for replying
maybe you can help!! i believe i recieved the genetic test bc he first got the screening which picks up the common 32 gene mutations. and it was neg, then they said there was one more test that picks up the rare mutations that is done in rare circumstances it takes two months but i dont know where is was sent to. i do see cf doctors and i heard the ones i see are the best on the east coast. they want to send my son to baltimore for experimental testing for cf bc he is presenting kind of different. me and my husband were tested for the 32 common genes we were neg. but insurance only paid for my son to have the bigger genetic test. they are treating him with all the cf treatments except for lung medications bc he is so young and hasnt had any problems yet. we are seeing so many doctors and they are all specialists and no one has answers should i call that gentic place myself to see what testing he had done, bc i am pretty positive it was the big test. the lung center also said that they have patients that have no known mutations of cf but have positive sweat test.
help

 

[badjaw]

thank you for replying
maybe you can help!! i believe i recieved the genetic test bc he first got the screening which picks up the common 32 gene mutations. and it was neg, then they said there was one more test that picks up the rare mutations that is done in rare circumstances it takes two months but i dont know where is was sent to. i do see cf doctors and i heard the ones i see are the best on the east coast. they want to send my son to baltimore for experimental testing for cf bc he is presenting kind of different. me and my husband were tested for the 32 common genes we were neg. but insurance only paid for my son to have the bigger genetic test. they are treating him with all the cf treatments except for lung medications bc he is so young and hasnt had any problems yet. we are seeing so many doctors and they are all specialists and no one has answers should i call that gentic place myself to see what testing he had done, bc i am pretty positive it was the big test. the lung center also said that they have patients that have no known mutations of cf but have positive sweat test.
help

 

[badjaw]

thank you for replying
maybe you can help!! i believe i recieved the genetic test bc he first got the screening which picks up the common 32 gene mutations. and it was neg, then they said there was one more test that picks up the rare mutations that is done in rare circumstances it takes two months but i dont know where is was sent to. i do see cf doctors and i heard the ones i see are the best on the east coast. they want to send my son to baltimore for experimental testing for cf bc he is presenting kind of different. me and my husband were tested for the 32 common genes we were neg. but insurance only paid for my son to have the bigger genetic test. they are treating him with all the cf treatments except for lung medications bc he is so young and hasnt had any problems yet. we are seeing so many doctors and they are all specialists and no one has answers should i call that gentic place myself to see what testing he had done, bc i am pretty positive it was the big test. the lung center also said that they have patients that have no known mutations of cf but have positive sweat test.
help

 

[badjaw]

thank you for replying
maybe you can help!! i believe i recieved the genetic test bc he first got the screening which picks up the common 32 gene mutations. and it was neg, then they said there was one more test that picks up the rare mutations that is done in rare circumstances it takes two months but i dont know where is was sent to. i do see cf doctors and i heard the ones i see are the best on the east coast. they want to send my son to baltimore for experimental testing for cf bc he is presenting kind of different. me and my husband were tested for the 32 common genes we were neg. but insurance only paid for my son to have the bigger genetic test. they are treating him with all the cf treatments except for lung medications bc he is so young and hasnt had any problems yet. we are seeing so many doctors and they are all specialists and no one has answers should i call that gentic place myself to see what testing he had done, bc i am pretty positive it was the big test. the lung center also said that they have patients that have no known mutations of cf but have positive sweat test.
help

 

[Alyssa]

If you are seeing good certified CF doctors and they are giving him CF treatments and they are considering diagnosing him based on sweat tests, because the genetic tests have come back negative, my guess is they are assuming he has two CF genes but they have not identified them yet. As someone else mentioned on your other post, the list gets bigger every day. They started off with only 400, and now they are up to 1500-1800, so it is still very possible he has two, they just haven't been identified yet. It does happen.

It sounds like you are treating with some very good doctors and they are on the right track. I know it's frustrating to not get exact cut and dried answers right away..... based on what other's have gone through I would like to let you know how fortunate you are to be treating with certified CF doctors who want to pursue all leads to determine if this is CF and treat him with the best care possible -- there are a lot of parents out there whose physicians refuse to believe they may be dealing with CF and will not investigate any further.....I know that probably doesn't really perk you up, because I know it all still just sucks to have a sick kid and possibly a sick kid with CF.

What do you know about the experimental testing? The only other thing I'm aware of is the nasal potential test -- kind of hard to do on an infant, it could be done I suppose but they don't usually do it until they are quite a bit older -- like 8-10 or so.

 

[Alyssa]

If you are seeing good certified CF doctors and they are giving him CF treatments and they are considering diagnosing him based on sweat tests, because the genetic tests have come back negative, my guess is they are assuming he has two CF genes but they have not identified them yet. As someone else mentioned on your other post, the list gets bigger every day. They started off with only 400, and now they are up to 1500-1800, so it is still very possible he has two, they just haven't been identified yet. It does happen.

It sounds like you are treating with some very good doctors and they are on the right track. I know it's frustrating to not get exact cut and dried answers right away..... based on what other's have gone through I would like to let you know how fortunate you are to be treating with certified CF doctors who want to pursue all leads to determine if this is CF and treat him with the best care possible -- there are a lot of parents out there whose physicians refuse to believe they may be dealing with CF and will not investigate any further.....I know that probably doesn't really perk you up, because I know it all still just sucks to have a sick kid and possibly a sick kid with CF.

What do you know about the experimental testing? The only other thing I'm aware of is the nasal potential test -- kind of hard to do on an infant, it could be done I suppose but they don't usually do it until they are quite a bit older -- like 8-10 or so.

 

[Alyssa]

If you are seeing good certified CF doctors and they are giving him CF treatments and they are considering diagnosing him based on sweat tests, because the genetic tests have come back negative, my guess is they are assuming he has two CF genes but they have not identified them yet. As someone else mentioned on your other post, the list gets bigger every day. They started off with only 400, and now they are up to 1500-1800, so it is still very possible he has two, they just haven't been identified yet. It does happen.

It sounds like you are treating with some very good doctors and they are on the right track. I know it's frustrating to not get exact cut and dried answers right away..... based on what other's have gone through I would like to let you know how fortunate you are to be treating with certified CF doctors who want to pursue all leads to determine if this is CF and treat him with the best care possible -- there are a lot of parents out there whose physicians refuse to believe they may be dealing with CF and will not investigate any further.....I know that probably doesn't really perk you up, because I know it all still just sucks to have a sick kid and possibly a sick kid with CF.

What do you know about the experimental testing? The only other thing I'm aware of is the nasal potential test -- kind of hard to do on an infant, it could be done I suppose but they don't usually do it until they are quite a bit older -- like 8-10 or so.

 

[Alyssa]

If you are seeing good certified CF doctors and they are giving him CF treatments and they are considering diagnosing him based on sweat tests, because the genetic tests have come back negative, my guess is they are assuming he has two CF genes but they have not identified them yet. As someone else mentioned on your other post, the list gets bigger every day. They started off with only 400, and now they are up to 1500-1800, so it is still very possible he has two, they just haven't been identified yet. It does happen.

It sounds like you are treating with some very good doctors and they are on the right track. I know it's frustrating to not get exact cut and dried answers right away..... based on what other's have gone through I would like to let you know how fortunate you are to be treating with certified CF doctors who want to pursue all leads to determine if this is CF and treat him with the best care possible -- there are a lot of parents out there whose physicians refuse to believe they may be dealing with CF and will not investigate any further.....I know that probably doesn't really perk you up, because I know it all still just sucks to have a sick kid and possibly a sick kid with CF.

What do you know about the experimental testing? The only other thing I'm aware of is the nasal potential test -- kind of hard to do on an infant, it could be done I suppose but they don't usually do it until they are quite a bit older -- like 8-10 or so.

 

[Alyssa]

If you are seeing good certified CF doctors and they are giving him CF treatments and they are considering diagnosing him based on sweat tests, because the genetic tests have come back negative, my guess is they are assuming he has two CF genes but they have not identified them yet. As someone else mentioned on your other post, the list gets bigger every day. They started off with only 400, and now they are up to 1500-1800, so it is still very possible he has two, they just haven't been identified yet. It does happen.

It sounds like you are treating with some very good doctors and they are on the right track. I know it's frustrating to not get exact cut and dried answers right away..... based on what other's have gone through I would like to let you know how fortunate you are to be treating with certified CF doctors who want to pursue all leads to determine if this is CF and treat him with the best care possible -- there are a lot of parents out there whose physicians refuse to believe they may be dealing with CF and will not investigate any further.....I know that probably doesn't really perk you up, because I know it all still just sucks to have a sick kid and possibly a sick kid with CF.

What do you know about the experimental testing? The only other thing I'm aware of is the nasal potential test -- kind of hard to do on an infant, it could be done I suppose but they don't usually do it until they are quite a bit older -- like 8-10 or so.

 

[badjaw]

yes, they did mention nasal testing, he will be 1 yr old. but going to baltimore would be more for a second opinion also bc we asked if they thought it was a good idea. they said bc they are not finding any genetics it may be a good idea even though he probably has it. but the docs called yesterday and said that his vitiman levels were good. they were shocked bc vitiman E is the hardest to control in cf and they said his was high, which is unusual. they take blood work every month to check cbc counts and for anemia. he has three blood transfusions before 4 months in the hospital and now the count is 12.5 which is really good.
we will know a lot more after this third sweat test bc our last hope is that he was so sick, it may alter the sweat test, but no one knows the answer.

 

[badjaw]

yes, they did mention nasal testing, he will be 1 yr old. but going to baltimore would be more for a second opinion also bc we asked if they thought it was a good idea. they said bc they are not finding any genetics it may be a good idea even though he probably has it. but the docs called yesterday and said that his vitiman levels were good. they were shocked bc vitiman E is the hardest to control in cf and they said his was high, which is unusual. they take blood work every month to check cbc counts and for anemia. he has three blood transfusions before 4 months in the hospital and now the count is 12.5 which is really good.
we will know a lot more after this third sweat test bc our last hope is that he was so sick, it may alter the sweat test, but no one knows the answer.

 

[badjaw]

yes, they did mention nasal testing, he will be 1 yr old. but going to baltimore would be more for a second opinion also bc we asked if they thought it was a good idea. they said bc they are not finding any genetics it may be a good idea even though he probably has it. but the docs called yesterday and said that his vitiman levels were good. they were shocked bc vitiman E is the hardest to control in cf and they said his was high, which is unusual. they take blood work every month to check cbc counts and for anemia. he has three blood transfusions before 4 months in the hospital and now the count is 12.5 which is really good.
we will know a lot more after this third sweat test bc our last hope is that he was so sick, it may alter the sweat test, but no one knows the answer.

 

[badjaw]

yes, they did mention nasal testing, he will be 1 yr old. but going to baltimore would be more for a second opinion also bc we asked if they thought it was a good idea. they said bc they are not finding any genetics it may be a good idea even though he probably has it. but the docs called yesterday and said that his vitiman levels were good. they were shocked bc vitiman E is the hardest to control in cf and they said his was high, which is unusual. they take blood work every month to check cbc counts and for anemia. he has three blood transfusions before 4 months in the hospital and now the count is 12.5 which is really good.
we will know a lot more after this third sweat test bc our last hope is that he was so sick, it may alter the sweat test, but no one knows the answer.

 

[badjaw]

yes, they did mention nasal testing, he will be 1 yr old. but going to baltimore would be more for a second opinion also bc we asked if they thought it was a good idea. they said bc they are not finding any genetics it may be a good idea even though he probably has it. but the docs called yesterday and said that his vitiman levels were good. they were shocked bc vitiman E is the hardest to control in cf and they said his was high, which is unusual. they take blood work every month to check cbc counts and for anemia. he has three blood transfusions before 4 months in the hospital and now the count is 12.5 which is really good.
we will know a lot more after this third sweat test bc our last hope is that he was so sick, it may alter the sweat test, but no one knows the answer.

 

[vmccomas]

I would like to ask you all some questions about the sweat test. My pediatrician referred my 5-year old son to be tested because he was having trouble getting over a sinus infection with some asthma implications. The first test was a 66, which shocked us all. He ordered another one, and we couldn't get enough sweat. So he ordered a third and it was a 51. So he referred us to a specialist at UVA. He does not exhibit many of the symptoms of CF and he is for the most part, healthy, with the exception of allergies and some recent asthma. Do any of you all know what all this means? We are really floored by all of this. Thanks!

 

[vmccomas]

I would like to ask you all some questions about the sweat test. My pediatrician referred my 5-year old son to be tested because he was having trouble getting over a sinus infection with some asthma implications. The first test was a 66, which shocked us all. He ordered another one, and we couldn't get enough sweat. So he ordered a third and it was a 51. So he referred us to a specialist at UVA. He does not exhibit many of the symptoms of CF and he is for the most part, healthy, with the exception of allergies and some recent asthma. Do any of you all know what all this means? We are really floored by all of this. Thanks!

 

[vmccomas]

I would like to ask you all some questions about the sweat test. My pediatrician referred my 5-year old son to be tested because he was having trouble getting over a sinus infection with some asthma implications. The first test was a 66, which shocked us all. He ordered another one, and we couldn't get enough sweat. So he ordered a third and it was a 51. So he referred us to a specialist at UVA. He does not exhibit many of the symptoms of CF and he is for the most part, healthy, with the exception of allergies and some recent asthma. Do any of you all know what all this means? We are really floored by all of this. Thanks!

 

[vmccomas]

I would like to ask you all some questions about the sweat test. My pediatrician referred my 5-year old son to be tested because he was having trouble getting over a sinus infection with some asthma implications. The first test was a 66, which shocked us all. He ordered another one, and we couldn't get enough sweat. So he ordered a third and it was a 51. So he referred us to a specialist at UVA. He does not exhibit many of the symptoms of CF and he is for the most part, healthy, with the exception of allergies and some recent asthma. Do any of you all know what all this means? We are really floored by all of this. Thanks!

 

[vmccomas]

I would like to ask you all some questions about the sweat test. My pediatrician referred my 5-year old son to be tested because he was having trouble getting over a sinus infection with some asthma implications. The first test was a 66, which shocked us all. He ordered another one, and we couldn't get enough sweat. So he ordered a third and it was a 51. So he referred us to a specialist at UVA. He does not exhibit many of the symptoms of CF and he is for the most part, healthy, with the exception of allergies and some recent asthma. Do any of you all know what all this means? We are really floored by all of this. Thanks!