GOING CRAZY!! NEED HELP!!

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Zakarymom

New member
I have a 13 month old son named Zakary. He went in for his sweat test on Wed of this week. Today we hear back from the doctor that his test will need to be repeated due to the fact there was not enough sweat. He is supposed to have 79 something and only had like 49. I am not sure excactly what they mean but I know he didn't sweat enough. My question is does this having any meaning. I did request rather then doing another sweat test that we do genetic testing. Although I am not excactly sure what that intells. What I have gathered is a blood test or swab test, is this right? It just seems like this is ongoing and my husband and are just going crazy not knowing the "for sure" anwser. I knwo you all know excactly how that is. I just wanted some advice. I am just rather nervous about the results we heard today because she clearly stated that it was bad news and they also have talked to me about treatment therapy. I just WANT TO KNOW CF or no CF! Any help good or bad thoughts would be greatly appriciated!
Thanks Everyone!
 
Z

Zakarymom

New member
I have a 13 month old son named Zakary. He went in for his sweat test on Wed of this week. Today we hear back from the doctor that his test will need to be repeated due to the fact there was not enough sweat. He is supposed to have 79 something and only had like 49. I am not sure excactly what they mean but I know he didn't sweat enough. My question is does this having any meaning. I did request rather then doing another sweat test that we do genetic testing. Although I am not excactly sure what that intells. What I have gathered is a blood test or swab test, is this right? It just seems like this is ongoing and my husband and are just going crazy not knowing the "for sure" anwser. I knwo you all know excactly how that is. I just wanted some advice. I am just rather nervous about the results we heard today because she clearly stated that it was bad news and they also have talked to me about treatment therapy. I just WANT TO KNOW CF or no CF! Any help good or bad thoughts would be greatly appriciated!
Thanks Everyone!
 
Z

Zakarymom

New member
I have a 13 month old son named Zakary. He went in for his sweat test on Wed of this week. Today we hear back from the doctor that his test will need to be repeated due to the fact there was not enough sweat. He is supposed to have 79 something and only had like 49. I am not sure excactly what they mean but I know he didn't sweat enough. My question is does this having any meaning. I did request rather then doing another sweat test that we do genetic testing. Although I am not excactly sure what that intells. What I have gathered is a blood test or swab test, is this right? It just seems like this is ongoing and my husband and are just going crazy not knowing the "for sure" anwser. I knwo you all know excactly how that is. I just wanted some advice. I am just rather nervous about the results we heard today because she clearly stated that it was bad news and they also have talked to me about treatment therapy. I just WANT TO KNOW CF or no CF! Any help good or bad thoughts would be greatly appriciated!
Thanks Everyone!
 
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Emily65Roses

New member
Not getting enough sweat doesn't mean much, that happens to a lot of the people they sweat test, especially (it seems), the younger ones.

Good idea to suggest a genetic test. I would, in fact, push for one of those because they are far more definitive. Many CFers here have gotten false negatives on sweat tests. You're better off just doing a genetic test. Having said that, you want to make sure the test you're getting isn't the very basic panel (25-30 genes), because it's too small. There are over 1,000 CF genes, and if you're going to have him tested, he needs to have (at least to start) the second panel they do (not as basic) that includes somewhere between 80-90 genes. If that comes back negative and you still have reason to think he has CF (why is he being tested, by the way?), then you want to push for a full panel. But don't do that unless you get desperate, because it'll take a lot to make the insurance pay for it (it's very expensive to test for every single gene as there are so many).

As for what it entails, I honestly don't know. I had my genetic testing done when I was 5 originally, and back then it was done with blood. They knew I had CF, but the gene my father had given me was very rare back then (now it's in the 80-90 panel), so it didn't have a name in 1989. Then I went back for another genetic test about a year ago to find out the name of my other mutation (I was getting them tattooed on me and needed to know the names) and that was done simply by swishing some mouth wash, and then spitting it into a vial. My doc then sent off the vial and that's how it was done. Using my best guess, I'd say now a days they use simpler testing methods like swabs or "swish n spits" because it's easier than blood work.
 
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Emily65Roses

New member
Not getting enough sweat doesn't mean much, that happens to a lot of the people they sweat test, especially (it seems), the younger ones.

Good idea to suggest a genetic test. I would, in fact, push for one of those because they are far more definitive. Many CFers here have gotten false negatives on sweat tests. You're better off just doing a genetic test. Having said that, you want to make sure the test you're getting isn't the very basic panel (25-30 genes), because it's too small. There are over 1,000 CF genes, and if you're going to have him tested, he needs to have (at least to start) the second panel they do (not as basic) that includes somewhere between 80-90 genes. If that comes back negative and you still have reason to think he has CF (why is he being tested, by the way?), then you want to push for a full panel. But don't do that unless you get desperate, because it'll take a lot to make the insurance pay for it (it's very expensive to test for every single gene as there are so many).

As for what it entails, I honestly don't know. I had my genetic testing done when I was 5 originally, and back then it was done with blood. They knew I had CF, but the gene my father had given me was very rare back then (now it's in the 80-90 panel), so it didn't have a name in 1989. Then I went back for another genetic test about a year ago to find out the name of my other mutation (I was getting them tattooed on me and needed to know the names) and that was done simply by swishing some mouth wash, and then spitting it into a vial. My doc then sent off the vial and that's how it was done. Using my best guess, I'd say now a days they use simpler testing methods like swabs or "swish n spits" because it's easier than blood work.
 
E

Emily65Roses

New member
Not getting enough sweat doesn't mean much, that happens to a lot of the people they sweat test, especially (it seems), the younger ones.

Good idea to suggest a genetic test. I would, in fact, push for one of those because they are far more definitive. Many CFers here have gotten false negatives on sweat tests. You're better off just doing a genetic test. Having said that, you want to make sure the test you're getting isn't the very basic panel (25-30 genes), because it's too small. There are over 1,000 CF genes, and if you're going to have him tested, he needs to have (at least to start) the second panel they do (not as basic) that includes somewhere between 80-90 genes. If that comes back negative and you still have reason to think he has CF (why is he being tested, by the way?), then you want to push for a full panel. But don't do that unless you get desperate, because it'll take a lot to make the insurance pay for it (it's very expensive to test for every single gene as there are so many).

As for what it entails, I honestly don't know. I had my genetic testing done when I was 5 originally, and back then it was done with blood. They knew I had CF, but the gene my father had given me was very rare back then (now it's in the 80-90 panel), so it didn't have a name in 1989. Then I went back for another genetic test about a year ago to find out the name of my other mutation (I was getting them tattooed on me and needed to know the names) and that was done simply by swishing some mouth wash, and then spitting it into a vial. My doc then sent off the vial and that's how it was done. Using my best guess, I'd say now a days they use simpler testing methods like swabs or "swish n spits" because it's easier than blood work.
 
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OperaMama

New member
If they have cause to do a sweat test, let 'em do the blood work. It's VERY important, as you will learn from the notes and blogs here, to get the FULL panel from a CF-affiliated (is Ambry the only one?) lab. It is a blood draw, but there is a little numbing topical cream that can be applied half an hour before so that the needle isn't quite as irksome. A lollipop really helps in these situations. GOOD LUCK.
 
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OperaMama

New member
If they have cause to do a sweat test, let 'em do the blood work. It's VERY important, as you will learn from the notes and blogs here, to get the FULL panel from a CF-affiliated (is Ambry the only one?) lab. It is a blood draw, but there is a little numbing topical cream that can be applied half an hour before so that the needle isn't quite as irksome. A lollipop really helps in these situations. GOOD LUCK.
 
O

OperaMama

New member
If they have cause to do a sweat test, let 'em do the blood work. It's VERY important, as you will learn from the notes and blogs here, to get the FULL panel from a CF-affiliated (is Ambry the only one?) lab. It is a blood draw, but there is a little numbing topical cream that can be applied half an hour before so that the needle isn't quite as irksome. A lollipop really helps in these situations. GOOD LUCK.
 
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