44/43 sweat test results.......lots of questions???????

[H2OSPORTSMOM]

clawson5104 I have just come across your topic. My 18 year old son had sweat tests of 64,57 non CF Center and 55 at CF Center in May. We had him tested for 70 common genes resuts negative. However I am as confused as you were during your journey. His results read ...This result does not exclude a diagnosis of CF, It is possible that this patient has one or even two mutation(s) , not detected by this test. Then after listing the 70 he is negative for it reads.....Variants avaiable for testing are intron 8 5/7/9T (reflex from R117H) , I148T, I1506V, I1507V,F508C.
Have you learned anymore about these variant genes?? Do you have anything to share about what my next step should be? I have posted in the adult and newly diagnised forums searching for answers. As a mom you know when your child's health is not quite right. I saw you son's pic and he is gorgeous! Thanks for any info. you have?? I also have a 20 year old daughter - healthy no tests done, waiting on son's results.

 

[H2OSPORTSMOM]

clawson5104 I have just come across your topic. My 18 year old son had sweat tests of 64,57 non CF Center and 55 at CF Center in May. We had him tested for 70 common genes resuts negative. However I am as confused as you were during your journey. His results read ...This result does not exclude a diagnosis of CF, It is possible that this patient has one or even two mutation(s) , not detected by this test. Then after listing the 70 he is negative for it reads.....Variants avaiable for testing are intron 8 5/7/9T (reflex from R117H) , I148T, I1506V, I1507V,F508C.
Have you learned anymore about these variant genes?? Do you have anything to share about what my next step should be? I have posted in the adult and newly diagnised forums searching for answers. As a mom you know when your child's health is not quite right. I saw you son's pic and he is gorgeous! Thanks for any info. you have?? I also have a 20 year old daughter - healthy no tests done, waiting on son's results.

 

[H2OSPORTSMOM]

clawson5104 I have just come across your topic. My 18 year old son had sweat tests of 64,57 non CF Center and 55 at CF Center in May. We had him tested for 70 common genes resuts negative. However I am as confused as you were during your journey. His results read ...This result does not exclude a diagnosis of CF, It is possible that this patient has one or even two mutation(s) , not detected by this test. Then after listing the 70 he is negative for it reads.....Variants avaiable for testing are intron 8 5/7/9T (reflex from R117H) , I148T, I1506V, I1507V,F508C.
Have you learned anymore about these variant genes?? Do you have anything to share about what my next step should be? I have posted in the adult and newly diagnised forums searching for answers. As a mom you know when your child's health is not quite right. I saw you son's pic and he is gorgeous! Thanks for any info. you have?? I also have a 20 year old daughter - healthy no tests done, waiting on son's results.

 

[H2OSPORTSMOM]

clawson5104 I have just come across your topic. My 18 year old son had sweat tests of 64,57 non CF Center and 55 at CF Center in May. We had him tested for 70 common genes resuts negative. However I am as confused as you were during your journey. His results read ...This result does not exclude a diagnosis of CF, It is possible that this patient has one or even two mutation(s) , not detected by this test. Then after listing the 70 he is negative for it reads.....Variants avaiable for testing are intron 8 5/7/9T (reflex from R117H) , I148T, I1506V, I1507V,F508C.
Have you learned anymore about these variant genes?? Do you have anything to share about what my next step should be? I have posted in the adult and newly diagnised forums searching for answers. As a mom you know when your child's health is not quite right. I saw you son's pic and he is gorgeous! Thanks for any info. you have?? I also have a 20 year old daughter - healthy no tests done, waiting on son's results.

 

[H2OSPORTSMOM]

clawson5104 I have just come across your topic. My 18 year old son had sweat tests of 64,57 non CF Center and 55 at CF Center in May. We had him tested for 70 common genes resuts negative. However I am as confused as you were during your journey. His results read ...This result does not exclude a diagnosis of CF, It is possible that this patient has one or even two mutation(s) , not detected by this test. Then after listing the 70 he is negative for it reads.....Variants avaiable for testing are intron 8 5/7/9T (reflex from R117H) , I148T, I1506V, I1507V,F508C.
Have you learned anymore about these variant genes?? Do you have anything to share about what my next step should be? I have posted in the adult and newly diagnised forums searching for answers. As a mom you know when your child's health is not quite right. I saw you son's pic and he is gorgeous! Thanks for any info. you have?? I also have a 20 year old daughter - healthy no tests done, waiting on son's results.

 

[H2OSPORTSMOM]

clawson5104 I have just come across your topic. My 18 year old son had sweat tests of 64,57 non CF Center and 55 at CF Center in May. We had him tested for 70 common genes resuts negative. However I am as confused as you were during your journey. His results read ...This result does not exclude a diagnosis of CF, It is possible that this patient has one or even two mutation(s) , not detected by this test. Then after listing the 70 he is negative for it reads.....Variants avaiable for testing are intron 8 5/7/9T (reflex from R117H) , I148T, I1506V, I1507V,F508C.
Have you learned anymore about these variant genes?? Do you have anything to share about what my next step should be? I have posted in the adult and newly diagnised forums searching for answers. As a mom you know when your child's health is not quite right. I saw you son's pic and he is gorgeous! Thanks for any info. you have?? I also have a 20 year old daughter - healthy no tests done, waiting on son's results.

 

[clawson5104]

Liza......I thought it would be Vitamin K too, but his labs came okay on it. it's been a while, and they are gonna retest vitamin levels in September now that he is eating. but if he continues to have regular nose bleeds they will have to do it sooner. I understand the CPT issue. but seriously, there is absolutely no holding him down. when have done this for 6 weeks morning and night with no accomplishment EVER. maybe 5 minutes on one spot. i know when i am "comforting" him or just walking with him and pat him VERY hard in all the right spots....just to get even a few minutes in. but DH and other 3 sons have tried along with me to make this happen and it just is not happening. he cant get a vest without doc, and she doesn't feel he needs it. she said keep him swimming. huge difference since summer started as far as his lungs go.

I am also cringing with the mild case..... I mean, I know he is not as sick as alot of CFers. but when he does get sick......he really gets sick and it lingers for so long. and i have read about "mild" cases......turning into lung transplants because of improper care. I really dont know how to feel ......I know I have been so wrapped up in getting him diagnosed that I forgot to let him be a kid. which now I am doing regardless. I want him to have good memories whether he lives to 30 or 80. so taking precautions, but not placing him in a bubble so to speak.

His doc is giving him the CF diagnosis to make sure he receives his meds....etc. without any trouble, and to make sure local hospitals don't blow me off with viral stuff without actually checking him out good. (which is a HUGE problem here) and they told me if it would still happen just give them a call, they'd take care of everything. but technically they still just consider him atypical, symptomatic...whatever. and now that he is eating and more active (summer time) he is not having as many symptoms. other than his weight.

thanks so much though.........btw....ur son has only one mutation?? any variants or anything? what kind of symptoms does he have ? sorry, i am still learning. and yet trying to understand at the same time.......true blonde i suppose.....thanks again

 

[clawson5104]

Liza......I thought it would be Vitamin K too, but his labs came okay on it. it's been a while, and they are gonna retest vitamin levels in September now that he is eating. but if he continues to have regular nose bleeds they will have to do it sooner. I understand the CPT issue. but seriously, there is absolutely no holding him down. when have done this for 6 weeks morning and night with no accomplishment EVER. maybe 5 minutes on one spot. i know when i am "comforting" him or just walking with him and pat him VERY hard in all the right spots....just to get even a few minutes in. but DH and other 3 sons have tried along with me to make this happen and it just is not happening. he cant get a vest without doc, and she doesn't feel he needs it. she said keep him swimming. huge difference since summer started as far as his lungs go.

I am also cringing with the mild case..... I mean, I know he is not as sick as alot of CFers. but when he does get sick......he really gets sick and it lingers for so long. and i have read about "mild" cases......turning into lung transplants because of improper care. I really dont know how to feel ......I know I have been so wrapped up in getting him diagnosed that I forgot to let him be a kid. which now I am doing regardless. I want him to have good memories whether he lives to 30 or 80. so taking precautions, but not placing him in a bubble so to speak.

His doc is giving him the CF diagnosis to make sure he receives his meds....etc. without any trouble, and to make sure local hospitals don't blow me off with viral stuff without actually checking him out good. (which is a HUGE problem here) and they told me if it would still happen just give them a call, they'd take care of everything. but technically they still just consider him atypical, symptomatic...whatever. and now that he is eating and more active (summer time) he is not having as many symptoms. other than his weight.

thanks so much though.........btw....ur son has only one mutation?? any variants or anything? what kind of symptoms does he have ? sorry, i am still learning. and yet trying to understand at the same time.......true blonde i suppose.....thanks again

 

[clawson5104]

Liza......I thought it would be Vitamin K too, but his labs came okay on it. it's been a while, and they are gonna retest vitamin levels in September now that he is eating. but if he continues to have regular nose bleeds they will have to do it sooner. I understand the CPT issue. but seriously, there is absolutely no holding him down. when have done this for 6 weeks morning and night with no accomplishment EVER. maybe 5 minutes on one spot. i know when i am "comforting" him or just walking with him and pat him VERY hard in all the right spots....just to get even a few minutes in. but DH and other 3 sons have tried along with me to make this happen and it just is not happening. he cant get a vest without doc, and she doesn't feel he needs it. she said keep him swimming. huge difference since summer started as far as his lungs go.

I am also cringing with the mild case..... I mean, I know he is not as sick as alot of CFers. but when he does get sick......he really gets sick and it lingers for so long. and i have read about "mild" cases......turning into lung transplants because of improper care. I really dont know how to feel ......I know I have been so wrapped up in getting him diagnosed that I forgot to let him be a kid. which now I am doing regardless. I want him to have good memories whether he lives to 30 or 80. so taking precautions, but not placing him in a bubble so to speak.

His doc is giving him the CF diagnosis to make sure he receives his meds....etc. without any trouble, and to make sure local hospitals don't blow me off with viral stuff without actually checking him out good. (which is a HUGE problem here) and they told me if it would still happen just give them a call, they'd take care of everything. but technically they still just consider him atypical, symptomatic...whatever. and now that he is eating and more active (summer time) he is not having as many symptoms. other than his weight.

thanks so much though.........btw....ur son has only one mutation?? any variants or anything? what kind of symptoms does he have ? sorry, i am still learning. and yet trying to understand at the same time.......true blonde i suppose.....thanks again

 

[clawson5104]

Liza......I thought it would be Vitamin K too, but his labs came okay on it. it's been a while, and they are gonna retest vitamin levels in September now that he is eating. but if he continues to have regular nose bleeds they will have to do it sooner. I understand the CPT issue. but seriously, there is absolutely no holding him down. when have done this for 6 weeks morning and night with no accomplishment EVER. maybe 5 minutes on one spot. i know when i am "comforting" him or just walking with him and pat him VERY hard in all the right spots....just to get even a few minutes in. but DH and other 3 sons have tried along with me to make this happen and it just is not happening. he cant get a vest without doc, and she doesn't feel he needs it. she said keep him swimming. huge difference since summer started as far as his lungs go.

I am also cringing with the mild case..... I mean, I know he is not as sick as alot of CFers. but when he does get sick......he really gets sick and it lingers for so long. and i have read about "mild" cases......turning into lung transplants because of improper care. I really dont know how to feel ......I know I have been so wrapped up in getting him diagnosed that I forgot to let him be a kid. which now I am doing regardless. I want him to have good memories whether he lives to 30 or 80. so taking precautions, but not placing him in a bubble so to speak.

His doc is giving him the CF diagnosis to make sure he receives his meds....etc. without any trouble, and to make sure local hospitals don't blow me off with viral stuff without actually checking him out good. (which is a HUGE problem here) and they told me if it would still happen just give them a call, they'd take care of everything. but technically they still just consider him atypical, symptomatic...whatever. and now that he is eating and more active (summer time) he is not having as many symptoms. other than his weight.

thanks so much though.........btw....ur son has only one mutation?? any variants or anything? what kind of symptoms does he have ? sorry, i am still learning. and yet trying to understand at the same time.......true blonde i suppose.....thanks again

 

[clawson5104]

Liza......I thought it would be Vitamin K too, but his labs came okay on it. it's been a while, and they are gonna retest vitamin levels in September now that he is eating. but if he continues to have regular nose bleeds they will have to do it sooner. I understand the CPT issue. but seriously, there is absolutely no holding him down. when have done this for 6 weeks morning and night with no accomplishment EVER. maybe 5 minutes on one spot. i know when i am "comforting" him or just walking with him and pat him VERY hard in all the right spots....just to get even a few minutes in. but DH and other 3 sons have tried along with me to make this happen and it just is not happening. he cant get a vest without doc, and she doesn't feel he needs it. she said keep him swimming. huge difference since summer started as far as his lungs go.

I am also cringing with the mild case..... I mean, I know he is not as sick as alot of CFers. but when he does get sick......he really gets sick and it lingers for so long. and i have read about "mild" cases......turning into lung transplants because of improper care. I really dont know how to feel ......I know I have been so wrapped up in getting him diagnosed that I forgot to let him be a kid. which now I am doing regardless. I want him to have good memories whether he lives to 30 or 80. so taking precautions, but not placing him in a bubble so to speak.

His doc is giving him the CF diagnosis to make sure he receives his meds....etc. without any trouble, and to make sure local hospitals don't blow me off with viral stuff without actually checking him out good. (which is a HUGE problem here) and they told me if it would still happen just give them a call, they'd take care of everything. but technically they still just consider him atypical, symptomatic...whatever. and now that he is eating and more active (summer time) he is not having as many symptoms. other than his weight.

thanks so much though.........btw....ur son has only one mutation?? any variants or anything? what kind of symptoms does he have ? sorry, i am still learning. and yet trying to understand at the same time.......true blonde i suppose.....thanks again

 

[clawson5104]

Liza......I thought it would be Vitamin K too, but his labs came okay on it. it's been a while, and they are gonna retest vitamin levels in September now that he is eating. but if he continues to have regular nose bleeds they will have to do it sooner. I understand the CPT issue. but seriously, there is absolutely no holding him down. when have done this for 6 weeks morning and night with no accomplishment EVER. maybe 5 minutes on one spot. i know when i am "comforting" him or just walking with him and pat him VERY hard in all the right spots....just to get even a few minutes in. but DH and other 3 sons have tried along with me to make this happen and it just is not happening. he cant get a vest without doc, and she doesn't feel he needs it. she said keep him swimming. huge difference since summer started as far as his lungs go.

I am also cringing with the mild case..... I mean, I know he is not as sick as alot of CFers. but when he does get sick......he really gets sick and it lingers for so long. and i have read about "mild" cases......turning into lung transplants because of improper care. I really dont know how to feel ......I know I have been so wrapped up in getting him diagnosed that I forgot to let him be a kid. which now I am doing regardless. I want him to have good memories whether he lives to 30 or 80. so taking precautions, but not placing him in a bubble so to speak.

His doc is giving him the CF diagnosis to make sure he receives his meds....etc. without any trouble, and to make sure local hospitals don't blow me off with viral stuff without actually checking him out good. (which is a HUGE problem here) and they told me if it would still happen just give them a call, they'd take care of everything. but technically they still just consider him atypical, symptomatic...whatever. and now that he is eating and more active (summer time) he is not having as many symptoms. other than his weight.

thanks so much though.........btw....ur son has only one mutation?? any variants or anything? what kind of symptoms does he have ? sorry, i am still learning. and yet trying to understand at the same time.......true blonde i suppose.....thanks again

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.

 

[clawson5104]

Oh yeah, H20sportsmom........i sent u a private message.....i think i took up enough space ...lol.