Sweat Test Required?

[meteoras69]

<br>If you know that your child has two DF508 mutations, then there is no need for a sweat test; your child has CF. I was not clear from your original post if you knew that your child had only one mutation or two. If your has only one mutation that you know of, then further testing is needed. I would urge you to get complete genetics testing for all known mutations if you already know that your child has DF508. Sweat tests can turn up negative even when children do have CF; there are many rare mutations and it never hurts to be sure.......Best wishes in your search for answers.

 

[just1more]

At this point you have 3 kids that are both carriers for the most common defect causing CF.

It sounds like your son is symptomatic and your daughter could be (salt crystals in common in CF but not otherwise usually).

What *I* would do is push for the CF center to run a complete genetic panel on either child, to test for the full complement of 1500+ mutations. While his sweat test was negative, they are not 100% or even close most of the time. A vial of blood and you will know for sure one way or the other.

With the symptoms you should be able to get your son tested w/o much effort. The genetic test will be conclusive for both since same parents = same possible mutations.

Good luck.

 

[just1more]

At this point you have 3 kids that are both carriers for the most common defect causing CF.

It sounds like your son is symptomatic and your daughter could be (salt crystals in common in CF but not otherwise usually).

What *I* would do is push for the CF center to run a complete genetic panel on either child, to test for the full complement of 1500+ mutations. While his sweat test was negative, they are not 100% or even close most of the time. A vial of blood and you will know for sure one way or the other.

With the symptoms you should be able to get your son tested w/o much effort. The genetic test will be conclusive for both since same parents = same possible mutations.

Good luck.

 

[just1more]

At this point you have 3 kids that are both carriers for the most common defect causing CF.

It sounds like your son is symptomatic and your daughter could be (salt crystals in common in CF but not otherwise usually).

What *I* would do is push for the CF center to run a complete genetic panel on either child, to test for the full complement of 1500+ mutations. While his sweat test was negative, they are not 100% or even close most of the time. A vial of blood and you will know for sure one way or the other.

With the symptoms you should be able to get your son tested w/o much effort. The genetic test will be conclusive for both since same parents = same possible mutations.

Good luck.

 

[sdavis227]

Does it not bug anyone else that someone from the CF Foundation said "she didn't need a sweat test b/c the chance of their being another mutation was so small, and if there was either my husband or I would be a carrier, and thus effected with the disease"?
That statement is completely false. Carriers do not have CF and therefore do not show symptoms. It is completely likely that your child/children have two mutations and therefore have CF. Especially with the symptoms your children are showing they need to be sweat tested and also have a full panel screening.
Sorry to come off as harsh but it really bugs me that people are being so misinformed by people who should know these things!

 

[sdavis227]

Does it not bug anyone else that someone from the CF Foundation said "she didn't need a sweat test b/c the chance of their being another mutation was so small, and if there was either my husband or I would be a carrier, and thus effected with the disease"?
That statement is completely false. Carriers do not have CF and therefore do not show symptoms. It is completely likely that your child/children have two mutations and therefore have CF. Especially with the symptoms your children are showing they need to be sweat tested and also have a full panel screening.
Sorry to come off as harsh but it really bugs me that people are being so misinformed by people who should know these things!

 

[sdavis227]

Does it not bug anyone else that someone from the CF Foundation said "she didn't need a sweat test b/c the chance of their being another mutation was so small, and if there was either my husband or I would be a carrier, and thus effected with the disease"?
That statement is completely false. Carriers do not have CF and therefore do not show symptoms. It is completely likely that your child/children have two mutations and therefore have CF. Especially with the symptoms your children are showing they need to be sweat tested and also have a full panel screening.
Sorry to come off as harsh but it really bugs me that people are being so misinformed by people who should know these things!

 

[Printer]

<P>OK, I will ask you. What possible reason would you have for not having a sweat test or CF Sequencing done? In business we use what is called a cost/benefit analysis. How muchdamage couldyou inflict on this child if he/shehas CF and you ignore it.</P>
<P></P>
<P>Call your local CF Center (not your local fund raising arm of the CFF) and schedule an appointment with a REAL CF DOCTOR.Bill</P>

 

[Printer]

<P>OK, I will ask you. What possible reason would you have for not having a sweat test or CF Sequencing done? In business we use what is called a cost/benefit analysis. How muchdamage couldyou inflict on this child if he/shehas CF and you ignore it.</P>
<P></P>
<P>Call your local CF Center (not your local fund raising arm of the CFF) and schedule an appointment with a REAL CF DOCTOR.Bill</P>

 

[Printer]

<P>OK, I will ask you. What possible reason would you have for not having a sweat test or CF Sequencing done? In business we use what is called a cost/benefit analysis. How muchdamage couldyou inflict on this child if he/shehas CF and you ignore it.</P>
<P></P>
<P>Call your local CF Center (not your local fund raising arm of the CFF) and schedule an appointment with a REAL CF DOCTOR.Bill</P>

 

[imagine04]

<br>I agree with Bill. My son could have been one of those missed cases had we dismissed the initial concern that he did in fact have 1 common CF causing mutation. We instead did not want to take chances and risk his health so we did the sweat test, which is really a VERY EASY test, and once his sweat test came back positive 2 times we went ahead and pushed for further genetic testing to determine what his other mutation was. <br><br>CF is not a disease you want to sit and wait around to see what happens and being that one of your children has salt forming on the bed pillow says alot in the world of CF. <br><br>Good luck to you and your family and please seek out an accredited CF Care Center to get an expert opinion.

 

[imagine04]

<br>I agree with Bill. My son could have been one of those missed cases had we dismissed the initial concern that he did in fact have 1 common CF causing mutation. We instead did not want to take chances and risk his health so we did the sweat test, which is really a VERY EASY test, and once his sweat test came back positive 2 times we went ahead and pushed for further genetic testing to determine what his other mutation was. <br><br>CF is not a disease you want to sit and wait around to see what happens and being that one of your children has salt forming on the bed pillow says alot in the world of CF. <br><br>Good luck to you and your family and please seek out an accredited CF Care Center to get an expert opinion.

 

[imagine04]

<br>I agree with Bill. My son could have been one of those missed cases had we dismissed the initial concern that he did in fact have 1 common CF causing mutation. We instead did not want to take chances and risk his health so we did the sweat test, which is really a VERY EASY test, and once his sweat test came back positive 2 times we went ahead and pushed for further genetic testing to determine what his other mutation was. <br><br>CF is not a disease you want to sit and wait around to see what happens and being that one of your children has salt forming on the bed pillow says alot in the world of CF. <br><br>Good luck to you and your family and please seek out an accredited CF Care Center to get an expert opinion.

 

[3andahalf]

metoras69 - in reading your post I realize I have left out a vital piece of important information that would explain a lot! (I was trying to keep my question too short, I guess).

Both my husband and myself have also tested positive for the DeltaF508 Mutation. We got tested when my son had his abnormal screening in '08 (he was life flighted to another state for heart surgery they do CF testing there, when my daughter was born in '07 they didn't test for CF where I live)

So to clarify the CF Foundation lady said if there was a lesser known mutation along with the DeltaF508 my husband and I both carry..one of us would have CF. My son was sweat tested b/c my husband and I hadn't been tested at the time. Which makes sense I guess? Does this make a difference?

Bill - you are right the cost is not great..we are in the hospital all the time anyways, my kids both have other medical issues..heart defects, progressive scoliosis etc. It's just been so long since we've thought about all of this I want make sure it's absolutly necessary before I resurface it.

Thank you all for the input, it's a learning process and the more I know the more I understand it all. My daughters getting inpatient, gotta go, but thank you all I think I'll have a chat with her GP about it and I'm always open for more advice!

 

[3andahalf]

metoras69 - in reading your post I realize I have left out a vital piece of important information that would explain a lot! (I was trying to keep my question too short, I guess).

Both my husband and myself have also tested positive for the DeltaF508 Mutation. We got tested when my son had his abnormal screening in '08 (he was life flighted to another state for heart surgery they do CF testing there, when my daughter was born in '07 they didn't test for CF where I live)

So to clarify the CF Foundation lady said if there was a lesser known mutation along with the DeltaF508 my husband and I both carry..one of us would have CF. My son was sweat tested b/c my husband and I hadn't been tested at the time. Which makes sense I guess? Does this make a difference?

Bill - you are right the cost is not great..we are in the hospital all the time anyways, my kids both have other medical issues..heart defects, progressive scoliosis etc. It's just been so long since we've thought about all of this I want make sure it's absolutly necessary before I resurface it.

Thank you all for the input, it's a learning process and the more I know the more I understand it all. My daughters getting inpatient, gotta go, but thank you all I think I'll have a chat with her GP about it and I'm always open for more advice!

 

[3andahalf]

metoras69 - in reading your post I realize I have left out a vital piece of important information that would explain a lot! (I was trying to keep my question too short, I guess).

Both my husband and myself have also tested positive for the DeltaF508 Mutation. We got tested when my son had his abnormal screening in '08 (he was life flighted to another state for heart surgery they do CF testing there, when my daughter was born in '07 they didn't test for CF where I live)

So to clarify the CF Foundation lady said if there was a lesser known mutation along with the DeltaF508 my husband and I both carry..one of us would have CF. My son was sweat tested b/c my husband and I hadn't been tested at the time. Which makes sense I guess? Does this make a difference?

Bill - you are right the cost is not great..we are in the hospital all the time anyways, my kids both have other medical issues..heart defects, progressive scoliosis etc. It's just been so long since we've thought about all of this I want make sure it's absolutly necessary before I resurface it.

Thank you all for the input, it's a learning process and the more I know the more I understand it all. My daughters getting inpatient, gotta go, but thank you all I think I'll have a chat with her GP about it and I'm always open for more advice!

 

[Printer]

I feel like I'm beating a dead horse here but I'll try again. Go to an APPROVED CF CLINIC and see a REAL CF DOCTOR (not a GP or anyone else).

Bill

 

[Printer]

I feel like I'm beating a dead horse here but I'll try again. Go to an APPROVED CF CLINIC and see a REAL CF DOCTOR (not a GP or anyone else).

Bill

 

[Printer]

I feel like I'm beating a dead horse here but I'll try again. Go to an APPROVED CF CLINIC and see a REAL CF DOCTOR (not a GP or anyone else).

Bill

 

[3andahalf]

Bill - you are not beating a dead horse. We have been to an approved cf clinic, the only one in our state, which is where we got the first sweat test done. We live in a teeny tiny state and in fact only 1 doctor here treats pediatric CF. It is the same office my son goes for his cardiologist and neurologist. In order to get a referral to go to this clinic, I need to get approval from the GP first, or her health insurance won't pay and they won't even schedule an apt. without a referral. It is a first step in the process of getting a sweat test for her and perhaps a repeat for my son.