Help!!! Cystic Fibrosis or Not

posoutlook

New member
<img src="i/expressions/face-icon-small-confused.gif" border="0">
My son is 8yrs old and in Jan 2010 after dealing with constant ENT issues adnoids and tonsils removed, several tubes, ear glue, sinus cysts and constant cough our doctor sent him for sweat test to rule out CF. I received a call later that day that he had a positive and borderline reading. We were at the Cf clinic at Pittsburgh's Childrens hospital within 48 hours. Dr. wasn't convinced with the first sweat test so he ordered another one along with genetic testing. 2nd test came back both positive. They started treating him for CF he does vest twice a day inhaler twice a day, vitamins and miralax for constipation.
His cough has been much better since vest. His genetic testing came back with all of the UNKNOWN mutations witch is very puzzling to doctor he said this has never happen.
Fast forward 8 months and now they want him to go to John Hopkins in Maryland for more testing. In preparing for this they ordered yet another sweat test. This time both came back negative. HOW DOES THIS HAPPEN? Doctors say they are so confused and don't know what to say.
I am loosing my mind over all of this does he have it or not. Don't have anyone to talk to that can possibly understand what I am going through.
I am glad to find this site maybe someone could help or atleast understand me.
 

posoutlook

New member
<img src="i/expressions/face-icon-small-confused.gif" border="0">
My son is 8yrs old and in Jan 2010 after dealing with constant ENT issues adnoids and tonsils removed, several tubes, ear glue, sinus cysts and constant cough our doctor sent him for sweat test to rule out CF. I received a call later that day that he had a positive and borderline reading. We were at the Cf clinic at Pittsburgh's Childrens hospital within 48 hours. Dr. wasn't convinced with the first sweat test so he ordered another one along with genetic testing. 2nd test came back both positive. They started treating him for CF he does vest twice a day inhaler twice a day, vitamins and miralax for constipation.
His cough has been much better since vest. His genetic testing came back with all of the UNKNOWN mutations witch is very puzzling to doctor he said this has never happen.
Fast forward 8 months and now they want him to go to John Hopkins in Maryland for more testing. In preparing for this they ordered yet another sweat test. This time both came back negative. HOW DOES THIS HAPPEN? Doctors say they are so confused and don't know what to say.
I am loosing my mind over all of this does he have it or not. Don't have anyone to talk to that can possibly understand what I am going through.
I am glad to find this site maybe someone could help or atleast understand me.
 

posoutlook

New member
<img src="i/expressions/face-icon-small-confused.gif" border="0">
<br />My son is 8yrs old and in Jan 2010 after dealing with constant ENT issues adnoids and tonsils removed, several tubes, ear glue, sinus cysts and constant cough our doctor sent him for sweat test to rule out CF. I received a call later that day that he had a positive and borderline reading. We were at the Cf clinic at Pittsburgh's Childrens hospital within 48 hours. Dr. wasn't convinced with the first sweat test so he ordered another one along with genetic testing. 2nd test came back both positive. They started treating him for CF he does vest twice a day inhaler twice a day, vitamins and miralax for constipation.
<br />His cough has been much better since vest. His genetic testing came back with all of the UNKNOWN mutations witch is very puzzling to doctor he said this has never happen.
<br />Fast forward 8 months and now they want him to go to John Hopkins in Maryland for more testing. In preparing for this they ordered yet another sweat test. This time both came back negative. HOW DOES THIS HAPPEN? Doctors say they are so confused and don't know what to say.
<br />I am loosing my mind over all of this does he have it or not. Don't have anyone to talk to that can possibly understand what I am going through.
<br />I am glad to find this site maybe someone could help or atleast understand me.
 

hmw

New member
There is more than one way to test for CF and I'm a little unclear how he was tested genetically based on your post. Did he have Ambry Amplified or another <b>genetic sequencing test</b> and no identified mutations found on that, or did he have a <b>panel test</b> (i.e. looking for 100ish mutations) and results came back with no identified mutations on the panel?

What were the numbers on his latest round of sweat tests? I can certainly understand your confusion. His initial positive sweat tests, concerning symptoms and subsequent improvement when started on appropriate treatment can't be discounted; I hope you get more answers.
 

hmw

New member
There is more than one way to test for CF and I'm a little unclear how he was tested genetically based on your post. Did he have Ambry Amplified or another <b>genetic sequencing test</b> and no identified mutations found on that, or did he have a <b>panel test</b> (i.e. looking for 100ish mutations) and results came back with no identified mutations on the panel?

What were the numbers on his latest round of sweat tests? I can certainly understand your confusion. His initial positive sweat tests, concerning symptoms and subsequent improvement when started on appropriate treatment can't be discounted; I hope you get more answers.
 

hmw

New member
There is more than one way to test for CF and I'm a little unclear how he was tested genetically based on your post. Did he have Ambry Amplified or another <b>genetic sequencing test</b> and no identified mutations found on that, or did he have a <b>panel test</b> (i.e. looking for 100ish mutations) and results came back with no identified mutations on the panel?
<br />
<br />What were the numbers on his latest round of sweat tests? I can certainly understand your confusion. His initial positive sweat tests, concerning symptoms and subsequent improvement when started on appropriate treatment can't be discounted; I hope you get more answers.
 

posoutlook

New member
To be honest I am not sure what genetic test was done I just know it took about 7 weeks to get the results and Luke's doctor told me that it came back with all unknown mutations.This past year has been so overwhelming to me.
His sweat test results were
1st time 48 and 64
2nd time 68 and 64
3rd time 24 and 30
my understanding is that a person can't go from negative to positive or from positive to negative. I just got the past results on Thursday hopefully I get more of an explanation on Monday.
 

posoutlook

New member
To be honest I am not sure what genetic test was done I just know it took about 7 weeks to get the results and Luke's doctor told me that it came back with all unknown mutations.This past year has been so overwhelming to me.
His sweat test results were
1st time 48 and 64
2nd time 68 and 64
3rd time 24 and 30
my understanding is that a person can't go from negative to positive or from positive to negative. I just got the past results on Thursday hopefully I get more of an explanation on Monday.
 

posoutlook

New member
To be honest I am not sure what genetic test was done I just know it took about 7 weeks to get the results and Luke's doctor told me that it came back with all unknown mutations.This past year has been so overwhelming to me.
<br />His sweat test results were
<br />1st time 48 and 64
<br />2nd time 68 and 64
<br />3rd time 24 and 30
<br />my understanding is that a person can't go from negative to positive or from positive to negative. I just got the past results on Thursday hopefully I get more of an explanation on Monday.
 

hmw

New member
Were all 3 of his sweat tests done at the same CF-center lab?

What I would do is ask for a copy of the report from the genetic testing. If they won't give it to you on the spot due to wanting a release for giving records or some such nonsense, ask for and write down:
1. The name of the lab it was sent to
2. whether it was genetic sequencing or a panel test- some labs, such as Mayo and Quest, do both types of test.
3. the exact results ('all unknown mutations' is rather vague. Ask for them to give you the exact term used on the report.) Then we can help you more here. <img src="i/expressions/face-icon-small-smile.gif" border="0">

I would share your concern/confusion as well about the latest sweat test results. One set of negatives certainly doesn't negate all his symptoms so it bears more investigating. I hope Monday's appt yields information.
 

hmw

New member
Were all 3 of his sweat tests done at the same CF-center lab?

What I would do is ask for a copy of the report from the genetic testing. If they won't give it to you on the spot due to wanting a release for giving records or some such nonsense, ask for and write down:
1. The name of the lab it was sent to
2. whether it was genetic sequencing or a panel test- some labs, such as Mayo and Quest, do both types of test.
3. the exact results ('all unknown mutations' is rather vague. Ask for them to give you the exact term used on the report.) Then we can help you more here. <img src="i/expressions/face-icon-small-smile.gif" border="0">

I would share your concern/confusion as well about the latest sweat test results. One set of negatives certainly doesn't negate all his symptoms so it bears more investigating. I hope Monday's appt yields information.
 

hmw

New member
Were all 3 of his sweat tests done at the same CF-center lab?
<br />
<br />What I would do is ask for a copy of the report from the genetic testing. If they won't give it to you on the spot due to wanting a release for giving records or some such nonsense, ask for and write down:
<br />1. The name of the lab it was sent to
<br />2. whether it was genetic sequencing or a panel test- some labs, such as Mayo and Quest, do both types of test.
<br />3. the exact results ('all unknown mutations' is rather vague. Ask for them to give you the exact term used on the report.) Then we can help you more here. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />I would share your concern/confusion as well about the latest sweat test results. One set of negatives certainly doesn't negate all his symptoms so it bears more investigating. I hope Monday's appt yields information.
 
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