Is it possible to have a negative IRT, negative Sweat Test and still have CF?

M

MommaKas

Guest
My older daughter has suffered with symptoms since birth. In December 2009 I found out I was pregnant. They did standard tests and told me I was a CF carrier. I researched CF and realized alot of the symptoms fit my older daughter. I was told that she would've been diagnosed earlier and not to stress out about it so I let it go... long story short, her GI doctor stared testing her for CF in August of 2010. We saw the Pulmonologist for the first time Sept 1, 2010 and she had to be hospitalized on the spot due to PFT's. She was almost 11 years old. My younger daughter, who I had in July 2010, is showing a lot of the same symptoms my older daughter did when she was an infant. My younger daugter had a negative newborn screening and her Pulmonologist sent her for a sweat test. The first time she didn't sweat enough, the second time they said they weren't sure if it would be enough, but the got a result of 10, so she was said to be negative. My question is can she still have CF? No one has ordered genetic testing for her, and she continues to have symptoms much like my older daughter did. My older daughter is double DF508. Thank you for your help.
 
M

MommaKas

Guest
My older daughter has suffered with symptoms since birth. In December 2009 I found out I was pregnant. They did standard tests and told me I was a CF carrier. I researched CF and realized alot of the symptoms fit my older daughter. I was told that she would've been diagnosed earlier and not to stress out about it so I let it go... long story short, her GI doctor stared testing her for CF in August of 2010. We saw the Pulmonologist for the first time Sept 1, 2010 and she had to be hospitalized on the spot due to PFT's. She was almost 11 years old. My younger daughter, who I had in July 2010, is showing a lot of the same symptoms my older daughter did when she was an infant. My younger daugter had a negative newborn screening and her Pulmonologist sent her for a sweat test. The first time she didn't sweat enough, the second time they said they weren't sure if it would be enough, but the got a result of 10, so she was said to be negative. My question is can she still have CF? No one has ordered genetic testing for her, and she continues to have symptoms much like my older daughter did. My older daughter is double DF508. Thank you for your help.
 
M

MommaKas

Guest
My older daughter has suffered with symptoms since birth. In December 2009 I found out I was pregnant. They did standard tests and told me I was a CF carrier. I researched CF and realized alot of the symptoms fit my older daughter. I was told that she would've been diagnosed earlier and not to stress out about it so I let it go... long story short, her GI doctor stared testing her for CF in August of 2010. We saw the Pulmonologist for the first time Sept 1, 2010 and she had to be hospitalized on the spot due to PFT's. She was almost 11 years old. My younger daughter, who I had in July 2010, is showing a lot of the same symptoms my older daughter did when she was an infant. My younger daugter had a negative newborn screening and her Pulmonologist sent her for a sweat test. The first time she didn't sweat enough, the second time they said they weren't sure if it would be enough, but the got a result of 10, so she was said to be negative. My question is can she still have CF? No one has ordered genetic testing for her, and she continues to have symptoms much like my older daughter did. My older daughter is double DF508. Thank you for your help.
 
S

sdelorenzo

Guest
You shouldn't have to wonder if your younger daughter has cf! It should be clear with your older daughter being double delta 508. Call Ambry (866) 262-7943 and tell them you want your daughter tested for "508 first." It tests for just the 508 gene. It takes 3-5 days to get the results once they get your daughter's blood sample. Basically they send a test kit to your house. You fill out the form, select "508 first". Take the form to the pediatrician. Have them sign it (don't even ask them, tell them!) and include their contact information on the form. Go to a lab to get the bloodwork done, then send in the small box they sent you. I think it is done through fedex.

My three-month old daughter was tested this way right after she was born. We were very glad to find out ASAP if she had cf. We got the results back 4 business days later. She ended up not even carrying the gene! I would think it is really good news your daughter had negative newborn screening and a sweat test. It is hard to analyze a cf sibling by symptoms and know one way or the other when they are so young if they have cf.
Sharon, mom of Sophia, 9 and Jack, 7 both with cf, Grant, 2 and Paige, 3 months both without cf
 
S

sdelorenzo

Guest
You shouldn't have to wonder if your younger daughter has cf! It should be clear with your older daughter being double delta 508. Call Ambry (866) 262-7943 and tell them you want your daughter tested for "508 first." It tests for just the 508 gene. It takes 3-5 days to get the results once they get your daughter's blood sample. Basically they send a test kit to your house. You fill out the form, select "508 first". Take the form to the pediatrician. Have them sign it (don't even ask them, tell them!) and include their contact information on the form. Go to a lab to get the bloodwork done, then send in the small box they sent you. I think it is done through fedex.

My three-month old daughter was tested this way right after she was born. We were very glad to find out ASAP if she had cf. We got the results back 4 business days later. She ended up not even carrying the gene! I would think it is really good news your daughter had negative newborn screening and a sweat test. It is hard to analyze a cf sibling by symptoms and know one way or the other when they are so young if they have cf.
Sharon, mom of Sophia, 9 and Jack, 7 both with cf, Grant, 2 and Paige, 3 months both without cf
 
S

sdelorenzo

Guest
You shouldn't have to wonder if your younger daughter has cf! It should be clear with your older daughter being double delta 508. Call Ambry (866) 262-7943 and tell them you want your daughter tested for "508 first." It tests for just the 508 gene. It takes 3-5 days to get the results once they get your daughter's blood sample. Basically they send a test kit to your house. You fill out the form, select "508 first". Take the form to the pediatrician. Have them sign it (don't even ask them, tell them!) and include their contact information on the form. Go to a lab to get the bloodwork done, then send in the small box they sent you. I think it is done through fedex.
<br />
<br />My three-month old daughter was tested this way right after she was born. We were very glad to find out ASAP if she had cf. We got the results back 4 business days later. She ended up not even carrying the gene! I would think it is really good news your daughter had negative newborn screening and a sweat test. It is hard to analyze a cf sibling by symptoms and know one way or the other when they are so young if they have cf.
<br />Sharon, mom of Sophia, 9 and Jack, 7 both with cf, Grant, 2 and Paige, 3 months both without cf
 
H

hmw

New member
With your older child being a double DF508, getting your younger child ruled out genetically is the way to go, I think. Carriers can also exhibit some symptoms (we see this with our son) so finding out either way is important.

The Ambry 508 'first' tests for the DF508 gene but upon not finding that, will go on to do the Amplified test. Make sure if you go with Ambry they test for the DF508 ONLY.

The other alternative is to have the ped write a script for one of the many other inexpensive CF 'panel' tests that can be done at any local lab. They all test for the DF508 gene and don't require special orders or kits- just a routine lab form or script to bring in from the dr. Results come back pretty quick on these panels as well.

Wishing the best! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
With your older child being a double DF508, getting your younger child ruled out genetically is the way to go, I think. Carriers can also exhibit some symptoms (we see this with our son) so finding out either way is important.

The Ambry 508 'first' tests for the DF508 gene but upon not finding that, will go on to do the Amplified test. Make sure if you go with Ambry they test for the DF508 ONLY.

The other alternative is to have the ped write a script for one of the many other inexpensive CF 'panel' tests that can be done at any local lab. They all test for the DF508 gene and don't require special orders or kits- just a routine lab form or script to bring in from the dr. Results come back pretty quick on these panels as well.

Wishing the best! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
H

hmw

New member
With your older child being a double DF508, getting your younger child ruled out genetically is the way to go, I think. Carriers can also exhibit some symptoms (we see this with our son) so finding out either way is important.
<br />
<br />The Ambry 508 'first' tests for the DF508 gene but upon not finding that, will go on to do the Amplified test. Make sure if you go with Ambry they test for the DF508 ONLY.
<br />
<br />The other alternative is to have the ped write a script for one of the many other inexpensive CF 'panel' tests that can be done at any local lab. They all test for the DF508 gene and don't require special orders or kits- just a routine lab form or script to bring in from the dr. Results come back pretty quick on these panels as well.
<br />
<br />Wishing the best! <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
R

Ratatosk

Administrator
Staff member
DS' genetic testing was thru Mayo, which tested for df508 and we got the results back within about 5 days. His sweat test was done when he was 2-3 weeks old and was 32.
 
R

Ratatosk

Administrator
Staff member
DS' genetic testing was thru Mayo, which tested for df508 and we got the results back within about 5 days. His sweat test was done when he was 2-3 weeks old and was 32.
 
R

Ratatosk

Administrator
Staff member
DS' genetic testing was thru Mayo, which tested for df508 and we got the results back within about 5 days. His sweat test was done when he was 2-3 weeks old and was 32.
 
M

MommaKas

Guest
Thank you for all the input.I think the doctors just thought it would be a waste of time since her sweat test came back negative. My older daughter's pulmonologist said they can redo the sweat test and/or order some genetic testing "later on". I feel like that just leaves me hanging in regards to my youngest.... I understand that we have to focus on getting my older daughter where she needs to be, but my younger ones symptoms concern me too... The girls both used the same GI doctor, and he originally told me that my youngest was too young for a sweat test. It was the pulmonologist that ordered that.... Well their GI doctor passed away right before Christmas, so now I have to start over with a new GI doctor... I finally called my daughters pediatrician and asked if insurance will cover it without a positive sweat test, and what else could symptoms be.... My older daughter sees the new GI doctor tomorrow, but he is double booked and probably won't be able to help me with my youngest (who couldn't get an appt until Jan 17th).... Maybe I am worrying too much, but something is causing her symptoms.... with my older daughter we fought for years for diagnosis and we kept getting told it was just acid reflux or IBS.... I don't want my youngest to go thru the same thing.
 
M

MommaKas

Guest
Thank you for all the input.I think the doctors just thought it would be a waste of time since her sweat test came back negative. My older daughter's pulmonologist said they can redo the sweat test and/or order some genetic testing "later on". I feel like that just leaves me hanging in regards to my youngest.... I understand that we have to focus on getting my older daughter where she needs to be, but my younger ones symptoms concern me too... The girls both used the same GI doctor, and he originally told me that my youngest was too young for a sweat test. It was the pulmonologist that ordered that.... Well their GI doctor passed away right before Christmas, so now I have to start over with a new GI doctor... I finally called my daughters pediatrician and asked if insurance will cover it without a positive sweat test, and what else could symptoms be.... My older daughter sees the new GI doctor tomorrow, but he is double booked and probably won't be able to help me with my youngest (who couldn't get an appt until Jan 17th).... Maybe I am worrying too much, but something is causing her symptoms.... with my older daughter we fought for years for diagnosis and we kept getting told it was just acid reflux or IBS.... I don't want my youngest to go thru the same thing.
 
M

MommaKas

Guest
Thank you for all the input.I think the doctors just thought it would be a waste of time since her sweat test came back negative. My older daughter's pulmonologist said they can redo the sweat test and/or order some genetic testing "later on". I feel like that just leaves me hanging in regards to my youngest.... I understand that we have to focus on getting my older daughter where she needs to be, but my younger ones symptoms concern me too... The girls both used the same GI doctor, and he originally told me that my youngest was too young for a sweat test. It was the pulmonologist that ordered that.... Well their GI doctor passed away right before Christmas, so now I have to start over with a new GI doctor... I finally called my daughters pediatrician and asked if insurance will cover it without a positive sweat test, and what else could symptoms be.... My older daughter sees the new GI doctor tomorrow, but he is double booked and probably won't be able to help me with my youngest (who couldn't get an appt until Jan 17th).... Maybe I am worrying too much, but something is causing her symptoms.... with my older daughter we fought for years for diagnosis and we kept getting told it was just acid reflux or IBS.... I don't want my youngest to go thru the same thing.
 
H

hmw

New member
I don't blame you for not wanting to go through the same runaround trying to figure out symptoms when a simple genetic test can rule cf in or out. I would call the pediatrician and tell him/her point blank that you want a CF test done to know with 100% certainty whether or not your child has it; that it's a simple blood test and will give you peace of mind in a way that a sweat test or other more inconclusive testing cannot. Once you KNOW you can pursue other avenues of treatment as needed to address her symptoms if it's not CF, but this test can be done anywhere... your local Quest, hospital lab, etc. Knowledge is power!!

Re. your oldest~ you refer several times to her Pulmonologist and GI dr- the Pulm. she is seeing is part of a team at an accredited CF center, right? I assume that she is, but just want to verify that.
 
H

hmw

New member
I don't blame you for not wanting to go through the same runaround trying to figure out symptoms when a simple genetic test can rule cf in or out. I would call the pediatrician and tell him/her point blank that you want a CF test done to know with 100% certainty whether or not your child has it; that it's a simple blood test and will give you peace of mind in a way that a sweat test or other more inconclusive testing cannot. Once you KNOW you can pursue other avenues of treatment as needed to address her symptoms if it's not CF, but this test can be done anywhere... your local Quest, hospital lab, etc. Knowledge is power!!

Re. your oldest~ you refer several times to her Pulmonologist and GI dr- the Pulm. she is seeing is part of a team at an accredited CF center, right? I assume that she is, but just want to verify that.
 
H

hmw

New member
I don't blame you for not wanting to go through the same runaround trying to figure out symptoms when a simple genetic test can rule cf in or out. I would call the pediatrician and tell him/her point blank that you want a CF test done to know with 100% certainty whether or not your child has it; that it's a simple blood test and will give you peace of mind in a way that a sweat test or other more inconclusive testing cannot. Once you KNOW you can pursue other avenues of treatment as needed to address her symptoms if it's not CF, but this test can be done anywhere... your local Quest, hospital lab, etc. Knowledge is power!!
<br />
<br />Re. your oldest~ you refer several times to her Pulmonologist and GI dr- the Pulm. she is seeing is part of a team at an accredited CF center, right? I assume that she is, but just want to verify that.
 
M

MommaKas

Guest
Yes her Pulmonologist runs an accredited CF center. He is an EXCELLENT doctor, my daughter loves him... but because of the two negative tests he doesn't see my youngest as a patient. Most of her symptoms are GI related. Their GI doctor was wonderful too... we we're very upset about his passing away. We've heard great things about their new doctor, but my older daughter had seen their original GI doctor since she was 4... I am waiting on a call back from the girls' Pediatrician to see if she will order the blood test and if it will be covered.
 
M

MommaKas

Guest
Yes her Pulmonologist runs an accredited CF center. He is an EXCELLENT doctor, my daughter loves him... but because of the two negative tests he doesn't see my youngest as a patient. Most of her symptoms are GI related. Their GI doctor was wonderful too... we we're very upset about his passing away. We've heard great things about their new doctor, but my older daughter had seen their original GI doctor since she was 4... I am waiting on a call back from the girls' Pediatrician to see if she will order the blood test and if it will be covered.
 
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