IRT levels

[tcb121]

Just doing some research on CF since our daughter was flagged as "screen positive" here in Maryland. I have done much research and feel confident that she does not have CF, but would like some feedback from those of you who have been through this process before me:

1). Our Daughter "Ella Hope" had an IRT of 139. Here in the state of Maryland any newborn with an IRT over 90 gets flagged for more testing.

2). She tested positive for the f508 gene and that is why she will be going for the sweat test next week.

3). She was a 9 9 apgar and was back to her birth weight 1 week after she was born.

4). Her poo looks normal from what I can tell, and it does not smell foul or look oily.

5). She does not "taste salty" if that makes sense, and from all accounts she is a happy growing baby.

6). Neither me nor my wife have a family history of CF.

From what I can tell she would not have even been flagged a few years ago because the IRT level used to be anything over 180. I also found information that suggests really high levels of IRT have a much higher chance of having CF. Here is the link:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
TABLE 4. IRT Level as a Predictor of CF in Infants With
Positive IRT/DNA (DF508) Screen*

IRT Level No. CF/No Infants CF Risk %
(ng/mL)

100 to 139 ---- 2/1404 ----- 0
140 to 179 ---- 1/387 ----- 0.25 (0 to 0.7)
180 to 219 ---- 12/333 ----- 3.6 (1.6 to 5.6)
220 to 259 ---- 13/122 ----- 10.7 (5.2 to 16.2)
260 to 299 ---- 11/59 ----- 18.6 (8.7 to 28.5)
.300 ---- 20/83 ----- 24.1 (14.9 to 33.3)


So looking at our situation she is in a very low risk category. Essentially 0% change.

So what I'm asking is what IRT levels did your children have and does it mesh with what the chart above reads?

Did you see the symptoms ( Oily poo, salty, failure to gain weight ....etc) or was everything normal but still had CF?

Any feedback you could give me would be great. We are concerned but looking on the positive side.


Thanks.

 

[tcb121]

Just doing some research on CF since our daughter was flagged as "screen positive" here in Maryland. I have done much research and feel confident that she does not have CF, but would like some feedback from those of you who have been through this process before me:

1). Our Daughter "Ella Hope" had an IRT of 139. Here in the state of Maryland any newborn with an IRT over 90 gets flagged for more testing.

2). She tested positive for the f508 gene and that is why she will be going for the sweat test next week.

3). She was a 9 9 apgar and was back to her birth weight 1 week after she was born.

4). Her poo looks normal from what I can tell, and it does not smell foul or look oily.

5). She does not "taste salty" if that makes sense, and from all accounts she is a happy growing baby.

6). Neither me nor my wife have a family history of CF.

From what I can tell she would not have even been flagged a few years ago because the IRT level used to be anything over 180. I also found information that suggests really high levels of IRT have a much higher chance of having CF. Here is the link:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
TABLE 4. IRT Level as a Predictor of CF in Infants With
Positive IRT/DNA (DF508) Screen*

IRT Level No. CF/No Infants CF Risk %
(ng/mL)

100 to 139 ---- 2/1404 ----- 0
140 to 179 ---- 1/387 ----- 0.25 (0 to 0.7)
180 to 219 ---- 12/333 ----- 3.6 (1.6 to 5.6)
220 to 259 ---- 13/122 ----- 10.7 (5.2 to 16.2)
260 to 299 ---- 11/59 ----- 18.6 (8.7 to 28.5)
.300 ---- 20/83 ----- 24.1 (14.9 to 33.3)


So looking at our situation she is in a very low risk category. Essentially 0% change.

So what I'm asking is what IRT levels did your children have and does it mesh with what the chart above reads?

Did you see the symptoms ( Oily poo, salty, failure to gain weight ....etc) or was everything normal but still had CF?

Any feedback you could give me would be great. We are concerned but looking on the positive side.


Thanks.

 

[tcb121]

Just doing some research on CF since our daughter was flagged as "screen positive" here in Maryland. I have done much research and feel confident that she does not have CF, but would like some feedback from those of you who have been through this process before me:

1). Our Daughter "Ella Hope" had an IRT of 139. Here in the state of Maryland any newborn with an IRT over 90 gets flagged for more testing.

2). She tested positive for the f508 gene and that is why she will be going for the sweat test next week.

3). She was a 9 9 apgar and was back to her birth weight 1 week after she was born.

4). Her poo looks normal from what I can tell, and it does not smell foul or look oily.

5). She does not "taste salty" if that makes sense, and from all accounts she is a happy growing baby.

6). Neither me nor my wife have a family history of CF.

From what I can tell she would not have even been flagged a few years ago because the IRT level used to be anything over 180. I also found information that suggests really high levels of IRT have a much higher chance of having CF. Here is the link:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
TABLE 4. IRT Level as a Predictor of CF in Infants With
Positive IRT/DNA (DF508) Screen*

IRT Level No. CF/No Infants CF Risk %
(ng/mL)

100 to 139 ---- 2/1404 ----- 0
140 to 179 ---- 1/387 ----- 0.25 (0 to 0.7)
180 to 219 ---- 12/333 ----- 3.6 (1.6 to 5.6)
220 to 259 ---- 13/122 ----- 10.7 (5.2 to 16.2)
260 to 299 ---- 11/59 ----- 18.6 (8.7 to 28.5)
.300 ---- 20/83 ----- 24.1 (14.9 to 33.3)


So looking at our situation she is in a very low risk category. Essentially 0% change.

So what I'm asking is what IRT levels did your children have and does it mesh with what the chart above reads?

Did you see the symptoms ( Oily poo, salty, failure to gain weight ....etc) or was everything normal but still had CF?

Any feedback you could give me would be great. We are concerned but looking on the positive side.


Thanks.

 

[tcb121]

Just doing some research on CF since our daughter was flagged as "screen positive" here in Maryland. I have done much research and feel confident that she does not have CF, but would like some feedback from those of you who have been through this process before me:

1). Our Daughter "Ella Hope" had an IRT of 139. Here in the state of Maryland any newborn with an IRT over 90 gets flagged for more testing.

2). She tested positive for the f508 gene and that is why she will be going for the sweat test next week.

3). She was a 9 9 apgar and was back to her birth weight 1 week after she was born.

4). Her poo looks normal from what I can tell, and it does not smell foul or look oily.

5). She does not "taste salty" if that makes sense, and from all accounts she is a happy growing baby.

6). Neither me nor my wife have a family history of CF.

From what I can tell she would not have even been flagged a few years ago because the IRT level used to be anything over 180. I also found information that suggests really high levels of IRT have a much higher chance of having CF. Here is the link:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a>
TABLE 4. IRT Level as a Predictor of CF in Infants With
Positive IRT/DNA (DF508) Screen*

IRT Level No. CF/No Infants CF Risk %
(ng/mL)

100 to 139 ---- 2/1404 ----- 0
140 to 179 ---- 1/387 ----- 0.25 (0 to 0.7)
180 to 219 ---- 12/333 ----- 3.6 (1.6 to 5.6)
220 to 259 ---- 13/122 ----- 10.7 (5.2 to 16.2)
260 to 299 ---- 11/59 ----- 18.6 (8.7 to 28.5)
.300 ---- 20/83 ----- 24.1 (14.9 to 33.3)


So looking at our situation she is in a very low risk category. Essentially 0% change.

So what I'm asking is what IRT levels did your children have and does it mesh with what the chart above reads?

Did you see the symptoms ( Oily poo, salty, failure to gain weight ....etc) or was everything normal but still had CF?

Any feedback you could give me would be great. We are concerned but looking on the positive side.


Thanks.

 

[tcb121]

Just doing some research on CF since our daughter was flagged as "screen positive" here in Maryland. I have done much research and feel confident that she does not have CF, but would like some feedback from those of you who have been through this process before me:
<br />
<br />1). Our Daughter "Ella Hope" had an IRT of 139. Here in the state of Maryland any newborn with an IRT over 90 gets flagged for more testing.
<br />
<br />2). She tested positive for the f508 gene and that is why she will be going for the sweat test next week.
<br />
<br />3). She was a 9 9 apgar and was back to her birth weight 1 week after she was born.
<br />
<br />4). Her poo looks normal from what I can tell, and it does not smell foul or look oily.
<br />
<br />5). She does not "taste salty" if that makes sense, and from all accounts she is a happy growing baby.
<br />
<br />6). Neither me nor my wife have a family history of CF.
<br />
<br />From what I can tell she would not have even been flagged a few years ago because the IRT level used to be anything over 180. I also found information that suggests really high levels of IRT have a much higher chance of having CF. Here is the link:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.hawaii.edu/hivandaids/Newborn_Screening_for_Cystic_Fibrosis_in_Wisconsin__Comp.pdf
">http://www.hawaii.edu/hivandai...n_Wisconsin__Comp.pdf
</a><br />
<br />TABLE 4. IRT Level as a Predictor of CF in Infants With
<br />Positive IRT/DNA (DF508) Screen*
<br />
<br />IRT Level No. CF/No Infants CF Risk %
<br />(ng/mL)
<br />
<br />100 to 139 ---- 2/1404 ----- 0
<br />140 to 179 ---- 1/387 ----- 0.25 (0 to 0.7)
<br />180 to 219 ---- 12/333 ----- 3.6 (1.6 to 5.6)
<br />220 to 259 ---- 13/122 ----- 10.7 (5.2 to 16.2)
<br />260 to 299 ---- 11/59 ----- 18.6 (8.7 to 28.5)
<br />.300 ---- 20/83 ----- 24.1 (14.9 to 33.3)
<br />
<br />
<br />So looking at our situation she is in a very low risk category. Essentially 0% change.
<br />
<br />So what I'm asking is what IRT levels did your children have and does it mesh with what the chart above reads?
<br />
<br />Did you see the symptoms ( Oily poo, salty, failure to gain weight ....etc) or was everything normal but still had CF?
<br />
<br />Any feedback you could give me would be great. We are concerned but looking on the positive side.
<br />
<br />
<br />Thanks.

 

[sunshine07]

I am not sure what Emily's IRT level was but she was diagnosed through the newborn screening program in Iowa. She had a 43 result for the sweat test which is borderline. The doctors ordered a full Ambry test and it came back that she did indeed have two mutations. My husband and I were then tested and found out Emily had one mutation from each of us. Neither my husband nor I had any family history of CF and to be honest I didn't even really know what CF was. Emily is 21 months old and does not have any signs or symptoms of CF and is not on any meds. Her stools are normal, and she is right on target for height and weight. If it was not for the newborn screening we would not even know Emily had CF. I urge you to be proactive and do all the testing necessary to make sure your daughter does not have CF. I would suggest getting the full Ambry genetic testing done as there are over 1500 mutations. I know it is hard to think she could have CF because she does not present with any signs or symptoms at this time but my daughter is proof that just because she is healthy and happy does not mean she does not have CF. Please keep us posted on what you find out. Best wishes to you.

 

[sunshine07]

I am not sure what Emily's IRT level was but she was diagnosed through the newborn screening program in Iowa. She had a 43 result for the sweat test which is borderline. The doctors ordered a full Ambry test and it came back that she did indeed have two mutations. My husband and I were then tested and found out Emily had one mutation from each of us. Neither my husband nor I had any family history of CF and to be honest I didn't even really know what CF was. Emily is 21 months old and does not have any signs or symptoms of CF and is not on any meds. Her stools are normal, and she is right on target for height and weight. If it was not for the newborn screening we would not even know Emily had CF. I urge you to be proactive and do all the testing necessary to make sure your daughter does not have CF. I would suggest getting the full Ambry genetic testing done as there are over 1500 mutations. I know it is hard to think she could have CF because she does not present with any signs or symptoms at this time but my daughter is proof that just because she is healthy and happy does not mean she does not have CF. Please keep us posted on what you find out. Best wishes to you.

 

[sunshine07]

I am not sure what Emily's IRT level was but she was diagnosed through the newborn screening program in Iowa. She had a 43 result for the sweat test which is borderline. The doctors ordered a full Ambry test and it came back that she did indeed have two mutations. My husband and I were then tested and found out Emily had one mutation from each of us. Neither my husband nor I had any family history of CF and to be honest I didn't even really know what CF was. Emily is 21 months old and does not have any signs or symptoms of CF and is not on any meds. Her stools are normal, and she is right on target for height and weight. If it was not for the newborn screening we would not even know Emily had CF. I urge you to be proactive and do all the testing necessary to make sure your daughter does not have CF. I would suggest getting the full Ambry genetic testing done as there are over 1500 mutations. I know it is hard to think she could have CF because she does not present with any signs or symptoms at this time but my daughter is proof that just because she is healthy and happy does not mean she does not have CF. Please keep us posted on what you find out. Best wishes to you.

 

[sunshine07]

I am not sure what Emily's IRT level was but she was diagnosed through the newborn screening program in Iowa. She had a 43 result for the sweat test which is borderline. The doctors ordered a full Ambry test and it came back that she did indeed have two mutations. My husband and I were then tested and found out Emily had one mutation from each of us. Neither my husband nor I had any family history of CF and to be honest I didn't even really know what CF was. Emily is 21 months old and does not have any signs or symptoms of CF and is not on any meds. Her stools are normal, and she is right on target for height and weight. If it was not for the newborn screening we would not even know Emily had CF. I urge you to be proactive and do all the testing necessary to make sure your daughter does not have CF. I would suggest getting the full Ambry genetic testing done as there are over 1500 mutations. I know it is hard to think she could have CF because she does not present with any signs or symptoms at this time but my daughter is proof that just because she is healthy and happy does not mean she does not have CF. Please keep us posted on what you find out. Best wishes to you.

 

[sunshine07]

I am not sure what Emily's IRT level was but she was diagnosed through the newborn screening program in Iowa. She had a 43 result for the sweat test which is borderline. The doctors ordered a full Ambry test and it came back that she did indeed have two mutations. My husband and I were then tested and found out Emily had one mutation from each of us. Neither my husband nor I had any family history of CF and to be honest I didn't even really know what CF was. Emily is 21 months old and does not have any signs or symptoms of CF and is not on any meds. Her stools are normal, and she is right on target for height and weight. If it was not for the newborn screening we would not even know Emily had CF. I urge you to be proactive and do all the testing necessary to make sure your daughter does not have CF. I would suggest getting the full Ambry genetic testing done as there are over 1500 mutations. I know it is hard to think she could have CF because she does not present with any signs or symptoms at this time but my daughter is proof that just because she is healthy and happy does not mean she does not have CF. Please keep us posted on what you find out. Best wishes to you.

 

[ktsmom]

You are right to keep on the positive side of things. Enjoy that baby girl!

I can't answer your IRT question because our state didn't do newborn screening at the time our daughter was born. She did have <i>some</i> health issues, that in retrospect, indicated CF but she didn't really start going downhill until about age 2. She did eventually have "oily poo" (LOL, what a crazy place CF world is!) was falling off the growth charts, major tummy aches etc. No family history of CF so the diagnosis was quite a shock.

I typcially believe the sweat test in most situations does have some value. However, <i><b>in your situation</b></i> I would strongly recommend just cut to the chase and get the Ambry full panel done now. You have an infant with one known mutation and a non-normal screen result. I could write a novel about the reasons behind my recommendation but I'll just leave it at this. Please PM me if you want more of my opinion <img src="i/expressions/face-icon-small-wink.gif" border="0"> <img src="i/expressions/face-icon-small-happy.gif" border="0">

<b>Best wishes and good luck!</b> I sincerely hope that you don't become a permanent fixture around here. <img src="i/expressions/heart.gif" border="0">

 

[ktsmom]

You are right to keep on the positive side of things. Enjoy that baby girl!

I can't answer your IRT question because our state didn't do newborn screening at the time our daughter was born. She did have <i>some</i> health issues, that in retrospect, indicated CF but she didn't really start going downhill until about age 2. She did eventually have "oily poo" (LOL, what a crazy place CF world is!) was falling off the growth charts, major tummy aches etc. No family history of CF so the diagnosis was quite a shock.

I typcially believe the sweat test in most situations does have some value. However, <i><b>in your situation</b></i> I would strongly recommend just cut to the chase and get the Ambry full panel done now. You have an infant with one known mutation and a non-normal screen result. I could write a novel about the reasons behind my recommendation but I'll just leave it at this. Please PM me if you want more of my opinion <img src="i/expressions/face-icon-small-wink.gif" border="0"> <img src="i/expressions/face-icon-small-happy.gif" border="0">

<b>Best wishes and good luck!</b> I sincerely hope that you don't become a permanent fixture around here. <img src="i/expressions/heart.gif" border="0">

 

[ktsmom]

You are right to keep on the positive side of things. Enjoy that baby girl!

I can't answer your IRT question because our state didn't do newborn screening at the time our daughter was born. She did have <i>some</i> health issues, that in retrospect, indicated CF but she didn't really start going downhill until about age 2. She did eventually have "oily poo" (LOL, what a crazy place CF world is!) was falling off the growth charts, major tummy aches etc. No family history of CF so the diagnosis was quite a shock.

I typcially believe the sweat test in most situations does have some value. However, <i><b>in your situation</b></i> I would strongly recommend just cut to the chase and get the Ambry full panel done now. You have an infant with one known mutation and a non-normal screen result. I could write a novel about the reasons behind my recommendation but I'll just leave it at this. Please PM me if you want more of my opinion <img src="i/expressions/face-icon-small-wink.gif" border="0"> <img src="i/expressions/face-icon-small-happy.gif" border="0">

<b>Best wishes and good luck!</b> I sincerely hope that you don't become a permanent fixture around here. <img src="i/expressions/heart.gif" border="0">

 

[ktsmom]

You are right to keep on the positive side of things. Enjoy that baby girl!

I can't answer your IRT question because our state didn't do newborn screening at the time our daughter was born. She did have <i>some</i> health issues, that in retrospect, indicated CF but she didn't really start going downhill until about age 2. She did eventually have "oily poo" (LOL, what a crazy place CF world is!) was falling off the growth charts, major tummy aches etc. No family history of CF so the diagnosis was quite a shock.

I typcially believe the sweat test in most situations does have some value. However, <i><b>in your situation</b></i> I would strongly recommend just cut to the chase and get the Ambry full panel done now. You have an infant with one known mutation and a non-normal screen result. I could write a novel about the reasons behind my recommendation but I'll just leave it at this. Please PM me if you want more of my opinion <img src="i/expressions/face-icon-small-wink.gif" border="0"> <img src="i/expressions/face-icon-small-happy.gif" border="0">

<b>Best wishes and good luck!</b> I sincerely hope that you don't become a permanent fixture around here. <img src="i/expressions/heart.gif" border="0">

 

[ktsmom]

You are right to keep on the positive side of things. Enjoy that baby girl!
<br />
<br />I can't answer your IRT question because our state didn't do newborn screening at the time our daughter was born. She did have <i>some</i> health issues, that in retrospect, indicated CF but she didn't really start going downhill until about age 2. She did eventually have "oily poo" (LOL, what a crazy place CF world is!) was falling off the growth charts, major tummy aches etc. No family history of CF so the diagnosis was quite a shock.
<br />
<br />I typcially believe the sweat test in most situations does have some value. However, <i><b>in your situation</b></i> I would strongly recommend just cut to the chase and get the Ambry full panel done now. You have an infant with one known mutation and a non-normal screen result. I could write a novel about the reasons behind my recommendation but I'll just leave it at this. Please PM me if you want more of my opinion <img src="i/expressions/face-icon-small-wink.gif" border="0"> <img src="i/expressions/face-icon-small-happy.gif" border="0">
<br />
<br /><b>Best wishes and good luck!</b> I sincerely hope that you don't become a permanent fixture around here. <img src="i/expressions/heart.gif" border="0">

 

[Alyssa]

Wow! You have done a great job with your research. I too cannot speak from experience with IRT levels, but I can tell you a few things to still watch out for.

You are right on the mark with seeing a lack of classic symptoms in your daughter - it is very possible she is only a carrier of the Delta F508 - I'm thinking that may have been what tripped the IRT test?.... however, not seeing those classic symptoms (salty skin, failure to thrive, oily poo) does not mean you are out of the woods for sure. She may have one other CF gene, one that allows for pancreatic sufficiency and near normal function of the chloride channels. This is the case with my kids - they have the Delta F508 and the R117H -- it is the R117H that allows for the pancreatic sufficiency and near normal sweat test numbers. My daughter scores normal at 38 and my son just barely into the borderline range with 41. They do not have any problems with digestion/weight gain because their pancreas functions just fine. They are currently 19 and 22 years old. They both scored well on their apgar and grew normally. Their skin does not taste salty. There was no family history of CF on either side of our families -- <b>all exactly the same as what you have listed</b>.....so I would urge you to follow through with complete Ambry genetic testing... ALL of the genes must be looked for.. ALL 1561 of them... don't let them test for only 89 of them! It is a big waste of time and money, you will not know for sure if she has that other gene unless they test for all of them.

Most doctors and insurance companies want to utilize the sweat test first - let them do it (chances are she will score in the normal range), <b>but then be sure to follow up on full genetic testing</b> - specifically mention that you are concerned with her having a second gene that would allow her to be pancreatic sufficient, having near normal chloride channel function and allowing her to be symptom free for now.... my son didn't show any symptoms until he was 21 years old! It was good to know that he had both genes, so we didn't waste time loosing ground on lung function not knowing what we were dealing with -- had we not known he had both genes his health would have suffered because we wouldn't have gotten him the right treatment at the right time.

Read my blog (link in my signature line) for more details about my kids, and how they were diagnosed...they are far from classic presentation.

Best wishes, please let us know what you find out.

 

[Alyssa]

Wow! You have done a great job with your research. I too cannot speak from experience with IRT levels, but I can tell you a few things to still watch out for.

You are right on the mark with seeing a lack of classic symptoms in your daughter - it is very possible she is only a carrier of the Delta F508 - I'm thinking that may have been what tripped the IRT test?.... however, not seeing those classic symptoms (salty skin, failure to thrive, oily poo) does not mean you are out of the woods for sure. She may have one other CF gene, one that allows for pancreatic sufficiency and near normal function of the chloride channels. This is the case with my kids - they have the Delta F508 and the R117H -- it is the R117H that allows for the pancreatic sufficiency and near normal sweat test numbers. My daughter scores normal at 38 and my son just barely into the borderline range with 41. They do not have any problems with digestion/weight gain because their pancreas functions just fine. They are currently 19 and 22 years old. They both scored well on their apgar and grew normally. Their skin does not taste salty. There was no family history of CF on either side of our families -- <b>all exactly the same as what you have listed</b>.....so I would urge you to follow through with complete Ambry genetic testing... ALL of the genes must be looked for.. ALL 1561 of them... don't let them test for only 89 of them! It is a big waste of time and money, you will not know for sure if she has that other gene unless they test for all of them.

Most doctors and insurance companies want to utilize the sweat test first - let them do it (chances are she will score in the normal range), <b>but then be sure to follow up on full genetic testing</b> - specifically mention that you are concerned with her having a second gene that would allow her to be pancreatic sufficient, having near normal chloride channel function and allowing her to be symptom free for now.... my son didn't show any symptoms until he was 21 years old! It was good to know that he had both genes, so we didn't waste time loosing ground on lung function not knowing what we were dealing with -- had we not known he had both genes his health would have suffered because we wouldn't have gotten him the right treatment at the right time.

Read my blog (link in my signature line) for more details about my kids, and how they were diagnosed...they are far from classic presentation.

Best wishes, please let us know what you find out.

 

[Alyssa]

Wow! You have done a great job with your research. I too cannot speak from experience with IRT levels, but I can tell you a few things to still watch out for.

You are right on the mark with seeing a lack of classic symptoms in your daughter - it is very possible she is only a carrier of the Delta F508 - I'm thinking that may have been what tripped the IRT test?.... however, not seeing those classic symptoms (salty skin, failure to thrive, oily poo) does not mean you are out of the woods for sure. She may have one other CF gene, one that allows for pancreatic sufficiency and near normal function of the chloride channels. This is the case with my kids - they have the Delta F508 and the R117H -- it is the R117H that allows for the pancreatic sufficiency and near normal sweat test numbers. My daughter scores normal at 38 and my son just barely into the borderline range with 41. They do not have any problems with digestion/weight gain because their pancreas functions just fine. They are currently 19 and 22 years old. They both scored well on their apgar and grew normally. Their skin does not taste salty. There was no family history of CF on either side of our families -- <b>all exactly the same as what you have listed</b>.....so I would urge you to follow through with complete Ambry genetic testing... ALL of the genes must be looked for.. ALL 1561 of them... don't let them test for only 89 of them! It is a big waste of time and money, you will not know for sure if she has that other gene unless they test for all of them.

Most doctors and insurance companies want to utilize the sweat test first - let them do it (chances are she will score in the normal range), <b>but then be sure to follow up on full genetic testing</b> - specifically mention that you are concerned with her having a second gene that would allow her to be pancreatic sufficient, having near normal chloride channel function and allowing her to be symptom free for now.... my son didn't show any symptoms until he was 21 years old! It was good to know that he had both genes, so we didn't waste time loosing ground on lung function not knowing what we were dealing with -- had we not known he had both genes his health would have suffered because we wouldn't have gotten him the right treatment at the right time.

Read my blog (link in my signature line) for more details about my kids, and how they were diagnosed...they are far from classic presentation.

Best wishes, please let us know what you find out.

 

[Alyssa]

Wow! You have done a great job with your research. I too cannot speak from experience with IRT levels, but I can tell you a few things to still watch out for.

You are right on the mark with seeing a lack of classic symptoms in your daughter - it is very possible she is only a carrier of the Delta F508 - I'm thinking that may have been what tripped the IRT test?.... however, not seeing those classic symptoms (salty skin, failure to thrive, oily poo) does not mean you are out of the woods for sure. She may have one other CF gene, one that allows for pancreatic sufficiency and near normal function of the chloride channels. This is the case with my kids - they have the Delta F508 and the R117H -- it is the R117H that allows for the pancreatic sufficiency and near normal sweat test numbers. My daughter scores normal at 38 and my son just barely into the borderline range with 41. They do not have any problems with digestion/weight gain because their pancreas functions just fine. They are currently 19 and 22 years old. They both scored well on their apgar and grew normally. Their skin does not taste salty. There was no family history of CF on either side of our families -- <b>all exactly the same as what you have listed</b>.....so I would urge you to follow through with complete Ambry genetic testing... ALL of the genes must be looked for.. ALL 1561 of them... don't let them test for only 89 of them! It is a big waste of time and money, you will not know for sure if she has that other gene unless they test for all of them.

Most doctors and insurance companies want to utilize the sweat test first - let them do it (chances are she will score in the normal range), <b>but then be sure to follow up on full genetic testing</b> - specifically mention that you are concerned with her having a second gene that would allow her to be pancreatic sufficient, having near normal chloride channel function and allowing her to be symptom free for now.... my son didn't show any symptoms until he was 21 years old! It was good to know that he had both genes, so we didn't waste time loosing ground on lung function not knowing what we were dealing with -- had we not known he had both genes his health would have suffered because we wouldn't have gotten him the right treatment at the right time.

Read my blog (link in my signature line) for more details about my kids, and how they were diagnosed...they are far from classic presentation.

Best wishes, please let us know what you find out.

 

[Alyssa]

Wow! You have done a great job with your research. I too cannot speak from experience with IRT levels, but I can tell you a few things to still watch out for.
<br />
<br />You are right on the mark with seeing a lack of classic symptoms in your daughter - it is very possible she is only a carrier of the Delta F508 - I'm thinking that may have been what tripped the IRT test?.... however, not seeing those classic symptoms (salty skin, failure to thrive, oily poo) does not mean you are out of the woods for sure. She may have one other CF gene, one that allows for pancreatic sufficiency and near normal function of the chloride channels. This is the case with my kids - they have the Delta F508 and the R117H -- it is the R117H that allows for the pancreatic sufficiency and near normal sweat test numbers. My daughter scores normal at 38 and my son just barely into the borderline range with 41. They do not have any problems with digestion/weight gain because their pancreas functions just fine. They are currently 19 and 22 years old. They both scored well on their apgar and grew normally. Their skin does not taste salty. There was no family history of CF on either side of our families -- <b>all exactly the same as what you have listed</b>.....so I would urge you to follow through with complete Ambry genetic testing... ALL of the genes must be looked for.. ALL 1561 of them... don't let them test for only 89 of them! It is a big waste of time and money, you will not know for sure if she has that other gene unless they test for all of them.
<br />
<br />Most doctors and insurance companies want to utilize the sweat test first - let them do it (chances are she will score in the normal range), <b>but then be sure to follow up on full genetic testing</b> - specifically mention that you are concerned with her having a second gene that would allow her to be pancreatic sufficient, having near normal chloride channel function and allowing her to be symptom free for now.... my son didn't show any symptoms until he was 21 years old! It was good to know that he had both genes, so we didn't waste time loosing ground on lung function not knowing what we were dealing with -- had we not known he had both genes his health would have suffered because we wouldn't have gotten him the right treatment at the right time.
<br />
<br />Read my blog (link in my signature line) for more details about my kids, and how they were diagnosed...they are far from classic presentation.
<br />
<br />Best wishes, please let us know what you find out.