IRT levels

tcb121 · Jul 28, 2008

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.

tcb121 · Jul 28, 2008

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.

tcb121 · Jul 28, 2008

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.

tcb121 · Jul 28, 2008

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.

tcb121 · Jul 28, 2008

ourmiraclekidz,
 
 I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.

ourmiraclekidz · Aug 1, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: tcb121

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.</end quote></div>

AND THANK YOU SOOOOO MUCH for posting that. It helped me so much. Although hubby would find me crying since a few days ago he had a green poop. I was analyzing everything like you said.

Anyway I came back to post that we had the sweat test done and it was normal. We are relieved. I just wish we did not have to go through that scare. NYS seems to have a low threshold for kicking back IRT levels. 64.2 was Jason's and that is really low considering. That is where your chart helped a lot again thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">

ourmiraclekidz · Aug 1, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: tcb121

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.</end quote></div>

AND THANK YOU SOOOOO MUCH for posting that. It helped me so much. Although hubby would find me crying since a few days ago he had a green poop. I was analyzing everything like you said.

Anyway I came back to post that we had the sweat test done and it was normal. We are relieved. I just wish we did not have to go through that scare. NYS seems to have a low threshold for kicking back IRT levels. 64.2 was Jason's and that is really low considering. That is where your chart helped a lot again thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">

ourmiraclekidz · Aug 1, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: tcb121

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.</end quote></div>

AND THANK YOU SOOOOO MUCH for posting that. It helped me so much. Although hubby would find me crying since a few days ago he had a green poop. I was analyzing everything like you said.

Anyway I came back to post that we had the sweat test done and it was normal. We are relieved. I just wish we did not have to go through that scare. NYS seems to have a low threshold for kicking back IRT levels. 64.2 was Jason's and that is really low considering. That is where your chart helped a lot again thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">

ourmiraclekidz · Aug 1, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: tcb121

ourmiraclekidz,

I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.</end quote>

AND THANK YOU SOOOOO MUCH for posting that. It helped me so much. Although hubby would find me crying since a few days ago he had a green poop. I was analyzing everything like you said.

Anyway I came back to post that we had the sweat test done and it was normal. We are relieved. I just wish we did not have to go through that scare. NYS seems to have a low threshold for kicking back IRT levels. 64.2 was Jason's and that is really low considering. That is where your chart helped a lot again thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">

ourmiraclekidz · Aug 1, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: tcb121
 
 ourmiraclekidz,
 
 
 
 I know how you feel which is why I posted this IRT level chart/tracker. When we were told our daughter was flagged for CF with a single mutation of DF508 and needed to go for a sweat test I wanted to know what the real odds were. At first we were told 1 in 12 chance because our pediatrician did not have the IRT levels from the lab. I contacted the lab and got our IRT levels and began to search the internet like crazy. It sounds like your baby will be in a very low near 0% category like our daughter was. It still keeps you on edge until you get the sweat test results back. We were second guessing ourselves all along and analyzing every poop and breath she would take. I was the positive one while the wife was the worrier. I knew the odds were near 0% and could tell our daughter was doing fine. She looked healthy and was gaining weight and getting bigger every day. Keep you spirits up and try to avoid the urge to think negative thoughts. Best of luck to you and your family.</end quote>
 
 AND THANK YOU SOOOOO MUCH for posting that. It helped me so much. Although hubby would find me crying since a few days ago he had a green poop. I was analyzing everything like you said.
 
 Anyway I came back to post that we had the sweat test done and it was normal. We are relieved. I just wish we did not have to go through that scare. NYS seems to have a low threshold for kicking back IRT levels. 64.2 was Jason's and that is really low considering. That is where your chart helped a lot again thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">

ourmiraclekidz · Aug 8, 2008

I am posting this for other NYS parents in my position. there is a high false positive rate.
Steph

New York State cystic fibrosis consortium: the first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population.
Giusti R, Badgwell A, Iglesias AD; New York State Cystic Fibrosis Newborn Screening Consortium.

Departments of Pediatrics, Long Island College Hospital, Brooklyn, New York 11201, USA.

OBJECTIVE: The purpose of this work was to report on the first 2.5 years of newborn screening for cystic fibrosis in New York. METHODS: Directors of the 11 New York cystic fibrosis centers were asked to provide mutation data, demographic data, and selected laboratory results for each patient diagnosed by newborn screening and followed at their center. Summary data were also submitted from the New York newborn screening laboratory on the total number of patients screened, the number of positive screens, and the number of patients that were lost to follow-up. A second survey was submitted by each center regarding the availability of genetic counseling services at the center. RESULTS: A total of 106 patients with cystic fibrosis were diagnosed through newborn screening in the first 2.5 years and followed at the 11 Cystic Fibrosis Foundation-sponsored cystic fibrosis care centers in New York. Two screen-negative infants were subsequently diagnosed with cystic fibrosis when symptoms developed. The allele frequency of deltaF508 was 57.4%, which is somewhat lower than the allele frequency of deltaF508 in the US cystic fibrosis population of 70%. There were 90 non-Hispanic white (84%), 12 Hispanic, 2 Asian, and 1 black infants diagnosed with cystic fibrosis during this period. Five patients were diagnosed secondary to a positive screen based on a high immunoreactive trypsinogen and no mutations. CONCLUSIONS: Newborn screening for cystic fibrosis has been effectively conducted in New York using a unique screening algorithm that was designed to be inclusive of the diverse racial makeup of the state. However, this algorithm results in a high false-positive rate, and a large number of healthy newborns are referred for confirmatory sweat tests and genetic counseling. This experience indicates that it would be helpful to convene a working group of cystic fibrosis newborn screening specialists to evaluate which mutations should be included in a newborn screening panel.

ourmiraclekidz · Aug 8, 2008

I am posting this for other NYS parents in my position. there is a high false positive rate.
Steph

New York State cystic fibrosis consortium: the first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population.
Giusti R, Badgwell A, Iglesias AD; New York State Cystic Fibrosis Newborn Screening Consortium.

Departments of Pediatrics, Long Island College Hospital, Brooklyn, New York 11201, USA.

OBJECTIVE: The purpose of this work was to report on the first 2.5 years of newborn screening for cystic fibrosis in New York. METHODS: Directors of the 11 New York cystic fibrosis centers were asked to provide mutation data, demographic data, and selected laboratory results for each patient diagnosed by newborn screening and followed at their center. Summary data were also submitted from the New York newborn screening laboratory on the total number of patients screened, the number of positive screens, and the number of patients that were lost to follow-up. A second survey was submitted by each center regarding the availability of genetic counseling services at the center. RESULTS: A total of 106 patients with cystic fibrosis were diagnosed through newborn screening in the first 2.5 years and followed at the 11 Cystic Fibrosis Foundation-sponsored cystic fibrosis care centers in New York. Two screen-negative infants were subsequently diagnosed with cystic fibrosis when symptoms developed. The allele frequency of deltaF508 was 57.4%, which is somewhat lower than the allele frequency of deltaF508 in the US cystic fibrosis population of 70%. There were 90 non-Hispanic white (84%), 12 Hispanic, 2 Asian, and 1 black infants diagnosed with cystic fibrosis during this period. Five patients were diagnosed secondary to a positive screen based on a high immunoreactive trypsinogen and no mutations. CONCLUSIONS: Newborn screening for cystic fibrosis has been effectively conducted in New York using a unique screening algorithm that was designed to be inclusive of the diverse racial makeup of the state. However, this algorithm results in a high false-positive rate, and a large number of healthy newborns are referred for confirmatory sweat tests and genetic counseling. This experience indicates that it would be helpful to convene a working group of cystic fibrosis newborn screening specialists to evaluate which mutations should be included in a newborn screening panel.

ourmiraclekidz · Aug 8, 2008

I am posting this for other NYS parents in my position. there is a high false positive rate.
Steph

New York State cystic fibrosis consortium: the first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population.
Giusti R, Badgwell A, Iglesias AD; New York State Cystic Fibrosis Newborn Screening Consortium.

Departments of Pediatrics, Long Island College Hospital, Brooklyn, New York 11201, USA.

OBJECTIVE: The purpose of this work was to report on the first 2.5 years of newborn screening for cystic fibrosis in New York. METHODS: Directors of the 11 New York cystic fibrosis centers were asked to provide mutation data, demographic data, and selected laboratory results for each patient diagnosed by newborn screening and followed at their center. Summary data were also submitted from the New York newborn screening laboratory on the total number of patients screened, the number of positive screens, and the number of patients that were lost to follow-up. A second survey was submitted by each center regarding the availability of genetic counseling services at the center. RESULTS: A total of 106 patients with cystic fibrosis were diagnosed through newborn screening in the first 2.5 years and followed at the 11 Cystic Fibrosis Foundation-sponsored cystic fibrosis care centers in New York. Two screen-negative infants were subsequently diagnosed with cystic fibrosis when symptoms developed. The allele frequency of deltaF508 was 57.4%, which is somewhat lower than the allele frequency of deltaF508 in the US cystic fibrosis population of 70%. There were 90 non-Hispanic white (84%), 12 Hispanic, 2 Asian, and 1 black infants diagnosed with cystic fibrosis during this period. Five patients were diagnosed secondary to a positive screen based on a high immunoreactive trypsinogen and no mutations. CONCLUSIONS: Newborn screening for cystic fibrosis has been effectively conducted in New York using a unique screening algorithm that was designed to be inclusive of the diverse racial makeup of the state. However, this algorithm results in a high false-positive rate, and a large number of healthy newborns are referred for confirmatory sweat tests and genetic counseling. This experience indicates that it would be helpful to convene a working group of cystic fibrosis newborn screening specialists to evaluate which mutations should be included in a newborn screening panel.

ourmiraclekidz · Aug 8, 2008

I am posting this for other NYS parents in my position. there is a high false positive rate.
Steph

New York State cystic fibrosis consortium: the first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population.
Giusti R, Badgwell A, Iglesias AD; New York State Cystic Fibrosis Newborn Screening Consortium.

Departments of Pediatrics, Long Island College Hospital, Brooklyn, New York 11201, USA.

OBJECTIVE: The purpose of this work was to report on the first 2.5 years of newborn screening for cystic fibrosis in New York. METHODS: Directors of the 11 New York cystic fibrosis centers were asked to provide mutation data, demographic data, and selected laboratory results for each patient diagnosed by newborn screening and followed at their center. Summary data were also submitted from the New York newborn screening laboratory on the total number of patients screened, the number of positive screens, and the number of patients that were lost to follow-up. A second survey was submitted by each center regarding the availability of genetic counseling services at the center. RESULTS: A total of 106 patients with cystic fibrosis were diagnosed through newborn screening in the first 2.5 years and followed at the 11 Cystic Fibrosis Foundation-sponsored cystic fibrosis care centers in New York. Two screen-negative infants were subsequently diagnosed with cystic fibrosis when symptoms developed. The allele frequency of deltaF508 was 57.4%, which is somewhat lower than the allele frequency of deltaF508 in the US cystic fibrosis population of 70%. There were 90 non-Hispanic white (84%), 12 Hispanic, 2 Asian, and 1 black infants diagnosed with cystic fibrosis during this period. Five patients were diagnosed secondary to a positive screen based on a high immunoreactive trypsinogen and no mutations. CONCLUSIONS: Newborn screening for cystic fibrosis has been effectively conducted in New York using a unique screening algorithm that was designed to be inclusive of the diverse racial makeup of the state. However, this algorithm results in a high false-positive rate, and a large number of healthy newborns are referred for confirmatory sweat tests and genetic counseling. This experience indicates that it would be helpful to convene a working group of cystic fibrosis newborn screening specialists to evaluate which mutations should be included in a newborn screening panel.

ourmiraclekidz · Aug 8, 2008

I am posting this for other NYS parents in my position. there is a high false positive rate.
 Steph
 
 
 New York State cystic fibrosis consortium: the first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population.
 Giusti R, Badgwell A, Iglesias AD; New York State Cystic Fibrosis Newborn Screening Consortium.
 
 Departments of Pediatrics, Long Island College Hospital, Brooklyn, New York 11201, USA.
 
 OBJECTIVE: The purpose of this work was to report on the first 2.5 years of newborn screening for cystic fibrosis in New York. METHODS: Directors of the 11 New York cystic fibrosis centers were asked to provide mutation data, demographic data, and selected laboratory results for each patient diagnosed by newborn screening and followed at their center. Summary data were also submitted from the New York newborn screening laboratory on the total number of patients screened, the number of positive screens, and the number of patients that were lost to follow-up. A second survey was submitted by each center regarding the availability of genetic counseling services at the center. RESULTS: A total of 106 patients with cystic fibrosis were diagnosed through newborn screening in the first 2.5 years and followed at the 11 Cystic Fibrosis Foundation-sponsored cystic fibrosis care centers in New York. Two screen-negative infants were subsequently diagnosed with cystic fibrosis when symptoms developed. The allele frequency of deltaF508 was 57.4%, which is somewhat lower than the allele frequency of deltaF508 in the US cystic fibrosis population of 70%. There were 90 non-Hispanic white (84%), 12 Hispanic, 2 Asian, and 1 black infants diagnosed with cystic fibrosis during this period. Five patients were diagnosed secondary to a positive screen based on a high immunoreactive trypsinogen and no mutations. CONCLUSIONS: Newborn screening for cystic fibrosis has been effectively conducted in New York using a unique screening algorithm that was designed to be inclusive of the diverse racial makeup of the state. However, this algorithm results in a high false-positive rate, and a large number of healthy newborns are referred for confirmatory sweat tests and genetic counseling. This experience indicates that it would be helpful to convene a working group of cystic fibrosis newborn screening specialists to evaluate which mutations should be included in a newborn screening panel.

beccasmom · Oct 7, 2008