Elevated IRT levels, trying to keep it together

[kots66]

We have a beautiful 1 month old daughter, with elevated IRT levels.<br><br>Before she was born, amnio showed that she was an heterozygous carrier of DF508. After that, both me and my wife tested for the 50 most common mutations, and the results said that I was a heterozygous carrier of DF508, and that my wife was clean. Given these facts, and the number of mutations tested, we were told that the chance that our daughter was born with CF was 1:840.<br><br>Fast forward a few weeks back from today, and a few days after we left the hospital, a call came in saying that IRT on the blood collected within the first 24 hours was found to be 156 which was considered high, and a second test must be perfomed.<br><br>At 19 days old, we performed a second test (they collected blood on a small piece of paper), which showed the IRT at 126, which was considered still high.<br><br>After that we were advised to perform a sweat test, and now we have to wait a couple of weeks for our appointment.<br><br>Needless to say, I feel really terrible, I barely manage to keep it together.  We don't have any history of CF in our families, and my daughter seems really healthy, eats normally, poops normally, and actually gains weight at a greater rate than normal (more than 30 grams per day).  <br><br>What should I look out for? What are the chances that she has CF?  <br><br>I feel like I'm going crazy, any piece of advice greatly appreciated.<br><br><br>

 

[kots66]

We have a beautiful 1 month old daughter, with elevated IRT levels.<br><br>Before she was born, amnio showed that she was an heterozygous carrier of DF508. After that, both me and my wife tested for the 50 most common mutations, and the results said that I was a heterozygous carrier of DF508, and that my wife was clean. Given these facts, and the number of mutations tested, we were told that the chance that our daughter was born with CF was 1:840.<br><br>Fast forward a few weeks back from today, and a few days after we left the hospital, a call came in saying that IRT on the blood collected within the first 24 hours was found to be 156 which was considered high, and a second test must be perfomed.<br><br>At 19 days old, we performed a second test (they collected blood on a small piece of paper), which showed the IRT at 126, which was considered still high.<br><br>After that we were advised to perform a sweat test, and now we have to wait a couple of weeks for our appointment.<br><br>Needless to say, I feel really terrible, I barely manage to keep it together. We don't have any history of CF in our families, and my daughter seems really healthy, eats normally, poops normally, and actually gains weight at a greater rate than normal (more than 30 grams per day). <br><br>What should I look out for? What are the chances that she has CF? <br><br>I feel like I'm going crazy, any piece of advice greatly appreciated.<br><br><br>

 

[kots66]

We have a beautiful 1 month old daughter, with elevated IRT levels.<br><br>Before she was born, amnio showed that she was an heterozygous carrier of DF508. After that, both me and my wife tested for the 50 most common mutations, and the results said that I was a heterozygous carrier of DF508, and that my wife was clean. Given these facts, and the number of mutations tested, we were told that the chance that our daughter was born with CF was 1:840.<br><br>Fast forward a few weeks back from today, and a few days after we left the hospital, a call came in saying that IRT on the blood collected within the first 24 hours was found to be 156 which was considered high, and a second test must be perfomed.<br><br>At 19 days old, we performed a second test (they collected blood on a small piece of paper), which showed the IRT at 126, which was considered still high.<br><br>After that we were advised to perform a sweat test, and now we have to wait a couple of weeks for our appointment.<br><br>Needless to say, I feel really terrible, I barely manage to keep it together. We don't have any history of CF in our families, and my daughter seems really healthy, eats normally, poops normally, and actually gains weight at a greater rate than normal (more than 30 grams per day). <br><br>What should I look out for? What are the chances that she has CF? <br><br>I feel like I'm going crazy, any piece of advice greatly appreciated.<br><br><br>

 

[edan]

Call and beg/cry for an earlier appt. That is what I ended up doing (didn't plan it, it just happened that way). The appt scheduler often doesn't realize the toll stress can play during the waiting game. Especially as a new mom.

When you lick your child's skin, is it salty? My daughter went untreated/undiagnosed for 3 years without symptoms so often you can't tell they have cf early on.

But you know what? We were devastated at first but now, we are all doing ok. It is our new normal and we are happy.

 

[edan]

Call and beg/cry for an earlier appt. That is what I ended up doing (didn't plan it, it just happened that way). The appt scheduler often doesn't realize the toll stress can play during the waiting game. Especially as a new mom.

When you lick your child's skin, is it salty? My daughter went untreated/undiagnosed for 3 years without symptoms so often you can't tell they have cf early on.

But you know what? We were devastated at first but now, we are all doing ok. It is our new normal and we are happy.

 

[edan]

Call and beg/cry for an earlier appt. That is what I ended up doing (didn't plan it, it just happened that way). The appt scheduler often doesn't realize the toll stress can play during the waiting game. Especially as a new mom.
<br />
<br />When you lick your child's skin, is it salty? My daughter went untreated/undiagnosed for 3 years without symptoms so often you can't tell they have cf early on.
<br />
<br />But you know what? We were devastated at first but now, we are all doing ok. It is our new normal and we are happy.

 

[Mommafirst]

With nearly 1800 known mutations for CF, ruling out the 50 on the panel doesn't really alleviate the small possibility. 9 of 10 failed IRT tests do wind up being just carriers for the disease... especially carriers of DF508 which tends to yield abnormal IRTs. I don't know if the high on the second one is more indicative of one with CF vs. carrier.

I know this is a really hard time...the unknown is very scary. If you notice growth, bowel or breathing issues you should let a doc know. But as Eden said, there can be months or years before symptoms are evident. My 5 year old has had some tough moments along the way, but overall appears very healthy and normal with no gastro symptoms.

Hang in there and do whatever you can to get the rest of the testing to be done quickly, you don't need the stress of the unknown to last longer than necessary.

 

[Mommafirst]

With nearly 1800 known mutations for CF, ruling out the 50 on the panel doesn't really alleviate the small possibility. 9 of 10 failed IRT tests do wind up being just carriers for the disease... especially carriers of DF508 which tends to yield abnormal IRTs. I don't know if the high on the second one is more indicative of one with CF vs. carrier.

I know this is a really hard time...the unknown is very scary. If you notice growth, bowel or breathing issues you should let a doc know. But as Eden said, there can be months or years before symptoms are evident. My 5 year old has had some tough moments along the way, but overall appears very healthy and normal with no gastro symptoms.

Hang in there and do whatever you can to get the rest of the testing to be done quickly, you don't need the stress of the unknown to last longer than necessary.

 

[Mommafirst]

With nearly 1800 known mutations for CF, ruling out the 50 on the panel doesn't really alleviate the small possibility. 9 of 10 failed IRT tests do wind up being just carriers for the disease... especially carriers of DF508 which tends to yield abnormal IRTs. I don't know if the high on the second one is more indicative of one with CF vs. carrier.
<br />
<br />I know this is a really hard time...the unknown is very scary. If you notice growth, bowel or breathing issues you should let a doc know. But as Eden said, there can be months or years before symptoms are evident. My 5 year old has had some tough moments along the way, but overall appears very healthy and normal with no gastro symptoms.
<br />
<br />Hang in there and do whatever you can to get the rest of the testing to be done quickly, you don't need the stress of the unknown to last longer than necessary.
<br />
<br />

 

[kots66]

Thanks for the replies.

@edan: I have tried licking her skin when she is sweaty, but didn't notice anything abnormal, but this is my first child, so maybe I wouldn't know. My sister is a doctor, has two children, and when she kissed her on the forehead she told me that the taste was normal. Really glad to hear you're doing ok + happy.

@Mommafirst: I know, I've read conflicting reports. I found one report that said that if the second IRT is elevated, then chances are 1:3 that the child has CF. I found another report that somebody uploaded on this very forum, that specifically discussed people with one mutation of DF508, and basically said that people with IRT levels below 180 have very little chances to end up being diagnosed with CF. I don't know what to say, I really hope the sweat test comes out negative.

 

[kots66]

Thanks for the replies.

@edan: I have tried licking her skin when she is sweaty, but didn't notice anything abnormal, but this is my first child, so maybe I wouldn't know. My sister is a doctor, has two children, and when she kissed her on the forehead she told me that the taste was normal. Really glad to hear you're doing ok + happy.

@Mommafirst: I know, I've read conflicting reports. I found one report that said that if the second IRT is elevated, then chances are 1:3 that the child has CF. I found another report that somebody uploaded on this very forum, that specifically discussed people with one mutation of DF508, and basically said that people with IRT levels below 180 have very little chances to end up being diagnosed with CF. I don't know what to say, I really hope the sweat test comes out negative.

 

[kots66]

Thanks for the replies.
<br />
<br />@edan: I have tried licking her skin when she is sweaty, but didn't notice anything abnormal, but this is my first child, so maybe I wouldn't know. My sister is a doctor, has two children, and when she kissed her on the forehead she told me that the taste was normal. Really glad to hear you're doing ok + happy.
<br />
<br />@Mommafirst: I know, I've read conflicting reports. I found one report that said that if the second IRT is elevated, then chances are 1:3 that the child has CF. I found another report that somebody uploaded on this very forum, that specifically discussed people with one mutation of DF508, and basically said that people with IRT levels below 180 have very little chances to end up being diagnosed with CF. I don't know what to say, I really hope the sweat test comes out negative.
<br />
<br />

 

[hmw]

As posted, when the first IRT is elevated it is VERY often proven not to be due to CF. It was a real balancing act trying to set a cutoff level that would catch most babies with CF and not yield more false positives than already seen.

They are often due to carrier state, and in some cases jaundice or other circumstances. Some of these reasons resolve early on and would result in a normal 2nd test; but it is true that two abnormal results do mean a false negative is less likely.

The sweat test is often not reliable in a young baby and most young babies with CF are quite healthy. I would encourage genetic sequencing for a much higher level of certainty as to what is going on and the peace of mind it will provide in the event the sweat test is not conclusive. Wishing the very best, and for NO CF!!

 

[hmw]

As posted, when the first IRT is elevated it is VERY often proven not to be due to CF. It was a real balancing act trying to set a cutoff level that would catch most babies with CF and not yield more false positives than already seen.

They are often due to carrier state, and in some cases jaundice or other circumstances. Some of these reasons resolve early on and would result in a normal 2nd test; but it is true that two abnormal results do mean a false negative is less likely.

The sweat test is often not reliable in a young baby and most young babies with CF are quite healthy. I would encourage genetic sequencing for a much higher level of certainty as to what is going on and the peace of mind it will provide in the event the sweat test is not conclusive. Wishing the very best, and for NO CF!!

 

[hmw]

As posted, when the first IRT is elevated it is VERY often proven not to be due to CF. It was a real balancing act trying to set a cutoff level that would catch most babies with CF and not yield more false positives than already seen.
<br />
<br />They are often due to carrier state, and in some cases jaundice or other circumstances. Some of these reasons resolve early on and would result in a normal 2nd test; but it is true that two abnormal results do mean a false negative is less likely.
<br />
<br />The sweat test is often not reliable in a young baby and most young babies with CF are quite healthy. I would encourage genetic sequencing for a much higher level of certainty as to what is going on and the peace of mind it will provide in the event the sweat test is not conclusive. Wishing the very best, and for NO CF!!

 

[NancyLKF]

When I was pregnant with baby #2 - our first has CF - I went through all of the possibilities with our CF doc, including that an abnormal newborn screen / high IRT levels doesn't mean she would have CF since 90% of the time it is false and that we shouldn't worry 'cause it could just mean she she is a carrier.<br><br> Do try to get an appointment sooner than the one you have. You shouldn't have to wait so long to find out if your child has CF or not. We found out our first has CF when she was just 6 days old. I know it's tough. But it will be okay, no matter what.<br><br>We are praying your daughter does not have CF! Please keep us posted.<br><br>

 

[NancyLKF]

When I was pregnant with baby #2 - our first has CF - I went through all of the possibilities with our CF doc, including that an abnormal newborn screen / high IRT levels doesn't mean she would have CF since 90% of the time it is false and that we shouldn't worry 'cause it could just mean she she is a carrier.<br><br>Do try to get an appointment sooner than the one you have. You shouldn't have to wait so long to find out if your child has CF or not. We found out our first has CF when she was just 6 days old. I know it's tough. But it will be okay, no matter what.<br><br>We are praying your daughter does not have CF! Please keep us posted.<br><br>

 

[NancyLKF]

When I was pregnant with baby #2 - our first has CF - I went through all of the possibilities with our CF doc, including that an abnormal newborn screen / high IRT levels doesn't mean she would have CF since 90% of the time it is false and that we shouldn't worry 'cause it could just mean she she is a carrier.<br><br>Do try to get an appointment sooner than the one you have. You shouldn't have to wait so long to find out if your child has CF or not. We found out our first has CF when she was just 6 days old. I know it's tough. But it will be okay, no matter what.<br><br>We are praying your daughter does not have CF! Please keep us posted.<br><br>

 

[kots66]

Thanks for all the replies and the support. I managed to find an appointment this Tuesday. I really hope that the results will be good, and that she's just a carrier.

 

[kots66]

Thanks for all the replies and the support. I managed to find an appointment this Tuesday. I really hope that the results will be good, and that she's just a carrier.