what are the chances?

L

lilysmom09

Guest
Hi there, I am so happy to find this site, and my prayers are with all of you out there either living with cf, or caring for someone with it. This is a very scary time for my family, when i was pregnant with my first child we found out that i am a carrier for cf, no one else in my family as we know it has cf, or has ever been diagnosed as a carrier for the disease. My fiance was then tested and was found negative as a carrier, so we were told that there was no chance of us having a child with it. Our second child is now 4 weeks old and we were notified by our pediatrician that her newborn screen came out with a mutation and that we will need to take her for a sweat test to determine whether she has the disease. I am just curious if there are any of you out there that have had a child with cf with only one carrier parent? I am very nervous about this test and not quite sure why we would be told that it was not possible for us to have a child with the disease and now there is a chance that we do, I am praying everyday that she is only a carrier, but still as a parent can not help but worry <img src="i/expressions/face-icon-small-sad.gif" border="0"> Please any information that anyone can give me would be great. Thanks!
 
L

lilysmom09

Guest
Hi there, I am so happy to find this site, and my prayers are with all of you out there either living with cf, or caring for someone with it. This is a very scary time for my family, when i was pregnant with my first child we found out that i am a carrier for cf, no one else in my family as we know it has cf, or has ever been diagnosed as a carrier for the disease. My fiance was then tested and was found negative as a carrier, so we were told that there was no chance of us having a child with it. Our second child is now 4 weeks old and we were notified by our pediatrician that her newborn screen came out with a mutation and that we will need to take her for a sweat test to determine whether she has the disease. I am just curious if there are any of you out there that have had a child with cf with only one carrier parent? I am very nervous about this test and not quite sure why we would be told that it was not possible for us to have a child with the disease and now there is a chance that we do, I am praying everyday that she is only a carrier, but still as a parent can not help but worry <img src="i/expressions/face-icon-small-sad.gif" border="0"> Please any information that anyone can give me would be great. Thanks!
 
L

lilysmom09

Guest
Hi there, I am so happy to find this site, and my prayers are with all of you out there either living with cf, or caring for someone with it. This is a very scary time for my family, when i was pregnant with my first child we found out that i am a carrier for cf, no one else in my family as we know it has cf, or has ever been diagnosed as a carrier for the disease. My fiance was then tested and was found negative as a carrier, so we were told that there was no chance of us having a child with it. Our second child is now 4 weeks old and we were notified by our pediatrician that her newborn screen came out with a mutation and that we will need to take her for a sweat test to determine whether she has the disease. I am just curious if there are any of you out there that have had a child with cf with only one carrier parent? I am very nervous about this test and not quite sure why we would be told that it was not possible for us to have a child with the disease and now there is a chance that we do, I am praying everyday that she is only a carrier, but still as a parent can not help but worry <img src="i/expressions/face-icon-small-sad.gif" border="0"> Please any information that anyone can give me would be great. Thanks!
 
L

lilysmom09

Guest
Hi there, I am so happy to find this site, and my prayers are with all of you out there either living with cf, or caring for someone with it. This is a very scary time for my family, when i was pregnant with my first child we found out that i am a carrier for cf, no one else in my family as we know it has cf, or has ever been diagnosed as a carrier for the disease. My fiance was then tested and was found negative as a carrier, so we were told that there was no chance of us having a child with it. Our second child is now 4 weeks old and we were notified by our pediatrician that her newborn screen came out with a mutation and that we will need to take her for a sweat test to determine whether she has the disease. I am just curious if there are any of you out there that have had a child with cf with only one carrier parent? I am very nervous about this test and not quite sure why we would be told that it was not possible for us to have a child with the disease and now there is a chance that we do, I am praying everyday that she is only a carrier, but still as a parent can not help but worry <img src="i/expressions/face-icon-small-sad.gif" border="0"> Please any information that anyone can give me would be great. Thanks!
 
L

lilysmom09

Guest
Hi there, I am so happy to find this site, and my prayers are with all of you out there either living with cf, or caring for someone with it. This is a very scary time for my family, when i was pregnant with my first child we found out that i am a carrier for cf, no one else in my family as we know it has cf, or has ever been diagnosed as a carrier for the disease. My fiance was then tested and was found negative as a carrier, so we were told that there was no chance of us having a child with it. Our second child is now 4 weeks old and we were notified by our pediatrician that her newborn screen came out with a mutation and that we will need to take her for a sweat test to determine whether she has the disease. I am just curious if there are any of you out there that have had a child with cf with only one carrier parent? I am very nervous about this test and not quite sure why we would be told that it was not possible for us to have a child with the disease and now there is a chance that we do, I am praying everyday that she is only a carrier, but still as a parent can not help but worry <img src="i/expressions/face-icon-small-sad.gif" border="0"> Please any information that anyone can give me would be great. Thanks!
 
J

JazzysMom

New member
First off congrats on your baby!

Secondly when your fiance was tested I am sure they did the basic panel which covers a small % of the most common mutations.

Sadly that doesnt rule out the chances of being a carrier & it irks me to know end that it cant be expanded to the 1500+ mutations that do exist.

We have had a few members who had their mates/spouses tested with the basic panel just to find out that their child inherited a gene that was in the more extensive testing.

One of our members (loulou) who actually has CF herself went through this. Her husband was tested & things came back negative. They already knew their child would be a carrier because of her having CF. They found out that their son inherited a gene mutation from her husband that wasnt in the basic testing so their son has CF.

Good Luck!
 
J

JazzysMom

New member
First off congrats on your baby!

Secondly when your fiance was tested I am sure they did the basic panel which covers a small % of the most common mutations.

Sadly that doesnt rule out the chances of being a carrier & it irks me to know end that it cant be expanded to the 1500+ mutations that do exist.

We have had a few members who had their mates/spouses tested with the basic panel just to find out that their child inherited a gene that was in the more extensive testing.

One of our members (loulou) who actually has CF herself went through this. Her husband was tested & things came back negative. They already knew their child would be a carrier because of her having CF. They found out that their son inherited a gene mutation from her husband that wasnt in the basic testing so their son has CF.

Good Luck!
 
J

JazzysMom

New member
First off congrats on your baby!

Secondly when your fiance was tested I am sure they did the basic panel which covers a small % of the most common mutations.

Sadly that doesnt rule out the chances of being a carrier & it irks me to know end that it cant be expanded to the 1500+ mutations that do exist.

We have had a few members who had their mates/spouses tested with the basic panel just to find out that their child inherited a gene that was in the more extensive testing.

One of our members (loulou) who actually has CF herself went through this. Her husband was tested & things came back negative. They already knew their child would be a carrier because of her having CF. They found out that their son inherited a gene mutation from her husband that wasnt in the basic testing so their son has CF.

Good Luck!
 
J

JazzysMom

New member
First off congrats on your baby!

Secondly when your fiance was tested I am sure they did the basic panel which covers a small % of the most common mutations.

Sadly that doesnt rule out the chances of being a carrier & it irks me to know end that it cant be expanded to the 1500+ mutations that do exist.

We have had a few members who had their mates/spouses tested with the basic panel just to find out that their child inherited a gene that was in the more extensive testing.

One of our members (loulou) who actually has CF herself went through this. Her husband was tested & things came back negative. They already knew their child would be a carrier because of her having CF. They found out that their son inherited a gene mutation from her husband that wasnt in the basic testing so their son has CF.

Good Luck!
 
J

JazzysMom

New member
First off congrats on your baby!
<br />
<br />Secondly when your fiance was tested I am sure they did the basic panel which covers a small % of the most common mutations.
<br />
<br />Sadly that doesnt rule out the chances of being a carrier & it irks me to know end that it cant be expanded to the 1500+ mutations that do exist.
<br />
<br />We have had a few members who had their mates/spouses tested with the basic panel just to find out that their child inherited a gene that was in the more extensive testing.
<br />
<br />One of our members (loulou) who actually has CF herself went through this. Her husband was tested & things came back negative. They already knew their child would be a carrier because of her having CF. They found out that their son inherited a gene mutation from her husband that wasnt in the basic testing so their son has CF.
<br />
<br />Good Luck!
 
J

julie

New member
when they did her newborn screening, did they find two mutations or just one. Your post has me assuming they found just one, is this correct?

Both of you need to be carriers for a child of yours to have CF unless there is some sort of RARE anomoly that occurs when the fetus is developing where he/she inherits both of your strands of DNA that house the the CF mutation (can't recall the # right now). This situation is rare, only a few cases in the US so don't loose sleep over it.

It's more likely that you passed your 1 CF mutation onto her, and that is what showed up in the newborn screening.
 
J

julie

New member
when they did her newborn screening, did they find two mutations or just one. Your post has me assuming they found just one, is this correct?

Both of you need to be carriers for a child of yours to have CF unless there is some sort of RARE anomoly that occurs when the fetus is developing where he/she inherits both of your strands of DNA that house the the CF mutation (can't recall the # right now). This situation is rare, only a few cases in the US so don't loose sleep over it.

It's more likely that you passed your 1 CF mutation onto her, and that is what showed up in the newborn screening.
 
J

julie

New member
when they did her newborn screening, did they find two mutations or just one. Your post has me assuming they found just one, is this correct?

Both of you need to be carriers for a child of yours to have CF unless there is some sort of RARE anomoly that occurs when the fetus is developing where he/she inherits both of your strands of DNA that house the the CF mutation (can't recall the # right now). This situation is rare, only a few cases in the US so don't loose sleep over it.

It's more likely that you passed your 1 CF mutation onto her, and that is what showed up in the newborn screening.
 
J

julie

New member
when they did her newborn screening, did they find two mutations or just one. Your post has me assuming they found just one, is this correct?

Both of you need to be carriers for a child of yours to have CF unless there is some sort of RARE anomoly that occurs when the fetus is developing where he/she inherits both of your strands of DNA that house the the CF mutation (can't recall the # right now). This situation is rare, only a few cases in the US so don't loose sleep over it.

It's more likely that you passed your 1 CF mutation onto her, and that is what showed up in the newborn screening.
 
J

julie

New member
when they did her newborn screening, did they find two mutations or just one. Your post has me assuming they found just one, is this correct?
<br />
<br />Both of you need to be carriers for a child of yours to have CF unless there is some sort of RARE anomoly that occurs when the fetus is developing where he/she inherits both of your strands of DNA that house the the CF mutation (can't recall the # right now). This situation is rare, only a few cases in the US so don't loose sleep over it.
<br />
<br />It's more likely that you passed your 1 CF mutation onto her, and that is what showed up in the newborn screening.
 
L

lilysmom09

Guest
Thanks for the information guys, we had our sweat test yesterday and baby lily is in fact just a carrier for cystic fibrosis. I assumed that newborn screenings just test for the mutations but instead i found out that they test for the protein IRT, her level was high, so they then did the dna testing which did show only one mutation, but was enough of a reason to order a sweat test....my hearts are with all of your families, it is definitley a scary situation not knowing, but i'm sure it is scary when you are directly in this situation. Good luck to all of you!
 
L

lilysmom09

Guest
Thanks for the information guys, we had our sweat test yesterday and baby lily is in fact just a carrier for cystic fibrosis. I assumed that newborn screenings just test for the mutations but instead i found out that they test for the protein IRT, her level was high, so they then did the dna testing which did show only one mutation, but was enough of a reason to order a sweat test....my hearts are with all of your families, it is definitley a scary situation not knowing, but i'm sure it is scary when you are directly in this situation. Good luck to all of you!
 
L

lilysmom09

Guest
Thanks for the information guys, we had our sweat test yesterday and baby lily is in fact just a carrier for cystic fibrosis. I assumed that newborn screenings just test for the mutations but instead i found out that they test for the protein IRT, her level was high, so they then did the dna testing which did show only one mutation, but was enough of a reason to order a sweat test....my hearts are with all of your families, it is definitley a scary situation not knowing, but i'm sure it is scary when you are directly in this situation. Good luck to all of you!
 
L

lilysmom09

Guest
Thanks for the information guys, we had our sweat test yesterday and baby lily is in fact just a carrier for cystic fibrosis. I assumed that newborn screenings just test for the mutations but instead i found out that they test for the protein IRT, her level was high, so they then did the dna testing which did show only one mutation, but was enough of a reason to order a sweat test....my hearts are with all of your families, it is definitley a scary situation not knowing, but i'm sure it is scary when you are directly in this situation. Good luck to all of you!
 
L

lilysmom09

Guest
Thanks for the information guys, we had our sweat test yesterday and baby lily is in fact just a carrier for cystic fibrosis. I assumed that newborn screenings just test for the mutations but instead i found out that they test for the protein IRT, her level was high, so they then did the dna testing which did show only one mutation, but was enough of a reason to order a sweat test....my hearts are with all of your families, it is definitley a scary situation not knowing, but i'm sure it is scary when you are directly in this situation. Good luck to all of you!
 
You must log in or register to reply here.
Top