Please help me, im losing it

mneville · Oct 5, 2008

I can only imagine how frustrating it is to wait. Our firstborn was diagnosed through newborn screening. We had no idea we were carriers. We got a call from his doctor and it was clearly positive for two Delta F508 genes which definitely meant CF. From my understanding, they test the IRT levels and look for the most common genes in newborn screen. If they find one gene, they look for another. In our son's case, both of the genes came up because they were the most common. He is 4 now and doing great.

With our second son, we conceived him through IVF/PGD. We knew he might be a carrier. His cord blood was tested at birth and 10 days later we found he was only a carrier. However, I had asked the doctor if carriers sometimes come back positive on newborn screening and he said yes. Now, in Gavin's case, it did not. His newborn screen was normal but it can happen. So try not to fear the worst until you get final results. I would ask for copies of your baby's newborn screen results. Best of luck.

Megan, mom to Aidan CF and Gavin no CF

mneville · Oct 5, 2008

I can only imagine how frustrating it is to wait. Our firstborn was diagnosed through newborn screening. We had no idea we were carriers. We got a call from his doctor and it was clearly positive for two Delta F508 genes which definitely meant CF. From my understanding, they test the IRT levels and look for the most common genes in newborn screen. If they find one gene, they look for another. In our son's case, both of the genes came up because they were the most common. He is 4 now and doing great.

With our second son, we conceived him through IVF/PGD. We knew he might be a carrier. His cord blood was tested at birth and 10 days later we found he was only a carrier. However, I had asked the doctor if carriers sometimes come back positive on newborn screening and he said yes. Now, in Gavin's case, it did not. His newborn screen was normal but it can happen. So try not to fear the worst until you get final results. I would ask for copies of your baby's newborn screen results. Best of luck.

Megan, mom to Aidan CF and Gavin no CF

mneville · Oct 5, 2008

I can only imagine how frustrating it is to wait. Our firstborn was diagnosed through newborn screening. We had no idea we were carriers. We got a call from his doctor and it was clearly positive for two Delta F508 genes which definitely meant CF. From my understanding, they test the IRT levels and look for the most common genes in newborn screen. If they find one gene, they look for another. In our son's case, both of the genes came up because they were the most common. He is 4 now and doing great.

With our second son, we conceived him through IVF/PGD. We knew he might be a carrier. His cord blood was tested at birth and 10 days later we found he was only a carrier. However, I had asked the doctor if carriers sometimes come back positive on newborn screening and he said yes. Now, in Gavin's case, it did not. His newborn screen was normal but it can happen. So try not to fear the worst until you get final results. I would ask for copies of your baby's newborn screen results. Best of luck.

Megan, mom to Aidan CF and Gavin no CF

mneville · Oct 5, 2008

I can only imagine how frustrating it is to wait. Our firstborn was diagnosed through newborn screening. We had no idea we were carriers. We got a call from his doctor and it was clearly positive for two Delta F508 genes which definitely meant CF. From my understanding, they test the IRT levels and look for the most common genes in newborn screen. If they find one gene, they look for another. In our son's case, both of the genes came up because they were the most common. He is 4 now and doing great.

With our second son, we conceived him through IVF/PGD. We knew he might be a carrier. His cord blood was tested at birth and 10 days later we found he was only a carrier. However, I had asked the doctor if carriers sometimes come back positive on newborn screening and he said yes. Now, in Gavin's case, it did not. His newborn screen was normal but it can happen. So try not to fear the worst until you get final results. I would ask for copies of your baby's newborn screen results. Best of luck.

Megan, mom to Aidan CF and Gavin no CF

mneville · Oct 5, 2008

I can only imagine how frustrating it is to wait. Our firstborn was diagnosed through newborn screening. We had no idea we were carriers. We got a call from his doctor and it was clearly positive for two Delta F508 genes which definitely meant CF. From my understanding, they test the IRT levels and look for the most common genes in newborn screen. If they find one gene, they look for another. In our son's case, both of the genes came up because they were the most common. He is 4 now and doing great.
 
 With our second son, we conceived him through IVF/PGD. We knew he might be a carrier. His cord blood was tested at birth and 10 days later we found he was only a carrier. However, I had asked the doctor if carriers sometimes come back positive on newborn screening and he said yes. Now, in Gavin's case, it did not. His newborn screen was normal but it can happen. So try not to fear the worst until you get final results. I would ask for copies of your baby's newborn screen results. Best of luck.
 
 Megan, mom to Aidan CF and Gavin no CF

PlumPerfect · Oct 5, 2008

When I had Brandon I noticed odd things, that the hospital dissmissed becase he was gaining weight. shortly after being home and enjoying him we got a call from our family dr. saying they wanted to see him sooner than the 4 week check because the cf posibility... I had no clue and was hit by a mack truck at that moment.. there were really no answers except he test positive for 2 gene mutations.. at that time all my research told me he had it, but the nurse i called back said there was a small chance he didn't have it...

we recieved a package on our doorstep that came from the state showing the reuslt and stated YOUR CHILD MOST LIKELY HAS CF.. still no 100% answers

we visited the family dr. and he said he had it and he would get in contact with a cf clinic.we cried and the silly nurse came in and said she would be pryaing that he is just a carrier.. this confused us and we asked if there was a chance he didn't have it and she said yes.. so we were filled wiht a small hope.

we ( 1 week later ) went to the cf clinic and that dr. pretty much said he test positive for 2 genes that means he has it.. in a verry extremely rare case he may not have it but don't count on it. she started him on treatments and enzymes and we just knew then he did have it.. he got a sweat test the next day and he tested at 100%.

so to answer your question you have 50% chance right now if your child has it.. if they do they would have an uncommon gene mutation that would not show up in the newborn screen of common genes. with that said you can know now that your child is a carrier with one gene, which will not affect anything till they go to have children of thier own. there is still good hope in your situation and if not and your lo does have it it is not a death sentance by any means and I bet aftere one look into you babys eyes no matter the case you would never trade her. so try to jus enjoy a cf free life at the moment and you will have answers soon... I know they are never soon enough and when its your child you want everyone to drop everything to figure it out... sadly that doesn't happen and you have to wait for appointments and test results.

PlumPerfect · Oct 5, 2008

When I had Brandon I noticed odd things, that the hospital dissmissed becase he was gaining weight. shortly after being home and enjoying him we got a call from our family dr. saying they wanted to see him sooner than the 4 week check because the cf posibility... I had no clue and was hit by a mack truck at that moment.. there were really no answers except he test positive for 2 gene mutations.. at that time all my research told me he had it, but the nurse i called back said there was a small chance he didn't have it...

we recieved a package on our doorstep that came from the state showing the reuslt and stated YOUR CHILD MOST LIKELY HAS CF.. still no 100% answers

we visited the family dr. and he said he had it and he would get in contact with a cf clinic.we cried and the silly nurse came in and said she would be pryaing that he is just a carrier.. this confused us and we asked if there was a chance he didn't have it and she said yes.. so we were filled wiht a small hope.

we ( 1 week later ) went to the cf clinic and that dr. pretty much said he test positive for 2 genes that means he has it.. in a verry extremely rare case he may not have it but don't count on it. she started him on treatments and enzymes and we just knew then he did have it.. he got a sweat test the next day and he tested at 100%.

so to answer your question you have 50% chance right now if your child has it.. if they do they would have an uncommon gene mutation that would not show up in the newborn screen of common genes. with that said you can know now that your child is a carrier with one gene, which will not affect anything till they go to have children of thier own. there is still good hope in your situation and if not and your lo does have it it is not a death sentance by any means and I bet aftere one look into you babys eyes no matter the case you would never trade her. so try to jus enjoy a cf free life at the moment and you will have answers soon... I know they are never soon enough and when its your child you want everyone to drop everything to figure it out... sadly that doesn't happen and you have to wait for appointments and test results.

PlumPerfect · Oct 5, 2008

When I had Brandon I noticed odd things, that the hospital dissmissed becase he was gaining weight. shortly after being home and enjoying him we got a call from our family dr. saying they wanted to see him sooner than the 4 week check because the cf posibility... I had no clue and was hit by a mack truck at that moment.. there were really no answers except he test positive for 2 gene mutations.. at that time all my research told me he had it, but the nurse i called back said there was a small chance he didn't have it...

we recieved a package on our doorstep that came from the state showing the reuslt and stated YOUR CHILD MOST LIKELY HAS CF.. still no 100% answers

we visited the family dr. and he said he had it and he would get in contact with a cf clinic.we cried and the silly nurse came in and said she would be pryaing that he is just a carrier.. this confused us and we asked if there was a chance he didn't have it and she said yes.. so we were filled wiht a small hope.

we ( 1 week later ) went to the cf clinic and that dr. pretty much said he test positive for 2 genes that means he has it.. in a verry extremely rare case he may not have it but don't count on it. she started him on treatments and enzymes and we just knew then he did have it.. he got a sweat test the next day and he tested at 100%.

so to answer your question you have 50% chance right now if your child has it.. if they do they would have an uncommon gene mutation that would not show up in the newborn screen of common genes. with that said you can know now that your child is a carrier with one gene, which will not affect anything till they go to have children of thier own. there is still good hope in your situation and if not and your lo does have it it is not a death sentance by any means and I bet aftere one look into you babys eyes no matter the case you would never trade her. so try to jus enjoy a cf free life at the moment and you will have answers soon... I know they are never soon enough and when its your child you want everyone to drop everything to figure it out... sadly that doesn't happen and you have to wait for appointments and test results.

PlumPerfect · Oct 5, 2008

When I had Brandon I noticed odd things, that the hospital dissmissed becase he was gaining weight. shortly after being home and enjoying him we got a call from our family dr. saying they wanted to see him sooner than the 4 week check because the cf posibility... I had no clue and was hit by a mack truck at that moment.. there were really no answers except he test positive for 2 gene mutations.. at that time all my research told me he had it, but the nurse i called back said there was a small chance he didn't have it...

we recieved a package on our doorstep that came from the state showing the reuslt and stated YOUR CHILD MOST LIKELY HAS CF.. still no 100% answers

we visited the family dr. and he said he had it and he would get in contact with a cf clinic.we cried and the silly nurse came in and said she would be pryaing that he is just a carrier.. this confused us and we asked if there was a chance he didn't have it and she said yes.. so we were filled wiht a small hope.

we ( 1 week later ) went to the cf clinic and that dr. pretty much said he test positive for 2 genes that means he has it.. in a verry extremely rare case he may not have it but don't count on it. she started him on treatments and enzymes and we just knew then he did have it.. he got a sweat test the next day and he tested at 100%.

so to answer your question you have 50% chance right now if your child has it.. if they do they would have an uncommon gene mutation that would not show up in the newborn screen of common genes. with that said you can know now that your child is a carrier with one gene, which will not affect anything till they go to have children of thier own. there is still good hope in your situation and if not and your lo does have it it is not a death sentance by any means and I bet aftere one look into you babys eyes no matter the case you would never trade her. so try to jus enjoy a cf free life at the moment and you will have answers soon... I know they are never soon enough and when its your child you want everyone to drop everything to figure it out... sadly that doesn't happen and you have to wait for appointments and test results.

PlumPerfect · Oct 5, 2008

When I had Brandon I noticed odd things, that the hospital dissmissed becase he was gaining weight. shortly after being home and enjoying him we got a call from our family dr. saying they wanted to see him sooner than the 4 week check because the cf posibility... I had no clue and was hit by a mack truck at that moment.. there were really no answers except he test positive for 2 gene mutations.. at that time all my research told me he had it, but the nurse i called back said there was a small chance he didn't have it...
 
 we recieved a package on our doorstep that came from the state showing the reuslt and stated YOUR CHILD MOST LIKELY HAS CF.. still no 100% answers
 
 we visited the family dr. and he said he had it and he would get in contact with a cf clinic.we cried and the silly nurse came in and said she would be pryaing that he is just a carrier.. this confused us and we asked if there was a chance he didn't have it and she said yes.. so we were filled wiht a small hope.
 
 we ( 1 week later ) went to the cf clinic and that dr. pretty much said he test positive for 2 genes that means he has it.. in a verry extremely rare case he may not have it but don't count on it. she started him on treatments and enzymes and we just knew then he did have it.. he got a sweat test the next day and he tested at 100%.
 
 so to answer your question you have 50% chance right now if your child has it.. if they do they would have an uncommon gene mutation that would not show up in the newborn screen of common genes. with that said you can know now that your child is a carrier with one gene, which will not affect anything till they go to have children of thier own. there is still good hope in your situation and if not and your lo does have it it is not a death sentance by any means and I bet aftere one look into you babys eyes no matter the case you would never trade her. so try to jus enjoy a cf free life at the moment and you will have answers soon... I know they are never soon enough and when its your child you want everyone to drop everything to figure it out... sadly that doesn't happen and you have to wait for appointments and test results.

melissa81 · Oct 6, 2008

Thanks everyone for helping me.

I went to the doctor today and she has gained an ounce a day since last week.. which i think is pretty good...

The dr said that the newborn screen detected a mutation... not a gene? Does that make sense?

Oh man. Im doing better than i was yesterday but i hate having this feeling, waiting and worrying.

I just pray to god she is okay.

Does one mutation mean if she didnt show for cf, mean she is a carrier for sure?
Im confused between gene and mutation.

melissa81 · Oct 6, 2008

Thanks everyone for helping me.

I went to the doctor today and she has gained an ounce a day since last week.. which i think is pretty good...

The dr said that the newborn screen detected a mutation... not a gene? Does that make sense?

Oh man. Im doing better than i was yesterday but i hate having this feeling, waiting and worrying.

I just pray to god she is okay.

Does one mutation mean if she didnt show for cf, mean she is a carrier for sure?
Im confused between gene and mutation.

melissa81 · Oct 6, 2008

Thanks everyone for helping me.

I went to the doctor today and she has gained an ounce a day since last week.. which i think is pretty good...

The dr said that the newborn screen detected a mutation... not a gene? Does that make sense?

Oh man. Im doing better than i was yesterday but i hate having this feeling, waiting and worrying.

I just pray to god she is okay.

Does one mutation mean if she didnt show for cf, mean she is a carrier for sure?
Im confused between gene and mutation.

melissa81 · Oct 6, 2008

Thanks everyone for helping me.

I went to the doctor today and she has gained an ounce a day since last week.. which i think is pretty good...

The dr said that the newborn screen detected a mutation... not a gene? Does that make sense?

Oh man. Im doing better than i was yesterday but i hate having this feeling, waiting and worrying.

I just pray to god she is okay.

Does one mutation mean if she didnt show for cf, mean she is a carrier for sure?
Im confused between gene and mutation.

melissa81 · Oct 6, 2008

Thanks everyone for helping me.
 
 I went to the doctor today and she has gained an ounce a day since last week.. which i think is pretty good...
 
 The dr said that the newborn screen detected a mutation... not a gene? Does that make sense?
 
 Oh man. Im doing better than i was yesterday but i hate having this feeling, waiting and worrying.
 
 I just pray to god she is okay.
 
 Does one mutation mean if she didnt show for cf, mean she is a carrier for sure?
 Im confused between gene and mutation.

Alyssa · Oct 7, 2008

It is my understanding that when talking about CF, genes and mutations... it is generally referred to as the same thing - if you have a CF gene, you really mean you have a CF mutation. The gene has mutated ... nothing really to get hung up on, just a matter of how a person phrases it, but the meaning is the same. So, not I don't think it means anything different if he said she has one gene or one mutation... the important part is ONE, not two.

To tell you the truth, from what you have said....I'm still confused as well

Not sure what type of screening they are talking about, because if they know she has one mutation, I would think that means they have done a genetic screening, not the newborn screening for IRTs.

I'm glad you are doing better. Please try to keep that up!

Alyssa · Oct 7, 2008

It is my understanding that when talking about CF, genes and mutations... it is generally referred to as the same thing - if you have a CF gene, you really mean you have a CF mutation. The gene has mutated ... nothing really to get hung up on, just a matter of how a person phrases it, but the meaning is the same. So, not I don't think it means anything different if he said she has one gene or one mutation... the important part is ONE, not two.

To tell you the truth, from what you have said....I'm still confused as well

Not sure what type of screening they are talking about, because if they know she has one mutation, I would think that means they have done a genetic screening, not the newborn screening for IRTs.

I'm glad you are doing better. Please try to keep that up!

Alyssa · Oct 7, 2008

It is my understanding that when talking about CF, genes and mutations... it is generally referred to as the same thing - if you have a CF gene, you really mean you have a CF mutation. The gene has mutated ... nothing really to get hung up on, just a matter of how a person phrases it, but the meaning is the same. So, not I don't think it means anything different if he said she has one gene or one mutation... the important part is ONE, not two.

To tell you the truth, from what you have said....I'm still confused as well

Not sure what type of screening they are talking about, because if they know she has one mutation, I would think that means they have done a genetic screening, not the newborn screening for IRTs.

I'm glad you are doing better. Please try to keep that up!

Alyssa · Oct 7, 2008

It is my understanding that when talking about CF, genes and mutations... it is generally referred to as the same thing - if you have a CF gene, you really mean you have a CF mutation. The gene has mutated ... nothing really to get hung up on, just a matter of how a person phrases it, but the meaning is the same. So, not I don't think it means anything different if he said she has one gene or one mutation... the important part is ONE, not two.

To tell you the truth, from what you have said....I'm still confused as well

Not sure what type of screening they are talking about, because if they know she has one mutation, I would think that means they have done a genetic screening, not the newborn screening for IRTs.

I'm glad you are doing better. Please try to keep that up!

Alyssa · Oct 7, 2008

It is my understanding that when talking about CF, genes and mutations... it is generally referred to as the same thing - if you have a CF gene, you really mean you have a CF mutation. The gene has mutated ... nothing really to get hung up on, just a matter of how a person phrases it, but the meaning is the same. So, not I don't think it means anything different if he said she has one gene or one mutation... the important part is ONE, not two.
 
 To tell you the truth, from what you have said....I'm still confused as well

Not sure what type of screening they are talking about, because if they know she has one mutation, I would think that means they have done a genetic screening, not the newborn screening for IRTs.
 
 I'm glad you are doing better. Please try to keep that up!

Please help me, im losing it

mneville

Guest

mneville

Guest

mneville

Guest

mneville

Guest

mneville

Guest

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member

New member