Amnio diagnosis....now what happens?

P

pnut1975

New member
Hello all,

I am newly registered on this site. I am looking for some support and this seems like a good place to start. My wife and I both tested positive for the DF508 mutation. My wife is 20 weeks along with our first child (a girl). My wife was tested during a standard barrage of blood work and then they tested me. After we found out we were both positive carriers we proceeded to have the Amnio test done on the baby. We were informed last week that they found both gene mutations in the baby's cells. So at this point barring some false positive miracle (which is very very unlikely) our girl will be born with CF. My question is what happens next? I would assume that they will test her once she is born with the sweat test to confirm. Then what would come next? I have read a lot this week about the standard treatments that are designed to help lung function and digestion. I understand that there are better and worse degrees of severity so we will just have to keep our fingers crossed.

I would really love some information on who is a candidate for "Ataluren" and like CTFR Modulation treatments. From what I have read only about 10% of CF patients would benefit from this type of CTFR Modulation. How do you find out if you are one of the 10% that would benefit?

My wife and I have shed a lot of tears this week but I am trying to pull it together and make sure I am as informed as possible at every option. Thank you all for the help.
 
P

pnut1975

New member
Hello all,

I am newly registered on this site. I am looking for some support and this seems like a good place to start. My wife and I both tested positive for the DF508 mutation. My wife is 20 weeks along with our first child (a girl). My wife was tested during a standard barrage of blood work and then they tested me. After we found out we were both positive carriers we proceeded to have the Amnio test done on the baby. We were informed last week that they found both gene mutations in the baby's cells. So at this point barring some false positive miracle (which is very very unlikely) our girl will be born with CF. My question is what happens next? I would assume that they will test her once she is born with the sweat test to confirm. Then what would come next? I have read a lot this week about the standard treatments that are designed to help lung function and digestion. I understand that there are better and worse degrees of severity so we will just have to keep our fingers crossed.

I would really love some information on who is a candidate for "Ataluren" and like CTFR Modulation treatments. From what I have read only about 10% of CF patients would benefit from this type of CTFR Modulation. How do you find out if you are one of the 10% that would benefit?

My wife and I have shed a lot of tears this week but I am trying to pull it together and make sure I am as informed as possible at every option. Thank you all for the help.
 
P

pnut1975

New member
Hello all,

I am newly registered on this site. I am looking for some support and this seems like a good place to start. My wife and I both tested positive for the DF508 mutation. My wife is 20 weeks along with our first child (a girl). My wife was tested during a standard barrage of blood work and then they tested me. After we found out we were both positive carriers we proceeded to have the Amnio test done on the baby. We were informed last week that they found both gene mutations in the baby's cells. So at this point barring some false positive miracle (which is very very unlikely) our girl will be born with CF. My question is what happens next? I would assume that they will test her once she is born with the sweat test to confirm. Then what would come next? I have read a lot this week about the standard treatments that are designed to help lung function and digestion. I understand that there are better and worse degrees of severity so we will just have to keep our fingers crossed.

I would really love some information on who is a candidate for "Ataluren" and like CTFR Modulation treatments. From what I have read only about 10% of CF patients would benefit from this type of CTFR Modulation. How do you find out if you are one of the 10% that would benefit?

My wife and I have shed a lot of tears this week but I am trying to pull it together and make sure I am as informed as possible at every option. Thank you all for the help.
 
P

pnut1975

New member
Hello all,

I am newly registered on this site. I am looking for some support and this seems like a good place to start. My wife and I both tested positive for the DF508 mutation. My wife is 20 weeks along with our first child (a girl). My wife was tested during a standard barrage of blood work and then they tested me. After we found out we were both positive carriers we proceeded to have the Amnio test done on the baby. We were informed last week that they found both gene mutations in the baby's cells. So at this point barring some false positive miracle (which is very very unlikely) our girl will be born with CF. My question is what happens next? I would assume that they will test her once she is born with the sweat test to confirm. Then what would come next? I have read a lot this week about the standard treatments that are designed to help lung function and digestion. I understand that there are better and worse degrees of severity so we will just have to keep our fingers crossed.

I would really love some information on who is a candidate for "Ataluren" and like CTFR Modulation treatments. From what I have read only about 10% of CF patients would benefit from this type of CTFR Modulation. How do you find out if you are one of the 10% that would benefit?

My wife and I have shed a lot of tears this week but I am trying to pull it together and make sure I am as informed as possible at every option. Thank you all for the help.
 
P

pnut1975

New member
Hello all,
<br />
<br />I am newly registered on this site. I am looking for some support and this seems like a good place to start. My wife and I both tested positive for the DF508 mutation. My wife is 20 weeks along with our first child (a girl). My wife was tested during a standard barrage of blood work and then they tested me. After we found out we were both positive carriers we proceeded to have the Amnio test done on the baby. We were informed last week that they found both gene mutations in the baby's cells. So at this point barring some false positive miracle (which is very very unlikely) our girl will be born with CF. My question is what happens next? I would assume that they will test her once she is born with the sweat test to confirm. Then what would come next? I have read a lot this week about the standard treatments that are designed to help lung function and digestion. I understand that there are better and worse degrees of severity so we will just have to keep our fingers crossed.
<br />
<br />I would really love some information on who is a candidate for "Ataluren" and like CTFR Modulation treatments. From what I have read only about 10% of CF patients would benefit from this type of CTFR Modulation. How do you find out if you are one of the 10% that would benefit?
<br />
<br />My wife and I have shed a lot of tears this week but I am trying to pull it together and make sure I am as informed as possible at every option. Thank you all for the help.
 
M

mjsmama

New member
I just want to say welcome to the site. I know it is overwhelming and this is a great place because you can see that you're not completely alone. Being informed really helped us deal with everything after our son was born. (We also found out during pregnancy through blood tests that we were both carriers) Try and enjoy the rest of your pregnancy and treat it like the joyful occasion it is. We still have tearful moments but there is so much hope with the new meds they are working on.

Hugs to you and your wife.
 
M

mjsmama

New member
I just want to say welcome to the site. I know it is overwhelming and this is a great place because you can see that you're not completely alone. Being informed really helped us deal with everything after our son was born. (We also found out during pregnancy through blood tests that we were both carriers) Try and enjoy the rest of your pregnancy and treat it like the joyful occasion it is. We still have tearful moments but there is so much hope with the new meds they are working on.

Hugs to you and your wife.
 
M

mjsmama

New member
I just want to say welcome to the site. I know it is overwhelming and this is a great place because you can see that you're not completely alone. Being informed really helped us deal with everything after our son was born. (We also found out during pregnancy through blood tests that we were both carriers) Try and enjoy the rest of your pregnancy and treat it like the joyful occasion it is. We still have tearful moments but there is so much hope with the new meds they are working on.

Hugs to you and your wife.
 
M

mjsmama

New member
I just want to say welcome to the site. I know it is overwhelming and this is a great place because you can see that you're not completely alone. Being informed really helped us deal with everything after our son was born. (We also found out during pregnancy through blood tests that we were both carriers) Try and enjoy the rest of your pregnancy and treat it like the joyful occasion it is. We still have tearful moments but there is so much hope with the new meds they are working on.

Hugs to you and your wife.
 
M

mjsmama

New member
I just want to say welcome to the site. I know it is overwhelming and this is a great place because you can see that you're not completely alone. Being informed really helped us deal with everything after our son was born. (We also found out during pregnancy through blood tests that we were both carriers) Try and enjoy the rest of your pregnancy and treat it like the joyful occasion it is. We still have tearful moments but there is so much hope with the new meds they are working on.
<br />
<br />Hugs to you and your wife.
 
M

Mommafirst

Guest
Welcome to the place you never imagined you would need. A CF diagnosis is tremendously hard, but as much as it seems like it, it is not the end of the world and it is not the end of all your daughter can and will be.

Three years ago, my daughter was diagnosed at 5 months old. We knew from birth that Cf was a possibility because she was born with a meconium plug, but it took a few months to get all the testing done. I was scared and the world seemed to be horribly unfair. My husband and I were devestated. But today our daughter is a beautiful, smart, sassy, fun NORMAL three year old. She does all the things her brothers do. Yes we have more treatments and yes our life is complicated by the CF stuff, but overall, life can and will normalize for all of you.

I'm not really sure what you mean by atalauren, but I do know that there are some drugs that are being developed specifically for the DF508 mutation, so there is a large chance that your daughter will be a candidate for these VX drugs, assuming they prove to work as they are suspected to.

So what you do now is what you are doing. Find a way to come to terms with it. Educate yourself, as you've been doing. Knowledge is amazingly powerful with this disease, since there is a lot of great preventative treatments. Enjoy the remainder of this pregnancy and celebrate your daughter to be, if she is anything like all the CF kids and adults I've ever met. . . she'll be amazing!!!
 
M

Mommafirst

Guest
Welcome to the place you never imagined you would need. A CF diagnosis is tremendously hard, but as much as it seems like it, it is not the end of the world and it is not the end of all your daughter can and will be.

Three years ago, my daughter was diagnosed at 5 months old. We knew from birth that Cf was a possibility because she was born with a meconium plug, but it took a few months to get all the testing done. I was scared and the world seemed to be horribly unfair. My husband and I were devestated. But today our daughter is a beautiful, smart, sassy, fun NORMAL three year old. She does all the things her brothers do. Yes we have more treatments and yes our life is complicated by the CF stuff, but overall, life can and will normalize for all of you.

I'm not really sure what you mean by atalauren, but I do know that there are some drugs that are being developed specifically for the DF508 mutation, so there is a large chance that your daughter will be a candidate for these VX drugs, assuming they prove to work as they are suspected to.

So what you do now is what you are doing. Find a way to come to terms with it. Educate yourself, as you've been doing. Knowledge is amazingly powerful with this disease, since there is a lot of great preventative treatments. Enjoy the remainder of this pregnancy and celebrate your daughter to be, if she is anything like all the CF kids and adults I've ever met. . . she'll be amazing!!!
 
M

Mommafirst

Guest
Welcome to the place you never imagined you would need. A CF diagnosis is tremendously hard, but as much as it seems like it, it is not the end of the world and it is not the end of all your daughter can and will be.

Three years ago, my daughter was diagnosed at 5 months old. We knew from birth that Cf was a possibility because she was born with a meconium plug, but it took a few months to get all the testing done. I was scared and the world seemed to be horribly unfair. My husband and I were devestated. But today our daughter is a beautiful, smart, sassy, fun NORMAL three year old. She does all the things her brothers do. Yes we have more treatments and yes our life is complicated by the CF stuff, but overall, life can and will normalize for all of you.

I'm not really sure what you mean by atalauren, but I do know that there are some drugs that are being developed specifically for the DF508 mutation, so there is a large chance that your daughter will be a candidate for these VX drugs, assuming they prove to work as they are suspected to.

So what you do now is what you are doing. Find a way to come to terms with it. Educate yourself, as you've been doing. Knowledge is amazingly powerful with this disease, since there is a lot of great preventative treatments. Enjoy the remainder of this pregnancy and celebrate your daughter to be, if she is anything like all the CF kids and adults I've ever met. . . she'll be amazing!!!
 
M

Mommafirst

Guest
Welcome to the place you never imagined you would need. A CF diagnosis is tremendously hard, but as much as it seems like it, it is not the end of the world and it is not the end of all your daughter can and will be.

Three years ago, my daughter was diagnosed at 5 months old. We knew from birth that Cf was a possibility because she was born with a meconium plug, but it took a few months to get all the testing done. I was scared and the world seemed to be horribly unfair. My husband and I were devestated. But today our daughter is a beautiful, smart, sassy, fun NORMAL three year old. She does all the things her brothers do. Yes we have more treatments and yes our life is complicated by the CF stuff, but overall, life can and will normalize for all of you.

I'm not really sure what you mean by atalauren, but I do know that there are some drugs that are being developed specifically for the DF508 mutation, so there is a large chance that your daughter will be a candidate for these VX drugs, assuming they prove to work as they are suspected to.

So what you do now is what you are doing. Find a way to come to terms with it. Educate yourself, as you've been doing. Knowledge is amazingly powerful with this disease, since there is a lot of great preventative treatments. Enjoy the remainder of this pregnancy and celebrate your daughter to be, if she is anything like all the CF kids and adults I've ever met. . . she'll be amazing!!!
 
M

Mommafirst

Guest
Welcome to the place you never imagined you would need. A CF diagnosis is tremendously hard, but as much as it seems like it, it is not the end of the world and it is not the end of all your daughter can and will be.
<br />
<br />Three years ago, my daughter was diagnosed at 5 months old. We knew from birth that Cf was a possibility because she was born with a meconium plug, but it took a few months to get all the testing done. I was scared and the world seemed to be horribly unfair. My husband and I were devestated. But today our daughter is a beautiful, smart, sassy, fun NORMAL three year old. She does all the things her brothers do. Yes we have more treatments and yes our life is complicated by the CF stuff, but overall, life can and will normalize for all of you.
<br />
<br />I'm not really sure what you mean by atalauren, but I do know that there are some drugs that are being developed specifically for the DF508 mutation, so there is a large chance that your daughter will be a candidate for these VX drugs, assuming they prove to work as they are suspected to.
<br />
<br />So what you do now is what you are doing. Find a way to come to terms with it. Educate yourself, as you've been doing. Knowledge is amazingly powerful with this disease, since there is a lot of great preventative treatments. Enjoy the remainder of this pregnancy and celebrate your daughter to be, if she is anything like all the CF kids and adults I've ever met. . . she'll be amazing!!!
 
K

kaylee04cassidy08

Guest
I have been there. Boy have we all been there. My sweet little Cassidy was dx prenatally. Nothing really changes in the prenatal care other than your docs may do extra ultrasounds to monitor the bowels for obstruction. I had ultrasounds every month after her dx because of this. She was born without obstruction tho - so it just depends.

Have they referred you to a CF center yet? I made an appointment to meet with all the team and tour the facility prior to Cassidy's birth.

Depending on what state you live in the newborn screening should "catch" the cf. Ours did. They will confirm everything either way with a sweat test. Mistakes could theoretically happen on the genetic tests, but I decided that it was more productive to accept the results and prepare for her life with CF than to hold on to the minute possibility there had been a mistake. (Even though A LOT of my family members tried to push that idea on me...I think that made it easier for them?)

Depending on your doctor - you may begin treatment immediately or it may wait a little while. Chances are very much that your baby will need enzymes immediately with the DDF508. This is not as bad as it sounds....until she is 1 or 2 and tells you NO! she will not take them!

Hang in there and this site is a great place to post or even just read. We have all been there. Please read my older post - A Short Walk on the Road Less Traveled. It just tells our story so far. Good luck. Hugs to you and your wife.

It does get easier. I promise.
 
K

kaylee04cassidy08

Guest
I have been there. Boy have we all been there. My sweet little Cassidy was dx prenatally. Nothing really changes in the prenatal care other than your docs may do extra ultrasounds to monitor the bowels for obstruction. I had ultrasounds every month after her dx because of this. She was born without obstruction tho - so it just depends.

Have they referred you to a CF center yet? I made an appointment to meet with all the team and tour the facility prior to Cassidy's birth.

Depending on what state you live in the newborn screening should "catch" the cf. Ours did. They will confirm everything either way with a sweat test. Mistakes could theoretically happen on the genetic tests, but I decided that it was more productive to accept the results and prepare for her life with CF than to hold on to the minute possibility there had been a mistake. (Even though A LOT of my family members tried to push that idea on me...I think that made it easier for them?)

Depending on your doctor - you may begin treatment immediately or it may wait a little while. Chances are very much that your baby will need enzymes immediately with the DDF508. This is not as bad as it sounds....until she is 1 or 2 and tells you NO! she will not take them!

Hang in there and this site is a great place to post or even just read. We have all been there. Please read my older post - A Short Walk on the Road Less Traveled. It just tells our story so far. Good luck. Hugs to you and your wife.

It does get easier. I promise.
 
K

kaylee04cassidy08

Guest
I have been there. Boy have we all been there. My sweet little Cassidy was dx prenatally. Nothing really changes in the prenatal care other than your docs may do extra ultrasounds to monitor the bowels for obstruction. I had ultrasounds every month after her dx because of this. She was born without obstruction tho - so it just depends.

Have they referred you to a CF center yet? I made an appointment to meet with all the team and tour the facility prior to Cassidy's birth.

Depending on what state you live in the newborn screening should "catch" the cf. Ours did. They will confirm everything either way with a sweat test. Mistakes could theoretically happen on the genetic tests, but I decided that it was more productive to accept the results and prepare for her life with CF than to hold on to the minute possibility there had been a mistake. (Even though A LOT of my family members tried to push that idea on me...I think that made it easier for them?)

Depending on your doctor - you may begin treatment immediately or it may wait a little while. Chances are very much that your baby will need enzymes immediately with the DDF508. This is not as bad as it sounds....until she is 1 or 2 and tells you NO! she will not take them!

Hang in there and this site is a great place to post or even just read. We have all been there. Please read my older post - A Short Walk on the Road Less Traveled. It just tells our story so far. Good luck. Hugs to you and your wife.

It does get easier. I promise.
 
K

kaylee04cassidy08

Guest
I have been there. Boy have we all been there. My sweet little Cassidy was dx prenatally. Nothing really changes in the prenatal care other than your docs may do extra ultrasounds to monitor the bowels for obstruction. I had ultrasounds every month after her dx because of this. She was born without obstruction tho - so it just depends.

Have they referred you to a CF center yet? I made an appointment to meet with all the team and tour the facility prior to Cassidy's birth.

Depending on what state you live in the newborn screening should "catch" the cf. Ours did. They will confirm everything either way with a sweat test. Mistakes could theoretically happen on the genetic tests, but I decided that it was more productive to accept the results and prepare for her life with CF than to hold on to the minute possibility there had been a mistake. (Even though A LOT of my family members tried to push that idea on me...I think that made it easier for them?)

Depending on your doctor - you may begin treatment immediately or it may wait a little while. Chances are very much that your baby will need enzymes immediately with the DDF508. This is not as bad as it sounds....until she is 1 or 2 and tells you NO! she will not take them!

Hang in there and this site is a great place to post or even just read. We have all been there. Please read my older post - A Short Walk on the Road Less Traveled. It just tells our story so far. Good luck. Hugs to you and your wife.

It does get easier. I promise.
 
K

kaylee04cassidy08

Guest
I have been there. Boy have we all been there. My sweet little Cassidy was dx prenatally. Nothing really changes in the prenatal care other than your docs may do extra ultrasounds to monitor the bowels for obstruction. I had ultrasounds every month after her dx because of this. She was born without obstruction tho - so it just depends.
<br />
<br />Have they referred you to a CF center yet? I made an appointment to meet with all the team and tour the facility prior to Cassidy's birth.
<br />
<br />Depending on what state you live in the newborn screening should "catch" the cf. Ours did. They will confirm everything either way with a sweat test. Mistakes could theoretically happen on the genetic tests, but I decided that it was more productive to accept the results and prepare for her life with CF than to hold on to the minute possibility there had been a mistake. (Even though A LOT of my family members tried to push that idea on me...I think that made it easier for them?)
<br />
<br />Depending on your doctor - you may begin treatment immediately or it may wait a little while. Chances are very much that your baby will need enzymes immediately with the DDF508. This is not as bad as it sounds....until she is 1 or 2 and tells you NO! she will not take them!
<br />
<br />Hang in there and this site is a great place to post or even just read. We have all been there. Please read my older post - A Short Walk on the Road Less Traveled. It just tells our story so far. Good luck. Hugs to you and your wife.
<br />
<br />It does get easier. I promise.
 
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