Baby diagnosed this week...trying to cope

twinluv29 · Oct 18, 2009

My husband and I are new parents to two beautiful 3 1/2 month old twin boys. My younger twin had a meconium ileus twenty four hours after birth and needed to have two surgeries to allow his small intestines to function properly. The ileus tipped off his medical team that he could have CF, but after two failed sweat tests, his physicians were reluctant to diagnose him.

We recently had a comprehensive genetic test conducted (a full blown panel of Ambry testing) and it confirmed that he only has 1 CF mutation (D508). However, clinically, his pancreatic enzymes are low and they detected the pseudomonas bacteria in his system. As a result, his physician who specializes in CF is moving forward with treating and diagnosing him with CF. They are now testing my other twin, as well.

Words fall short in describing the depth of our sadness and devastation. We're taking it moment by moment right now.

We wanted to reach out and ask the following questions:

1. How can someone have CF when only 1 CF mutation can be found? Has anyone experienced this before?

2. For those of you who are parents of a child with CF, did you need to reduce your work hours or decide to stay home full-time with your child/children to care for your child with CF? I currently work full-time, but after my son's diagnosis this week and the amount of doctors' visits we've had already, I'd like to work less to be there for my family. I'd like to know how others have dealt with this situation.

Thank you so much for anyone who can offer your personal insights or thoughts regarding how to cope during this difficult time.

twinluv29 · Oct 18, 2009

My husband and I are new parents to two beautiful 3 1/2 month old twin boys. My younger twin had a meconium ileus twenty four hours after birth and needed to have two surgeries to allow his small intestines to function properly. The ileus tipped off his medical team that he could have CF, but after two failed sweat tests, his physicians were reluctant to diagnose him.

We recently had a comprehensive genetic test conducted (a full blown panel of Ambry testing) and it confirmed that he only has 1 CF mutation (D508). However, clinically, his pancreatic enzymes are low and they detected the pseudomonas bacteria in his system. As a result, his physician who specializes in CF is moving forward with treating and diagnosing him with CF. They are now testing my other twin, as well.

Words fall short in describing the depth of our sadness and devastation. We're taking it moment by moment right now.

We wanted to reach out and ask the following questions:

1. How can someone have CF when only 1 CF mutation can be found? Has anyone experienced this before?

2. For those of you who are parents of a child with CF, did you need to reduce your work hours or decide to stay home full-time with your child/children to care for your child with CF? I currently work full-time, but after my son's diagnosis this week and the amount of doctors' visits we've had already, I'd like to work less to be there for my family. I'd like to know how others have dealt with this situation.

Thank you so much for anyone who can offer your personal insights or thoughts regarding how to cope during this difficult time.

twinluv29 · Oct 18, 2009

My husband and I are new parents to two beautiful 3 1/2 month old twin boys. My younger twin had a meconium ileus twenty four hours after birth and needed to have two surgeries to allow his small intestines to function properly. The ileus tipped off his medical team that he could have CF, but after two failed sweat tests, his physicians were reluctant to diagnose him.

We recently had a comprehensive genetic test conducted (a full blown panel of Ambry testing) and it confirmed that he only has 1 CF mutation (D508). However, clinically, his pancreatic enzymes are low and they detected the pseudomonas bacteria in his system. As a result, his physician who specializes in CF is moving forward with treating and diagnosing him with CF. They are now testing my other twin, as well.

Words fall short in describing the depth of our sadness and devastation. We're taking it moment by moment right now.

We wanted to reach out and ask the following questions:

1. How can someone have CF when only 1 CF mutation can be found? Has anyone experienced this before?

2. For those of you who are parents of a child with CF, did you need to reduce your work hours or decide to stay home full-time with your child/children to care for your child with CF? I currently work full-time, but after my son's diagnosis this week and the amount of doctors' visits we've had already, I'd like to work less to be there for my family. I'd like to know how others have dealt with this situation.

Thank you so much for anyone who can offer your personal insights or thoughts regarding how to cope during this difficult time.

twinluv29 · Oct 18, 2009

My husband and I are new parents to two beautiful 3 1/2 month old twin boys. My younger twin had a meconium ileus twenty four hours after birth and needed to have two surgeries to allow his small intestines to function properly. The ileus tipped off his medical team that he could have CF, but after two failed sweat tests, his physicians were reluctant to diagnose him.

We recently had a comprehensive genetic test conducted (a full blown panel of Ambry testing) and it confirmed that he only has 1 CF mutation (D508). However, clinically, his pancreatic enzymes are low and they detected the pseudomonas bacteria in his system. As a result, his physician who specializes in CF is moving forward with treating and diagnosing him with CF. They are now testing my other twin, as well.

Words fall short in describing the depth of our sadness and devastation. We're taking it moment by moment right now.

We wanted to reach out and ask the following questions:

1. How can someone have CF when only 1 CF mutation can be found? Has anyone experienced this before?

2. For those of you who are parents of a child with CF, did you need to reduce your work hours or decide to stay home full-time with your child/children to care for your child with CF? I currently work full-time, but after my son's diagnosis this week and the amount of doctors' visits we've had already, I'd like to work less to be there for my family. I'd like to know how others have dealt with this situation.

Thank you so much for anyone who can offer your personal insights or thoughts regarding how to cope during this difficult time.

twinluv29 · Oct 18, 2009

My husband and I are new parents to two beautiful 3 1/2 month old twin boys. My younger twin had a meconium ileus twenty four hours after birth and needed to have two surgeries to allow his small intestines to function properly. The ileus tipped off his medical team that he could have CF, but after two failed sweat tests, his physicians were reluctant to diagnose him.
 
 We recently had a comprehensive genetic test conducted (a full blown panel of Ambry testing) and it confirmed that he only has 1 CF mutation (D508). However, clinically, his pancreatic enzymes are low and they detected the pseudomonas bacteria in his system. As a result, his physician who specializes in CF is moving forward with treating and diagnosing him with CF. They are now testing my other twin, as well.
 
 Words fall short in describing the depth of our sadness and devastation. We're taking it moment by moment right now.
 
 We wanted to reach out and ask the following questions:
 
 1. How can someone have CF when only 1 CF mutation can be found? Has anyone experienced this before?
 
 2. For those of you who are parents of a child with CF, did you need to reduce your work hours or decide to stay home full-time with your child/children to care for your child with CF? I currently work full-time, but after my son's diagnosis this week and the amount of doctors' visits we've had already, I'd like to work less to be there for my family. I'd like to know how others have dealt with this situation.
 
 Thank you so much for anyone who can offer your personal insights or thoughts regarding how to cope during this difficult time.

Mommafirst · Oct 18, 2009

Welcome to the place you never thought you'd need. There are dozens and dozens of us moms who have been in your place. WE know the feelings that words can't adequately begin to explain of hearing that your beloved child has cystic fibrosis.

There are quite a few on this site who have gotten CF diagnosis based on 1 mutation and symptoms. Most likely, there is a second gene that is not detectable, but since we aren't in that situation I won't assume to understand that.

I am a college professor, so I work full time, but more on a part time type schedule. It has worked out fine with my daughter and my other kids. My job is pretty flexible, so I have not run into problems for doctor visits or hospital stays -- a more rigid profession might require you to consider reducing your hours.

I know you are overwhelmed and emotional over all this. I sure know I was. I don't know if it helps for me to tell you, but I will, that it gets easier....it really does. My daughter is a beautiful, smart, funny, and special 3.5 year old. Her CF is only a very small part of her and her life is largely normal, minus some extra time and energy for treatments and occasional hospital stays. You CAN do this, and it will get easier.

Hang in there and be good to yourself. (((HUGS))))

Mommafirst · Oct 18, 2009

Welcome to the place you never thought you'd need. There are dozens and dozens of us moms who have been in your place. WE know the feelings that words can't adequately begin to explain of hearing that your beloved child has cystic fibrosis.

There are quite a few on this site who have gotten CF diagnosis based on 1 mutation and symptoms. Most likely, there is a second gene that is not detectable, but since we aren't in that situation I won't assume to understand that.

I am a college professor, so I work full time, but more on a part time type schedule. It has worked out fine with my daughter and my other kids. My job is pretty flexible, so I have not run into problems for doctor visits or hospital stays -- a more rigid profession might require you to consider reducing your hours.

I know you are overwhelmed and emotional over all this. I sure know I was. I don't know if it helps for me to tell you, but I will, that it gets easier....it really does. My daughter is a beautiful, smart, funny, and special 3.5 year old. Her CF is only a very small part of her and her life is largely normal, minus some extra time and energy for treatments and occasional hospital stays. You CAN do this, and it will get easier.

Hang in there and be good to yourself. (((HUGS))))

Mommafirst · Oct 18, 2009

Welcome to the place you never thought you'd need. There are dozens and dozens of us moms who have been in your place. WE know the feelings that words can't adequately begin to explain of hearing that your beloved child has cystic fibrosis.

There are quite a few on this site who have gotten CF diagnosis based on 1 mutation and symptoms. Most likely, there is a second gene that is not detectable, but since we aren't in that situation I won't assume to understand that.

I am a college professor, so I work full time, but more on a part time type schedule. It has worked out fine with my daughter and my other kids. My job is pretty flexible, so I have not run into problems for doctor visits or hospital stays -- a more rigid profession might require you to consider reducing your hours.

I know you are overwhelmed and emotional over all this. I sure know I was. I don't know if it helps for me to tell you, but I will, that it gets easier....it really does. My daughter is a beautiful, smart, funny, and special 3.5 year old. Her CF is only a very small part of her and her life is largely normal, minus some extra time and energy for treatments and occasional hospital stays. You CAN do this, and it will get easier.

Hang in there and be good to yourself. (((HUGS))))

Mommafirst · Oct 18, 2009

Welcome to the place you never thought you'd need. There are dozens and dozens of us moms who have been in your place. WE know the feelings that words can't adequately begin to explain of hearing that your beloved child has cystic fibrosis.

There are quite a few on this site who have gotten CF diagnosis based on 1 mutation and symptoms. Most likely, there is a second gene that is not detectable, but since we aren't in that situation I won't assume to understand that.

I am a college professor, so I work full time, but more on a part time type schedule. It has worked out fine with my daughter and my other kids. My job is pretty flexible, so I have not run into problems for doctor visits or hospital stays -- a more rigid profession might require you to consider reducing your hours.

I know you are overwhelmed and emotional over all this. I sure know I was. I don't know if it helps for me to tell you, but I will, that it gets easier....it really does. My daughter is a beautiful, smart, funny, and special 3.5 year old. Her CF is only a very small part of her and her life is largely normal, minus some extra time and energy for treatments and occasional hospital stays. You CAN do this, and it will get easier.

Hang in there and be good to yourself. (((HUGS))))

Mommafirst · Oct 18, 2009

Welcome to the place you never thought you'd need. There are dozens and dozens of us moms who have been in your place. WE know the feelings that words can't adequately begin to explain of hearing that your beloved child has cystic fibrosis.
 
 There are quite a few on this site who have gotten CF diagnosis based on 1 mutation and symptoms. Most likely, there is a second gene that is not detectable, but since we aren't in that situation I won't assume to understand that.
 
 I am a college professor, so I work full time, but more on a part time type schedule. It has worked out fine with my daughter and my other kids. My job is pretty flexible, so I have not run into problems for doctor visits or hospital stays -- a more rigid profession might require you to consider reducing your hours.
 
 I know you are overwhelmed and emotional over all this. I sure know I was. I don't know if it helps for me to tell you, but I will, that it gets easier....it really does. My daughter is a beautiful, smart, funny, and special 3.5 year old. Her CF is only a very small part of her and her life is largely normal, minus some extra time and energy for treatments and occasional hospital stays. You CAN do this, and it will get easier.
 
 Hang in there and be good to yourself. (((HUGS))))

twinluv29 · Oct 18, 2009

Heather -- Thank you so much for your words of encouragement. I can't tell you how much they mean to me during this time. Since CF is so rare it feels like no one understands what we're going through. You do. Thank you.

I'm an attorney and was offered a partnership at my firm before my pregnancy. I'm contemplating reducing my work hours, but I'm not sure how feasible that will be since the nature of my work is quite rigid. With the diagnosis of my other son pending, it feels like we're being hit from all sides right now. In addition, I'm breastfeeding my little ones every 3 hours and the bleary eyed exhaustion doesn't help! Again, we're just taking it moment by moment.

I'm happy to know that Alyssa's CF is a small part of her and her life and that she's doing well. I will keep you and your family in my prayers. Take care.

twinluv29 · Oct 18, 2009

Heather -- Thank you so much for your words of encouragement. I can't tell you how much they mean to me during this time. Since CF is so rare it feels like no one understands what we're going through. You do. Thank you.

I'm an attorney and was offered a partnership at my firm before my pregnancy. I'm contemplating reducing my work hours, but I'm not sure how feasible that will be since the nature of my work is quite rigid. With the diagnosis of my other son pending, it feels like we're being hit from all sides right now. In addition, I'm breastfeeding my little ones every 3 hours and the bleary eyed exhaustion doesn't help! Again, we're just taking it moment by moment.

I'm happy to know that Alyssa's CF is a small part of her and her life and that she's doing well. I will keep you and your family in my prayers. Take care.

twinluv29 · Oct 18, 2009

Heather -- Thank you so much for your words of encouragement. I can't tell you how much they mean to me during this time. Since CF is so rare it feels like no one understands what we're going through. You do. Thank you.

I'm an attorney and was offered a partnership at my firm before my pregnancy. I'm contemplating reducing my work hours, but I'm not sure how feasible that will be since the nature of my work is quite rigid. With the diagnosis of my other son pending, it feels like we're being hit from all sides right now. In addition, I'm breastfeeding my little ones every 3 hours and the bleary eyed exhaustion doesn't help! Again, we're just taking it moment by moment.

I'm happy to know that Alyssa's CF is a small part of her and her life and that she's doing well. I will keep you and your family in my prayers. Take care.

twinluv29 · Oct 18, 2009

Heather -- Thank you so much for your words of encouragement. I can't tell you how much they mean to me during this time. Since CF is so rare it feels like no one understands what we're going through. You do. Thank you.

I'm an attorney and was offered a partnership at my firm before my pregnancy. I'm contemplating reducing my work hours, but I'm not sure how feasible that will be since the nature of my work is quite rigid. With the diagnosis of my other son pending, it feels like we're being hit from all sides right now. In addition, I'm breastfeeding my little ones every 3 hours and the bleary eyed exhaustion doesn't help! Again, we're just taking it moment by moment.

I'm happy to know that Alyssa's CF is a small part of her and her life and that she's doing well. I will keep you and your family in my prayers. Take care.

twinluv29 · Oct 18, 2009

Heather -- Thank you so much for your words of encouragement. I can't tell you how much they mean to me during this time. Since CF is so rare it feels like no one understands what we're going through. You do. Thank you.
 
 I'm an attorney and was offered a partnership at my firm before my pregnancy. I'm contemplating reducing my work hours, but I'm not sure how feasible that will be since the nature of my work is quite rigid. With the diagnosis of my other son pending, it feels like we're being hit from all sides right now. In addition, I'm breastfeeding my little ones every 3 hours and the bleary eyed exhaustion doesn't help! Again, we're just taking it moment by moment.
 
 I'm happy to know that Alyssa's CF is a small part of her and her life and that she's doing well. I will keep you and your family in my prayers. Take care.

Alicea825 · Oct 19, 2009

Well, I found out my husband and I were both CF carriers during my pregnancy. We waited until my son was born for testing and found out when he was 2 weeks old what we had dreaded since his 20 week ultrasound. I sobbed and sobbed when it was confirmed.

Now my son is 11 weeks old and it really isn't all that bad. We have regular CF clinic visits, he takes his enzymes like a champ and is gaining weight and looking great! We have yet to start the CPT, but when that starts it will just be another part of our lives, just like the enzymes and vitamins are.

Someone once put it that treatments are just little interruptions throughout an otherwise totally normal day in the life of a CFer and it's so, so true. We don't make his life all about CF - CF is just a small part of his life.

It does get better and easier to cope with every day. Stay strong and hang in there! Big hugs!!

Alicea825 · Oct 19, 2009

Well, I found out my husband and I were both CF carriers during my pregnancy. We waited until my son was born for testing and found out when he was 2 weeks old what we had dreaded since his 20 week ultrasound. I sobbed and sobbed when it was confirmed.

Now my son is 11 weeks old and it really isn't all that bad. We have regular CF clinic visits, he takes his enzymes like a champ and is gaining weight and looking great! We have yet to start the CPT, but when that starts it will just be another part of our lives, just like the enzymes and vitamins are.

Someone once put it that treatments are just little interruptions throughout an otherwise totally normal day in the life of a CFer and it's so, so true. We don't make his life all about CF - CF is just a small part of his life.

It does get better and easier to cope with every day. Stay strong and hang in there! Big hugs!!

Alicea825 · Oct 19, 2009

Well, I found out my husband and I were both CF carriers during my pregnancy. We waited until my son was born for testing and found out when he was 2 weeks old what we had dreaded since his 20 week ultrasound. I sobbed and sobbed when it was confirmed.

Now my son is 11 weeks old and it really isn't all that bad. We have regular CF clinic visits, he takes his enzymes like a champ and is gaining weight and looking great! We have yet to start the CPT, but when that starts it will just be another part of our lives, just like the enzymes and vitamins are.

Someone once put it that treatments are just little interruptions throughout an otherwise totally normal day in the life of a CFer and it's so, so true. We don't make his life all about CF - CF is just a small part of his life.

It does get better and easier to cope with every day. Stay strong and hang in there! Big hugs!!

Alicea825 · Oct 19, 2009

Well, I found out my husband and I were both CF carriers during my pregnancy. We waited until my son was born for testing and found out when he was 2 weeks old what we had dreaded since his 20 week ultrasound. I sobbed and sobbed when it was confirmed.

Now my son is 11 weeks old and it really isn't all that bad. We have regular CF clinic visits, he takes his enzymes like a champ and is gaining weight and looking great! We have yet to start the CPT, but when that starts it will just be another part of our lives, just like the enzymes and vitamins are.

Someone once put it that treatments are just little interruptions throughout an otherwise totally normal day in the life of a CFer and it's so, so true. We don't make his life all about CF - CF is just a small part of his life.

It does get better and easier to cope with every day. Stay strong and hang in there! Big hugs!!

Alicea825 · Oct 19, 2009

Well, I found out my husband and I were both CF carriers during my pregnancy. We waited until my son was born for testing and found out when he was 2 weeks old what we had dreaded since his 20 week ultrasound. I sobbed and sobbed when it was confirmed.
 
 Now my son is 11 weeks old and it really isn't all that bad. We have regular CF clinic visits, he takes his enzymes like a champ and is gaining weight and looking great! We have yet to start the CPT, but when that starts it will just be another part of our lives, just like the enzymes and vitamins are.
 
 Someone once put it that treatments are just little interruptions throughout an otherwise totally normal day in the life of a CFer and it's so, so true. We don't make his life all about CF - CF is just a small part of his life.
 
 It does get better and easier to cope with every day. Stay strong and hang in there! Big hugs!!

Baby diagnosed this week...trying to cope

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