Baby diagnosed this week...trying to cope

carrierae21 · Oct 19, 2009

I can honestly tell you that I know exactly how you feel. My daughter's CF was missed at birth and we found out when she was 5 months old. She is pancreatic insufficent and has just started culturing pseudamonas. She didn't have really any respiratory involvement until the past few months with the pseudamonas.
I work a few days a week at a hospital and my husband is a firefighter and works 24 hours and then off for 48 (every third day) so one of us is always home with our daughter. It works really nice for us so we both get to be out of the house and socialize (and work, I guess) and also both be home with her. It's also nice to be able to be off through the week for whatever may come up. But, our situation is not very common.
I have never heard of someone having CF and only have 1 gene. It was my understanding that you have to have the 2 genes. Have you seen a geneticist? Maybe you could ask to see one. But, with the pseudamonas and the pancreatic involvement it's obvious. Where do you live? Are you near a CF center? I'm surprised about the sweat test. Does he taste salty when you kiss him? Is he underweight? Pale?
Okay, I won't bombard you with anymore questions (but I coud think ofhundreds more, lol). Just know that there are people here that know what you are going through and can be a support, resource and sounding board.

carrierae21 · Oct 19, 2009

I can honestly tell you that I know exactly how you feel. My daughter's CF was missed at birth and we found out when she was 5 months old. She is pancreatic insufficent and has just started culturing pseudamonas. She didn't have really any respiratory involvement until the past few months with the pseudamonas.
I work a few days a week at a hospital and my husband is a firefighter and works 24 hours and then off for 48 (every third day) so one of us is always home with our daughter. It works really nice for us so we both get to be out of the house and socialize (and work, I guess) and also both be home with her. It's also nice to be able to be off through the week for whatever may come up. But, our situation is not very common.
I have never heard of someone having CF and only have 1 gene. It was my understanding that you have to have the 2 genes. Have you seen a geneticist? Maybe you could ask to see one. But, with the pseudamonas and the pancreatic involvement it's obvious. Where do you live? Are you near a CF center? I'm surprised about the sweat test. Does he taste salty when you kiss him? Is he underweight? Pale?
Okay, I won't bombard you with anymore questions (but I coud think ofhundreds more, lol). Just know that there are people here that know what you are going through and can be a support, resource and sounding board.

carrierae21 · Oct 19, 2009

I can honestly tell you that I know exactly how you feel. My daughter's CF was missed at birth and we found out when she was 5 months old. She is pancreatic insufficent and has just started culturing pseudamonas. She didn't have really any respiratory involvement until the past few months with the pseudamonas.
I work a few days a week at a hospital and my husband is a firefighter and works 24 hours and then off for 48 (every third day) so one of us is always home with our daughter. It works really nice for us so we both get to be out of the house and socialize (and work, I guess) and also both be home with her. It's also nice to be able to be off through the week for whatever may come up. But, our situation is not very common.
I have never heard of someone having CF and only have 1 gene. It was my understanding that you have to have the 2 genes. Have you seen a geneticist? Maybe you could ask to see one. But, with the pseudamonas and the pancreatic involvement it's obvious. Where do you live? Are you near a CF center? I'm surprised about the sweat test. Does he taste salty when you kiss him? Is he underweight? Pale?
Okay, I won't bombard you with anymore questions (but I coud think ofhundreds more, lol). Just know that there are people here that know what you are going through and can be a support, resource and sounding board.

carrierae21 · Oct 19, 2009

I can honestly tell you that I know exactly how you feel. My daughter's CF was missed at birth and we found out when she was 5 months old. She is pancreatic insufficent and has just started culturing pseudamonas. She didn't have really any respiratory involvement until the past few months with the pseudamonas.
I work a few days a week at a hospital and my husband is a firefighter and works 24 hours and then off for 48 (every third day) so one of us is always home with our daughter. It works really nice for us so we both get to be out of the house and socialize (and work, I guess) and also both be home with her. It's also nice to be able to be off through the week for whatever may come up. But, our situation is not very common.
I have never heard of someone having CF and only have 1 gene. It was my understanding that you have to have the 2 genes. Have you seen a geneticist? Maybe you could ask to see one. But, with the pseudamonas and the pancreatic involvement it's obvious. Where do you live? Are you near a CF center? I'm surprised about the sweat test. Does he taste salty when you kiss him? Is he underweight? Pale?
Okay, I won't bombard you with anymore questions (but I coud think ofhundreds more, lol). Just know that there are people here that know what you are going through and can be a support, resource and sounding board.

carrierae21 · Oct 19, 2009

I can honestly tell you that I know exactly how you feel. My daughter's CF was missed at birth and we found out when she was 5 months old. She is pancreatic insufficent and has just started culturing pseudamonas. She didn't have really any respiratory involvement until the past few months with the pseudamonas.
 I work a few days a week at a hospital and my husband is a firefighter and works 24 hours and then off for 48 (every third day) so one of us is always home with our daughter. It works really nice for us so we both get to be out of the house and socialize (and work, I guess) and also both be home with her. It's also nice to be able to be off through the week for whatever may come up. But, our situation is not very common.
 I have never heard of someone having CF and only have 1 gene. It was my understanding that you have to have the 2 genes. Have you seen a geneticist? Maybe you could ask to see one. But, with the pseudamonas and the pancreatic involvement it's obvious. Where do you live? Are you near a CF center? I'm surprised about the sweat test. Does he taste salty when you kiss him? Is he underweight? Pale?
 Okay, I won't bombard you with anymore questions (but I coud think ofhundreds more, lol). Just know that there are people here that know what you are going through and can be a support, resource and sounding board.

SadiesMom · Oct 19, 2009

I would say talk to your doctors. All I can tell you is that it does get easier. Our daughter was diagnosed at 4 weeks (she's almost eight months now) and for awhile there I thought we were going to have to take up permanent residency outside Johns Hopkins. But it did get better, it's just that they change so much during the first year; what works one week, might not be working so great the next. Right now we are seen about once a month and each visit is about an hour. I do feel like I could go back to work now, full or part time. Just make sure your daycare or nanny is equipped to handle a special needs child. Like everyone said before me, it really isn't her whole life...it's just part of her life. The enzymes and chest pt just become part of your day.

Anyways, good luck. I remember all too well how crazy those first few weeks (or months) were when we found out. It does get better and this is a great support system of people who really know what you are going through.

_____________________________________________________________
Sherry, mom to Sadie born 02/27/2009 DF508/1717~1G>A

SadiesMom · Oct 19, 2009

I would say talk to your doctors. All I can tell you is that it does get easier. Our daughter was diagnosed at 4 weeks (she's almost eight months now) and for awhile there I thought we were going to have to take up permanent residency outside Johns Hopkins. But it did get better, it's just that they change so much during the first year; what works one week, might not be working so great the next. Right now we are seen about once a month and each visit is about an hour. I do feel like I could go back to work now, full or part time. Just make sure your daycare or nanny is equipped to handle a special needs child. Like everyone said before me, it really isn't her whole life...it's just part of her life. The enzymes and chest pt just become part of your day.

Anyways, good luck. I remember all too well how crazy those first few weeks (or months) were when we found out. It does get better and this is a great support system of people who really know what you are going through.

_____________________________________________________________
Sherry, mom to Sadie born 02/27/2009 DF508/1717~1G>A

SadiesMom · Oct 19, 2009

I would say talk to your doctors. All I can tell you is that it does get easier. Our daughter was diagnosed at 4 weeks (she's almost eight months now) and for awhile there I thought we were going to have to take up permanent residency outside Johns Hopkins. But it did get better, it's just that they change so much during the first year; what works one week, might not be working so great the next. Right now we are seen about once a month and each visit is about an hour. I do feel like I could go back to work now, full or part time. Just make sure your daycare or nanny is equipped to handle a special needs child. Like everyone said before me, it really isn't her whole life...it's just part of her life. The enzymes and chest pt just become part of your day.

Anyways, good luck. I remember all too well how crazy those first few weeks (or months) were when we found out. It does get better and this is a great support system of people who really know what you are going through.

_____________________________________________________________
Sherry, mom to Sadie born 02/27/2009 DF508/1717~1G>A

SadiesMom · Oct 19, 2009

I would say talk to your doctors. All I can tell you is that it does get easier. Our daughter was diagnosed at 4 weeks (she's almost eight months now) and for awhile there I thought we were going to have to take up permanent residency outside Johns Hopkins. But it did get better, it's just that they change so much during the first year; what works one week, might not be working so great the next. Right now we are seen about once a month and each visit is about an hour. I do feel like I could go back to work now, full or part time. Just make sure your daycare or nanny is equipped to handle a special needs child. Like everyone said before me, it really isn't her whole life...it's just part of her life. The enzymes and chest pt just become part of your day.

Anyways, good luck. I remember all too well how crazy those first few weeks (or months) were when we found out. It does get better and this is a great support system of people who really know what you are going through.

_____________________________________________________________
Sherry, mom to Sadie born 02/27/2009 DF508/1717~1G>A

SadiesMom · Oct 19, 2009

I would say talk to your doctors. All I can tell you is that it does get easier. Our daughter was diagnosed at 4 weeks (she's almost eight months now) and for awhile there I thought we were going to have to take up permanent residency outside Johns Hopkins. But it did get better, it's just that they change so much during the first year; what works one week, might not be working so great the next. Right now we are seen about once a month and each visit is about an hour. I do feel like I could go back to work now, full or part time. Just make sure your daycare or nanny is equipped to handle a special needs child. Like everyone said before me, it really isn't her whole life...it's just part of her life. The enzymes and chest pt just become part of your day.
 
 Anyways, good luck. I remember all too well how crazy those first few weeks (or months) were when we found out. It does get better and this is a great support system of people who really know what you are going through.
 
 _____________________________________________________________
 Sherry, mom to Sadie born 02/27/2009 DF508/1717~1G>A

RiverRat · Oct 19, 2009

Hello, I am so sorry to hear about your twins. My husband and I also found out we were carriers when I was pregnant. My son was diagnosed at 2 weeks old.

I am a professional engineer and had worked 40 hours plus a week. I took six months off. My husband is an attoney, he was given seven weeks off to adjust to our new routine. I had a horrible time trying to decide what to do about child care. I ended up going back to work at a reduced schedule. I started working Monday-thursday for a half day which was horrible bacause I was not super productive at work and I did not have as much time with my son. I now work Monday, Wedneday and Friday full days. I am able to take him to appointments and take care of him. My work has been VERY accomodating when it comes to having to leave early to give him therapy when he is sick. I explained the situation to my managers and given a few informative talks about what CF is and how it is affecting my family. I would talk to your managers and see if they can be flexible.

RiverRat · Oct 19, 2009

Hello, I am so sorry to hear about your twins. My husband and I also found out we were carriers when I was pregnant. My son was diagnosed at 2 weeks old.

I am a professional engineer and had worked 40 hours plus a week. I took six months off. My husband is an attoney, he was given seven weeks off to adjust to our new routine. I had a horrible time trying to decide what to do about child care. I ended up going back to work at a reduced schedule. I started working Monday-thursday for a half day which was horrible bacause I was not super productive at work and I did not have as much time with my son. I now work Monday, Wedneday and Friday full days. I am able to take him to appointments and take care of him. My work has been VERY accomodating when it comes to having to leave early to give him therapy when he is sick. I explained the situation to my managers and given a few informative talks about what CF is and how it is affecting my family. I would talk to your managers and see if they can be flexible.

RiverRat · Oct 19, 2009

Hello, I am so sorry to hear about your twins. My husband and I also found out we were carriers when I was pregnant. My son was diagnosed at 2 weeks old.

I am a professional engineer and had worked 40 hours plus a week. I took six months off. My husband is an attoney, he was given seven weeks off to adjust to our new routine. I had a horrible time trying to decide what to do about child care. I ended up going back to work at a reduced schedule. I started working Monday-thursday for a half day which was horrible bacause I was not super productive at work and I did not have as much time with my son. I now work Monday, Wedneday and Friday full days. I am able to take him to appointments and take care of him. My work has been VERY accomodating when it comes to having to leave early to give him therapy when he is sick. I explained the situation to my managers and given a few informative talks about what CF is and how it is affecting my family. I would talk to your managers and see if they can be flexible.

RiverRat · Oct 19, 2009

Hello, I am so sorry to hear about your twins. My husband and I also found out we were carriers when I was pregnant. My son was diagnosed at 2 weeks old.

I am a professional engineer and had worked 40 hours plus a week. I took six months off. My husband is an attoney, he was given seven weeks off to adjust to our new routine. I had a horrible time trying to decide what to do about child care. I ended up going back to work at a reduced schedule. I started working Monday-thursday for a half day which was horrible bacause I was not super productive at work and I did not have as much time with my son. I now work Monday, Wedneday and Friday full days. I am able to take him to appointments and take care of him. My work has been VERY accomodating when it comes to having to leave early to give him therapy when he is sick. I explained the situation to my managers and given a few informative talks about what CF is and how it is affecting my family. I would talk to your managers and see if they can be flexible.

RiverRat · Oct 19, 2009

Hello, I am so sorry to hear about your twins. My husband and I also found out we were carriers when I was pregnant. My son was diagnosed at 2 weeks old.
 
 I am a professional engineer and had worked 40 hours plus a week. I took six months off. My husband is an attoney, he was given seven weeks off to adjust to our new routine. I had a horrible time trying to decide what to do about child care. I ended up going back to work at a reduced schedule. I started working Monday-thursday for a half day which was horrible bacause I was not super productive at work and I did not have as much time with my son. I now work Monday, Wedneday and Friday full days. I am able to take him to appointments and take care of him. My work has been VERY accomodating when it comes to having to leave early to give him therapy when he is sick. I explained the situation to my managers and given a few informative talks about what CF is and how it is affecting my family. I would talk to your managers and see if they can be flexible.

serendipity730 · Oct 19, 2009

Hello,

I am very sorry for your news. I can't speak from the mom perspective, but I am a 27 yr old w/CF and a genetic counselor. Did your son have the Ambry gene sequencing, where the lab looks at the entire (almost) gene? If not, he definitely shoud have that done. I say they look at almost the entire gene, because they do not look at all of the "introns", which are the parts of the gene that do not make protein, but may have an effect on the part of the gene that does make protein. So, it is possible that your son has a mutation in that part of the gene.

When you say the sweat test failed, do you mean it was negative or inconclusive? I certainly agree with your son's dr. that it is best to go ahead and treat him as if he has CF.

If you have any other genetics-type questions, I would be happy to answer them. You can also private message me, if you want.

serendipity730 · Oct 19, 2009

Hello,

I am very sorry for your news. I can't speak from the mom perspective, but I am a 27 yr old w/CF and a genetic counselor. Did your son have the Ambry gene sequencing, where the lab looks at the entire (almost) gene? If not, he definitely shoud have that done. I say they look at almost the entire gene, because they do not look at all of the "introns", which are the parts of the gene that do not make protein, but may have an effect on the part of the gene that does make protein. So, it is possible that your son has a mutation in that part of the gene.

When you say the sweat test failed, do you mean it was negative or inconclusive? I certainly agree with your son's dr. that it is best to go ahead and treat him as if he has CF.

If you have any other genetics-type questions, I would be happy to answer them. You can also private message me, if you want.

serendipity730 · Oct 19, 2009

Hello,

I am very sorry for your news. I can't speak from the mom perspective, but I am a 27 yr old w/CF and a genetic counselor. Did your son have the Ambry gene sequencing, where the lab looks at the entire (almost) gene? If not, he definitely shoud have that done. I say they look at almost the entire gene, because they do not look at all of the "introns", which are the parts of the gene that do not make protein, but may have an effect on the part of the gene that does make protein. So, it is possible that your son has a mutation in that part of the gene.

When you say the sweat test failed, do you mean it was negative or inconclusive? I certainly agree with your son's dr. that it is best to go ahead and treat him as if he has CF.

If you have any other genetics-type questions, I would be happy to answer them. You can also private message me, if you want.

serendipity730 · Oct 19, 2009

Hello,

I am very sorry for your news. I can't speak from the mom perspective, but I am a 27 yr old w/CF and a genetic counselor. Did your son have the Ambry gene sequencing, where the lab looks at the entire (almost) gene? If not, he definitely shoud have that done. I say they look at almost the entire gene, because they do not look at all of the "introns", which are the parts of the gene that do not make protein, but may have an effect on the part of the gene that does make protein. So, it is possible that your son has a mutation in that part of the gene.

When you say the sweat test failed, do you mean it was negative or inconclusive? I certainly agree with your son's dr. that it is best to go ahead and treat him as if he has CF.

If you have any other genetics-type questions, I would be happy to answer them. You can also private message me, if you want.

serendipity730 · Oct 19, 2009

Hello,
 
 I am very sorry for your news. I can't speak from the mom perspective, but I am a 27 yr old w/CF and a genetic counselor. Did your son have the Ambry gene sequencing, where the lab looks at the entire (almost) gene? If not, he definitely shoud have that done. I say they look at almost the entire gene, because they do not look at all of the "introns", which are the parts of the gene that do not make protein, but may have an effect on the part of the gene that does make protein. So, it is possible that your son has a mutation in that part of the gene.
 
 When you say the sweat test failed, do you mean it was negative or inconclusive? I certainly agree with your son's dr. that it is best to go ahead and treat him as if he has CF.
 
 If you have any other genetics-type questions, I would be happy to answer them. You can also private message me, if you want.

Baby diagnosed this week...trying to cope

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