Over 4 years later and still no symptoms.....

H

hmw

New member
annonymous- it is NOT silly at all to wonder! My son could well be a 'salty' carrier himself. His sweat test was only half of what his sister's was, but his 54 is much higher than some kids here who have clear-cut CF so it can clearly go either way. I'd much rather believe he's a carrier and it drives me insane that there are several ways we are looking at that would basically confirm a cf dx for him and no real way to 100% rule it out, short of discovering Emily's 2nd mutation.

If you are interested in hearing how his story plays out when he gets further testing I'll try to keep you posted. At this point Hopkins for a workup, including nasal potential difference testing... is supposed to be our next stop, provided we can get insurance to go for it. This was on the recommendation of Emily's clinic, which doesn't like the 'limbo' state anymore than we do, but doesn't know what else to do for him.
 
H

hmw

New member
annonymous- it is NOT silly at all to wonder! My son could well be a 'salty' carrier himself. His sweat test was only half of what his sister's was, but his 54 is much higher than some kids here who have clear-cut CF so it can clearly go either way. I'd much rather believe he's a carrier and it drives me insane that there are several ways we are looking at that would basically confirm a cf dx for him and no real way to 100% rule it out, short of discovering Emily's 2nd mutation.

If you are interested in hearing how his story plays out when he gets further testing I'll try to keep you posted. At this point Hopkins for a workup, including nasal potential difference testing... is supposed to be our next stop, provided we can get insurance to go for it. This was on the recommendation of Emily's clinic, which doesn't like the 'limbo' state anymore than we do, but doesn't know what else to do for him.
 
H

hmw

New member
annonymous- it is NOT silly at all to wonder! My son could well be a 'salty' carrier himself. His sweat test was only half of what his sister's was, but his 54 is much higher than some kids here who have clear-cut CF so it can clearly go either way. I'd much rather believe he's a carrier and it drives me insane that there are several ways we are looking at that would basically confirm a cf dx for him and no real way to 100% rule it out, short of discovering Emily's 2nd mutation.

If you are interested in hearing how his story plays out when he gets further testing I'll try to keep you posted. At this point Hopkins for a workup, including nasal potential difference testing... is supposed to be our next stop, provided we can get insurance to go for it. This was on the recommendation of Emily's clinic, which doesn't like the 'limbo' state anymore than we do, but doesn't know what else to do for him.
 
H

hmw

New member
annonymous- it is NOT silly at all to wonder! My son could well be a 'salty' carrier himself. His sweat test was only half of what his sister's was, but his 54 is much higher than some kids here who have clear-cut CF so it can clearly go either way. I'd much rather believe he's a carrier and it drives me insane that there are several ways we are looking at that would basically confirm a cf dx for him and no real way to 100% rule it out, short of discovering Emily's 2nd mutation.

If you are interested in hearing how his story plays out when he gets further testing I'll try to keep you posted. At this point Hopkins for a workup, including nasal potential difference testing... is supposed to be our next stop, provided we can get insurance to go for it. This was on the recommendation of Emily's clinic, which doesn't like the 'limbo' state anymore than we do, but doesn't know what else to do for him.
 
H

hmw

New member
annonymous- it is NOT silly at all to wonder! My son could well be a 'salty' carrier himself. His sweat test was only half of what his sister's was, but his 54 is much higher than some kids here who have clear-cut CF so it can clearly go either way. I'd much rather believe he's a carrier and it drives me insane that there are several ways we are looking at that would basically confirm a cf dx for him and no real way to 100% rule it out, short of discovering Emily's 2nd mutation.
<br />
<br />If you are interested in hearing how his story plays out when he gets further testing I'll try to keep you posted. At this point Hopkins for a workup, including nasal potential difference testing... is supposed to be our next stop, provided we can get insurance to go for it. This was on the recommendation of Emily's clinic, which doesn't like the 'limbo' state anymore than we do, but doesn't know what else to do for him.
 
A

annonymous

New member
HMW-I am very interested in hearing how his story plays out. We have talked about NPD with our CF doc too. I think there are only a couple of places that do it, but he was very interested in arranging it if we are willing to make the trip. Do you have any idea what the cost is? I have talked with a girl on this board who has CF with 2 known mutations and her youngest sibling had a sweat test of 70, but showed up on genetic testing as a carrier only. They were able to rule out CF with NPD. I think she may have a minor case of asthma, but she is otherwise healthy.
 
A

annonymous

New member
HMW-I am very interested in hearing how his story plays out. We have talked about NPD with our CF doc too. I think there are only a couple of places that do it, but he was very interested in arranging it if we are willing to make the trip. Do you have any idea what the cost is? I have talked with a girl on this board who has CF with 2 known mutations and her youngest sibling had a sweat test of 70, but showed up on genetic testing as a carrier only. They were able to rule out CF with NPD. I think she may have a minor case of asthma, but she is otherwise healthy.
 
A

annonymous

New member
HMW-I am very interested in hearing how his story plays out. We have talked about NPD with our CF doc too. I think there are only a couple of places that do it, but he was very interested in arranging it if we are willing to make the trip. Do you have any idea what the cost is? I have talked with a girl on this board who has CF with 2 known mutations and her youngest sibling had a sweat test of 70, but showed up on genetic testing as a carrier only. They were able to rule out CF with NPD. I think she may have a minor case of asthma, but she is otherwise healthy.
 
A

annonymous

New member
HMW-I am very interested in hearing how his story plays out. We have talked about NPD with our CF doc too. I think there are only a couple of places that do it, but he was very interested in arranging it if we are willing to make the trip. Do you have any idea what the cost is? I have talked with a girl on this board who has CF with 2 known mutations and her youngest sibling had a sweat test of 70, but showed up on genetic testing as a carrier only. They were able to rule out CF with NPD. I think she may have a minor case of asthma, but she is otherwise healthy.
 
A

annonymous

New member
HMW-I am very interested in hearing how his story plays out. We have talked about NPD with our CF doc too. I think there are only a couple of places that do it, but he was very interested in arranging it if we are willing to make the trip. Do you have any idea what the cost is? I have talked with a girl on this board who has CF with 2 known mutations and her youngest sibling had a sweat test of 70, but showed up on genetic testing as a carrier only. They were able to rule out CF with NPD. I think she may have a minor case of asthma, but she is otherwise healthy.
 
H

hmw

New member
I have no idea at this point what cost is. I would like to know too. When the director of our clinic spoke to the director at Hopkins (the closest center to us that will do it) they said they'd do it- but also need to see him in their center for a general work-up. So I need to be sure I have insurance coverage for the whole visit, not just the one test. It makes sense; the test results won't be as valuable without a 'context' to put them in and every doctor wants to get their own information about a patient, not just read other people's paperwork, but it will be more for insurance to cover. It frustrates me that Children's Hospital of Boston (part of Harvard's teaching complex) also has this but they WON'T do it except for research. Our center director had spoken to them first. They are so much closer to us and we've been there quite a few times with our insurance with another of our children... I'd be more confident in being covered for this if we could go there.

Shawn is not acutely ill by any stretch but things 'nag' at me. We NEED to be able to answer this.
 
H

hmw

New member
I have no idea at this point what cost is. I would like to know too. When the director of our clinic spoke to the director at Hopkins (the closest center to us that will do it) they said they'd do it- but also need to see him in their center for a general work-up. So I need to be sure I have insurance coverage for the whole visit, not just the one test. It makes sense; the test results won't be as valuable without a 'context' to put them in and every doctor wants to get their own information about a patient, not just read other people's paperwork, but it will be more for insurance to cover. It frustrates me that Children's Hospital of Boston (part of Harvard's teaching complex) also has this but they WON'T do it except for research. Our center director had spoken to them first. They are so much closer to us and we've been there quite a few times with our insurance with another of our children... I'd be more confident in being covered for this if we could go there.

Shawn is not acutely ill by any stretch but things 'nag' at me. We NEED to be able to answer this.
 
H

hmw

New member
I have no idea at this point what cost is. I would like to know too. When the director of our clinic spoke to the director at Hopkins (the closest center to us that will do it) they said they'd do it- but also need to see him in their center for a general work-up. So I need to be sure I have insurance coverage for the whole visit, not just the one test. It makes sense; the test results won't be as valuable without a 'context' to put them in and every doctor wants to get their own information about a patient, not just read other people's paperwork, but it will be more for insurance to cover. It frustrates me that Children's Hospital of Boston (part of Harvard's teaching complex) also has this but they WON'T do it except for research. Our center director had spoken to them first. They are so much closer to us and we've been there quite a few times with our insurance with another of our children... I'd be more confident in being covered for this if we could go there.

Shawn is not acutely ill by any stretch but things 'nag' at me. We NEED to be able to answer this.
 
H

hmw

New member
I have no idea at this point what cost is. I would like to know too. When the director of our clinic spoke to the director at Hopkins (the closest center to us that will do it) they said they'd do it- but also need to see him in their center for a general work-up. So I need to be sure I have insurance coverage for the whole visit, not just the one test. It makes sense; the test results won't be as valuable without a 'context' to put them in and every doctor wants to get their own information about a patient, not just read other people's paperwork, but it will be more for insurance to cover. It frustrates me that Children's Hospital of Boston (part of Harvard's teaching complex) also has this but they WON'T do it except for research. Our center director had spoken to them first. They are so much closer to us and we've been there quite a few times with our insurance with another of our children... I'd be more confident in being covered for this if we could go there.

Shawn is not acutely ill by any stretch but things 'nag' at me. We NEED to be able to answer this.
 
H

hmw

New member
I have no idea at this point what cost is. I would like to know too. When the director of our clinic spoke to the director at Hopkins (the closest center to us that will do it) they said they'd do it- but also need to see him in their center for a general work-up. So I need to be sure I have insurance coverage for the whole visit, not just the one test. It makes sense; the test results won't be as valuable without a 'context' to put them in and every doctor wants to get their own information about a patient, not just read other people's paperwork, but it will be more for insurance to cover. It frustrates me that Children's Hospital of Boston (part of Harvard's teaching complex) also has this but they WON'T do it except for research. Our center director had spoken to them first. They are so much closer to us and we've been there quite a few times with our insurance with another of our children... I'd be more confident in being covered for this if we could go there.
<br />
<br />Shawn is not acutely ill by any stretch but things 'nag' at me. We NEED to be able to answer this.
 
M

MyBabyCeline

Member
Hi there...

I know this is kind of an old thread but I was wondering how your son is doing now? I hope and pray that he is still doing as well and that no symptoms have emerged.

My daughter is kind of in the same place although she is still 14 months old, but like your son she is doing really well and she's not on any meds or anything. We only do CPT and a normal saline neb once a day as a precautionary measure.

She has 2 mutations but I believe (from all the research and reading that I've done) that one of her mutaions (F693L) is a polymorphism and is non disease causing. Although I can't find anybody with enough knowledge or reliability to confirm that.

I was searching for a topic about people with CF that have no symptoms and I was glad when I found your post. I hope you are still watching this thread and that you would tell me how your son is doing these days. It is really encouraging to hear such cases where the children are doing really well.

God bless you and your son..
 
M

MyBabyCeline

Member
Hi there...

I know this is kind of an old thread but I was wondering how your son is doing now? I hope and pray that he is still doing as well and that no symptoms have emerged.

My daughter is kind of in the same place although she is still 14 months old, but like your son she is doing really well and she's not on any meds or anything. We only do CPT and a normal saline neb once a day as a precautionary measure.

She has 2 mutations but I believe (from all the research and reading that I've done) that one of her mutaions (F693L) is a polymorphism and is non disease causing. Although I can't find anybody with enough knowledge or reliability to confirm that.

I was searching for a topic about people with CF that have no symptoms and I was glad when I found your post. I hope you are still watching this thread and that you would tell me how your son is doing these days. It is really encouraging to hear such cases where the children are doing really well.

God bless you and your son..
 
S

SarahProcter

Guest
Hi there. I'm not the original poster, but I seem to have posted in this thread two years ago, so I'll give you my update <img src="i/expressions/face-icon-small-smile.gif" border="0"> My daughter is still pancreatic sufficient and still presents no symptoms, at age 3y4mo. She has a definite genetic diagnosis of CF, though her second mutation is a rare one. We treat her as if she has CF, because she does, complete lack of symptoms notwithstanding. So far, so good. She's tall and sturdy and healthy and super smart. We understand that she may start having symptoms any day, and so we are proactive in her health care, and just recently started doing hypertonic saline via nebulizer. I am glad that your daughter is doing so well <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

SarahProcter

Guest
Hi there. I'm not the original poster, but I seem to have posted in this thread two years ago, so I'll give you my update <img src="i/expressions/face-icon-small-smile.gif" border="0"> My daughter is still pancreatic sufficient and still presents no symptoms, at age 3y4mo. She has a definite genetic diagnosis of CF, though her second mutation is a rare one. We treat her as if she has CF, because she does, complete lack of symptoms notwithstanding. So far, so good. She's tall and sturdy and healthy and super smart. We understand that she may start having symptoms any day, and so we are proactive in her health care, and just recently started doing hypertonic saline via nebulizer. I am glad that your daughter is doing so well <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
M

MyBabyCeline

Member
Hey SarahProcter,

I'm so glad to hear your daughter is doing so well too. Hearing about such cases always gives me so much hope and pushes me even more towards keeping on with our proactive plan. I won't lie to you, there are times that I feel so desperate and all I want to do is throw the percussors and nebulizer and just go on with life as if nothing's there. But I'm perfectly aware that CF is just like a monster that can suddenly come and show its ugly face, and once that happens there's no turning back and all that's going to come in handy is the proactive measurments that we committed to.
 
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