Need some insight....

B

BabyBeauty

New member
I am going to try and map this out as best I can.

My daughter was diagnosed with CF a month ago. We know she has G542X gene mutation which was discovered on a small panel. Her full genetics testing is being done right now to find the other gene mutation.

I went to go get tested to see if I had G542X, so I did the small panel that tests for it. I came back with DF508, which is the most common gene mutation. My daughter does not have DF508 - that gene was tested on her first small panel done at birth...so I am thinking I have CF. Which to be honest with you would make sense. I have always had stomach issues and NO doctor could ever correlate the issues. Does anyone have any other suggestions?

I am waiting for the CF Center to give me some direction of what to do. The nurse at the CF Center is at a loss.
 
B

BabyBeauty

New member
I am going to try and map this out as best I can.

My daughter was diagnosed with CF a month ago. We know she has G542X gene mutation which was discovered on a small panel. Her full genetics testing is being done right now to find the other gene mutation.

I went to go get tested to see if I had G542X, so I did the small panel that tests for it. I came back with DF508, which is the most common gene mutation. My daughter does not have DF508 - that gene was tested on her first small panel done at birth...so I am thinking I have CF. Which to be honest with you would make sense. I have always had stomach issues and NO doctor could ever correlate the issues. Does anyone have any other suggestions?

I am waiting for the CF Center to give me some direction of what to do. The nurse at the CF Center is at a loss.
 
B

BabyBeauty

New member
I am going to try and map this out as best I can.

My daughter was diagnosed with CF a month ago. We know she has G542X gene mutation which was discovered on a small panel. Her full genetics testing is being done right now to find the other gene mutation.

I went to go get tested to see if I had G542X, so I did the small panel that tests for it. I came back with DF508, which is the most common gene mutation. My daughter does not have DF508 - that gene was tested on her first small panel done at birth...so I am thinking I have CF. Which to be honest with you would make sense. I have always had stomach issues and NO doctor could ever correlate the issues. Does anyone have any other suggestions?

I am waiting for the CF Center to give me some direction of what to do. The nurse at the CF Center is at a loss.
 
B

BabyBeauty

New member
I am going to try and map this out as best I can.

My daughter was diagnosed with CF a month ago. We know she has G542X gene mutation which was discovered on a small panel. Her full genetics testing is being done right now to find the other gene mutation.

I went to go get tested to see if I had G542X, so I did the small panel that tests for it. I came back with DF508, which is the most common gene mutation. My daughter does not have DF508 - that gene was tested on her first small panel done at birth...so I am thinking I have CF. Which to be honest with you would make sense. I have always had stomach issues and NO doctor could ever correlate the issues. Does anyone have any other suggestions?

I am waiting for the CF Center to give me some direction of what to do. The nurse at the CF Center is at a loss.
 
B

BabyBeauty

New member
I am going to try and map this out as best I can.
<br />
<br />My daughter was diagnosed with CF a month ago. We know she has G542X gene mutation which was discovered on a small panel. Her full genetics testing is being done right now to find the other gene mutation.
<br />
<br />I went to go get tested to see if I had G542X, so I did the small panel that tests for it. I came back with DF508, which is the most common gene mutation. My daughter does not have DF508 - that gene was tested on her first small panel done at birth...so I am thinking I have CF. Which to be honest with you would make sense. I have always had stomach issues and NO doctor could ever correlate the issues. Does anyone have any other suggestions?
<br />
<br />I am waiting for the CF Center to give me some direction of what to do. The nurse at the CF Center is at a loss.
 
M

Marjolein

New member
I'm sorry to hear you might have CF too.
This would make sense. When you have DF508 and your daughter does not but does have CF, you would think you must have another gene that stands for CF too and that you gave to your daughter. And her dad must have given her the G542X.
I would ask her CF doctor what to do, when you next see him/her. It's strange that the CF nurse is at ta loss. I would think, when you look at it, that they should test you for a full panel. Or wait for your daughter's results and have you tested for her second gene.

Good luck with everything!
 
M

Marjolein

New member
I'm sorry to hear you might have CF too.
This would make sense. When you have DF508 and your daughter does not but does have CF, you would think you must have another gene that stands for CF too and that you gave to your daughter. And her dad must have given her the G542X.
I would ask her CF doctor what to do, when you next see him/her. It's strange that the CF nurse is at ta loss. I would think, when you look at it, that they should test you for a full panel. Or wait for your daughter's results and have you tested for her second gene.

Good luck with everything!
 
M

Marjolein

New member
I'm sorry to hear you might have CF too.
This would make sense. When you have DF508 and your daughter does not but does have CF, you would think you must have another gene that stands for CF too and that you gave to your daughter. And her dad must have given her the G542X.
I would ask her CF doctor what to do, when you next see him/her. It's strange that the CF nurse is at ta loss. I would think, when you look at it, that they should test you for a full panel. Or wait for your daughter's results and have you tested for her second gene.

Good luck with everything!
 
M

Marjolein

New member
I'm sorry to hear you might have CF too.
This would make sense. When you have DF508 and your daughter does not but does have CF, you would think you must have another gene that stands for CF too and that you gave to your daughter. And her dad must have given her the G542X.
I would ask her CF doctor what to do, when you next see him/her. It's strange that the CF nurse is at ta loss. I would think, when you look at it, that they should test you for a full panel. Or wait for your daughter's results and have you tested for her second gene.

Good luck with everything!
 
M

Marjolein

New member
I'm sorry to hear you might have CF too.
<br />This would make sense. When you have DF508 and your daughter does not but does have CF, you would think you must have another gene that stands for CF too and that you gave to your daughter. And her dad must have given her the G542X.
<br />I would ask her CF doctor what to do, when you next see him/her. It's strange that the CF nurse is at ta loss. I would think, when you look at it, that they should test you for a full panel. Or wait for your daughter's results and have you tested for her second gene.
<br />
<br />Good luck with everything!
 
B

BabyBeauty

New member
I do want to say for whatever reason the thought of my having CF is not bad at all. It almost is a relief if I do have it. It gives me hope that my daughter will have the same (for the most part) healthy life that I have. Again if I do have CF I have never had any lung issues just all GI problems. And also it gives my pancreatic, stomach, and intestinal issues a correlation. So CF to me doesn't scare me at all. Maybe that is weird. I don't know.
 
B

BabyBeauty

New member
I do want to say for whatever reason the thought of my having CF is not bad at all. It almost is a relief if I do have it. It gives me hope that my daughter will have the same (for the most part) healthy life that I have. Again if I do have CF I have never had any lung issues just all GI problems. And also it gives my pancreatic, stomach, and intestinal issues a correlation. So CF to me doesn't scare me at all. Maybe that is weird. I don't know.
 
B

BabyBeauty

New member
I do want to say for whatever reason the thought of my having CF is not bad at all. It almost is a relief if I do have it. It gives me hope that my daughter will have the same (for the most part) healthy life that I have. Again if I do have CF I have never had any lung issues just all GI problems. And also it gives my pancreatic, stomach, and intestinal issues a correlation. So CF to me doesn't scare me at all. Maybe that is weird. I don't know.
 
B

BabyBeauty

New member
I do want to say for whatever reason the thought of my having CF is not bad at all. It almost is a relief if I do have it. It gives me hope that my daughter will have the same (for the most part) healthy life that I have. Again if I do have CF I have never had any lung issues just all GI problems. And also it gives my pancreatic, stomach, and intestinal issues a correlation. So CF to me doesn't scare me at all. Maybe that is weird. I don't know.
 
B

BabyBeauty

New member
I do want to say for whatever reason the thought of my having CF is not bad at all. It almost is a relief if I do have it. It gives me hope that my daughter will have the same (for the most part) healthy life that I have. Again if I do have CF I have never had any lung issues just all GI problems. And also it gives my pancreatic, stomach, and intestinal issues a correlation. So CF to me doesn't scare me at all. Maybe that is weird. I don't know.
 
M

Marjolein

New member
I understand. I think I might feel the same. And it always feel better to know.
I'm glad to hear you have had a relatively healthy life so far and do wish your daughter that too <img src="i/expressions/face-icon-small-smile.gif" border="0">
Who knows some meds can help you live and even better life.

Keep us updated
 
M

Marjolein

New member
I understand. I think I might feel the same. And it always feel better to know.
I'm glad to hear you have had a relatively healthy life so far and do wish your daughter that too <img src="i/expressions/face-icon-small-smile.gif" border="0">
Who knows some meds can help you live and even better life.

Keep us updated
 
M

Marjolein

New member
I understand. I think I might feel the same. And it always feel better to know.
I'm glad to hear you have had a relatively healthy life so far and do wish your daughter that too <img src="i/expressions/face-icon-small-smile.gif" border="0">
Who knows some meds can help you live and even better life.

Keep us updated
 
M

Marjolein

New member
I understand. I think I might feel the same. And it always feel better to know.
I'm glad to hear you have had a relatively healthy life so far and do wish your daughter that too <img src="i/expressions/face-icon-small-smile.gif" border="0">
Who knows some meds can help you live and even better life.

Keep us updated
 
M

Marjolein

New member
I understand. I think I might feel the same. And it always feel better to know.
<br />I'm glad to hear you have had a relatively healthy life so far and do wish your daughter that too <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />Who knows some meds can help you live and even better life.
<br />
<br />Keep us updated
 
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