So many symptoms.......the sweat test which was the only dx tool for years is not unflawed. IMHO it should be used in conjunction with genetic testing & evaluation of symptoms. There is always the possibility that the other mutation (if it is exists) is an undiscovered one. Would they consider treating your child as IF there was positive CF dx and that way minimal damage might be done. In the meantime you can push for additional testing etc as the extended panel adds more mutations over the years. As far as "not looking like a CFer". That statement alone pisses me off big time. Not everyone is sickly looking from day 1.....Good Luck!
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What would you do?
- Thread starter lalasmomallie
- Start date
lalasmomallie
New member
Jazzysmom, I know what you mean about their comment re:"the look of a CF kid". That alone made me concerned that they didn't have a clue what CF is really all about. I feel like I'm stuck between a rock and a hard place since we have only 1 CF doc in our area. He seems to put ALOT of weight on the sweat test number. Actually he's putting <u>everything</u> on it. We are thinking about looking into another CF clinic that is about 2 hours away. I'm wondering if they would consider seeing her after the rest of us get the Ambry panels completed. Obviously if another mutation shows up on either Dad or me or any of the other kids I would <b>assume</b> that the CF doc here would take another look at the 3 y/o but what do I know?!?!? Anyway thanks for the advice everyone!
lalasmomallie
New member
Jazzysmom, I know what you mean about their comment re:"the look of a CF kid". That alone made me concerned that they didn't have a clue what CF is really all about. I feel like I'm stuck between a rock and a hard place since we have only 1 CF doc in our area. He seems to put ALOT of weight on the sweat test number. Actually he's putting <u>everything</u> on it. We are thinking about looking into another CF clinic that is about 2 hours away. I'm wondering if they would consider seeing her after the rest of us get the Ambry panels completed. Obviously if another mutation shows up on either Dad or me or any of the other kids I would <b>assume</b> that the CF doc here would take another look at the 3 y/o but what do I know?!?!? Anyway thanks for the advice everyone!
lalasmomallie
New member
Jazzysmom, I know what you mean about their comment re:"the look of a CF kid". That alone made me concerned that they didn't have a clue what CF is really all about. I feel like I'm stuck between a rock and a hard place since we have only 1 CF doc in our area. He seems to put ALOT of weight on the sweat test number. Actually he's putting <u>everything</u> on it. We are thinking about looking into another CF clinic that is about 2 hours away. I'm wondering if they would consider seeing her after the rest of us get the Ambry panels completed. Obviously if another mutation shows up on either Dad or me or any of the other kids I would <b>assume</b> that the CF doc here would take another look at the 3 y/o but what do I know?!?!? Anyway thanks for the advice everyone!
lalasmomallie
New member
The problem (I think) is that the doctors just aren't familiar enough with CF. I understand that doctors are only human and have a limit as to what they can know, however, I just wish that for once, I could hear one of them say, "well you know, I just don't really know what is going on". I would appreciate the honesty much more than them making something up just to give me an answer. The other problem we've experienced is that sometimes they <b>may</b> say that they don't know what is wrong so therefore we should just ignore it all together. We have actually been told "That if the problem is worth treating her body will become more symptomatic and will tell us when it's time to look at the problems more closely". I guess this is the "wait and see" approach. I don't know about you all, but I am not comfortable with this at all! I don't want to jump the gun and go to extremes but I also don't want for whatever is going on to get to the point that damage has been done that could have been prevented. Anyway, I guess we'll be looking into other CF clinics in the area. Thanks for the support and encouragement.
lalasmomallie
New member
The problem (I think) is that the doctors just aren't familiar enough with CF. I understand that doctors are only human and have a limit as to what they can know, however, I just wish that for once, I could hear one of them say, "well you know, I just don't really know what is going on". I would appreciate the honesty much more than them making something up just to give me an answer. The other problem we've experienced is that sometimes they <b>may</b> say that they don't know what is wrong so therefore we should just ignore it all together. We have actually been told "That if the problem is worth treating her body will become more symptomatic and will tell us when it's time to look at the problems more closely". I guess this is the "wait and see" approach. I don't know about you all, but I am not comfortable with this at all! I don't want to jump the gun and go to extremes but I also don't want for whatever is going on to get to the point that damage has been done that could have been prevented. Anyway, I guess we'll be looking into other CF clinics in the area. Thanks for the support and encouragement.
lalasmomallie
New member
The problem (I think) is that the doctors just aren't familiar enough with CF. I understand that doctors are only human and have a limit as to what they can know, however, I just wish that for once, I could hear one of them say, "well you know, I just don't really know what is going on". I would appreciate the honesty much more than them making something up just to give me an answer. The other problem we've experienced is that sometimes they <b>may</b> say that they don't know what is wrong so therefore we should just ignore it all together. We have actually been told "That if the problem is worth treating her body will become more symptomatic and will tell us when it's time to look at the problems more closely". I guess this is the "wait and see" approach. I don't know about you all, but I am not comfortable with this at all! I don't want to jump the gun and go to extremes but I also don't want for whatever is going on to get to the point that damage has been done that could have been prevented. Anyway, I guess we'll be looking into other CF clinics in the area. Thanks for the support and encouragement.
To answer your original question: If this was my kiddo, and I knew what I know now, I would seek a second opinion and drive 2 hours to another CF center. The fact that the full Ambry panel showed only 1 mutation does seem to make one question. But I think a second sweat test is warranted.
The thing that broke my heart was your comment that she lays around on the couch and sleeps. Our poor child started really showing her symptoms around the same time we put her in a daycare full time. And the teacher would write on her little daily activity paper "she just wants me to hold her all day". This was SO NOT like my child, and yet I wrote it off to transition to the daycare, etc.
I bring ALOT of baggage to this conversation but as I said, something doesn't sound right and I'm not convinced that you have exhausted all of your possibilities. Good luck to you and let us know.
The thing that broke my heart was your comment that she lays around on the couch and sleeps. Our poor child started really showing her symptoms around the same time we put her in a daycare full time. And the teacher would write on her little daily activity paper "she just wants me to hold her all day". This was SO NOT like my child, and yet I wrote it off to transition to the daycare, etc.
I bring ALOT of baggage to this conversation but as I said, something doesn't sound right and I'm not convinced that you have exhausted all of your possibilities. Good luck to you and let us know.
To answer your original question: If this was my kiddo, and I knew what I know now, I would seek a second opinion and drive 2 hours to another CF center. The fact that the full Ambry panel showed only 1 mutation does seem to make one question. But I think a second sweat test is warranted.
The thing that broke my heart was your comment that she lays around on the couch and sleeps. Our poor child started really showing her symptoms around the same time we put her in a daycare full time. And the teacher would write on her little daily activity paper "she just wants me to hold her all day". This was SO NOT like my child, and yet I wrote it off to transition to the daycare, etc.
I bring ALOT of baggage to this conversation but as I said, something doesn't sound right and I'm not convinced that you have exhausted all of your possibilities. Good luck to you and let us know.
The thing that broke my heart was your comment that she lays around on the couch and sleeps. Our poor child started really showing her symptoms around the same time we put her in a daycare full time. And the teacher would write on her little daily activity paper "she just wants me to hold her all day". This was SO NOT like my child, and yet I wrote it off to transition to the daycare, etc.
I bring ALOT of baggage to this conversation but as I said, something doesn't sound right and I'm not convinced that you have exhausted all of your possibilities. Good luck to you and let us know.
To answer your original question: If this was my kiddo, and I knew what I know now, I would seek a second opinion and drive 2 hours to another CF center. The fact that the full Ambry panel showed only 1 mutation does seem to make one question. But I think a second sweat test is warranted.
The thing that broke my heart was your comment that she lays around on the couch and sleeps. Our poor child started really showing her symptoms around the same time we put her in a daycare full time. And the teacher would write on her little daily activity paper "she just wants me to hold her all day". This was SO NOT like my child, and yet I wrote it off to transition to the daycare, etc.
I bring ALOT of baggage to this conversation but as I said, something doesn't sound right and I'm not convinced that you have exhausted all of your possibilities. Good luck to you and let us know.
The thing that broke my heart was your comment that she lays around on the couch and sleeps. Our poor child started really showing her symptoms around the same time we put her in a daycare full time. And the teacher would write on her little daily activity paper "she just wants me to hold her all day". This was SO NOT like my child, and yet I wrote it off to transition to the daycare, etc.
I bring ALOT of baggage to this conversation but as I said, something doesn't sound right and I'm not convinced that you have exhausted all of your possibilities. Good luck to you and let us know.
lalasmomallie
New member
Dana-thanks for your comments. It was scary ,however, to read your remarks about the daycare saying she just wanted to be held all the time. My daughter is in a moms day out program at our church and at first they would comment on what a "snuggler" she was. They would all comment on how she would always climb up on their laps even during play time. Then it got to the point when they would ask me if she didn't sleep the night before because she seemed so tired. I didn't think much about it but then it got to where she would sleep up to 14 hours at night and then take a 2-3 hour nap during the day. Then there was the time that we had taken her to see an infectious disease doc at Vanderbilt and she actually fell asleep on the exam table! What 3 year old does this!?!? All the doc could say was "Yep, that's a new one". AAAHHH!!! Anyway, I appreciate hearing similar experiences - not because I want CF to be our reason - but because it makes me feel like I'm not alone with these strange symptoms that just don't seem to add up. Thanks for sharing with me!
Allie
Allie
lalasmomallie
New member
Dana-thanks for your comments. It was scary ,however, to read your remarks about the daycare saying she just wanted to be held all the time. My daughter is in a moms day out program at our church and at first they would comment on what a "snuggler" she was. They would all comment on how she would always climb up on their laps even during play time. Then it got to the point when they would ask me if she didn't sleep the night before because she seemed so tired. I didn't think much about it but then it got to where she would sleep up to 14 hours at night and then take a 2-3 hour nap during the day. Then there was the time that we had taken her to see an infectious disease doc at Vanderbilt and she actually fell asleep on the exam table! What 3 year old does this!?!? All the doc could say was "Yep, that's a new one". AAAHHH!!! Anyway, I appreciate hearing similar experiences - not because I want CF to be our reason - but because it makes me feel like I'm not alone with these strange symptoms that just don't seem to add up. Thanks for sharing with me!
Allie
Allie
lalasmomallie
New member
Dana-thanks for your comments. It was scary ,however, to read your remarks about the daycare saying she just wanted to be held all the time. My daughter is in a moms day out program at our church and at first they would comment on what a "snuggler" she was. They would all comment on how she would always climb up on their laps even during play time. Then it got to the point when they would ask me if she didn't sleep the night before because she seemed so tired. I didn't think much about it but then it got to where she would sleep up to 14 hours at night and then take a 2-3 hour nap during the day. Then there was the time that we had taken her to see an infectious disease doc at Vanderbilt and she actually fell asleep on the exam table! What 3 year old does this!?!? All the doc could say was "Yep, that's a new one". AAAHHH!!! Anyway, I appreciate hearing similar experiences - not because I want CF to be our reason - but because it makes me feel like I'm not alone with these strange symptoms that just don't seem to add up. Thanks for sharing with me!
Allie
Allie