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How were you diagnosed with cf?
- Thread starter Eirin27
- Start date
I assume you are asking how our kids were dx'ed, given the forum you posted in?
We knew 'something' was wrong with my dd from the time she was 3 and essentially stopped growing and gaining weight and it was a wild goose chase for years trying to figure out what was wrong with her. Finally she was referred to an endocrinologist- and it happened to be one who sees a lot of cf kids at our center- and one of the things she ordered right off was a sweat test. I'd never even HEARD of a sweat test before that day! Five days after that appt we had our dx. It was shocking but finally put so many puzzle pieces together.
My oldest has also come to be diagnosed with CRMS.
We knew 'something' was wrong with my dd from the time she was 3 and essentially stopped growing and gaining weight and it was a wild goose chase for years trying to figure out what was wrong with her. Finally she was referred to an endocrinologist- and it happened to be one who sees a lot of cf kids at our center- and one of the things she ordered right off was a sweat test. I'd never even HEARD of a sweat test before that day! Five days after that appt we had our dx. It was shocking but finally put so many puzzle pieces together.
My oldest has also come to be diagnosed with CRMS.
I assume you are asking how our kids were dx'ed, given the forum you posted in?
We knew 'something' was wrong with my dd from the time she was 3 and essentially stopped growing and gaining weight and it was a wild goose chase for years trying to figure out what was wrong with her. Finally she was referred to an endocrinologist- and it happened to be one who sees a lot of cf kids at our center- and one of the things she ordered right off was a sweat test. I'd never even HEARD of a sweat test before that day! Five days after that appt we had our dx. It was shocking but finally put so many puzzle pieces together.
My oldest has also come to be diagnosed with CRMS.
We knew 'something' was wrong with my dd from the time she was 3 and essentially stopped growing and gaining weight and it was a wild goose chase for years trying to figure out what was wrong with her. Finally she was referred to an endocrinologist- and it happened to be one who sees a lot of cf kids at our center- and one of the things she ordered right off was a sweat test. I'd never even HEARD of a sweat test before that day! Five days after that appt we had our dx. It was shocking but finally put so many puzzle pieces together.
My oldest has also come to be diagnosed with CRMS.
imported_Momto2
New member
1971. I was three months old, had lost 1.5 pounds from birthweight, already had several cases of pneumonia and a collapsed lung, severe failure to thrive. Diagnosed via sweat test, which tested extremely high. No brainer, classic lung and GI symptoms.
imported_Momto2
New member
1971. I was three months old, had lost 1.5 pounds from birthweight, already had several cases of pneumonia and a collapsed lung, severe failure to thrive. Diagnosed via sweat test, which tested extremely high. No brainer, classic lung and GI symptoms.
My daughter was diagnosed after the asthma doctor had her admitted to the ER 3 times in about two weeks with recurrent pneumonia and dangerous O2 saturation levels. At a clinic appointment her mother told him look, I don't think my daughter is a normal healthy child. She coughs constantly despite her asthma medications and she takes about 10 nasty poops a day. This was the eureka moment when the asthma doctor put the digestive and lung issues together and ordered a sweat test.
The asthma doctor called back right away when her and her mom were on their way home from the test. I guess he had kind of a hard time telling her over the phone and just kept saying "you know the reason I'm calling, right?" and she was just like "ya about the test results. Are they in?" Finally, he broke it to her that she had scored a 120 and needed to check into children's hospital later that day or right away the next morning.
I remember I was at a friends house and was not at all expecting them to show up. So when her mom called me on my cell phone and said she was out front, I knew deep in my gut that it was bad news. I opened the door and her mom was crying and just nodding her head saying in between sobs, "she has it, she has it". I sent my daughter upstairs to play with some toys while her mother and I sat on the couch ballin' our eyes out and all the while her saying, "I can't watch her die! I just can't."
It was the single most devastating day of my life but at the same time her diagnosis was a blessing. She's in much better health now, and I'm not sure she would have survived another winter without it. The next morning we packed up our stuff and headed to children's for a 3 week stay. We were out just in time for last halloween and it was great to see her running up and down the streets trick or treating when the previous year we had to carry her from house to house.
The asthma doctor called back right away when her and her mom were on their way home from the test. I guess he had kind of a hard time telling her over the phone and just kept saying "you know the reason I'm calling, right?" and she was just like "ya about the test results. Are they in?" Finally, he broke it to her that she had scored a 120 and needed to check into children's hospital later that day or right away the next morning.
I remember I was at a friends house and was not at all expecting them to show up. So when her mom called me on my cell phone and said she was out front, I knew deep in my gut that it was bad news. I opened the door and her mom was crying and just nodding her head saying in between sobs, "she has it, she has it". I sent my daughter upstairs to play with some toys while her mother and I sat on the couch ballin' our eyes out and all the while her saying, "I can't watch her die! I just can't."
It was the single most devastating day of my life but at the same time her diagnosis was a blessing. She's in much better health now, and I'm not sure she would have survived another winter without it. The next morning we packed up our stuff and headed to children's for a 3 week stay. We were out just in time for last halloween and it was great to see her running up and down the streets trick or treating when the previous year we had to carry her from house to house.
My daughter was diagnosed after the asthma doctor had her admitted to the ER 3 times in about two weeks with recurrent pneumonia and dangerous O2 saturation levels. At a clinic appointment her mother told him look, I don't think my daughter is a normal healthy child. She coughs constantly despite her asthma medications and she takes about 10 nasty poops a day. This was the eureka moment when the asthma doctor put the digestive and lung issues together and ordered a sweat test.
The asthma doctor called back right away when her and her mom were on their way home from the test. I guess he had kind of a hard time telling her over the phone and just kept saying "you know the reason I'm calling, right?" and she was just like "ya about the test results. Are they in?" Finally, he broke it to her that she had scored a 120 and needed to check into children's hospital later that day or right away the next morning.
I remember I was at a friends house and was not at all expecting them to show up. So when her mom called me on my cell phone and said she was out front, I knew deep in my gut that it was bad news. I opened the door and her mom was crying and just nodding her head saying in between sobs, "she has it, she has it". I sent my daughter upstairs to play with some toys while her mother and I sat on the couch ballin' our eyes out and all the while her saying, "I can't watch her die! I just can't."
It was the single most devastating day of my life but at the same time her diagnosis was a blessing. She's in much better health now, and I'm not sure she would have survived another winter without it. The next morning we packed up our stuff and headed to children's for a 3 week stay. We were out just in time for last halloween and it was great to see her running up and down the streets trick or treating when the previous year we had to carry her from house to house.
The asthma doctor called back right away when her and her mom were on their way home from the test. I guess he had kind of a hard time telling her over the phone and just kept saying "you know the reason I'm calling, right?" and she was just like "ya about the test results. Are they in?" Finally, he broke it to her that she had scored a 120 and needed to check into children's hospital later that day or right away the next morning.
I remember I was at a friends house and was not at all expecting them to show up. So when her mom called me on my cell phone and said she was out front, I knew deep in my gut that it was bad news. I opened the door and her mom was crying and just nodding her head saying in between sobs, "she has it, she has it". I sent my daughter upstairs to play with some toys while her mother and I sat on the couch ballin' our eyes out and all the while her saying, "I can't watch her die! I just can't."
It was the single most devastating day of my life but at the same time her diagnosis was a blessing. She's in much better health now, and I'm not sure she would have survived another winter without it. The next morning we packed up our stuff and headed to children's for a 3 week stay. We were out just in time for last halloween and it was great to see her running up and down the streets trick or treating when the previous year we had to carry her from house to house.
Well yes i was refering to your children or you,both..
Our story for example began in 2007.My son was diagnosed when he was 4 months and a half old.He had issues from his birthday but no doctor ever assumed that something wrong was going on...He was born and he had myconium ,stayed in babies ER for 5 days cause he had difficulty in breathing and we weighted only 1900 kilos.He stayed another 7 days in an incubator cuase he had icterus and many diarrheas too that doctors assumed was because of some milk allergy...Everything was allright with my baby according to the doctors ...Now that i think of all these facts all of them pointed out that there was problem and nobody could see it....My little boy was at the time diagnosed with GERD in addition he was vomiting a lot after his meals(milk) for the next three months.
When he was 4 months he had a normal weight although he wasnt gaining it with the same rythm as before..At the same time due to an urination tract infection he had (didnt know that he had at the time,we learned it later when we entered hospital) he developed small fever.But my doctor didnt find it worrying..cause of it my son was vomiting little more often and it also happened to be very hot days at the time (37 C) .I remember that it was weekend and i kept talking to my pediatrician-asking her of what o do-she was away from the city at the moment for holiday and i was waiting her to return to examine my baby..But while waiting her to return my son was looking worse and he always was so sleepy ..So we decided to immediatelly go him to a public hospital ..We ended up in dehydrated( and its very well known how easily kids with cf can be dehydrated)..Still the doctors of the hospital didnt suspected that it could be a cf case ..we stayed almost two weeks in hospital my baby taking antiviotics for the UTI and doing variables blood tests to see if anything else was wrong.Nothing seemed out of normal and while waiting a few tests results the doctors permitted us to return home.When we were finally on our way back (after two long weeks full of stress and worries) home only after two hours of leaving the hospital we were called to go back cause they had the latest results of my babies blood tests and he had very low levels of body electrolytes -he was dehydrated again although he had just leaved hospital and he had been watched after so many doctors...
And that was the time a doctor though of us doing a sweat test that prooved positive of course..We then made dna test that prooved our son had cf...
Really sorry for the big reply but for me it was such a traumatic experience all these and for my son too although he can remember them now-he has felt them..I remember my eyes were swollen for many days from crying at the first few days we entered the hospital and at the end of it for even more when we learned what our child had.It was the fear of the unknown and the uncertainty about the comming future that affected me the most..I made a couple of years to cope with this situation ,i cried a lot at the time ...But get it through ,become stronger ..
Our story for example began in 2007.My son was diagnosed when he was 4 months and a half old.He had issues from his birthday but no doctor ever assumed that something wrong was going on...He was born and he had myconium ,stayed in babies ER for 5 days cause he had difficulty in breathing and we weighted only 1900 kilos.He stayed another 7 days in an incubator cuase he had icterus and many diarrheas too that doctors assumed was because of some milk allergy...Everything was allright with my baby according to the doctors ...Now that i think of all these facts all of them pointed out that there was problem and nobody could see it....My little boy was at the time diagnosed with GERD in addition he was vomiting a lot after his meals(milk) for the next three months.
When he was 4 months he had a normal weight although he wasnt gaining it with the same rythm as before..At the same time due to an urination tract infection he had (didnt know that he had at the time,we learned it later when we entered hospital) he developed small fever.But my doctor didnt find it worrying..cause of it my son was vomiting little more often and it also happened to be very hot days at the time (37 C) .I remember that it was weekend and i kept talking to my pediatrician-asking her of what o do-she was away from the city at the moment for holiday and i was waiting her to return to examine my baby..But while waiting her to return my son was looking worse and he always was so sleepy ..So we decided to immediatelly go him to a public hospital ..We ended up in dehydrated( and its very well known how easily kids with cf can be dehydrated)..Still the doctors of the hospital didnt suspected that it could be a cf case ..we stayed almost two weeks in hospital my baby taking antiviotics for the UTI and doing variables blood tests to see if anything else was wrong.Nothing seemed out of normal and while waiting a few tests results the doctors permitted us to return home.When we were finally on our way back (after two long weeks full of stress and worries) home only after two hours of leaving the hospital we were called to go back cause they had the latest results of my babies blood tests and he had very low levels of body electrolytes -he was dehydrated again although he had just leaved hospital and he had been watched after so many doctors...
And that was the time a doctor though of us doing a sweat test that prooved positive of course..We then made dna test that prooved our son had cf...
Really sorry for the big reply but for me it was such a traumatic experience all these and for my son too although he can remember them now-he has felt them..I remember my eyes were swollen for many days from crying at the first few days we entered the hospital and at the end of it for even more when we learned what our child had.It was the fear of the unknown and the uncertainty about the comming future that affected me the most..I made a couple of years to cope with this situation ,i cried a lot at the time ...But get it through ,become stronger ..
Well yes i was refering to your children or you,both..
Our story for example began in 2007.My son was diagnosed when he was 4 months and a half old.He had issues from his birthday but no doctor ever assumed that something wrong was going on...He was born and he had myconium ,stayed in babies ER for 5 days cause he had difficulty in breathing and we weighted only 1900 kilos.He stayed another 7 days in an incubator cuase he had icterus and many diarrheas too that doctors assumed was because of some milk allergy...Everything was allright with my baby according to the doctors ...Now that i think of all these facts all of them pointed out that there was problem and nobody could see it....My little boy was at the time diagnosed with GERD in addition he was vomiting a lot after his meals(milk) for the next three months.
When he was 4 months he had a normal weight although he wasnt gaining it with the same rythm as before..At the same time due to an urination tract infection he had (didnt know that he had at the time,we learned it later when we entered hospital) he developed small fever.But my doctor didnt find it worrying..cause of it my son was vomiting little more often and it also happened to be very hot days at the time (37 C) .I remember that it was weekend and i kept talking to my pediatrician-asking her of what o do-she was away from the city at the moment for holiday and i was waiting her to return to examine my baby..But while waiting her to return my son was looking worse and he always was so sleepy ..So we decided to immediatelly go him to a public hospital ..We ended up in dehydrated( and its very well known how easily kids with cf can be dehydrated)..Still the doctors of the hospital didnt suspected that it could be a cf case ..we stayed almost two weeks in hospital my baby taking antiviotics for the UTI and doing variables blood tests to see if anything else was wrong.Nothing seemed out of normal and while waiting a few tests results the doctors permitted us to return home.When we were finally on our way back (after two long weeks full of stress and worries) home only after two hours of leaving the hospital we were called to go back cause they had the latest results of my babies blood tests and he had very low levels of body electrolytes -he was dehydrated again although he had just leaved hospital and he had been watched after so many doctors...
And that was the time a doctor though of us doing a sweat test that prooved positive of course..We then made dna test that prooved our son had cf...
Really sorry for the big reply but for me it was such a traumatic experience all these and for my son too although he can remember them now-he has felt them..I remember my eyes were swollen for many days from crying at the first few days we entered the hospital and at the end of it for even more when we learned what our child had.It was the fear of the unknown and the uncertainty about the comming future that affected me the most..I made a couple of years to cope with this situation ,i cried a lot at the time ...But get it through ,become stronger ..
Our story for example began in 2007.My son was diagnosed when he was 4 months and a half old.He had issues from his birthday but no doctor ever assumed that something wrong was going on...He was born and he had myconium ,stayed in babies ER for 5 days cause he had difficulty in breathing and we weighted only 1900 kilos.He stayed another 7 days in an incubator cuase he had icterus and many diarrheas too that doctors assumed was because of some milk allergy...Everything was allright with my baby according to the doctors ...Now that i think of all these facts all of them pointed out that there was problem and nobody could see it....My little boy was at the time diagnosed with GERD in addition he was vomiting a lot after his meals(milk) for the next three months.
When he was 4 months he had a normal weight although he wasnt gaining it with the same rythm as before..At the same time due to an urination tract infection he had (didnt know that he had at the time,we learned it later when we entered hospital) he developed small fever.But my doctor didnt find it worrying..cause of it my son was vomiting little more often and it also happened to be very hot days at the time (37 C) .I remember that it was weekend and i kept talking to my pediatrician-asking her of what o do-she was away from the city at the moment for holiday and i was waiting her to return to examine my baby..But while waiting her to return my son was looking worse and he always was so sleepy ..So we decided to immediatelly go him to a public hospital ..We ended up in dehydrated( and its very well known how easily kids with cf can be dehydrated)..Still the doctors of the hospital didnt suspected that it could be a cf case ..we stayed almost two weeks in hospital my baby taking antiviotics for the UTI and doing variables blood tests to see if anything else was wrong.Nothing seemed out of normal and while waiting a few tests results the doctors permitted us to return home.When we were finally on our way back (after two long weeks full of stress and worries) home only after two hours of leaving the hospital we were called to go back cause they had the latest results of my babies blood tests and he had very low levels of body electrolytes -he was dehydrated again although he had just leaved hospital and he had been watched after so many doctors...
And that was the time a doctor though of us doing a sweat test that prooved positive of course..We then made dna test that prooved our son had cf...
Really sorry for the big reply but for me it was such a traumatic experience all these and for my son too although he can remember them now-he has felt them..I remember my eyes were swollen for many days from crying at the first few days we entered the hospital and at the end of it for even more when we learned what our child had.It was the fear of the unknown and the uncertainty about the comming future that affected me the most..I made a couple of years to cope with this situation ,i cried a lot at the time ...But get it through ,become stronger ..
Anna started losing weight at around 5 months, despite eating and drinking. She became very lethargic and irritable. Over the course of a couple of weeks, she went down to 3.8kg, and pretty much gave up eating. Her paediatrician (who had typically been taking his well-deserved christmas holiday at the time) booked her into hospital immediately on his return. She was dehydrated, with seriously low NaCl. He narrowed the possibilities down to either kidney-related issues or CF, and booked all kinds of tests for her, including a sweat test, which came back with high results. A second sweat test was done a day later, which confirmed the diagnosis. Blood tests confirmed the mutations. Our hospital stay started on a Tuesday, her diagnosis was in by Friday, and we were out by Sunday, overwhelmed with anxiety but also relieved, armed with enzymes, and holding a happier, healthier child in our arms! Anna's diagnosis meant the doctor knew how to treat her to get her back to 'normal', and if scared of the unknown, at least understood the concept that this condition was 'manageable'. Her issues were initially digestive, and not lung-related.
Anna started losing weight at around 5 months, despite eating and drinking. She became very lethargic and irritable. Over the course of a couple of weeks, she went down to 3.8kg, and pretty much gave up eating. Her paediatrician (who had typically been taking his well-deserved christmas holiday at the time) booked her into hospital immediately on his return. She was dehydrated, with seriously low NaCl. He narrowed the possibilities down to either kidney-related issues or CF, and booked all kinds of tests for her, including a sweat test, which came back with high results. A second sweat test was done a day later, which confirmed the diagnosis. Blood tests confirmed the mutations. Our hospital stay started on a Tuesday, her diagnosis was in by Friday, and we were out by Sunday, overwhelmed with anxiety but also relieved, armed with enzymes, and holding a happier, healthier child in our arms! Anna's diagnosis meant the doctor knew how to treat her to get her back to 'normal', and if scared of the unknown, at least understood the concept that this condition was 'manageable'. Her issues were initially digestive, and not lung-related.
ForeverDance
New member
My DD was diagnosed at 1.5 weeks through newborn screening.
ForeverDance
New member
My DD was diagnosed at 1.5 weeks through newborn screening.