tested for CF

[sammismum]

Hi i'm hoping that someone could put my mind at rest. My son has been on and off wheezy and short of breath since he was about 6 weeks old. He's now 13 months old. He has had one hospital admission with wheeze and has been given inhalers that do make some difference. He is a really good weight and has only ever had one chest infection. He has had several colds, but feel this is par for the course with babies. At our last check with the consultant i mentioned that on a few occasions samuel is coughing up phlegm onto his bib and swallowing when coughing at other times. The consultant feels that this is not typical of asthma as that produces a dry cough and so has done bloods to test for CF. I'm naturally worried sick now and keep thinking well he is actually a very sweaty baby, he doesn't taste very salty but when feeding him at night his hair is wet he gets so hot. Is it possible to have CF but not have many infections and not lose weight? His main bowel problem has always been chronic constipation not diarrhoea. The doctor has always said his chest is clear when listening with a stethascope. I'm confused and any answers to my questions would be gratefully received - i've got to wait 6 weeks for the result! thank you.

 

[sammismum]

Hi i'm hoping that someone could put my mind at rest. My son has been on and off wheezy and short of breath since he was about 6 weeks old. He's now 13 months old. He has had one hospital admission with wheeze and has been given inhalers that do make some difference. He is a really good weight and has only ever had one chest infection. He has had several colds, but feel this is par for the course with babies. At our last check with the consultant i mentioned that on a few occasions samuel is coughing up phlegm onto his bib and swallowing when coughing at other times. The consultant feels that this is not typical of asthma as that produces a dry cough and so has done bloods to test for CF. I'm naturally worried sick now and keep thinking well he is actually a very sweaty baby, he doesn't taste very salty but when feeding him at night his hair is wet he gets so hot. Is it possible to have CF but not have many infections and not lose weight? His main bowel problem has always been chronic constipation not diarrhoea. The doctor has always said his chest is clear when listening with a stethascope. I'm confused and any answers to my questions would be gratefully received - i've got to wait 6 weeks for the result! thank you.

 

[sammismum]

Hi i'm hoping that someone could put my mind at rest. My son has been on and off wheezy and short of breath since he was about 6 weeks old. He's now 13 months old. He has had one hospital admission with wheeze and has been given inhalers that do make some difference. He is a really good weight and has only ever had one chest infection. He has had several colds, but feel this is par for the course with babies. At our last check with the consultant i mentioned that on a few occasions samuel is coughing up phlegm onto his bib and swallowing when coughing at other times. The consultant feels that this is not typical of asthma as that produces a dry cough and so has done bloods to test for CF. I'm naturally worried sick now and keep thinking well he is actually a very sweaty baby, he doesn't taste very salty but when feeding him at night his hair is wet he gets so hot. Is it possible to have CF but not have many infections and not lose weight? His main bowel problem has always been chronic constipation not diarrhoea. The doctor has always said his chest is clear when listening with a stethascope. I'm confused and any answers to my questions would be gratefully received - i've got to wait 6 weeks for the result! thank you.

 

[sammismum]

Hi i'm hoping that someone could put my mind at rest. My son has been on and off wheezy and short of breath since he was about 6 weeks old. He's now 13 months old. He has had one hospital admission with wheeze and has been given inhalers that do make some difference. He is a really good weight and has only ever had one chest infection. He has had several colds, but feel this is par for the course with babies. At our last check with the consultant i mentioned that on a few occasions samuel is coughing up phlegm onto his bib and swallowing when coughing at other times. The consultant feels that this is not typical of asthma as that produces a dry cough and so has done bloods to test for CF. I'm naturally worried sick now and keep thinking well he is actually a very sweaty baby, he doesn't taste very salty but when feeding him at night his hair is wet he gets so hot. Is it possible to have CF but not have many infections and not lose weight? His main bowel problem has always been chronic constipation not diarrhoea. The doctor has always said his chest is clear when listening with a stethascope. I'm confused and any answers to my questions would be gratefully received - i've got to wait 6 weeks for the result! thank you.

 

[sammismum]

Hi i'm hoping that someone could put my mind at rest. My son has been on and off wheezy and short of breath since he was about 6 weeks old. He's now 13 months old. He has had one hospital admission with wheeze and has been given inhalers that do make some difference. He is a really good weight and has only ever had one chest infection. He has had several colds, but feel this is par for the course with babies. At our last check with the consultant i mentioned that on a few occasions samuel is coughing up phlegm onto his bib and swallowing when coughing at other times. The consultant feels that this is not typical of asthma as that produces a dry cough and so has done bloods to test for CF. I'm naturally worried sick now and keep thinking well he is actually a very sweaty baby, he doesn't taste very salty but when feeding him at night his hair is wet he gets so hot. Is it possible to have CF but not have many infections and not lose weight? His main bowel problem has always been chronic constipation not diarrhoea. The doctor has always said his chest is clear when listening with a stethascope. I'm confused and any answers to my questions would be gratefully received - i've got to wait 6 weeks for the result! thank you.

 

[JazzysMom]

First of all congratulations on your baby.

Now CF can present itself in many ways. Even tho their are "common" symptoms they dont all apply to all CFers or at the same time and in the same way. Most CFers are pancreatic insufficient & have weight loss problems due to it. Some dont have this issue.

Constipation is as much of an issue with CF as diahrea. Many babies are born/diagnosed due to blockages.

The newborn screening that you speak of is as basic as you get with the genetic screening. There are 1500 known CF mutations to check for. Respiratory issues also very.

I had no lung issues until after my diagnoses at 7 years old. I was tested due to the diahrea issues.

To worry about the unknown will drive you looney right now. Get the most extensive testing (full genetic panel by ambry is the best) and take one day at a time.

I know that is easier said then done, but it could as easily be something else other then CF.

If you still have ?? or concerns until you get the testing (it takes time) please feel free to come and ask!

Hugs

 

[JazzysMom]

First of all congratulations on your baby.

Now CF can present itself in many ways. Even tho their are "common" symptoms they dont all apply to all CFers or at the same time and in the same way. Most CFers are pancreatic insufficient & have weight loss problems due to it. Some dont have this issue.

Constipation is as much of an issue with CF as diahrea. Many babies are born/diagnosed due to blockages.

The newborn screening that you speak of is as basic as you get with the genetic screening. There are 1500 known CF mutations to check for. Respiratory issues also very.

I had no lung issues until after my diagnoses at 7 years old. I was tested due to the diahrea issues.

To worry about the unknown will drive you looney right now. Get the most extensive testing (full genetic panel by ambry is the best) and take one day at a time.

I know that is easier said then done, but it could as easily be something else other then CF.

If you still have ?? or concerns until you get the testing (it takes time) please feel free to come and ask!

Hugs

 

[JazzysMom]

First of all congratulations on your baby.

Now CF can present itself in many ways. Even tho their are "common" symptoms they dont all apply to all CFers or at the same time and in the same way. Most CFers are pancreatic insufficient & have weight loss problems due to it. Some dont have this issue.

Constipation is as much of an issue with CF as diahrea. Many babies are born/diagnosed due to blockages.

The newborn screening that you speak of is as basic as you get with the genetic screening. There are 1500 known CF mutations to check for. Respiratory issues also very.

I had no lung issues until after my diagnoses at 7 years old. I was tested due to the diahrea issues.

To worry about the unknown will drive you looney right now. Get the most extensive testing (full genetic panel by ambry is the best) and take one day at a time.

I know that is easier said then done, but it could as easily be something else other then CF.

If you still have ?? or concerns until you get the testing (it takes time) please feel free to come and ask!

Hugs

 

[JazzysMom]

First of all congratulations on your baby.

Now CF can present itself in many ways. Even tho their are "common" symptoms they dont all apply to all CFers or at the same time and in the same way. Most CFers are pancreatic insufficient & have weight loss problems due to it. Some dont have this issue.

Constipation is as much of an issue with CF as diahrea. Many babies are born/diagnosed due to blockages.

The newborn screening that you speak of is as basic as you get with the genetic screening. There are 1500 known CF mutations to check for. Respiratory issues also very.

I had no lung issues until after my diagnoses at 7 years old. I was tested due to the diahrea issues.

To worry about the unknown will drive you looney right now. Get the most extensive testing (full genetic panel by ambry is the best) and take one day at a time.

I know that is easier said then done, but it could as easily be something else other then CF.

If you still have ?? or concerns until you get the testing (it takes time) please feel free to come and ask!

Hugs

 

[JazzysMom]

First of all congratulations on your baby.

Now CF can present itself in many ways. Even tho their are "common" symptoms they dont all apply to all CFers or at the same time and in the same way. Most CFers are pancreatic insufficient & have weight loss problems due to it. Some dont have this issue.

Constipation is as much of an issue with CF as diahrea. Many babies are born/diagnosed due to blockages.

The newborn screening that you speak of is as basic as you get with the genetic screening. There are 1500 known CF mutations to check for. Respiratory issues also very.

I had no lung issues until after my diagnoses at 7 years old. I was tested due to the diahrea issues.

To worry about the unknown will drive you looney right now. Get the most extensive testing (full genetic panel by ambry is the best) and take one day at a time.

I know that is easier said then done, but it could as easily be something else other then CF.

If you still have ?? or concerns until you get the testing (it takes time) please feel free to come and ask!

Hugs

 

[Alyssa]

Ditto to Melissa's post - very well said....

I just want to say similar things and give examples too

my kids are pancreatic sufficient so digestive issues have never been a problem. My kids also did not display any lung symptoms until age 5 years and 21 years.

Waiting is hard -- but getting an early diagnosis (<b>if</b> he has CF -- and it is still very much an <b>IF </b>at this point) it will be very beneficial to find out early -- my daughter went 8 years misdiagnosed because of a normal sweat test number. We are very fortunate that she did not suffer any permanent lung damage as a result of not getting the correct care for those 8 years. Also, my son would not be getting the correct CF care right now had it not been for genetic testing done as a result of her genetic test results & symptoms.

Please read my blog - link below (first entry at the bottom of the blog page) about sweat test results etc -- it's best to be informed when you start testing for CF.

Feel free to ask any more questions either on this post or in a private message to me.

Best wishes and please be sure to keep us posted on what happens!!!

 

[Alyssa]

Ditto to Melissa's post - very well said....

I just want to say similar things and give examples too

my kids are pancreatic sufficient so digestive issues have never been a problem. My kids also did not display any lung symptoms until age 5 years and 21 years.

Waiting is hard -- but getting an early diagnosis (<b>if</b> he has CF -- and it is still very much an <b>IF </b>at this point) it will be very beneficial to find out early -- my daughter went 8 years misdiagnosed because of a normal sweat test number. We are very fortunate that she did not suffer any permanent lung damage as a result of not getting the correct care for those 8 years. Also, my son would not be getting the correct CF care right now had it not been for genetic testing done as a result of her genetic test results & symptoms.

Please read my blog - link below (first entry at the bottom of the blog page) about sweat test results etc -- it's best to be informed when you start testing for CF.

Feel free to ask any more questions either on this post or in a private message to me.

Best wishes and please be sure to keep us posted on what happens!!!

 

[Alyssa]

Ditto to Melissa's post - very well said....

I just want to say similar things and give examples too

my kids are pancreatic sufficient so digestive issues have never been a problem. My kids also did not display any lung symptoms until age 5 years and 21 years.

Waiting is hard -- but getting an early diagnosis (<b>if</b> he has CF -- and it is still very much an <b>IF </b>at this point) it will be very beneficial to find out early -- my daughter went 8 years misdiagnosed because of a normal sweat test number. We are very fortunate that she did not suffer any permanent lung damage as a result of not getting the correct care for those 8 years. Also, my son would not be getting the correct CF care right now had it not been for genetic testing done as a result of her genetic test results & symptoms.

Please read my blog - link below (first entry at the bottom of the blog page) about sweat test results etc -- it's best to be informed when you start testing for CF.

Feel free to ask any more questions either on this post or in a private message to me.

Best wishes and please be sure to keep us posted on what happens!!!

 

[Alyssa]

Ditto to Melissa's post - very well said....

I just want to say similar things and give examples too

my kids are pancreatic sufficient so digestive issues have never been a problem. My kids also did not display any lung symptoms until age 5 years and 21 years.

Waiting is hard -- but getting an early diagnosis (<b>if</b> he has CF -- and it is still very much an <b>IF </b>at this point) it will be very beneficial to find out early -- my daughter went 8 years misdiagnosed because of a normal sweat test number. We are very fortunate that she did not suffer any permanent lung damage as a result of not getting the correct care for those 8 years. Also, my son would not be getting the correct CF care right now had it not been for genetic testing done as a result of her genetic test results & symptoms.

Please read my blog - link below (first entry at the bottom of the blog page) about sweat test results etc -- it's best to be informed when you start testing for CF.

Feel free to ask any more questions either on this post or in a private message to me.

Best wishes and please be sure to keep us posted on what happens!!!

 

[Alyssa]

Ditto to Melissa's post - very well said....

I just want to say similar things and give examples too

my kids are pancreatic sufficient so digestive issues have never been a problem. My kids also did not display any lung symptoms until age 5 years and 21 years.

Waiting is hard -- but getting an early diagnosis (<b>if</b> he has CF -- and it is still very much an <b>IF </b>at this point) it will be very beneficial to find out early -- my daughter went 8 years misdiagnosed because of a normal sweat test number. We are very fortunate that she did not suffer any permanent lung damage as a result of not getting the correct care for those 8 years. Also, my son would not be getting the correct CF care right now had it not been for genetic testing done as a result of her genetic test results & symptoms.

Please read my blog - link below (first entry at the bottom of the blog page) about sweat test results etc -- it's best to be informed when you start testing for CF.

Feel free to ask any more questions either on this post or in a private message to me.

Best wishes and please be sure to keep us posted on what happens!!!

 

[Alyssa]

Oh, and how much he sweats doesn't have anything to do with CF - it's the content of chloride in the sweat that is measured. Yes, those with a high sweat test number will taste salty if you lick their skin, but it's hardly scientific best to wait out the blood test results.

In the mean time, try and find out how many genes they are testing for. A full genetic test looks for all know CF genes, currently over 1,500 genes. There are several cheaper tests that only look for 100 or less. To me this is completely pointless and not fair at all to the person being tested. Why look for less that what are known when it could so easily miss any possible two genes?

If you test was sent to Ambry, you will be able to ask the ambry guy on this site for information about the test - he usually has basic information like when the blood was received, how soon it will be finished and how many genes the test is looking for.

 

[Alyssa]

Oh, and how much he sweats doesn't have anything to do with CF - it's the content of chloride in the sweat that is measured. Yes, those with a high sweat test number will taste salty if you lick their skin, but it's hardly scientific best to wait out the blood test results.

In the mean time, try and find out how many genes they are testing for. A full genetic test looks for all know CF genes, currently over 1,500 genes. There are several cheaper tests that only look for 100 or less. To me this is completely pointless and not fair at all to the person being tested. Why look for less that what are known when it could so easily miss any possible two genes?

If you test was sent to Ambry, you will be able to ask the ambry guy on this site for information about the test - he usually has basic information like when the blood was received, how soon it will be finished and how many genes the test is looking for.

 

[Alyssa]

Oh, and how much he sweats doesn't have anything to do with CF - it's the content of chloride in the sweat that is measured. Yes, those with a high sweat test number will taste salty if you lick their skin, but it's hardly scientific best to wait out the blood test results.

In the mean time, try and find out how many genes they are testing for. A full genetic test looks for all know CF genes, currently over 1,500 genes. There are several cheaper tests that only look for 100 or less. To me this is completely pointless and not fair at all to the person being tested. Why look for less that what are known when it could so easily miss any possible two genes?

If you test was sent to Ambry, you will be able to ask the ambry guy on this site for information about the test - he usually has basic information like when the blood was received, how soon it will be finished and how many genes the test is looking for.

 

[Alyssa]

Oh, and how much he sweats doesn't have anything to do with CF - it's the content of chloride in the sweat that is measured. Yes, those with a high sweat test number will taste salty if you lick their skin, but it's hardly scientific best to wait out the blood test results.

In the mean time, try and find out how many genes they are testing for. A full genetic test looks for all know CF genes, currently over 1,500 genes. There are several cheaper tests that only look for 100 or less. To me this is completely pointless and not fair at all to the person being tested. Why look for less that what are known when it could so easily miss any possible two genes?

If you test was sent to Ambry, you will be able to ask the ambry guy on this site for information about the test - he usually has basic information like when the blood was received, how soon it will be finished and how many genes the test is looking for.

 

[Alyssa]

Oh, and how much he sweats doesn't have anything to do with CF - it's the content of chloride in the sweat that is measured. Yes, those with a high sweat test number will taste salty if you lick their skin, but it's hardly scientific best to wait out the blood test results.

In the mean time, try and find out how many genes they are testing for. A full genetic test looks for all know CF genes, currently over 1,500 genes. There are several cheaper tests that only look for 100 or less. To me this is completely pointless and not fair at all to the person being tested. Why look for less that what are known when it could so easily miss any possible two genes?

If you test was sent to Ambry, you will be able to ask the ambry guy on this site for information about the test - he usually has basic information like when the blood was received, how soon it will be finished and how many genes the test is looking for.