Is a sweat test necessary at this point?

[MamaBear]

I'm looking for advice for my sister-inlaw regarding my niece.  My niece recently turned 1 and weighed in at 15lbs 4oz at her check-up.  She was born on her due date and weighed about 8 and a half lbs.  She is the youngest in her family of six kids, and although not "small" at birth, was the smallest one of the bunch. She quickly fell off the charts for height and weight, and has been going in for "weight checks" frequently all year.  After her one year check the doctor suggested she get some blood work done, and all the tests came back negative, except she was anemic.  She was tested for CF in the newborn screening, and my sister-in-law has also been tested and is not a carrier (for the basic mutations).  The doctor is now suggesting she have a sweat test done,  "just to rule it out" and my sister-in-law isn't sure if it is necessary.
Although I have CF, I am not a blood relative to my niece.  And I also don't know much about atypical CF since I have the most basic kind.  My thought is that if she needed to be on enzymes she would be having a lot of foul poops everyday, and she is the opposite, she has solid poops about every day or so....
Does this sound like CF? Should she get the sweat test done?
Thanks for your support!

 

[MamaBear]

I'm looking for advice for my sister-inlaw regarding my niece. My niece recently turned 1 and weighed in at 15lbs 4oz at her check-up. She was born on her due date and weighed about 8 and a half lbs. She is the youngest in her family of six kids, and although not "small" at birth, was the smallest one of the bunch. She quickly fell off the charts for height and weight, and has been going in for "weight checks" frequently all year. After her one year check the doctor suggested she get some blood work done, and all the tests came back negative, except she was anemic. She was tested for CF in the newborn screening, and my sister-in-law has also been tested and is not a carrier (for the basic mutations). The doctor is now suggesting she have a sweat test done, "just to rule it out" and my sister-in-law isn't sure if it is necessary.
Although I have CF, I am not a blood relative to my niece. And I also don't know much about atypical CF since I have the most basic kind. My thought is that if she needed to be on enzymes she would be having a lot of foul poops everyday, and she is the opposite, she has solid poops about every day or so....
Does this sound like CF? Should she get the sweat test done?
Thanks for your support!

 

[MamaBear]

<p>I'm looking for advice for my sister-inlaw regarding my niece. My niece recently turned 1 and weighed in at 15lbs 4oz at her check-up. She was born on her due date and weighed about 8 and a half lbs. She is the youngest in her family of six kids, and although not "small" at birth, was the smallest one of the bunch. She quickly fell off the charts for height and weight, and has been going in for "weight checks" frequently all year. After her one year check the doctor suggested she get some blood work done, and all the tests came back negative, except she was anemic. She was tested for CF in the newborn screening, and my sister-in-law has also been tested and is not a carrier (for the basic mutations). The doctor is now suggesting she have a sweat test done, "just to rule it out" and my sister-in-law isn't sure if it is necessary.
<p>Although I have CF, I am not a blood relative to my niece. And I also don't know much about atypical CF since I have the most basic kind. My thought is that if she needed to be on enzymes she would be having a lot of foul poops everyday, and she is the opposite, she has solid poops about every day or so....
<p>Does this sound like CF? Should she get the sweat test done?
<p>Thanks for your support!

 

[Ratatosk]

Being that there could be something going on with her due to dropping of the weight charts, IMO, it's be a good start.  Sweat tests are relatively inexpensive compared to genetic testing.  If it were my child, I'd want some answers as to what is going on with her and to rule out CF.

 

[Ratatosk]

Being that there could be something going on with her due to dropping of the weight charts, IMO, it's be a good start. Sweat tests are relatively inexpensive compared to genetic testing. If it were my child, I'd want some answers as to what is going on with her and to rule out CF.

 

[Ratatosk]

<p>Being that there could be something going on with her due to dropping of the weight charts, IMO, it's be a good start. Sweat tests are relatively inexpensive compared to genetic testing. If it were my child, I'd want some answers as to what is going on with her and to rule out CF.

 

[Mommafirst]

The newborn screen isn't fail proof. While it is a very small percentage, there is an incidence of false negatives. Since a sweat test is not invasive at all, it would be worthwhile to have it run.

 

[Mommafirst]

The newborn screen isn't fail proof. While it is a very small percentage, there is an incidence of false negatives. Since a sweat test is not invasive at all, it would be worthwhile to have it run.

 

[Mommafirst]

The newborn screen isn't fail proof. While it is a very small percentage, there is an incidence of false negatives. Since a sweat test is not invasive at all, it would be worthwhile to have it run.
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[bmombtoo]

I would have it done. My son is atypical and getting the diagnosis has turned out better than watching him be sick all the time and not knowing why.

 

[bmombtoo]

I would have it done. My son is atypical and getting the diagnosis has turned out better than watching him be sick all the time and not knowing why.

 

[bmombtoo]

I would have it done. My son is atypical and getting the diagnosis has turned out better than watching him be sick all the time and not knowing why.