Mind if I ask a question about my baby?

[oneloopy1]

Hi all,

My DD is 17 months old and has been dx'd with failure to thrive since she was just a few months old. She's currently 16 lbs and has never been on the growth charts to date. We have done the allergy testing, celiacs, genetic inborn errors of metabolism and no dx for anything yet. Now we are about to start with our first sweat test. I'm pretty scared and I've already learned a lot from reading some threads here. I'm just thankful that I finally found a great GI Dr. who is going to help us.

My DD has tremendous difficulty gaining weight even though she eats like a horse. Her stools smell very foul but they are not loose or fatty. Is this typical? Her troubles seems to be limited to her digestive tract but again, we have no answers yet. We also have an apt. with a Ped Endo early next month.

Should I push for genetic testing? DD passed the newborn screening but after reading some threads here, I had absolutely no idea that they didn't test for all possible genes. We've truly been through a lot on our journey to find out what's going on with DD. I'd love some input or experiences to help me through this process. Thanks so much,

Jen

 

[oneloopy1]

Hi all,

My DD is 17 months old and has been dx'd with failure to thrive since she was just a few months old. She's currently 16 lbs and has never been on the growth charts to date. We have done the allergy testing, celiacs, genetic inborn errors of metabolism and no dx for anything yet. Now we are about to start with our first sweat test. I'm pretty scared and I've already learned a lot from reading some threads here. I'm just thankful that I finally found a great GI Dr. who is going to help us.

My DD has tremendous difficulty gaining weight even though she eats like a horse. Her stools smell very foul but they are not loose or fatty. Is this typical? Her troubles seems to be limited to her digestive tract but again, we have no answers yet. We also have an apt. with a Ped Endo early next month.

Should I push for genetic testing? DD passed the newborn screening but after reading some threads here, I had absolutely no idea that they didn't test for all possible genes. We've truly been through a lot on our journey to find out what's going on with DD. I'd love some input or experiences to help me through this process. Thanks so much,

Jen

 

[oneloopy1]

Hi all,

My DD is 17 months old and has been dx'd with failure to thrive since she was just a few months old. She's currently 16 lbs and has never been on the growth charts to date. We have done the allergy testing, celiacs, genetic inborn errors of metabolism and no dx for anything yet. Now we are about to start with our first sweat test. I'm pretty scared and I've already learned a lot from reading some threads here. I'm just thankful that I finally found a great GI Dr. who is going to help us.

My DD has tremendous difficulty gaining weight even though she eats like a horse. Her stools smell very foul but they are not loose or fatty. Is this typical? Her troubles seems to be limited to her digestive tract but again, we have no answers yet. We also have an apt. with a Ped Endo early next month.

Should I push for genetic testing? DD passed the newborn screening but after reading some threads here, I had absolutely no idea that they didn't test for all possible genes. We've truly been through a lot on our journey to find out what's going on with DD. I'd love some input or experiences to help me through this process. Thanks so much,

Jen

 

[oneloopy1]

Hi all,

My DD is 17 months old and has been dx'd with failure to thrive since she was just a few months old. She's currently 16 lbs and has never been on the growth charts to date. We have done the allergy testing, celiacs, genetic inborn errors of metabolism and no dx for anything yet. Now we are about to start with our first sweat test. I'm pretty scared and I've already learned a lot from reading some threads here. I'm just thankful that I finally found a great GI Dr. who is going to help us.

My DD has tremendous difficulty gaining weight even though she eats like a horse. Her stools smell very foul but they are not loose or fatty. Is this typical? Her troubles seems to be limited to her digestive tract but again, we have no answers yet. We also have an apt. with a Ped Endo early next month.

Should I push for genetic testing? DD passed the newborn screening but after reading some threads here, I had absolutely no idea that they didn't test for all possible genes. We've truly been through a lot on our journey to find out what's going on with DD. I'd love some input or experiences to help me through this process. Thanks so much,

Jen

 

[oneloopy1]

Hi all,

My DD is 17 months old and has been dx'd with failure to thrive since she was just a few months old. She's currently 16 lbs and has never been on the growth charts to date. We have done the allergy testing, celiacs, genetic inborn errors of metabolism and no dx for anything yet. Now we are about to start with our first sweat test. I'm pretty scared and I've already learned a lot from reading some threads here. I'm just thankful that I finally found a great GI Dr. who is going to help us.

My DD has tremendous difficulty gaining weight even though she eats like a horse. Her stools smell very foul but they are not loose or fatty. Is this typical? Her troubles seems to be limited to her digestive tract but again, we have no answers yet. We also have an apt. with a Ped Endo early next month.

Should I push for genetic testing? DD passed the newborn screening but after reading some threads here, I had absolutely no idea that they didn't test for all possible genes. We've truly been through a lot on our journey to find out what's going on with DD. I'd love some input or experiences to help me through this process. Thanks so much,

Jen

 

[ktsmom]

Hi Jen - before our daughter was diagnosed, she only had digestive issues. As far as recognizing weird stools, it took us awhile to recognize that it was grease in her stools showing up as orange staining towards the edges of her diaper. Our daughter ate all the time, yet fell off the growth charts from 95% to 20%.

They didn't have the newborn screening at the time she was born, but it is my understanding that it isn't a genetic testing at all, but rather a screen for high immunoreactive trypsinogen (IRT) in the blood. I could be wrong.

I think you are fortunate to have a doc that is willing to do more testing. A sweat test is a fine place to start. If it is positive, the genetic testing will be done anyway. If it is negative, I and many others on here will tell you that nothing but a full genetic test will rule CF out or in. Good luck to you and I hope you find some answers!

 

[ktsmom]

Hi Jen - before our daughter was diagnosed, she only had digestive issues. As far as recognizing weird stools, it took us awhile to recognize that it was grease in her stools showing up as orange staining towards the edges of her diaper. Our daughter ate all the time, yet fell off the growth charts from 95% to 20%.

They didn't have the newborn screening at the time she was born, but it is my understanding that it isn't a genetic testing at all, but rather a screen for high immunoreactive trypsinogen (IRT) in the blood. I could be wrong.

I think you are fortunate to have a doc that is willing to do more testing. A sweat test is a fine place to start. If it is positive, the genetic testing will be done anyway. If it is negative, I and many others on here will tell you that nothing but a full genetic test will rule CF out or in. Good luck to you and I hope you find some answers!

 

[ktsmom]

Hi Jen - before our daughter was diagnosed, she only had digestive issues. As far as recognizing weird stools, it took us awhile to recognize that it was grease in her stools showing up as orange staining towards the edges of her diaper. Our daughter ate all the time, yet fell off the growth charts from 95% to 20%.

They didn't have the newborn screening at the time she was born, but it is my understanding that it isn't a genetic testing at all, but rather a screen for high immunoreactive trypsinogen (IRT) in the blood. I could be wrong.

I think you are fortunate to have a doc that is willing to do more testing. A sweat test is a fine place to start. If it is positive, the genetic testing will be done anyway. If it is negative, I and many others on here will tell you that nothing but a full genetic test will rule CF out or in. Good luck to you and I hope you find some answers!

 

[ktsmom]

Hi Jen - before our daughter was diagnosed, she only had digestive issues. As far as recognizing weird stools, it took us awhile to recognize that it was grease in her stools showing up as orange staining towards the edges of her diaper. Our daughter ate all the time, yet fell off the growth charts from 95% to 20%.

They didn't have the newborn screening at the time she was born, but it is my understanding that it isn't a genetic testing at all, but rather a screen for high immunoreactive trypsinogen (IRT) in the blood. I could be wrong.

I think you are fortunate to have a doc that is willing to do more testing. A sweat test is a fine place to start. If it is positive, the genetic testing will be done anyway. If it is negative, I and many others on here will tell you that nothing but a full genetic test will rule CF out or in. Good luck to you and I hope you find some answers!

 

[ktsmom]

Hi Jen - before our daughter was diagnosed, she only had digestive issues. As far as recognizing weird stools, it took us awhile to recognize that it was grease in her stools showing up as orange staining towards the edges of her diaper. Our daughter ate all the time, yet fell off the growth charts from 95% to 20%.

They didn't have the newborn screening at the time she was born, but it is my understanding that it isn't a genetic testing at all, but rather a screen for high immunoreactive trypsinogen (IRT) in the blood. I could be wrong.

I think you are fortunate to have a doc that is willing to do more testing. A sweat test is a fine place to start. If it is positive, the genetic testing will be done anyway. If it is negative, I and many others on here will tell you that nothing but a full genetic test will rule CF out or in. Good luck to you and I hope you find some answers!

 

[NoExcuses]

So the full panel genetic test to push for (sweat tests are time consuming and pretty useless.... genetic tests are much more exact) is a Ambry full panel genetic test (tests for over 1300 mutations).

Typical CF tests are only for 34 genes which is ridiculous because they exclude over 1200 genes. Foolish, in my opinion.

So make sure you get the full panel genetic test ASAP. www.ambrygenetics.com

 

[NoExcuses]

So the full panel genetic test to push for (sweat tests are time consuming and pretty useless.... genetic tests are much more exact) is a Ambry full panel genetic test (tests for over 1300 mutations).

Typical CF tests are only for 34 genes which is ridiculous because they exclude over 1200 genes. Foolish, in my opinion.

So make sure you get the full panel genetic test ASAP. www.ambrygenetics.com

 

[NoExcuses]

So the full panel genetic test to push for (sweat tests are time consuming and pretty useless.... genetic tests are much more exact) is a Ambry full panel genetic test (tests for over 1300 mutations).

Typical CF tests are only for 34 genes which is ridiculous because they exclude over 1200 genes. Foolish, in my opinion.

So make sure you get the full panel genetic test ASAP. www.ambrygenetics.com

 

[NoExcuses]

So the full panel genetic test to push for (sweat tests are time consuming and pretty useless.... genetic tests are much more exact) is a Ambry full panel genetic test (tests for over 1300 mutations).

Typical CF tests are only for 34 genes which is ridiculous because they exclude over 1200 genes. Foolish, in my opinion.

So make sure you get the full panel genetic test ASAP. www.ambrygenetics.com

 

[NoExcuses]

So the full panel genetic test to push for (sweat tests are time consuming and pretty useless.... genetic tests are much more exact) is a Ambry full panel genetic test (tests for over 1300 mutations).

Typical CF tests are only for 34 genes which is ridiculous because they exclude over 1200 genes. Foolish, in my opinion.

So make sure you get the full panel genetic test ASAP. www.ambrygenetics.com

 

[ktsmom]

Because a sweat test measures the concentration of sodium and chloride in sweat, possibly determining the functional state of the CFTR gene, and <i><b>can</b></i> lead to a diagnosis of CF, I wouldn't call it useless.

The problem with the sweat test comes about because not all cases of CF will express themselves with a positive sweat test. In the case of a negative sweat test but continued unexplained clinical presentations of CF symptoms, full genetic screening would be strongly recommended by me and many others on this board.

Even trickier, though, and perhaps impossible for a new parent coming on the boards for the first time to try to understand, is that even genetic testing might fail to detect a previously unidentified mutation. There are people who have a diagnosis of CF, with "one unknown mutation".

All of that to say that it sounds to me like you are on the right track with your DD.

 

[ktsmom]

Because a sweat test measures the concentration of sodium and chloride in sweat, possibly determining the functional state of the CFTR gene, and <i><b>can</b></i> lead to a diagnosis of CF, I wouldn't call it useless.

The problem with the sweat test comes about because not all cases of CF will express themselves with a positive sweat test. In the case of a negative sweat test but continued unexplained clinical presentations of CF symptoms, full genetic screening would be strongly recommended by me and many others on this board.

Even trickier, though, and perhaps impossible for a new parent coming on the boards for the first time to try to understand, is that even genetic testing might fail to detect a previously unidentified mutation. There are people who have a diagnosis of CF, with "one unknown mutation".

All of that to say that it sounds to me like you are on the right track with your DD.

 

[ktsmom]

Because a sweat test measures the concentration of sodium and chloride in sweat, possibly determining the functional state of the CFTR gene, and <i><b>can</b></i> lead to a diagnosis of CF, I wouldn't call it useless.

The problem with the sweat test comes about because not all cases of CF will express themselves with a positive sweat test. In the case of a negative sweat test but continued unexplained clinical presentations of CF symptoms, full genetic screening would be strongly recommended by me and many others on this board.

Even trickier, though, and perhaps impossible for a new parent coming on the boards for the first time to try to understand, is that even genetic testing might fail to detect a previously unidentified mutation. There are people who have a diagnosis of CF, with "one unknown mutation".

All of that to say that it sounds to me like you are on the right track with your DD.

 

[ktsmom]

Because a sweat test measures the concentration of sodium and chloride in sweat, possibly determining the functional state of the CFTR gene, and <i><b>can</b></i> lead to a diagnosis of CF, I wouldn't call it useless.

The problem with the sweat test comes about because not all cases of CF will express themselves with a positive sweat test. In the case of a negative sweat test but continued unexplained clinical presentations of CF symptoms, full genetic screening would be strongly recommended by me and many others on this board.

Even trickier, though, and perhaps impossible for a new parent coming on the boards for the first time to try to understand, is that even genetic testing might fail to detect a previously unidentified mutation. There are people who have a diagnosis of CF, with "one unknown mutation".

All of that to say that it sounds to me like you are on the right track with your DD.

 

[ktsmom]

Because a sweat test measures the concentration of sodium and chloride in sweat, possibly determining the functional state of the CFTR gene, and <i><b>can</b></i> lead to a diagnosis of CF, I wouldn't call it useless.

The problem with the sweat test comes about because not all cases of CF will express themselves with a positive sweat test. In the case of a negative sweat test but continued unexplained clinical presentations of CF symptoms, full genetic screening would be strongly recommended by me and many others on this board.

Even trickier, though, and perhaps impossible for a new parent coming on the boards for the first time to try to understand, is that even genetic testing might fail to detect a previously unidentified mutation. There are people who have a diagnosis of CF, with "one unknown mutation".

All of that to say that it sounds to me like you are on the right track with your DD.