A Typical CF

[heatherrose415]

I have been here before, quite a while ago, going through the testing process for CF. My sons sweat tests were 41 and 31. They did the full ambry genetics test and found nothing except he is 7T/7T poly T Variant.

He has no lung issues, just pancreatic insufficient. He is still having a VERY hard time gaining weight, he is still off the charts despite the enzymes and tagamet for stomache acid.

They upped his enzymes to the maximum amount he can have for his weight.

His GI Dr. at Stanford CHildrens Hospital said that "A Typical Cystic Fibrosis diagnosis is in their back pockets"

Has anyone been diagnosed before without finding any known mutations??

He is 2 1/2 and has been "sick" since he was born.

They are also going to test him for Shwackman diamond syndrome.

 

[heatherrose415]

I have been here before, quite a while ago, going through the testing process for CF. My sons sweat tests were 41 and 31. They did the full ambry genetics test and found nothing except he is 7T/7T poly T Variant.

He has no lung issues, just pancreatic insufficient. He is still having a VERY hard time gaining weight, he is still off the charts despite the enzymes and tagamet for stomache acid.

They upped his enzymes to the maximum amount he can have for his weight.

His GI Dr. at Stanford CHildrens Hospital said that "A Typical Cystic Fibrosis diagnosis is in their back pockets"

Has anyone been diagnosed before without finding any known mutations??

He is 2 1/2 and has been "sick" since he was born.

They are also going to test him for Shwackman diamond syndrome.

 

[heatherrose415]

I have been here before, quite a while ago, going through the testing process for CF. My sons sweat tests were 41 and 31. They did the full ambry genetics test and found nothing except he is 7T/7T poly T Variant.

He has no lung issues, just pancreatic insufficient. He is still having a VERY hard time gaining weight, he is still off the charts despite the enzymes and tagamet for stomache acid.

They upped his enzymes to the maximum amount he can have for his weight.

His GI Dr. at Stanford CHildrens Hospital said that "A Typical Cystic Fibrosis diagnosis is in their back pockets"

Has anyone been diagnosed before without finding any known mutations??

He is 2 1/2 and has been "sick" since he was born.

They are also going to test him for Shwackman diamond syndrome.

 

[heatherrose415]

I have been here before, quite a while ago, going through the testing process for CF. My sons sweat tests were 41 and 31. They did the full ambry genetics test and found nothing except he is 7T/7T poly T Variant.

He has no lung issues, just pancreatic insufficient. He is still having a VERY hard time gaining weight, he is still off the charts despite the enzymes and tagamet for stomache acid.

They upped his enzymes to the maximum amount he can have for his weight.

His GI Dr. at Stanford CHildrens Hospital said that "A Typical Cystic Fibrosis diagnosis is in their back pockets"

Has anyone been diagnosed before without finding any known mutations??

He is 2 1/2 and has been "sick" since he was born.

They are also going to test him for Shwackman diamond syndrome.

 

[heatherrose415]

I have been here before, quite a while ago, going through the testing process for CF. My sons sweat tests were 41 and 31. They did the full ambry genetics test and found nothing except he is 7T/7T poly T Variant.
<br />
<br />He has no lung issues, just pancreatic insufficient. He is still having a VERY hard time gaining weight, he is still off the charts despite the enzymes and tagamet for stomache acid.
<br />
<br />They upped his enzymes to the maximum amount he can have for his weight.
<br />
<br />His GI Dr. at Stanford CHildrens Hospital said that "A Typical Cystic Fibrosis diagnosis is in their back pockets"
<br />
<br />Has anyone been diagnosed before without finding any known mutations??
<br />
<br />He is 2 1/2 and has been "sick" since he was born.
<br />
<br />They are also going to test him for Shwackman diamond syndrome.

 

[peanut07]

My son was diagnosed with no mutations found,(full testing performed) however he did have a positive sweat test, 72.

He has no symptoms/involvment, lung or digestive. We go to the CF clinic quarterly for a check up and then we go on our way. He is on no medication or treatments at this time.

I hope you are able to get some answers and find something to help him gain weight.

 

[peanut07]

My son was diagnosed with no mutations found,(full testing performed) however he did have a positive sweat test, 72.

He has no symptoms/involvment, lung or digestive. We go to the CF clinic quarterly for a check up and then we go on our way. He is on no medication or treatments at this time.

I hope you are able to get some answers and find something to help him gain weight.

 

[peanut07]

My son was diagnosed with no mutations found,(full testing performed) however he did have a positive sweat test, 72.

He has no symptoms/involvment, lung or digestive. We go to the CF clinic quarterly for a check up and then we go on our way. He is on no medication or treatments at this time.

I hope you are able to get some answers and find something to help him gain weight.

 

[peanut07]

My son was diagnosed with no mutations found,(full testing performed) however he did have a positive sweat test, 72.

He has no symptoms/involvment, lung or digestive. We go to the CF clinic quarterly for a check up and then we go on our way. He is on no medication or treatments at this time.

I hope you are able to get some answers and find something to help him gain weight.

 

[peanut07]

My son was diagnosed with no mutations found,(full testing performed) however he did have a positive sweat test, 72.
<br />
<br />He has no symptoms/involvment, lung or digestive. We go to the CF clinic quarterly for a check up and then we go on our way. He is on no medication or treatments at this time.
<br />
<br />I hope you are able to get some answers and find something to help him gain weight.

 

[Mommafirst]

HEATHER!!! I can't believe you are back, I really had hoped that Kaiden was on the mend since you hadn't been on in some time.

I'm so sad to hear that he is still pancreatic insufficient and that they can't find a solution.

I have heard of a small handful of people who have been diagnosed with no mutations found, I think. I think its good that they are checking for SDS too. Does he have any bruising issues?? I think that SDS has a bleeding disorder component.

(((HUGS))) I'm sure you are just beside yourself waiting for an answer already!!!

Heather

 

[Mommafirst]

HEATHER!!! I can't believe you are back, I really had hoped that Kaiden was on the mend since you hadn't been on in some time.

I'm so sad to hear that he is still pancreatic insufficient and that they can't find a solution.

I have heard of a small handful of people who have been diagnosed with no mutations found, I think. I think its good that they are checking for SDS too. Does he have any bruising issues?? I think that SDS has a bleeding disorder component.

(((HUGS))) I'm sure you are just beside yourself waiting for an answer already!!!

Heather

 

[Mommafirst]

HEATHER!!! I can't believe you are back, I really had hoped that Kaiden was on the mend since you hadn't been on in some time.

I'm so sad to hear that he is still pancreatic insufficient and that they can't find a solution.

I have heard of a small handful of people who have been diagnosed with no mutations found, I think. I think its good that they are checking for SDS too. Does he have any bruising issues?? I think that SDS has a bleeding disorder component.

(((HUGS))) I'm sure you are just beside yourself waiting for an answer already!!!

Heather

 

[Mommafirst]

HEATHER!!! I can't believe you are back, I really had hoped that Kaiden was on the mend since you hadn't been on in some time.

I'm so sad to hear that he is still pancreatic insufficient and that they can't find a solution.

I have heard of a small handful of people who have been diagnosed with no mutations found, I think. I think its good that they are checking for SDS too. Does he have any bruising issues?? I think that SDS has a bleeding disorder component.

(((HUGS))) I'm sure you are just beside yourself waiting for an answer already!!!

Heather

 

[Mommafirst]

HEATHER!!! I can't believe you are back, I really had hoped that Kaiden was on the mend since you hadn't been on in some time.
<br />
<br />I'm so sad to hear that he is still pancreatic insufficient and that they can't find a solution.
<br />
<br />I have heard of a small handful of people who have been diagnosed with no mutations found, I think. I think its good that they are checking for SDS too. Does he have any bruising issues?? I think that SDS has a bleeding disorder component.
<br />
<br />(((HUGS))) I'm sure you are just beside yourself waiting for an answer already!!!
<br />
<br />Heather

 

[heatherrose415]

Thanks guys!!

and yes Heather, I am back, LOL!!

I am so frustrated, beyond frustrated <img src="i/expressions/face-icon-small-sad.gif" border="0">. I just want an answer. I accepted not having an answer, but they are concerned with his growth, so wanted to do the SDS test, and also mentioned that CF was in their back pockets, and now I am right back to stressing out and wanting an answer NOW!!!!!

He does not bruise all the time, he does bruise, but hes a boy, lol. I dont think he has SDS, as he doesnt have alot of what they describe with SDS, he has the pancreatic problem and short stature. but thats it that I know of.

 

[heatherrose415]

Thanks guys!!

and yes Heather, I am back, LOL!!

I am so frustrated, beyond frustrated <img src="i/expressions/face-icon-small-sad.gif" border="0">. I just want an answer. I accepted not having an answer, but they are concerned with his growth, so wanted to do the SDS test, and also mentioned that CF was in their back pockets, and now I am right back to stressing out and wanting an answer NOW!!!!!

He does not bruise all the time, he does bruise, but hes a boy, lol. I dont think he has SDS, as he doesnt have alot of what they describe with SDS, he has the pancreatic problem and short stature. but thats it that I know of.

 

[heatherrose415]

Thanks guys!!

and yes Heather, I am back, LOL!!

I am so frustrated, beyond frustrated <img src="i/expressions/face-icon-small-sad.gif" border="0">. I just want an answer. I accepted not having an answer, but they are concerned with his growth, so wanted to do the SDS test, and also mentioned that CF was in their back pockets, and now I am right back to stressing out and wanting an answer NOW!!!!!

He does not bruise all the time, he does bruise, but hes a boy, lol. I dont think he has SDS, as he doesnt have alot of what they describe with SDS, he has the pancreatic problem and short stature. but thats it that I know of.

 

[heatherrose415]

Thanks guys!!

and yes Heather, I am back, LOL!!

I am so frustrated, beyond frustrated <img src="i/expressions/face-icon-small-sad.gif" border="0">. I just want an answer. I accepted not having an answer, but they are concerned with his growth, so wanted to do the SDS test, and also mentioned that CF was in their back pockets, and now I am right back to stressing out and wanting an answer NOW!!!!!

He does not bruise all the time, he does bruise, but hes a boy, lol. I dont think he has SDS, as he doesnt have alot of what they describe with SDS, he has the pancreatic problem and short stature. but thats it that I know of.

 

[heatherrose415]

Thanks guys!!
<br />
<br />and yes Heather, I am back, LOL!!
<br />
<br />I am so frustrated, beyond frustrated <img src="i/expressions/face-icon-small-sad.gif" border="0">. I just want an answer. I accepted not having an answer, but they are concerned with his growth, so wanted to do the SDS test, and also mentioned that CF was in their back pockets, and now I am right back to stressing out and wanting an answer NOW!!!!!
<br />
<br />He does not bruise all the time, he does bruise, but hes a boy, lol. I dont think he has SDS, as he doesnt have alot of what they describe with SDS, he has the pancreatic problem and short stature. but thats it that I know of.