Negative Sweat Tests but PI and Recurrent Pneumonia????

[Edna]

Hey everybody. I need some advice. I have 3 children. My oldest is seemingly fine, but that's not the case with my younger two.

Leila is 4 and was diagnosed Pancreatic Insuffiency at age 2. She has had 3 negative sweat tests, and the common genetic screening has come back negative. She gains weight relatively well. She looks pale most of the time, and has had 3 bouts of pneumonia in the last year. She has also had some bleeding in her stool and will be having a repeat endoscopy and a colonscopy on Monday.

Jonathan is 21mos. and has had more difficult problems than Leila. He had failure to thrive and weight loss as an infant. Started enzymes at 7mos and that has helped a lot. He also has been diagnosed with Pancreatic Insuffiency and had 2 negative sweat tests and negative genetic screening. He has had documented early pneumonia 5 times in the last year. He has had all kind of reactions to antibiotics, but has had a normal allergy screening.

Are there any of you who have had repeated negative sweat tests?? The doctors seem to think that the sweat test is the Gold standard, and if it is neg. there is no way the kid has cf. I just can't believe that!! How do I get the doctors to order the more extensive genetic screening like Ambry's??

Any advice would be appreciated.

Thanks,
Edna

Mom to: Sarah, 7
Leila, 4 ?cf
Jonathan 21mos ?cf

 

[Edna]

Hey everybody. I need some advice. I have 3 children. My oldest is seemingly fine, but that's not the case with my younger two.

Leila is 4 and was diagnosed Pancreatic Insuffiency at age 2. She has had 3 negative sweat tests, and the common genetic screening has come back negative. She gains weight relatively well. She looks pale most of the time, and has had 3 bouts of pneumonia in the last year. She has also had some bleeding in her stool and will be having a repeat endoscopy and a colonscopy on Monday.

Jonathan is 21mos. and has had more difficult problems than Leila. He had failure to thrive and weight loss as an infant. Started enzymes at 7mos and that has helped a lot. He also has been diagnosed with Pancreatic Insuffiency and had 2 negative sweat tests and negative genetic screening. He has had documented early pneumonia 5 times in the last year. He has had all kind of reactions to antibiotics, but has had a normal allergy screening.

Are there any of you who have had repeated negative sweat tests?? The doctors seem to think that the sweat test is the Gold standard, and if it is neg. there is no way the kid has cf. I just can't believe that!! How do I get the doctors to order the more extensive genetic screening like Ambry's??

Any advice would be appreciated.

Thanks,
Edna

Mom to: Sarah, 7
Leila, 4 ?cf
Jonathan 21mos ?cf

 

[Edna]

Hey everybody. I need some advice. I have 3 children. My oldest is seemingly fine, but that's not the case with my younger two.

Leila is 4 and was diagnosed Pancreatic Insuffiency at age 2. She has had 3 negative sweat tests, and the common genetic screening has come back negative. She gains weight relatively well. She looks pale most of the time, and has had 3 bouts of pneumonia in the last year. She has also had some bleeding in her stool and will be having a repeat endoscopy and a colonscopy on Monday.

Jonathan is 21mos. and has had more difficult problems than Leila. He had failure to thrive and weight loss as an infant. Started enzymes at 7mos and that has helped a lot. He also has been diagnosed with Pancreatic Insuffiency and had 2 negative sweat tests and negative genetic screening. He has had documented early pneumonia 5 times in the last year. He has had all kind of reactions to antibiotics, but has had a normal allergy screening.

Are there any of you who have had repeated negative sweat tests?? The doctors seem to think that the sweat test is the Gold standard, and if it is neg. there is no way the kid has cf. I just can't believe that!! How do I get the doctors to order the more extensive genetic screening like Ambry's??

Any advice would be appreciated.

Thanks,
Edna

Mom to: Sarah, 7
Leila, 4 ?cf
Jonathan 21mos ?cf

 

[julie]

Hey Edna, the sweat test is the "standard" but by far not the ONLY choice. Check out Alyssa's blog about her kids being diagnosed: <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm?forumid=20">http://blogs.cysticfibrosis.com/index.cfm?forumid=20</a> I believe it's the third entry down on the page.

Also, Liza's son had negative sweat test(s???) and was later diagnosed by genetic test.

What kind of doc. are you seeing for the testing? Is it a CF center? If so, I can't imagine them putting up a fight for genetic testing. YOu might need to see another doctor if this one won't request the Ambry test.

 

[julie]

Hey Edna, the sweat test is the "standard" but by far not the ONLY choice. Check out Alyssa's blog about her kids being diagnosed: <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm?forumid=20">http://blogs.cysticfibrosis.com/index.cfm?forumid=20</a> I believe it's the third entry down on the page.

Also, Liza's son had negative sweat test(s???) and was later diagnosed by genetic test.

What kind of doc. are you seeing for the testing? Is it a CF center? If so, I can't imagine them putting up a fight for genetic testing. YOu might need to see another doctor if this one won't request the Ambry test.

 

[julie]

Hey Edna, the sweat test is the "standard" but by far not the ONLY choice. Check out Alyssa's blog about her kids being diagnosed: <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm?forumid=20">http://blogs.cysticfibrosis.com/index.cfm?forumid=20</a> I believe it's the third entry down on the page.

Also, Liza's son had negative sweat test(s???) and was later diagnosed by genetic test.

What kind of doc. are you seeing for the testing? Is it a CF center? If so, I can't imagine them putting up a fight for genetic testing. YOu might need to see another doctor if this one won't request the Ambry test.