Munkeesmama
New member
I kinda figured I should push for testing. I just didn't want to seem crazy and alone in my thinking when I go back to her doc and tell them i'm not satisfied. I called a cf accredited place today and think I want to have her sweat test re-done through them, as well as called ambry for the full genetic testing kit.
Her Diagnosis and symptoms so far:
VERY foul smelling poops, off and on chronic diarrhea/loose stools (sometimes orange and floaty)
Was eating over 2,000 cals and did not gain any weight (although did gain height)
Failure to thrive
Reflux
Malabsorption (but doc doesn't see a need for enzymes since her fecal elastace was in the normal rage).
Get sicks alot, alot of "colds", tons of mucous, gets sick quick and lingers forever. Needs breathing treatments to bring her o2 sats up and to function while sick.
She's 2 1/2 and has had pnuemonia 3 times, and has been diagnosed as having lung damage (could be caused by prematurity though)
Delayed gastric emptying.
She's had tons and tons of tests donek, an odd lab here or there, but nothing substantial which would lead the docs to a diagnosis, allergies, celiac, chron's, they've all been ruled out. It seems like CF or mitochondrial disease are the last two avenues to pursue. It's just frustrating. While I hope she doesn't have CF, the unknown seems a bit scarier at this point.
Her Diagnosis and symptoms so far:
VERY foul smelling poops, off and on chronic diarrhea/loose stools (sometimes orange and floaty)
Was eating over 2,000 cals and did not gain any weight (although did gain height)
Failure to thrive
Reflux
Malabsorption (but doc doesn't see a need for enzymes since her fecal elastace was in the normal rage).
Get sicks alot, alot of "colds", tons of mucous, gets sick quick and lingers forever. Needs breathing treatments to bring her o2 sats up and to function while sick.
She's 2 1/2 and has had pnuemonia 3 times, and has been diagnosed as having lung damage (could be caused by prematurity though)
Delayed gastric emptying.
She's had tons and tons of tests donek, an odd lab here or there, but nothing substantial which would lead the docs to a diagnosis, allergies, celiac, chron's, they've all been ruled out. It seems like CF or mitochondrial disease are the last two avenues to pursue. It's just frustrating. While I hope she doesn't have CF, the unknown seems a bit scarier at this point.