|Apr 30, 2009|
baby quinn's mommy
Mom to a 3 year old baby girl with severe reflux: g-tube, nissen fundoplication. dx: RAD, failure to thrive, DGE, epilepsy, sleep apnea, paraesohphogeal hernia, high lactic acid there's more "unknown disease"... Hospitalized 12 times, PT graduate! ST graduate! OT graduate! Current Meds: singulair, zopeonex, pulmicort, reglan, Keppra, Trileptal, vitamin B6, Veramyst. Current weight: 34 lb. Current height: 39". g-tube dependent, oxygen 1-2LpM all day and night PIC: Ms. Quinn
Misdiagnosis and Cystic FibrosisI didn't mean for that to rhyme, but that worked out well. lol
Quinn does NOT have CSID (an enzyme deficiency where she can't digest sucrose) Her biopsy results came back normal. however, she does still have persistent diarrhea and cannot gain weight without supplemental tube feedings, despite the amount she eats, and dehydration finds her very easily in every illness. She is about 3 1/2 years old and has had these issues since birth. This is her 3rd endoscopy with biopsies and now we are dealing with a misdiagnosis all along. But i think we are getting to the bottom of it all finally!
Quinn's small bowel fluid came back abnormal in the digestive enzymes. I can't remember what she said, but know the doctor now wants to test her stool for elastase and he wants a blood test for immunoreactive Trypsinogen (this is a newborn screen to test for cystic fibrosis) she has had the sweat test before which came out normal. The test can also indicate pancreatic insufficiency and pancreatic cancer.
So, I know all this stuff is super funky and it's unlikey that anybody has had to go this far in testing to figure out what is really going on, but if there is anybody out there who might be or has gone through this kind of stuff with their kiddo, i would be so appreciated to hear what happened... their story i guess. Thank you!
|Apr 30, 2009|
Kathryn, Pager Volunteer and mommy to Emily Mia 02/04/07. 3 years old with GERD. 30mg Prevacid and Pepcid AC. Mylanta needed for flares. Failed prilosec med switch. Tried and failed many med weans but GERD and pain are well controlled. Functional constipation. Reoccurring SBBO. Suspected IBD or autoimmune disease. Resolved issues: MSPI, CSID (acquired), Stage 2 kidney reflux, Chronic diarrhea.
Audrey Meadow 06/20/08. born 34/35 weeks. Still b/f and eats everything! ftt and chronic constipation.
|oh wow! that's good about the CSID stuff! there's a mom on p-2-p that has a dd who deals with pancreatic insufficiency, she also has CSID. |
i'm glad you are finally getting somewhere with all this testing and stuff Q has gone through! it's "funny" when the GI and I were discussing Emily, before audrey's biopsy, he suggested we get emily (and audrey) tested for CF b/c of the mucus in loose bulky smelly stools and re-occurring chest infections. but, i kinda don't think she has it b/c she gains weight fine and is not congested or junky all the time. Let me know how everything goes!