I have had abnormal manometry, abnormal sitz test (markers spread throughout) , normal-inconclusive appearing barium enema, normal colonoscopy.
I would like a full thickness biopsy to screen for hirschsprungs, but the doctors I am seeing won't test yet because of the normal tests. I tried to explain that from the information I have, a biopsy is the only conclusive test for HD.
Maybe genetic testing would be the way to go. Is there a facility out there that could do that? In addition, any specialists and or surgeons out there in adult hirschsprungs disease? Anyone?
Thank you for your comments.