Discussions By Condition: I cannot get a diagnosis.

possible hirschsprungs; need genetic tests

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: Pauletteaz2
  • August 24, 2007
  • 03:56 AM

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.

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3 Replies:

  • I have had trouble with my GI track my whole life in and out of hospitals ever since I was very small with my mother being a nurse and had to get all those tests all normal...I saw several GI doctors as did all three of my kids as babies because they could no poop on there own. My son was so bad by the time he was 18 months old he couldn't keep any food or water in his stomach...it still took over a year to diagnosis him with Celiac Spruce which is genetic and runs in families. I gave it to him and all my kids... get a blood test from your GI doctor to test for it and make sure it goes to a reputable lab. I also might suggest getting some tests done from imuno labs they test for a lot of other foods that might be bothering you...good luck and I want you to know that my diagnosis changed my life after 30 years of suffering.
    Anonymous 42789 Replies
    • September 1, 2007
    • 09:06 PM
    • 0
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  • Yes, I have already been tested for food allergies, many years ago. I was found to be allergic to wheat and cow's milk products among a few other less serious ones. I do not eat wheat products. Removing the foods I am allergic to was an important step in keeping my health in check. However, it did not effect my constipation.
    Pauletteaz2 9 Replies
    • September 2, 2007
    • 05:29 AM
    • 0
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  • Get in touch with Mr Alex Auldist At the Royal Childrens Hospital in Melbourne, Victoria, Australia. He is the foremost surgeon in the world on Hirschsprung's disease and if he wont operate on an adult he could at the very least put you in the right direction.
    Anonymous 42789 Replies Flag this Response
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