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I've posted this on healingwell but was thinking maybe some members here would have more experience with this. My daughter was diagnosed with UC four years ago and we've sought to avoid surgery due to the fear that it would turn out to be crohn's (This happens more frequently in children than in adults, who, I think have a 10% chance of CD post colectomy).
I was wondering if any of you had had any genetic testing done and if it indicated UC or CD. Did your GI have anything to say about this?
We've just had the 23andme test which mapped her genome and it came up with a "biggie" for CD. I'm wondering if this seals the deal and might change her diagnosis. SHe's recently had scopes and they look like classic UC but again children with Crohn's colitis tend to present as UC more than adults. It's been four years and surgery looms. Any thoughts?

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Wow, the world of diagnostics is definitely changing!

But, no, I've never had any genetic or antibody tests for IBD. Not sure how it would have changed things for me either. I wasn't a pediatric patient when first diagnosed, but was young, 15.

The one concern I have with the notion of a CD "biggie" in reference to a genetic marker, is how they determine what is a big deal and what is not. They have identified over 200 gene locations associated with Crohn's, and have not unraveled the signifigance of them, at least not yet. I imagine with time, they will.
http://www.ucl.ac.uk/news/news...d-for-Crohns-Disease
I have a feeling that the more they discover, the more they realize how infinitely complex it is. While they may not come up with a cure, I think it will help doctors determine which treatments are appropriate for which subtypes of IBD. It would be nice not to have to try every drug on the shelf when only a few would be effective.

Our health plan, Kaiser, has embarked upon a huge genome project, collecting samples from patients for genetic testing and correlating with our medical records. It will be interesting to see what comes of it.

Jan Smiler
Jan Dollar
Thanks Jan,
Her GI is at the forefront of genetics and IBD research. I emailed the results to her yesterday (we did them privately, and for a reason unrelated to IBD really so I was quite shocked). She responded with great interest but did say that they've recently published a paper about the fact that UC and CD share many more genes than expected and that this supports their theory of a continuum of diseases/intestinal inflammation rather than two distinct disease. She hasn't written back since I sent her more detailed information but I'll update in case anyone else is interested. She also said many "healthy" people carry these genes but what are the chances that and IBDer has them but has the "other" IBD. She did have some UC related ones too but this was a biggie.
A NOD2 variant came up.
As for diagnostics, I think this test is worth a shot for those in a similar position to us (trying to clarify diagnosis). It was very expensive in the past but is not $99 per person.
I know they're going to find that these disease are very complex etc but I don't know what this means for my kid on the edge of surgery. I don't think her Dr knows either. This definitely adds to my anxiety but better to know more now than later I guess.
K

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