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FAP - genetic and DNA screening

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(@irshandy)
Joined: 2 years ago
Posts: 6
Topic starter  

hi folks

i know this wont appeal to many. its fairly specialised. i lost my bowel in 2017. at the time my colonic polyps were >500, they stopped counting. 
i was diagnosed with FAP and it was assumed that gene APC was responsible for the growths. however 2018 testing only showed a variance in APC of unknown significance, not what they expected to see at all.
now i have had further screening in ireland ( st vincents, rory kinnelly), watched by St Marks in London, Toronto General and CeGat genetics. these, in a sputum test, showed exactly the markers they expected to see.
i forget the term but it now happens that i have (had??) a form of FAP never seen before and totally unexpected.
next step is have my sons 19+23 do blood and sputum tests, as well as scopes. they are now looking at exactly the gene that 'misbehaved' for me.
results are going to be very interesting, happy to keep this updated if anyone wants me to.

 

andrew


   
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VeganOstomy
(@veganostomy)
Admin
Joined: 10 years ago
Posts: 4176
 

Fascinating stuff, Andrew.

Yes, please keep us updated, as I'd be curious to see what the tests show.

I've never done a DNA test where I could see my results, but I do believe I "donated" my DNA to IBD research at some point. ? 

Just your friendly neighborhood ostomate.
~ Crohn's Disease ¦ Ileostomy ~


   
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(@irshandy)
Joined: 2 years ago
Posts: 6
Topic starter  

will do @veganostomy, when i get more info i'll post. too late for all of us of course, but if anything about leads to earlier diagnosis, i'm in.


   
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