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FAP - genetic and DNA screening

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irshandy
(@irshandy)
Joined: 3 years ago
Posts: 10
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: 11 years ago
Posts: 4376
 

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
(@irshandy)
Joined: 3 years ago
Posts: 10
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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irshandy
(@irshandy)
Joined: 3 years ago
Posts: 10
Topic starter  

this is definitely for the scientists among us. i am attaching the 2018 DNA test results for me along with the 2024 revised testing. strings tested in 2018 and not considered important have now changed to strings of interest.

way specialised but if of use or interesting to anyone you are more than welcome to view. 


   
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irshandy
(@irshandy)
Joined: 3 years ago
Posts: 10
Topic starter  

2024


   
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VeganOstomy
(@veganostomy)
Admin
Joined: 11 years ago
Posts: 4376
 

Really interesting, @irshandy. Thank you for sharing.

To clarify, did you have a single test done in 2018, and they updated the results with the latest data? Or did you have a separate test done this year?

 

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


   
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irshandy
(@irshandy)
Joined: 3 years ago
Posts: 10
Topic starter  

hi @veganostemy

in 2018 i had bloods done and that was the basis for those tests.

in 2024 new bloods were done, along with sputum. as some DNA is easier to test from saliva than blood.


   
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VeganOstomy
(@veganostomy)
Admin
Joined: 11 years ago
Posts: 4376
 

@irshandy Thanks for sharing. It's a pretty incredible advancement in technology, and I appreciate the fact that it's not very evasive, either.

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


   
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