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Lakeshore
An author of no particular popularity

Jay Lake
Date: 2008-06-17 08:44
Subject: [cancer] Genetic test results
Security: Public
Tags:cancer, personal

With much relief, I have found out this morning that my genetic test results were clean, and I do not have Lynch Syndrome (HNPCC).

Life goes on now, with much rejoicing.

Originally published at jlake.com. You can comment here or there.

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Jon Hansen
User: jonhansen
Date: 2008-06-17 15:49 (UTC)
Subject: (no subject)
Glad to hear you're not being Lynched.
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John A Pitts
User: bravado111
Date: 2008-06-17 15:52 (UTC)
Subject: (no subject)
Congratulations.

One less thing on your mind.
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User: jess_ka
Date: 2008-06-17 15:54 (UTC)
Subject: (no subject)
Good news, Jay; glad to hear it!
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Jennifer Jackson
User: arcaedia
Date: 2008-06-17 15:59 (UTC)
Subject: (no subject)
Yay! So glad to hear that!
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User: n5red
Date: 2008-06-17 16:30 (UTC)
Subject: (no subject)
Hmmm, exactly how much alien DNA did they find? Obviously you have already been probed, when can we expect the metamorphesis to begin?
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Michael Curry: alton
User: mcurry
Date: 2008-06-17 16:35 (UTC)
Subject: (no subject)
Keyword:alton
Excellent news, and definitely a relief.
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User: ellameena
Date: 2008-06-17 16:56 (UTC)
Subject: (no subject)
I'm a bit puzzled why you're being screened for a condition that indicates your cancer risk, when you've already been diagnosed with colon cancer. The results of the test for Lynch Syndrome would not modify your lifetime risk of cancer, since a positive result indicates an 80% risk, and yours is already at 100%. And it doesn't seem like it would change your future monitoring schedule, since as a cancer patient you are going to be followed pretty closely. The wikipedia article indicates that screening is recommended for those who have two or more first degree relatives with cancer.

It's unfortunate that you were subjected to the anxiety of going through a test with little diagnostic relevance. Were they looking for prognostic indicators? If so, that would seem like a bad practice since it looks like the test has not been validated for prognostic, disease progression, or other endpoints.

So have you got your second opinion appointment set up with Fred Hutchinson?
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Jay Lake
User: jaylake
Date: 2008-06-17 17:20 (UTC)
Subject: (no subject)
Actually, the screening was to determine if the rest of my family needed to be screened. Plus there's a basket of other cancers associated with Lynch, which would have modified my long-term monitoring program somewhat.

And, erm, no, haven't phoned up the Hutch yet.
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User: ellameena
Date: 2008-06-17 18:14 (UTC)
Subject: (no subject)
My Mom has been seeing a "regular" hematologist for the past three years for her cancer. She did have a bone marrow transplant at Karmanos, which is a nearby cancer center. I had wanted to get her into the University of Michigan a while back, but couldn't make it happen. Now that she's moved in with me, we've transferred her care to the UM, and oh my, it makes a difference! Her treatment plan will probably not change, but she is now being seen in an institution with an active research program in her specific cancer. There's such a difference in the "little things" such as awareness of medication and procedure alternatives. Because they do tons of bone marrow biopsies, they were able to offer Mom a third option for anaesthesia that she's never been offered before. They have dealt with rare non-secreting myelomas before, and have some tricks up their sleeves for dealing with them. They also gave her the opportunity to donate some bone marrow samples to research. I really feel she is going to give you the best possible care.

So do make that appointment. Even if you end up with the same plan you started with, you won't regret it. And it's possible that after reviewing all your records and doing some tests, they may come up with an idea you never thought of, or find something the others missed.

Be well!
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Jay Lake
User: jaylake
Date: 2008-06-17 19:07 (UTC)
Subject: (no subject)
Point taken, and thank you. I need to look into going to the Hutch with my med reports in hand.

FWIW, OHSU (where I am being treated) is a major research center for colo-rectal cancer, and my specialist is the principal investigator on several of their studies. This has contributed to my confidence level.
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Jay Lake: cancer_tumor
User: jaylake
Date: 2008-06-20 12:10 (UTC)
Subject: (no subject)
Keyword:cancer_tumor
I'm a bit puzzled why you're being screened for a condition that indicates your cancer risk

Duh, I finally realized there was some missing info here.


After they did the pathology report on my tumor, I was presented with several pieces of data.


-- Very early age of onset for colon cancer (Lynch average is 44, I was 43, non-Lynch is about 62)
-- Some family history
-- Histological staining indicating a very weak MSH-1 gene function

On the Amsterdam Criteria (I believe), I was assessed as having an 8% chance of having Lynch. While you are right, the primary cancer associated with Lynch had already been diagnosed in me, it's also associated with about five or six other cancers, as well as potentially indicating a family genetic problem which could have affected my siblings, their children, etc.

Testing was not recommended for me, but genetic counseling was offered, for which testing was then a possible outcome. Given that the long term screening regimen for Lynch differs from the long term screening regimen for colon cancer survivors (endoscopy, urine tests, etc.); and the potential issues to my family, 8% seemed like a very high number to leave on the table without finding out.
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jackwilliambell
User: jackwilliambell
Date: 2008-06-17 17:32 (UTC)
Subject: (no subject)
Yah! Whoo hoo!
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Katrina
User: kmarier
Date: 2008-06-17 18:19 (UTC)
Subject: (no subject)
Yay! Yaaaaaaaaaayyyyy! *doing the happy dance for you* but please do not grow complacent and neglect regular checkups etc...We want you with us for many years to come!
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A large duck: bear headlock!
User: burger_eater
Date: 2008-06-17 19:13 (UTC)
Subject: (no subject)
Keyword:bear headlock!
Fantastic!
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Ruthanne Reid
User: ruthannereid
Date: 2008-06-17 20:32 (UTC)
Subject: (no subject)
YES!!! *throws celebration*
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threeoutside
User: threeoutside
Date: 2008-06-18 00:48 (UTC)
Subject: (no subject)
Hey, I know Dr. Lynch! I worked at Creighton for a year or so. He is the nicest guy. Brilliant, warm, caring person. Unusual for a research giant, in my experience.

I am SO unutterably glad to hear you passed that test, too, with flying colors. Namaste, friend.
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Twilight
User: twilight2000
Date: 2008-06-18 01:51 (UTC)
Subject: (no subject)
wOOt!!! This is a GOOD thing :>
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martyn44
User: martyn44
Date: 2008-06-18 09:44 (UTC)
Subject: (no subject)
Huzzah! Sailors worldwide throw their caps in the air.

Don't know why they did that, but hey . . .
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biomekanic
User: biomekanic
Date: 2008-06-18 19:03 (UTC)
Subject: (no subject)
That's good :)

Totally OT, on the off chance you weren't notified, Sci Fi is taking down their fiction site, saw that when I went there and read your story.
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Jay Lake
User: jaylake
Date: 2008-06-18 19:12 (UTC)
Subject: (no subject)
That's been due for a while, I guess they're finally pulling the trigger.

Sigh.
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