For almost a year now, I’ve been living with the knowledge that I probably have Lynch Syndrome.

Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that is associated with a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair. It is a type of cancer syndrome.

Wikipedia – https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer

As part of the pathology done on the tumor I had, it was discovered that the tumor was “missing a protein”. Missing was the protein that should have been encoded with the MLH1 gene. The MLH1 protein is part of your DNA repair system, and without it, many cancers are much more likely, especially after the age of 40.

All the next steps were optional, depending on how much I wanted to know. I was referred to a genetic counsellor and had a telephone consult (due to my remote location). As part of the process, I had to prepare a family tree, of my siblings, parents, aunts and uncles, and grandparents, and show the cancers.

But there just isn’t any. My grandfather died of leukemia, but otherwise, I have dozens of aunts and uncles and cousins and nope, unless they were secretive, all are alive and well and cancer free.

This was a little unusual for the researchers, because people with Lynch Syndrome usually have a family full of colon cancer patients.

I had agreed at the time of my surgery, to have all of my tumor tissue saved in a tissue bank in Vancouver, for further study, if needed. Because of this, I was able to have tumor tissue sent to a specialty lab in California, along with a blood sample for further analysis.

Knowing that a Lynch Syndrome diagnosis meant that I had a life ahead of me of constant monitoring, colonoscopies, and likely many more cancer battles, I was almost more concerned what this would mean for my family. If I was diagnosed with Lynch Syndrome, it meant my sister and brother were also at great risk, and also likely my parents would need immediate colon cancer screening, and what would it mean for my niece and nephew?

Yesterday I had a call in the afternoon with the same genetics counsellor I talked with previously. She had another counsellor also with her, on speakerphone. Oh boy, here we go.

I was almost confused when she said she thought she had good news for me. The tumor tissue showed it had 2 changes in the MLH1 gene, however, my blood did not. This meant that the cancer I had was not genetic. It was not inherited. It was sporadic.

I do not have Lynch Syndrome.

I’m not looking at a summer full of cancer screenings. I don’t need a colonoscopy (well until after age 50). I’m not looking at a future with back to back cancer battles.

Other than the regular monitoring to make sure the endometrial cancer I had doesn’t reoccur, I’m a regular person now!

I almost didn’t know how to react. I had prepared myself for the worst. It is a big relief that I almost haven’t wrapped my brain around yet. Being able to tell my family they were also not at risk was great!

All I want to do is celebrate. Maybe float around in the hot tub with a daiquiri. Maybe a sprint down the road hooting and hollering. Maybe a cart wheel. Waaaaahoooooooooooooo!!!

Not sure if have any recent photos to share that capture my current mood, but here are a few anyway:

How Hank shares my recliner
How Hank passed the day (he begs every morning to go out to his kennel now)
My wild hair that does whatever it wants, and usually stands on end
It is nice to have hair again
Got the 50 foot flower garden in front of the house planted this year!

Lisa

Lisa (Verkley) Schuyler is a blogger reporting live from her new home in Canada's Yukon Territory. Often found wearing a hoodie, covered in pet hair, Lisa is a mis-placed forester who now spends her days engineering happiness for WordPress users. Lisa loves nature, animals, and most importantly, her handsome husband Jeff.

15 Replies to “Future forecast: Sunny

  1. Oh, Lisa, that’s SUCH excellent news! Do EVERYTHING you want to do to celebrate! (But I want vidéo if you choose to do cartwheels down the street.) 😊😊😊

  2. Oh my dear girl this is wonderful news for all. I would do a cart wheel with you if I could do one. Enjoy your summer, enjoy life. So glad you got to come home to see all your family. Bless you and keep you safe.
    Marvin and Connie Gibbings

  3. Of course had NO idea you were going thru all this!!! So so glad everything is fine. You and Jeff so deserve good news. Love you. Go out & enjoy life!!

  4. So happy to hear you do not have Lynch Syndrome, Lisa! I am going through surgery and treatments for colorectal cancer and am awaiting genetic testing. I hope in a few months to be where you are 😊
    Thanks for sharing your experience!!

    1. Best wishes as you go through treatment! The genetic testing process for me took almost a year so try to put it in the back of your head for awhile, if you can! I just followed your blog 🙂

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