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: