Lynch Syndrome

This is one of my favorite photos of Jason through his treatment. He looks so handsome.

It is hard to believe this photo was taken on March 20th, 2025. Just less than 5 months before he died. He looks so “healthy”.

Everything changed so quickly after this hopeful photo.

2 weeks prior his CT scan showed shrinkage. In which the doctor wrote “Great news! The cancer is shrinking! Congratulations!” On the scan report in the portal.

3 weeks later, new growth appeared in a new location on his CT.

Cancer is a brutal rollercoaster. One you don’t buy a ticket for.

But not all cancer is the same.

In a world that deems colon cancer as a slow growing cancer, Jason’s was anything but.

Jason’s cancer was different.

His cancer was in the 10% of all colorectal cancers.

Today, March 22nd, is Lynch Syndrome awareness day. Lynch Syndrome is an inherited genetic condition that causes mutations in DNA mismatch repair genes, increasing an individuals risk of colon cancer by up to 80%.

There are 5 specific mismatch repair genes that fall under into Lynch Syndrome.

I had never heard of Lynch Syndrome before Jason’s cancer diagnosis. Roughly 1 and 300 people have the mutation.

By the time we learned he had Lynch Syndrome, it was May of 2024, 3 months after a stage IIIC colon cancer diagnosis.

I remember sitting in the genetic specialists office after the results were in, her walking us through his family tree. She was shocked when he told her no one in his immediate family had been tested for the mutation.

Jason’s uncle was diagnosed with Colon Cancer in 2017. He was confirmed at that time with Lynch Syndrome. He shared this information with Jason’s father and his other siblings, all who never completed an accurate means of genetic testing.

Not one of them has yet ended up with cancer.

But Jason did.

Early genetic testing would’ve told Jason he carried the mutation, MLH-1. Recommended screening for Jason’s mutation is a yearly colonoscopy, starting at 20 years old.

With MLH-1 individuals are at higher risk of early onset cancer.

With MLH-1 the adenoma (polyp) phase is short or often absent. Why Lynch syndrome gets its other name, “Hereditary Non-Polyposis Colorectal Cancer".

With MLH-1 presents MSI-High DNA (microsatellite instability), which is most responsive to immunotherapy, which is NOT the first line of defense in sporadic colon cancer. Many immunotherapies, most of which are only 3 years out, are not MSI-High specific. MSI-High specific treatment only exists in clinical trials.

With MLH-1 the clinical behavior can be considered as “rapid progression possible”.

Jason was diagnosed with cancer at 36, 10 years before the average person with Lynch Syndrome, MLH-1, sees signs of cancer.

9 years earlier than the routine screening age of 45, for the general population.

16 years of colonoscopies, per Lynch Syndrome screening recommendations, that never happened.

16 years of screenings that could’ve saved his life.

But he didn’t know.

Knowledge is power.

Genetic testing is not out of reach.

Know your family history. We all deserve that.

Jason deserved that.

Not a day passes where the anger doesn’t boil inside me that no one ever told me that the person I love, the person I was marrying, may be subject to genetic cancer.

There isn’t a day I don’t think about what could’ve been if only we had known.

Early and yearly screening could’ve saved Jason’s life, but given the age of his diagnosis, the door to early and frequent screening would’ve only been possible with proper genetic testing and knowledge of his Lynch Syndrome.

My hope in sharing Jason’s story is it helps make a difference in someone else’s life.

I will scream it from the rooftops until the day I die, Genetic testing matters. No one is smarter than the professionals, the specialists. Genetic testing has come so far.

I will never forget the day Jason's oncologist told him he thought we should stop treatment and focus on quality of life, only 5 short days before Jason died. He said "Jason you did nothing wrong and this is not your fault." Sadly, in the world of evil cancer, Jason was simply dealt a really unfair and unlucky hand in this life.