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A NOTE ON THIS STORY
This is a real person’s real story, shared publicly through the Amyloidosis Foundation’s patient stories program. We have changed his name and some identifying details to protect his privacy, but the events, the timeline, and the quotes below are his own words, drawn from what he chose to share.
Marcus noticed the bump on his leg in the summer of 2021. It was small, on the back of his thigh, and it did not hurt. He almost let it go. Instead, he brought it up at his annual physical, and that decision turned out to matter more than anyone in the room realized at the time.
His doctor was not alarmed at first. An ultrasound came back reading it as likely a carbuncle, a kind of infected skin lump. Marcus knew that was not right. “I did not have an infected hair follicle,” he said, and he asked for the test to be redone. Four weeks later, a second ultrasound told a very different story: two unexplained masses, with a vein running through them that nobody could fully account for.
Waiting was not an option
Even then, the first instinct from his care team was to wait and watch. A general surgeon suggested giving it time. Marcus said no. The bump had already grown since testing began, and he wanted it out. Because of pandemic-era scheduling backlogs, he waited three months for surgery.
When it finally happened in March 2022, doctors removed two masses, one just over five centimeters and one just under four, and sent them to pathology.
Two weeks later, the surgeon called Marcus himself. “The first thing he said was that he was sorry, and that the masses were cancer,” Marcus remembered. The diagnosis was Malignant Peripheral Nerve Sheath Tumor, a rare soft tissue sarcoma so uncommon that Marcus later learned most doctors never see a single case in their entire career. It was serious. Left unchecked, this type of cancer can spread to the lungs.
Marcus was quickly referred to a specialized sarcoma treatment center, where a surgical team scheduled a second, more extensive surgery within the week to remove any remaining cancerous tissue with clear margins. Afterward came six weeks of daily radiation, then a long stretch of monitoring: a chest CT and an MRI of the surgical site every six months, checking for any sign the cancer had come back.
A shadow on a routine scan
It was during one of those routine follow-up chest CTs that something else showed up. Not a cancer recurrence, which was the relief. Instead, the scan revealed an aortic aneurysm, a bulge in the wall of the body’s largest artery. Marcus’s sarcoma surgeon told him plainly: go see a cardiologist right away.
The cardiologist had news of his own. The aneurysm itself was not the biggest concern. Marcus’s aortic valve, it turned out, had been misshapen since birth, and it had grown severely narrowed, a condition called aortic stenosis. He needed open heart surgery to replace the valve. That surgery happened in October 2024.
When the old, removed valve went to pathology and then on to a specialized lab at the University of Washington for further testing, one more answer emerged. A Congo red stain, a specific test used to detect amyloid protein, came back positive. Genetic testing followed, and it ruled out the inherited form of the disease. What Marcus had was wild-type ATTR-CM, transthyretin amyloid cardiomyopathy that develops later in life without a family genetic link.
Putting the pieces back together
Marcus started tafamidis, a medication designed to slow the disease, in January 2025. He has scheduled a carpal tunnel surgery and a laminectomy for his spine in the months that follow, both common companions to ATTR-CM, since the same misfolded protein that settles in the heart often shows up first in the wrists and the lower back.
Looking back at everything, the year of scans, two cancer surgeries, radiation, a valve replacement, and finally a diagnosis nobody saw coming, Marcus does not describe it as a string of bad luck. He describes it as the reason he is still here. “Had I not advocated for myself and found the rare cancer early, I would have never found my defective aortic valve, and I would have never found what will finally kill me,” he said. “So, in effect, the cancer saved my life.”
He is now focused on getting everything fixed so he can stay active. “Life is awesome, and I love each and every day of it,” he said.
Key takeaways
— ATTR-CM can be uncovered by accident, through scans and surgeries originally ordered for something else entirely.
— Insisting on a repeat test, or a second opinion, when an initial result does not add up can change the entire course of a diagnosis.
— A misshapen or narrowed heart valve found during unrelated testing is worth a full cardiac workup, since amyloid can hide behind other structural heart problems.
— A Congo red stain on removed tissue, including a heart valve, is one way ATTR amyloidosis gets caught almost by chance.
— Wild-type ATTR-CM has no family genetic link and tends to appear later in life, which is different from the hereditary form.
— Persistence with your own doctors, even when they suggest waiting, is sometimes the difference between an early answer and a much later one.
SOURCES
1. Amyloidosis Foundation. Keith Watrous. How Rare Cancer Saved My Life https://amyloidosis.org/patient-story/how-rare-cancer-saved-my-life/