One man’s journey with Cowden syndrome

About one in 200,000 people are diagnosed with Cowden syndrome (CS), which is caused by mutations to the PTEN gene. But, according to the American Society of Clinical Oncology, the condition goes undiagnosed in many people.

That’s especially concerning given that CS significantly increases a person’s risk for a number of cancers, including breast, thyroid, endometrial and colorectal cancer, says Melody Perpich, genetic counselor at the Creticos Cancer Center at Advocate Illinois Masonic Medical Center in Chicago.

For Brian Simmons, a 57-year-old Chicago resident, CS went undiagnosed for many years. He first experienced symptoms at age 11 when he developed a benign blood vessel tumor in his left arm. The tumor was removed, returned a year later and was removed again.

“Almost everyone with CS develops hamartomas, benign growths of tissue that are not cancerous and can occur in different parts of the body,” says Perpich. “They typically appear by the person’s late 20s. These growths are most commonly found on the skin and mucous membranes such as the lining of the mouth and nose, but they can also occur in the intestinal tract and other parts of the body.”

Over the years, Simmons has had a number of other problems related to his undiagnosed CS, including thyroid cancer, a large growth in his left eye, colon polyps and several small benign tumors on his body. It wasn’t until he was in his 50s that his CS was finally diagnosed, after a biopsy was done following surgery to remove a growth on one of his testicles.

Simmons has been working with Perpich for about two years to better understand his condition and his increased risk for certain cancers. Although both his parents have passed away, knowing what he knows now, Simmons suspects family members on his mother’s side might have also had CS.

“It can be disheartening,” says Simmons. “You’re dealing with a matter that you know is not beneficial to the quality of life. There’s no real cure. No answer. I went through a phase where I lost some interest in it, for those very reasons. But I realized it was to my benefit to find out as much as possible so I could look down the road.”

Today, Simmons is committed to being proactive and using his knowledge about his diagnosis to his benefit. Perpich recently encouraged him to participate in a CS research study.

“Knowing all this is hard,” Simmons says. “But it puts you in a position of being proactive. It gives you a base to prepare on.”