Four-time cancer survivor spreads awareness of Cowden syndrome

Growing up in El Paso, Jon Filbert loved collecting autographed Major League Baseball trading cards.

“I really was into it, and I still am,” says Jon, now 43. “My collection is up to about 150,000 cards, but who’s counting?”

Baseball cards aren’t all he collects. 

“I collect cancers, too,” he says.

During the last dozen years, Jon has been diagnosed with thyroid, lung, skin and kidney cancers. “In that order,” he says. “And I fully expect my cancer collection to grow.”

The first diagnosis: thyroid cancer

Jon first confronted cancer in 2008, when he noticed a tight feeling in his throat. Swallowing had become difficult. His voice had become hoarse and gravelly.

A CT scan ordered by a Dallas doctor revealed why.

“It turns out I had a softball-sized tumor on my thyroid gland, which sits just below the Adam’s apple,” Jon explains. “It had grown beyond the thyroid and travelled down my neck and into my right shoulder.”

Jon underwent a four-hour surgery to remove the invasive tumor, along with his entire thyroid gland. At a follow-up appointment one week after surgery, Jon learned he had follicular thyroid cancer – an aggressive form of the disease – and it had invaded his blood and lymph vessels.

“I’d been trying to remain positive until then,” Jon says.

Lung spot leads to treatment at MD Anderson

Before his thyroid surgery, Jon’s lungs had been X-rayed – a common, pre-operative requirement.

The resulting image revealed a curious shadow on his lower left lung. His doctor decided to simply watch the spot and intervene only if it grew bigger.

But after confirming Jon had thyroid cancer, the doctor became convinced that thyroid cancer had spread to Jon’s left lung, resulting in the troublesome X-ray.

“If I’d known the extent of your disease,” the doctor told Jon, “I would have sent you to MD Anderson the minute you walked through my door. That’s where you need to be. MD Anderson is your best hope.”

Days later, Jon arrived in Houston and embarked on what he calls “an epic cancer saga I never could have anticipated in my wildest dreams.”

A second diagnosis: lung cancer

Endocrinologist Steven Sherman, M.D., was the first in a long line of doctors Jon would encounter at MD Anderson. Sherman ordered a tissue sample from the suspicious spot on Jon’s lung. The results came back as inconclusive. This sometimes happens if the tissue sample is too small, Sherman explains.

To obtain a larger sample, thoracic and cardiovascular surgeon Ara Vaporciyan, M.D., removed one-third of Jon’s left lung. This time, the diagnosis was clear: Jon had non-small cell lung cancer – the most common form of the disease. It turns out thyroid cancer had not spread to his lung, after all.

“What are the odds of having two, unrelated, back-to-back cancers?” Jon recalls thinking. “Why is this happening to me?”

Jon’s lung cancer had already spread throughout his body, leaving him with about 10 months to live.

“I needed another option, and I needed it fast,” he says. “I’d gotten married the year before. I wasn’t willing to give up.”

Cowden syndrome confirmed

Sherman and oncologist Faye Johnson, M.D., Ph.D., suspected Jon’s double cancer diagnosis was more than a coincidence. Genetic testing confirmed their hunch.

Jon had a rare hereditary condition called Cowden syndrome. People with Cowden syndrome have a mutation in the PTEN gene. Normally, the gene makes a protein that helps control the rate at which cells divide and grow. But the Cowden mutation prevents PTEN from making this protein. Cells are free to multiply and grow out of control, and create noncancerous and cancerous growths inside and outside the body.

That’s why people with Cowden syndrome are at increased risk of developing multiple cancers before the age of 50, including thyroid, breast, uterine, colorectal, kidney, lung and skin cancer. It also causes multiple noncancerous, tumor-like growths that resemble skin tags, goosebumps or razor burn on various parts of the body.

“I had tiny facial bumps, but didn’t think much of it,” Jon says. “Now all the pieces fit together. Learning I had Cowden syndrome was an ‘aha’ moment.”

Clinical trial offers hope

Doctors offered Jon two treatment options. He could undergo chemotherapy to buy more time, or he could join a new clinical trial of an experimental drug named BEZ235. The drug was being tested for its ability to block the growth of cancer cells in people with Cowden syndrome.

With nothing to lose, Jon opted for the clinical trial.

For the next eight months, his life revolved around the clinical trial. He swallowed eight of the experimental pills each morning, then travelled to Houston each week to undergo a battery of tests that measured his body’s response to the drugs.

His wife, Betsy, and mother, Janna, came along to provide moral support.

“I’m not sure I could have made it without their love and support,” Jon says.

The medicine eventually made Jon so nauseated that doctors were ready to downgrade his dosage. He refused.

“I told them, ‘No, I’ve come this far, I’m going to push through.’”

Eventually, Jon’s tumors began to shrink, then stopped growing. By summer 2009, he had no evidence of new tumor growth, although cancer remained in his body.

He’s finished participating in the clinical trial and has not been treated for lung cancer since. But his MD Anderson doctors continue to monitor him closely.

Skin cancer diagnosis

Another seven years would pass before Jon confronted another new cancer diagnosis: skin cancer. While showering one morning, he discovered a curious, hard lump on his back.

He brought it to the attention of dermatologist Valencia Thomas, M.D., who had been diligently monitoring Jon since he became an MD Anderson patient.

“Cowden syndrome causes lots of lumps and bumps,” Jon says. “You don’t know if they’re cancerous or not, so my motto is ‘better safe than sorry.’ I tell Dr. Thomas anytime I see a new growth.”

Thomas removed the lump and diagnosed it as a dermatofibrosarcoma protuberans, a rare cancer that develops in the deep layers of skin. It sometimes has tentacles that can grow into surrounding fat, muscle and even bone.

“That’s three cancers and counting,” Jon says.

Cancer No. 4: kidney cancer

A few months later, a scan during a routine checkup revealed an ominous shadow on Jon’s right kidney.

“You guessed it – kidney cancer,” he says. “Cancer No. 4.”

After consulting Jon’s medical team, urologist Christopher Wood, M.D., used radiofrequency ablation to destroy the tumor with heat. This is done by placing a thin, needle-like probe through the skin in the back and into the tumor. Once a CT scan confirms the needle is in place, an electric current is passed through the tip of the probe. It heats the tumor and destroys the cancer cells.

Anesthesiologist Vivian Porche, M.D., was by Jon’s side, as always.

“She’s helped me through several procedures,” he says. “I always know with Dr. Porche in the room, I’ll be OK,” he says.

Spreading awareness about Cowden syndrome

To advance the medical community’s understanding of Cowden syndrome, Jon shares his story at cancer conferences and seminars. He and other genetic disease survivors also host a panel discussion each year for genetic counseling students at MD Anderson UTHealth Graduate School of Biomedical Sciences.

“We want them to see us,” he says, “not just read about us in a book.”

He’s delighted when medical and nursing trainees attend his doctors’ visits as part of their training.

“When you have a rare disease, you have an obligation to give back,” he says.

Staying one step ahead of cancer and Cowden syndrome

Jon knows that, because of Cowden syndrome, cancer will always be a part of his life.

“I’ll just have to stay one step ahead of it,” he says. “The goal is to catch it early, then force it to back down.”

He tries to maintain as much normalcy as possible. By day, he’s an accountant at a property management company.

“The owner and management team have been very supportive – they provide me with time off to fight this disease, and they care about me as a person, not just an employee,” he says.

When the workday ends, he spends time with Fifi, his beloved Shih Tzu, and works on his baseball card collection.

Every three months, he returns to MD Anderson for a head-to-toe checkup.

Every six months, head and neck surgeon Stephen Lai, M.D., examines Jon’s vocal cords for precancerous growths called leukoplakia – another consequence of Cowden syndrome.

And every year, Jon undergoes full-body PET and CT scans to detect abnormal growths that may signal cancer. He also has yearly colonoscopies performed by gastroenterologist Marta Davila, M.D., and breast checks performed by breast medical oncologist Banu Arun, M.D. Men, especially those with Cowden syndrome, can develop breast cancer, Jon explains.

“I have an entire health care team on my side, watching my back,” he says. “The support I get at MD Anderson is phenomenal.”

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