Brian Novak is an avid cyclist, snowboarder and hiker who looks much younger than his 51 years.

This athlete’s fitness and adventurous spirit are especially remarkable considering the health challenges he’s had to face.

For more than two decades, Novak has managed Type 1 diabetes – an autoimmune disease that attacks his body’s ability to produce insulin and metabolize blood sugar. Keeping his diabetes under control requires constant vigilance.

But another health problem that will not go away hangs over Novak. He is living with Li-Fraumeni syndrome. It is a genetic condition caused by a mutation of the p53 gene, which normally plays an important role in suppressing tumors from forming. Those with the mutation are at greatly increased risk for a variety of cancers.

In 2009, at age 36, Novak endured a grueling bout with Stage 3 colon cancer. Then in 2019, he was diagnosed with testicular cancer. A second cancer for someone not yet 50 raised suspicions, and led to genetic testing, which confirmed the p53 mutation.

The genetic coding error has continued to wreak havoc in Novak’s life. Since the testing, he has survived lung, thyroid and kidney cancers. Today, he is cancer-free, but because of the p53 mutation, the threat of a new cancer perpetually hangs over him.

Meeting the challenges of living with Li-Fraumeni syndrome

Novak’s struggles leave one to ponder the mysteries of why disease strikes some and spares others. There is no history of Type 1 diabetes or the p53 mutation in his family, and he’s been in good physical condition throughout his life.

“I wouldn’t be the guy with Type 1 diabetes and cancer that you picked out of a lineup of middle-aged men,” Novak says. “I don’t know how I got so lucky. Sometimes I tell people that, aside from diabetes and cancer, I’m very healthy.”

It’s an understandable bit of dark humor. But for Novak, disease is not destiny. He works hard to manage his own health with the help of specialty care from committed medical providers at UCHealth. With that combination, he lived life on his own terms but keeps a wary eye on the future.

“I don’t believe that having a chronic illness or dealing with cancer means that you cannot be healthy and live a long life,” he says.

Help with managing both Type 1 diabetes and cancer

For example, Dr. Satish Garg, director of the Adult Diabetes Division at the Barbara Davis Center for Childhood Diabetes on the Anschutz Medical Campus, has helped Novak manage his Type 1 diabetes since it was diagnosed.

With Garg’s guidance – which began when Novak was in his 20s – he has managed his diabetes well and has improved his glucose control significantly. The biggest difference: using a continuous glucose monitor and a pump that delivers insulin automatically as needed.

“That was life-changing,” Novak says of the monitor and pump. “The technology has made managing the diabetes so much easier.”

In addition, Novak sees UCHealth medical oncologist and hereditary cancer specialist Dr. Anosheh Afghahi, who has experience caring for other patients with Li-Fraumeni syndrome. In managing those patients, Afghahi follows a screening approach known as the Toronto Protocol. The guidelines, which have been adopted by the National Comprehensive Cancer Network, formalize surveillance strategies for both children and adults. These include MRIs, ultrasounds, and varieties of blood tests and procedures. The strategies are tailored to particular types of cancer.

“I function like a primary care physician for patients with hereditary syndromes,” Afghahi said.

As part of his surveillance, Novak annually undergoes a full-body MRI and a brain scan. The MRI offers his providers an overall assessment of his organs and potential trouble spots, Afghahi said.

“The screening guidelines help to find cancers at an earlier stage when they are curable,” she said. “If we see something, we can get a more dedicated test.”

Novak’s experience is a case in point. In 2021, his full-body MRI turned up a spot on his kidney. That led to a biopsy that revealed a solid mass called an oncocytic neoplasm. The lesion was small, and providers might have recommended monitoring it in a patient without Li-Fraumeni syndrome, Novak noted. In his case, the risk of malignancy was too great, and UCHealth urologic oncologist Dr. Nicholas Cost destroyed the mass with two freezing procedures.

Li-Fraumeni syndrome leads to lung cancer

Early detection and innovative surgical techniques also helped Novak maintain his healthy lifestyle. In 2019, a PET scan showed a spot on his left lung. Knowing his increased cancer risk, Novak wanted a more aggressive response to the finding than he was initially offered. After a biopsy revealed the nodule was cancerous but still at an early stage, Novak followed a recommendation to see UCHealth thoracic surgeon Dr. John Mitchell.

Mitchell recommended a video-assisted procedure that was appropriate for patients with a nodule the size of Novak’s – about 1 centimeter. With the procedure, Mitchell aimed to avoid removing the entire left upper lobe of the lung and leaving two segments intact.

“I was doing lots of biking and running and wanted to preserve as much lung function as possible,” Novak recalled.

Mitchell successfully removed the nodule and cancerous cells around it on a Wednesday in April 2020, and Novak left the hospital the following Friday. That Saturday, he was on his bike trainer and spent the summer healing and rehabbing from the surgery. A recent chest X-ray showed that his remaining left lung had expanded to fill the chest cavity.

“The human body is incredible in its ability to adapt to changes,” Novak said. “I do everything I’ve done before and push my activity pretty hard.”

Detection and treatment thwart a thyroid cancer threat

But even his successful lung cancer surgery was stained by disappointment. During the PET scan of his lung, his thyroid had “lit up” with a cellular signal that was yet another warning sign of disease.

“That was devastating,” Novak recalled. “I had had no symptoms.”

Garg referred Novak to Dr. Bryan Haugen, head of the University of Colorado School of Medicine Division of Endocrinology, Metabolism and Diabetes, who diagnosed Novak with papillary thyroid cancer, the most common type of the disease. Haugen referred Novak for surgery that removed half of his thyroid in May 2020. Back-to-back cancer diagnoses and surgeries were an ordeal, but early detection spared Novak an even more difficult path to recovery.

The importance of integrated care

Novak’s twin challenges with Type 1 diabetes and Li-Fraumeni syndrome illustrate the importance of coordinated specialty care. For example, the drugs used for 12 rounds of chemotherapy to treat his colon cancer in 2009 caused insulin resistance and drove up his blood sugar levels, Garg explained. But Garg, who has nearly a half-century of experience treating diabetes, worked with the hospital to manage Novak’s insulin therapy conservatively – as he does all of his patients – and thus minimize the risk of insulin shock.

“Diabetes does not kill in weeks or months,” Garg said. “It causes cardiovascular disease, kidney problems and blindness when you don’t manage it well for years and years. During a three-day period [around chemotherapy treatment], you don’t want to be aggressive with insulin. Take a global picture.”

Garg noted that insulin is a growth factor that can contribute to increased cancer risk, particularly in combination with being overweight or obese. In that respect, too, Novak has taken the proper steps to maintain his health and manage his risk, he added.

“His glucose control is in the near-normal range, he takes only small amounts of insulin, and he is not overweight or obese,” Garg said. The risk factor that remains out of Novak’s control is his Li-Fraumeni syndrome, he said.

Dealing with the mental challenge of Li-Fraumeni syndrome

Novak recently completed his first problem-free full-body MRI, which he called “a little bit of a reprieve.” He says he feels “physically fantastic” after two years of procedures and recoveries. But he doesn’t minimize the strain of the struggle.

“It’s been difficult mentally,” Novak said. “I met with a therapist because it was so overwhelming to process having had these cancers.”

“Cancer nightmares” that centered on going through chemotherapy and surgeries, as well as “recurring visions” of the experiences, disrupted his sleep. Therapy helped him to deal with those problems, but he said he still has “triggers,” such as “hearing something that even sounds like ‘cancer.’ That immediately grabs my attention.”

Another source of stress comes from the frequent imaging tests that are a regular feature of his life. “Scanxiety,” as he and other patients call it, “can be really intense. You get a report, and you don’t know what to make of it.”

Afghahi said she and other hereditary cancer specialists try to reduce stress and anxiety in their patients by helping them to manage and understand the details of their care.

“I help them to let go a little of that fear and allow me to make sure we are on top of screenings,” she said. “They don’t have to explain everything because they are coming to someone who knows the current treatment guidelines. That can help to reduce some of the personal stressors.”

Colorado’s outdoors becomes his ‘anti-depressant’

Therapy ultimately provided some relief, Novak said, as did self-help. He stayed active by hiking and biking with his wife, Corey, and answering his dog’s demands for walks.

“Mentally, that helps to clear the mind,” he said. “It’s better than any anti-depressant you can take.”

Novak’s turn to the outdoors was far from a midlife or post-disease conversion. He grew up in Michigan, attended Michigan State University and joined the ski club. He was a freshman when the team made a trip to Steamboat Springs. His first look at the towering peaks ultimately changed his life course.

“I was sold,” he recalled. “I said I’m moving to Colorado.” He did so 25 years ago and still hits the slopes with his snowboard and a season pass.

His recovery from colon cancer and chemotherapy included kayaking in Vail with First Descents, a non-profit organization that offers outdoor adventure programs for adults ages 18-39 who are dealing with cancer. He also successfully summited Mount Kilimanjaro in Africa in 2010. That ascent came from his association with the CancerClimber Association, started by Sean Swarner, the first cancer survivor to complete the “7 Summits” – reaching the top of the highest peaks on each continent. Novak had been working with the group before his colon cancer bout. After his diagnosis and treatment, he reached out to Swarner, who invited him to make the Kilimanjaro climb.

“I think that staying active is part of the reason I’m still alive,” Novak said. He added that he carefully minds his diet and is “mostly vegetarian” – another part of doing what he can to limit his risk of disease.

Continuing to live with Li-Fraumeni syndrome

He also has worked steadily as an independent web developer, even during his chemotherapy regime. “It’s good to stay busy, even through tough health issues,” he said.

Novak is quick to acknowledge the role that UCHealth providers have played in his recovery and ongoing care. “They have all been great,” he said. “They always take the time to listen to my concerns and help me to come up with a plan of action. I also have an amazing support system. My family, friends and my wife Corey have all been there with me every step of the way.”

Despite the uncertainty imposed by his genetics, Novak refuses to allow the threat of disease to dictate his life.

“There is a lot against me, health-wise. I know there is the potential for more cancer,” he acknowledges. “But I try to live my life as much as I can and say ‘yes’ to more of the things that are going to bring me joy. I think that most cancer survivors have a unique perspective in that they have more of an appreciation for life.”