{"id":70965,"date":"2023-08-10T11:13:19","date_gmt":"2023-08-10T17:13:19","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/?p=70965"},"modified":"2023-09-28T15:59:29","modified_gmt":"2023-09-28T21:59:29","slug":"defeating-5-cancers-living-with-li-fraumeni-syndrome","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/defeating-5-cancers-living-with-li-fraumeni-syndrome\/","title":{"rendered":"He has faced down five cancers and a rare genetic mutation. How to live a great life despite Li-Fraumeni syndrome."},"content":{"rendered":"
<\/div>
\"Brian
Brian Novak, who has a genetic condition called Li-Fraumeni syndrome, and his wife Corey enjoy a bike ride. Photo courtesy of Brian Novak.<\/figcaption><\/figure>\n

Brian Novak is an avid cyclist, snowboarder and hiker who looks much younger than his 51 years.<\/p>\n

This athlete\u2019s fitness and adventurous spirit are especially remarkable considering the health challenges he\u2019s had to face.<\/p>\n

For more than two decades, Novak has managed Type 1 diabetes<\/a> \u2013 an autoimmune disease that attacks his body\u2019s ability to produce insulin and metabolize blood sugar. Keeping his diabetes under control requires constant vigilance.<\/p>\n

But another health problem that will not go away hangs over Novak. He is living with Li-Fraumeni syndrome. It is a genetic condition<\/a>\u00a0caused by a mutation of the p53 gene<\/a>, 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.<\/p>\n

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

The genetic coding error has continued to wreak havoc in Novak\u2019s 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.<\/p>\n

Meeting the challenges of living with Li-Fraumeni syndrome<\/strong><\/h2>\n

Novak\u2019s 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\u2019s been in good physical condition throughout his life.<\/p>\n

\u201cI wouldn\u2019t be the guy with Type 1 diabetes and cancer that you picked out of a lineup of middle-aged men,\u201d Novak says. \u201cI don\u2019t know how I got so lucky. Sometimes I tell people that, aside from diabetes and cancer, I’m very healthy.\u201d<\/p>\n

It\u2019s 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.<\/p>\n

\u201cI don’t believe that having a chronic illness or dealing with cancer means that you cannot be healthy and live a long life,\u201d he says.<\/p>\n

\"Brian
Brian Novak with his dad Paul. Photo courtesy of Brian Novak.<\/figcaption><\/figure>\n

Help with managing both Type 1 diabetes and cancer<\/strong><\/h2>\n

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

\"Dr.
Dr. Satish Garg has helped Brian manage his Type 1 diabetes for more than 20 years. Photo: UCHealth.<\/figcaption><\/figure>\n

With Garg\u2019s guidance \u2013 which began when Novak was in his 20s \u2013 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.<\/p>\n

\u201cThat was life-changing,\u201d Novak says of the monitor and pump. \u201cThe technology has made managing the diabetes so much easier.\u201d<\/p>\n

In addition, Novak sees UCHealth medical oncologist and hereditary cancer specialist Dr. Anosheh Afghahi<\/a>, 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<\/a>. 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.<\/p>\n

\u201cI function like a primary care physician for patients with hereditary syndromes,\u201d Afghahi said.<\/p>\n

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.<\/p>\n

\u201cThe screening guidelines help to find cancers at an earlier stage when they are curable,\u201d she said. \u201cIf we see something, we can get a more dedicated test.\u201d<\/p>\n

Novak\u2019s 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<\/a> destroyed the mass with two freezing procedures.<\/p>\n

Li-Fraumeni syndrome leads to lung cancer<\/strong><\/h2>\n
\"Brian
Brian Novak enjoys mountain biking in Tucson, Arizona. Enjoying outdoor sports has helped him stay fit and cope with the challenges of living with Li-Fraumeni syndrome. Photo courtesy of Brian Novak.<\/figcaption><\/figure>\n

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<\/a>.<\/p>\n

Mitchell recommended a video-assisted procedure<\/a> that was appropriate for patients with a nodule the size of Novak\u2019s \u2013 about 1 centimeter. With the procedure, Mitchell aimed to avoid removing the entire left upper lobe of the lung and leaving two segments intact.<\/p>\n

\u201cI was doing lots of biking and running and wanted to preserve as much lung function as possible,\u201d Novak recalled.<\/p>\n

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.<\/p>\n

\u201cThe human body is incredible in its ability to adapt to changes,\u201d Novak said. \u201cI do everything I\u2019ve done before and push my activity pretty hard.\u201d<\/p>\n

Detection and treatment thwart a thyroid cancer threat<\/strong><\/h2>\n

But even his successful lung cancer surgery was stained by disappointment. During the PET scan of his lung, his thyroid had \u201clit up\u201d with a cellular signal that was yet another warning sign of disease.<\/p>\n

\u201cThat was devastating,\u201d Novak recalled. \u201cI had had no symptoms.\u201d<\/p>\n

Garg referred Novak to Dr. Bryan Haugen<\/a>, head of the University of Colorado School of Medicine Division of Endocrinology, Metabolism and Diabetes<\/a>, who diagnosed Novak with papillary thyroid cancer<\/a>, 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.<\/p>\n

\"Brian
Brian (center) with members of the CancerClimber Association after summiting Mount Kilimanjaro in 2010. Photo courtesy of Brian Novak.<\/figcaption><\/figure>\n

The importance of integrated care<\/strong><\/h2>\n

Novak\u2019s 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\u2019s insulin therapy conservatively \u2013 as he does all of his patients \u2013 and thus minimize the risk of insulin shock.<\/p>\n

\u201cDiabetes does not kill in weeks or months,\u201d Garg said. \u201cIt causes cardiovascular disease, kidney problems and blindness when you don\u2019t manage it well for years and years. During a three-day period [around chemotherapy treatment], you don\u2019t want to be aggressive with insulin. Take a global picture.\u201d<\/p>\n

Garg noted that insulin is a growth factor that can contribute to increased cancer risk<\/a>, 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.<\/p>\n

\u201cHis glucose control is in the near-normal range, he takes only small amounts of insulin, and he is not overweight or obese,\u201d Garg said. The risk factor that remains out of Novak\u2019s control is his Li-Fraumeni syndrome, he said.<\/p>\n

Dealing with the mental challenge of Li-Fraumeni syndrome<\/strong><\/h2>\n

Novak recently completed his first problem-free full-body MRI, which he called \u201ca little bit of a reprieve.\u201d He says he feels \u201cphysically fantastic\u201d after two years of procedures and recoveries. But he doesn\u2019t minimize the strain of the struggle.<\/p>\n

\"Medical
Medical oncologist and hereditary cancer specialist Dr. Anosheh Afghahi managers care for Brian and other patients with Li-Fraumeni syndrome. Photo by the University of Colorado.<\/figcaption><\/figure>\n

\u201cIt\u2019s been difficult mentally,\u201d Novak said. \u201cI met with a therapist because it was so overwhelming to process having had these cancers.\u201d<\/p>\n

\u201cCancer nightmares\u201d that centered on going through chemotherapy and surgeries, as well as \u201crecurring visions\u201d of the experiences, disrupted his sleep. Therapy helped him to deal with those problems, but he said he still has \u201ctriggers,\u201d such as \u201chearing something that even sounds like \u2018cancer.\u2019 That immediately grabs my attention.\u201d<\/p>\n

Another source of stress comes from the frequent imaging tests that are a regular feature of his life. \u201cScanxiety,\u201d as he and other patients call it, \u201ccan be really intense. You get a report, and you don\u2019t know what to make of it.\u201d<\/p>\n

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.<\/p>\n

\u201cI help them to let go a little of that fear and allow me to make sure we are on top of screenings,\u201d she said. \u201cThey don\u2019t 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.\u201d<\/p>\n

Colorado’s outdoors becomes his ‘anti-depressant’<\/strong><\/h2>\n

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\u2019s demands for walks.<\/p>\n

\"Brian
Brian and his brother Mark enjoy the great outdoors. Photo courtesy of Brian Novak.<\/figcaption><\/figure>\n

\u201cMentally, that helps to clear the mind,\u201d he said. \u201cIt\u2019s better than any anti-depressant you can take.\u201d<\/p>\n

Novak\u2019s 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.<\/p>\n

\u201cI was sold,\u201d he recalled. \u201cI said I\u2019m moving to Colorado.\u201d He did so 25 years ago and still hits the slopes with his snowboard and a season pass.<\/p>\n

His recovery from colon cancer and chemotherapy included kayaking in Vail with First Descents<\/a>, 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<\/a>, started by Sean Swarner, the first cancer survivor to complete the \u201c7 Summits\u201d \u2013 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.<\/p>\n

\u201cI think that staying active is part of the reason I\u2019m still alive,\u201d Novak said. He added that he carefully minds his diet and is \u201cmostly vegetarian\u201d \u2013 another part of doing what he can to limit his risk of disease.<\/p>\n

Continuing to live with Li-Fraumeni syndrome<\/strong><\/h2>\n

He also has worked steadily as an independent web developer, even during his chemotherapy regime. \u201cIt\u2019s good to stay busy, even through tough health issues,\u201d he said.<\/p>\n

Novak is quick to acknowledge the role that UCHealth providers have played in his recovery and ongoing care. \u201cThey have all been great,\u201d he said. \u201cThey 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.\u201d<\/p>\n

Despite the uncertainty imposed by his genetics, Novak refuses to allow the threat of disease to dictate his life.<\/p>\n

\u201cThere is a lot against me, health-wise. I know there is the potential for more cancer,\u201d he acknowledges. \u201cBut I try to live my life as much as I can and say \u2018yes\u2019 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.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

Brian Novak is an avid cyclist, snowboarder and hiker who looks much younger than his 51 years. This athlete\u2019s fitness and adventurous spirit are especially remarkable considering the health challenges he\u2019s had to face. For more than two decades, Novak has managed Type 1 diabetes \u2013 an autoimmune disease that attacks his body\u2019s ability to […]<\/p>\n","protected":false},"author":2143,"featured_media":70973,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[7],"tags":[9190,28,49,2092,988,2635,47,6836,9189,9179],"class_list":["post-70965","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-stories","tag-adult-genetic-testing","tag-cancer-care-oncology","tag-cancer-treatment","tag-colon-cancer","tag-diabetes-endocrinology-care","tag-diabetes-management","tag-genetic-testing-and-counseling","tag-lung-and-thoracic-cancer","tag-thyroid-cancer-treatment","tag-urologic-cancer-treatment-2"],"acf":[],"yoast_head":"\nDefeating 5 cancers: How he's living with Li-Fraumeni syndrome - UCHealth Today<\/title>\n<meta name=\"description\" content=\"Brian Novak\u2019s challenges of living with Li-Fraumeni syndrome, Type 1 diabetes and cancer illustrate the value of coordinated specialty care.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.uchealth.org\/today\/defeating-5-cancers-living-with-li-fraumeni-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"He has faced down five cancers and a rare genetic mutation. 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