Patient Takes Steps Toward Proactive Care Following Three Cancer Diagnoses 

Elizabeth Johnston, then 37, was healthy and busy with two young children and a blossoming career running a public relations firm in Connecticut. One of her clients is the Hartford Marathon Foundation and in 2015, she decided to start running smaller stretches herself.  

“I was in the best shape of my life,” Johnston recalls.  

Little did she know, her personal health race had just begun. While putting on her sports bra before a workout, Johnston noticed a lump in one of her breasts. She called her doctor at the University of Connecticut, but didn’t think much of it. She was fit and energetic, with a marathon to publicize — and a separate five-mile race to finish in her hometown. 

On a Friday afternoon, her doctor felt the lump and immediately ordered a breast ultrasound. On Saturday, she completed a five-miler. By Monday morning, Johnston had a biopsy. 

“By Wednesday, I knew that I had cancer,” states Johnston. “It was that fast, and it was my biggest, busiest workweek, so I carried on with my day and got what I had to get done.” 

With clearance from her care team to keep up with her daily activities, her keep-moving-forward attitude saw her through a breast MRI and a subsequent PET scan, at which point a spot on her lung was also detected. The unthinkable had happened: Johnston had breast cancer and a seemingly unrelated lung cancer, too. 

Her breast cancer had spread to her lymph nodes. Fortunately, her lung cancer was not advanced, and Johnston was cleared to begin treatment within the month. She also underwent genetic testing because her care team found the occurrence of two unrelated cancers before age 40 suspicious.  

Genetic counselors discussed whether she was a carrier of a mutation in one of the BRCA genes, which increases a person’s risk of developing breast cancer, despite no strong family history of the disease. Bloodwork, however, revealed something more unusual: a TP53 mutation, which confirmed the diagnosis of Li-Fraumeni syndrome (LFS). People with LFS have greatly increased lifetime risks of cancer, especially rare tumors such as soft-tissue sarcomas and osteosarcomas. They can also develop more common tumors at a young age, such as breast and colorectal cancer. The syndrome is often inherited, although in Johnston’s case, it is not clear. 

“A small number of people are the first to have a de novo mutation in their family,” explains Matthew B. Yurgelun, MD, director of Clinical Research at Dana-Farber’s Center for Cancer Genetics and Prevention. De novo mutations describe changes in a person’s DNA that were not seen in previous generations. “When sperm met egg, a mutation happened to develop in the wrong place.”  

Johnston’s hometown oncologist referred her to Dana-Farber’s Li-Fraumeni Syndrome and TP53 Center, where she met with Judy Garber, MD, MPH, chief of Cancer Genetics and Prevention. 

“Dana-Farber was phenomenal,” expresses Johnston. “I felt like a priority.” 

Johnston’s treatments at Dana-Farber began in January 2016, including breast consultations with Garber; Wendy Chen, MD, MPH; Thanh Barbie, MD; and Charles Hergrueter, MD; and thoracic consultations with Scott Swanson, MD, and Peter Hammerman, MD, PhD.  

While Johnston was worried about her own health, she was also concerned about her children, Molly and Sawyer. Due to the inherited nature of Li-Fraumeni syndrome, the family wanted to determine whether they were carriers.  

“I did the Google doom-searching,” reflects Johnston. “Though it seemed as if Li-Fraumeni syndrome was rare, I knew there was a 50% chance for each of my children. My husband and I were immediately on the same page. We needed to know because it’s so prevalent in childhood cancers, and this was the scariest thing for us.” 

The family traveled from Connecticut to Boston for two days of testing with Junne Kamihara, MD, PhD, at the Jimmy Fund Clinic. 

“There was an immediate sense that we were among the best people in the world to take care of this,” Johnston says.  

While Johnston says the wait for the test results was stressful, the results showed some long overdue good news – neither of her children had the condition.  

“It’s nothing short of a miracle that neither of them have the gene,” says Johnston. “I felt an overwhelming sense of relief and gratefulness around it, but certainly, I wonder, ‘Why were my kids spared?’”  

To pay it forward, Johnston is now part of the Li-Fraumeni Syndrome Association (LFSA) to spread awareness and to find connection.  

“When you hear kids and family’s stories, it’s not fair,” she explains. “We got lucky.” 

But Johnston still had a long road ahead. In March 2016, Johnston underwent a bilateral mastectomy, followed by reconstructive surgery. In April, Johnston received treatment for lung cancer, including a surgical resection and a lymph node dissection. In addition to surgeries, Johnston endured nearly a year of chemotherapy and radiation, barely missing a beat at work. This career focus was as potent as traditional medicine, she says. 

“My last day of radiation was on a Friday,” she recalls. “I had to go to San Antonio for a national conference for a client. I completed my last treatment, my bag was in the car, and I marched out of there and over to the airport. I knew that, for me, I just had to keep doing things outside of cancer.” 

That included completing a half-marathon, despite the painful memories of her initial race right before she was diagnosed with breast cancer. 

“Running is what made me strong and had prepared my body to do what it had to do that year,” she says. “I planned my reconstruction surgery for February, so I could run the Key West Half Marathon in January 2017.” 

After that, Johnston continued with subsequent whole-body MRIs at Dana-Farber with Garber. At age 40, she also began annual colonoscopies. At this point, life had calmed down – her kids were settled in fifth and third grades, work was busy, and she was symptom-free. 

In May 2021, however, a routine colonoscopy found early-stage colorectal cancer. She soon underwent surgery led by Jennifer Lynn Irani, MD, to not only remove the tumor, but also to create – and eventually close – an ileostomy, an opening in the abdominal wall that allows waste to drain into a collection bag.  She also began seeing Yurgelun for follow-up care. 

While she tried to remain upbeat for other surgeries, this one, caused by a new cancer and seemingly out of nowhere, was tougher.  

“I woke up with an ostomy bag,” she remembers. “It was brutal. I spent a week in bed, but I knew I had to stop my pity party. I got myself together, and I went into mom mode”.  

Johnston went to softball games and end-of-school events with a catheter and ostomy bag. Sawyer even made an all-star summer baseball team. Until then, she’d been quiet about her cancer struggles, but now, she felt it was impossible to hide. 

“I’m traveling with all this stuff, like the catheter supplies, on the sidelines,” she explains. “I’m emptying an ostomy bag at Little League and wearing a baggy dress to my daughter’s First Communion. I posted a photo on social media of myself and my mom leaving Boston with a recap that said, ‘It’s been a long three months!’ Moms from the baseball team were like, ‘I had no idea!’ I don’t want people to feel sorry for me. I don’t want to be the girl with cancer all the time.” 

Today, Johnston is in remission and closely followed by Yurgelun. While Johnston credits Dana-Farber with helping her get back on track with her health, Yurgelun also applauds Johnston as a proactive patient.  

“Because she was vigilant, she was found to have colorectal cancer with no symptoms,” says Yurgelun.  “Fortunately, it was a very early-stage cancer, and it could be surgically removed. Liz is a great example of early detection.” 

Today, her care is centralized through Dana-Farber’s Li-Fraumeni Syndrome and TP53 Center. Because LFS is implicated in so many cancers, from adrenal to stomach to colon, seamless coordination is essential. 

“We’re the quarterback of someone’s Li-Fraumeni care, coordinating, tracking, and overseeing whatever screening that person needs, including MRIs, colonoscopies, endoscopies, pancreatic imaging,” Yurgelun explains.   

He’s optimistic that early detection is saving lives, particularly through Dana-Farber’s Centers for Early Detection and Interception, which specializes in following patients with genetic precursors such as LFS. 

“It used to be that Dana-Farber was where to come if you have cancer,” remarks Yurgelun. “We want it to be where you go to detect cancer early, and hopefully prevent it from even happening.” 

Johnston, in remission and back on the sports sidelines, is happy to spread the word far and wide.  

“We were just at a baseball tournament for my son in Long Island,” she describes. “Someone’s mom is going through cancer, and they live in Massachusetts. I said, ‘You’ve got to go to Dana-Farber. They are the absolute best.’”