Family ties: A special clinic helps kids with family history of cancers

Of the countless things an expectant mother doesn’t want to hear during her pregnancy, “You have cancer,” is perhaps too scary to even be imagined. 

But that’s exactly what happened to Kristine Koser in early 2019.

“I was 12 weeks pregnant,” said Kristine, “and I was diagnosed with stage three colon cancer.”

Because of Kristine’s age, her doctor recommended she undergo genetic testing. Generally speaking, developing any cancer under the age of 50 is a warning sign. Kristine was only 31. 

Kristine’s test revealed she had Li-Fraumeni syndrome (LFS), a rare genetic condition that greatly increases the likelihood of developing cancer. Even more troubling, there was a 50 percent chance the condition would be passed onto her unborn baby. 

“I’m actually an OB-GYN myself, and I remembered back from my med school days hearing about this rare genetic mutation that ran in families and increased everybody’s risk of cancer,” said Kristine. “I was pretty shocked that suddenly I was that rare person with the rare family.”

Just 24 hours after the cancer was found, Kristine underwent surgery to remove the tumor. During the remaining 24 weeks of her pregnancy, she underwent nine cycles of chemotherapy — she completed her final three cycles after giving birth.

On Oct. 14, 2019, Aubrey Rose was born. She was 5 pounds, 8 ounces. Everything went smoothly and as planned. She was born at the Froedtert & the Medical College of Wisconsin Birth Center, and then had a short stay in the adjoining Children’s Wisconsin Neonatal Intensive Care Unit (NICU). 

A few days later, Aubrey was tested for LFS. It was positive. 

For people with LFS, there is a 50 percent chance they will develop cancer by age 30 — and a 90 percent chance by age 60. For kids, the highest risks are for sarcomas, leukemia, brain tumors and adrenal cancers. 

“We definitely knew all the statistics around Li-Fraumeni,” said Kristine. “While some develop cancer at a younger age, some don’t start getting cancers until adulthood. We were just very hopeful it wouldn’t affect Aubrey as a child since it didn't affect me until I was 31.”

A new approach to care

Right around the same time Aubrey was being born, in another part of Children’s Wisconsin Kerri Becktell, MD, a pediatric oncologist at the MACC Fund Center for Cancer and Blood Disorders, was working on something that would change Aubrey’s life. Dr. Becktell was about to open the Cancer Predisposition Program.

The Children’s Wisconsin Cancer Predisposition Program was started by Dr. Becktell and genetic counselor Amy Ott, MS, CGC, in December 2019. It offers comprehensive care for children with a known cancer predisposition syndrome or a known family history of one. It was the first — and remains the only — program of its type in Wisconsin. 

“The goal of the Cancer Predisposition Program is to provide a unique space for patients and families who have genetic changes that lead them to be at an increased risk for cancer development,” said Dr. Becktell. “Before this clinic, these patients came to Children's Wisconsin, but they were kind of spread all over the place — some were in oncology, some were in genetics, some were in endocrine, some were in GI. Our goal was to create a central program to be able to help serve the unique needs of these patients and families.”

Dr. Becktell is also an assistant professor at the Medical College of Wisconsin, the academic partner of Children’s Wisconsin. It’s this combination of patient care, research and innovation that allows Children’s Wisconsin doctors to constantly be pushing the boundaries of patient care.

Aubrey was referred to Dr. Becktell — she was actually one of the program’s very first patients — and the monitoring began right away. Aubrey started having whole body and brain MRIs every year and an abdominal ultrasound every four months. She also had regular blood tests to check for leukemia. 

“Because she was so young, she couldn't really communicate certain symptoms with us,” said Kristine. “It was really intensive monitoring.” 

For just about three years, the tests and scans came back clean. Until, one day, they didn’t. 

July 2022, a few months before Aubrey’s 3rd birthday, a whole body MRI showed something in her upper right thigh. An additional MRI and biopsy confirmed the mass was cancerous — embryonal rhabdomyosarcoma. 

Even though in the back of their minds they always knew this was a real possibility — a fear that would creep in with every mysterious bruise or nagging fever — the news was still devastating. 

“We knew it was a risk, but we still didn't want to believe it could happen to our little girl,” said Kristine. “We just felt crushed, like we couldn't breathe. Totally blindsided because she didn't have any symptoms.”

A foundation of trust

Thankfully, due to their involvement with the Cancer Predisposition Program, the next steps took place immediately. They received the test results on a Wednesday and by the following Tuesday they were already back at Children’s Wisconsin for follow-up testing. 

“We were so lucky to already be plugged in exactly where we needed to be at the MACC Fund Center,” said Kristine. “Being in the Predisposition Program led to that screening, led to catching it early and we already had all the pieces in place. Dr. Becktell treats solid tumors, so we already knew she would be our oncologist and we had a really good relationship with her. We were able to expedite everything and get her treatment started.” 

That relationship with the patients is something that’s unique to the Cancer Predisposition Program. In most cases, the first time a family meets with an oncologist is when they’re being told their child has cancer. Often a deep and personal bond will be formed, but it can be a traumatic start. 

“That’s part of my job and that’s okay. I spend a lot of time building that foundation of trust with families,” said Dr. Becktell. “But I met Aubrey when she was 3 months old. I’ve been lucky to watch her grow and blossom. I wasn't a stranger telling them their child had cancer. I believe that makes a big difference.” 

Within about three weeks of that life-altering MRI, Aubrey had her port placed and began chemotherapy. For the next 16 months, she would undergo surgery, 20 cycles of chemotherapy and five weeks of radiation. Like any cancer treatment, it was a long and difficult journey — with some good days and many bad. But Aubrey persevered as she always does.  

Just after Thanksgiving 2023, Aubrey rang the bell. 

“We had a big party after with maybe 40 friends and family members,” said Kristine. “It was a good night for her.”  

A few weeks later, she was deemed cancer-free. 

Today, several months removed from the end of her treatment, 4-year-old Aubrey is doing great. Her monitoring has increased — MRIs every three months for the first year and less frequent every year after — but she’s very much back to her normal self. She’s happy. She’s silly. She’s goofy. She loves princesses and balloons and cannot be stopped. 

“There is nothing that slows her down,” said Kristine. 

Just as Aubrey continues to grow, so has the Cancer Predisposition Program. What started with just Dr. Becktell and Amy, the program now has two genetic counselors, a dedicated nurse practitioner, a nurse coordinator and a psychologist. 

In the four-plus years since it opened, 350 patients have been referred to the Cancer Predisposition Program — 107 in 2023 alone. Of those 350, 89 were found to have a cancer predisposition syndrome diagnosis and are under active monitoring by the team. Including Aubrey, four have developed cancer. All have been successfully treated. 

“Early identification allowed for early intervention and successful treatment,” said Dr. Becktell. 

Knowledge is power 

Genetic testing isn’t an easy decision for all families. Some would rather not know — a positive result and the constant fear would be too much. Some have a mistrust of the medical system in general. Some have concerns about insurance coverage and discrimination. Some just say, “We want to live our lives and we don't want to know.”

But Kristine is grateful. 

“I can't imagine not knowing,” said Kristine. “In Aubrey’s case, without the screenings we wouldn't have found this cancer until it was really large or had spread.”

In fact, it’s not just Aubrey. In 2021, Kristine received a second cancer diagnosis. She had early stage breast cancer. But because of her regular monitoring, it was caught so early she didn’t need any chemotherapy or radiation. Without her genetic test, there is no telling where Kristine would be today. 

“I thought there would be more pushback from families about genetic testing, but it’s helpful that it is becoming more mainstream and most insurance companies are providing coverage for it,” said Dr. Becktell. “The majority of families we meet are interested in getting tested.”

“It’s really scary,” said Kristine, “but for us, knowledge has been lifesaving.”