Li-Fraumeni: Strength in Numbers

The syndrome is rare, the implications are daunting. But one life-changing conference at St. Jude empowers families who have Li-Fraumeni syndrome.

By Elizabeth Jane Walker; Photos by Neisha T. Ford Photography and Ann-Margaret Hedges

With his luxuriant hair, engaging smile and lively intelligence, Cyrus Ford draws admirers like a magnet attracts iron. As Neisha Ford listens to her son’s constant chatter and watches him sprint after his big brother, she contemplates the challenges Cyrus has overcome in his three short years of life.

When he was 5 months old, Cyrus was diagnosed with a rare form of pediatric cancer. Neisha and Shawn Ford learned their son also had a rare, inherited disorder called Li-Fraumeni syndrome (LFS). People with LFS have a high likelihood of developing one or more cancers in the brain, breasts, bones, blood, muscles or, in the case of Cyrus, the adrenal gland.

According to Kim Nichols, MD, director of the Cancer Predisposition Division at St. Jude Children’s Research Hospital, half of all individuals with LFS develop some type of cancer by age 30. By age 60, that risk skyrockets to 80 to 90 percent.

Nichols says people with the disorder should learn as much as possible about the condition so they can monitor for cancer and minimize their risk of developing it. She and her colleagues recently hosted the St. Jude Family Conference on Li-Fraumeni Syndrome. It’s the first in a series of events designed for families with hereditary predispositions to cancer.

Jamie Maciaszek, PhD

The wonders of DNA

About 70 percent of LFS patients have changes in a gene called TP53. Jamie Maciaszek, PhD, shows children how to isolate their DNA.

Friendship + knowledge = hope

When the Fords arrived at St. Jude for the conference, they were eager to meet other people with LFS. Ninety-six individuals from 25 families across the nation attended the event. Participants bonded through activities that included a Memphis Redbirds baseball game as well as lectures and interactions with world-renowned LFS researchers and clinicians. Because early detection can save lives, attendees learned about cancer screenings and gleaned tips for leading healthful lifestyles.

“Until this conference, I’d only met two other kids who had Li-Fraumeni syndrome,” Neisha says. “I have an amazing support system, but not knowing anyone else with Li-Fraumeni was really isolating. At the conference, I was able to meet people who’ve had bouts with cancer over and over, and they’ve beat it. I met others who’ve gotten cancer once and never had it again. And some people had never gotten cancer at all.

“It was inspiring and comforting to be around all of those people.”

“I have a huge passion for my work. But after meeting these families, I know we need to do more. It’s important to do more.”

Emilia Pinto, PhD

 

Inspiration and motivation

About 70 percent of LFS patients have changes in a gene called TP53. Emilia Pinto, PhD, of St. Jude Pathology has spent years studying adrenal tumors and this gene in the lab. She performed the genetic tests that uncovered Cyrus’ TP53 mutation, but had never met the Fords until the St. Jude Family Conference.

“It was amazing to see the families together,” says Pinto, who shared her expertise at the event. “They’re all dealing with the same problems and are so supportive of each other.”

Pinto says meeting the participants adds a new urgency to her research.

“I have a huge passion for my work,” she says, “But after meeting these families, I know we need to do more. It’s important to do more.”

Kim Nichols, MD, at a podium

Learning about LFS

Kim Nichols, MD (pictured), says people with Li-Fraumeni syndrome should learn as much as possible about the condition so they can understand how best to monitor for cancer or minimize their risk of developing it.

Looking ahead

Many of the conference’s participants report the experience was life changing.

Neisha says she gleaned valuable tips from a session in which Niki Jurbergs, PhD, of the St. Jude Psychology Clinic offered tips for talking about LFS with children and other family members.

“It’s made a big difference in how we communicate,” Neisha says. “We were walking out the door the other day, and my 4-year-old said, ‘Hey, Cyrus, I’m glad you don’t have cancer anymore, because you’re awesome and you fight the best.’ And Cyrus said, ‘Yeah, I kick cancer’s butt.’ That conversation is possible because of what we learned at the conference.”

“As another St. Jude mom once told me, ‘Nobody is given a good life or a bad life. We are simply given a life, and it is up to us to make it a good one.’”

Patty Leffler

 

Patty and Bob Leffler traveled from Wisconsin with their three children to attend the conference.

“We met people who are dealing with LFS, and dealing with it well,” Patty says. “Some people had been diagnosed four or five times with cancer. That’s hard to hear, but they aren’t sitting around feeling sorry for themselves. They’re getting married and having kids and enjoying their lives and trying to learn more about Li-Fraumeni so that they can continue to live great lives.

“As another St. Jude mom once told me, ‘Nobody is given a good life or a bad life. We are simply given a life, and it is up to us to make it a good one.’”

Learn more about cancer predisposition: stjude.org/cancer-predisposition

From Promise, Autumn 2018

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