Life with Li-Fraumeni syndrome

On the first day of school, 16-year-old Darcey Boucher carefully laid out what she was wearing: black jeans, a white T-shirt, black sweatshirt, white Vans — and her wig.

Darcey has osteosarcoma, a rare form of bone cancer. She had surgery in May to remove the tumor from her leg. And now, she is on week 18 of 29 weeks of chemotherapy.

But her cancer story doesn’t begin there. It begins with Li-Fraumeni syndrome (LFS), an inherited condition that predisposes Darcey to rare types — and wide ranges — of cancers. LFS is associated with a tumor-suppressor gene, known as TP53. The resulting protein is rendered useless and unable to help prevent tumors from developing.

Unraveling the mystery of a legacy of cancer

For years, Darcey’s dad, Dennis Boucher, a bus driver near his hometown of Peabody, Massachusetts, thought his family was cursed. He says he was angry at everybody, angry at the world.

He had every reason to be.

“When I was 5, I lost my brother from a brain tumor,” he says. “My mother died of lung cancer when she was 50. My sister had a double mastectomy. Then, my oldest daughter, Justyna, passed away last year at 21 — and now, Darcey has osteosarcoma. I haven’t had cancer yet, but I know it’s coming.”

Dennis was tested for LFS shortly after it was discovered his eldest daughter had been diagnosed with phyllodes tumors, a rare cancer of the breast.

He remembers sitting in a room at Dana-Farber Cancer Institute when Dr. Brian Crompton, a pediatric oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, gave him and Darcey the results of the genetic testing.

“I broke down and started crying,” he says. “I didn’t understand exactly what LFS meant or what it was. All these things were running through my head. Is my whole family going to die?”

Darcey handled the news quite differently. She says she didn’t cry, although she did understand the magnitude of the diagnosis. “I remember wondering if they knew how much time we had before we got cancer,” she says.

It wasn’t long.

In February, just weeks before she was due to have her annual head-to-toe MRI — a routine screening for LFS patients — Darcey noticed a lump on her leg.

“Fortunately, Darcey understood the risks associated with LFS and brought the bump to our attention quickly,” says Dr. Crompton. “We diagnosed her with osteosarcoma before it had spread to other parts of her body, making it much more likely her current therapy will cure her from this cancer.”

‘To brave being bald’

It’s unclear what the future holds for Darcey, but if she is afraid, she doesn’t let on. She says she takes each day as it comes. “I don’t have a negative attitude or positive one about it. It’s life. Stuff happens.”

When she arrived at Peabody High School on the first day of her junior year, she decided to go without the wig, “to brave being bald,” she says.

“I thought, why am I going to stress about losing my hair? Dad’s bald. I’m bald. And it’s so much more practical.”

Darcey finds comfort in her friends. They keep her grounded and keep it real, like Sarah, whom she calls, “brutally honest” in the best way possible. She prefers no sympathy. There is no “why me?” in her repertoire.

Her dad, a constant in her life, always by her side, watches in wonder, “She’s stronger than I could ever imagine.”

These days, in her spare time between treatment cycles, Darcey is helping raise LFS awareness by sharing her story with the world and participating in research studies aimed at finding better ways to diagnose cancer early. In this way, she is giving other families like hers a chance to put a name to their family “curse” and participate in cancer screening that may save lives.

Learn more about the Li-Fraumeni Syndrome and TP53 Center.