Court's first chemotherapy treatment was rough.
She suffered severe nausea and vomiting. “It was
so intense, I wanted to die,” she remembers. During
this time, while visiting his sister at the hospital,
Reginald asked matter-of-factly, “Hey Court, are you
going to die, too?”
“That moment was like a switch went off,” Court
says. “I decided I would do everything I could to
make sure my brother wouldn’t be alone.”
Over the next several months, Court bounced back
and forth between the homes of two of her mother’s
friends and CHOP, where she received chemotherapy
to shrink her tumor. After three months, the tumor
was small enough for doctors to remove. On April 10,
2012, she had surgery on her leg. The tumor on
the head of her tibia was close to the knee, so the
surgeon removed the top of her tibia, the entire
knee joint and part of her femur. Court woke up
from surgery with a total knee replacement and a
titanium femur prosthesis.
The most excruciating part of treatment came
next—rehabbing after surgery. “Courtney had
so much motivation. She pushed through in an
incredible way,” says Green.
Court was used to taking care of herself at
home, so it was hard to accept help from others
for simple tasks like putting on socks or taking a
shower. She began to set small goals for herself,
focusing first on standing, then shuffling a few
feet on crutches to use the commode. “I got so
excited the first time I didn’t have to call anyone to
help me go to the bathroom,” she says. When she had
trouble sleeping, she would spend long hours walking the hallways of CHOP to strengthen her leg.
“My sister is a very determined person—stubborn
sometimes, but in a good way,” says Reginald, who
is now 20 and studying psychology at Drexel
University in Philadelphia. He remembers tough
days during Court’s treatment and recovery that
slowed her down, but she persisted. “She had things
she wanted to do in her life,” he says.
Along the way, the hospital began to feel like home.
The nurses at CHOP became her friends, her support system and her social network. One nurse stuffed
scented dryer sheets around the edges of Court’s knee
brace to lessen the smell of rubber on the brace, an
odor that sickened her while she was undergoing her
final rounds of chemotherapy after surgery.
“They were so generous with their time,” Court says
of the nurses. “They talked to me when no one else
would and listened to me when no one else would, and
they didn’t have to. It wasn’t in their job description.”
She missed a lot of school during treatments, but
still managed to keep up with her 11th-grade classes.
Sometimes, teachers would stop by the hospital after
school to drop off her assignments. Other days, she
would video call into class from a computer.
WHAT IS LI-FRAUMENI
Li-Fraumeni syndrome is a genetic predisposition to several
cancers, including soft tissue sarcoma, osteosarcoma,
breast cancer, brain and central nervous system tumors,
acute leukemia and adrenocortical carcinoma. It typically
runs in families. Physicians and researchers Frederick Li and
Joseph Fraumeni first reported the disorder in 1969. It’s not
clear exactly how many people are affected by Li-Fraumeni
syndrome, but it is extremely rare.
Most people with Li-Fraumeni syndrome have a mutation in
a tumor-suppressing gene known as TP53. “TP53 is sort of
like the guardian of the genome,” says pediatric oncologist
Abby Green of Children’s Hospital of Philadelphia. It signals
cells that contain mutated DNA to “commit suicide” in order
to prevent cancerous tumors from developing. In people with
a defective TP53 gene, mutations can accumulate and tumors
develop unchecked. The disease is diagnosed with a blood test
for the gene mutation.
Roughly 50 percent of people with Li-Fraumeni syndrome
develop cancer before age 40. Many develop two or more
cancers in their lifetime. “Right now, research and care is
focused on how to best screen for cancers in genetically
predisposed kids and treat them early,” says Green. An
ongoing screening study at the National Cancer Institute is
investigating the efficacy of whole-body MRI scanning for the
detection of cancers associated with Li-Fraumeni syndrome.