Li-Fraumeni Syndrome: Courtney's Story
At 16, Courtney was no stranger to the way cancer changes lives. She had lost a sister to the disease, and her mother had been battling recurrences for 21 years.
Courtney’s own fight began when her mother’s was ending, with a pain in her knee that kept her from her usual summertime activities. The athletic, energetic high school junior assumed she had a sprained ligament. She put off going to the doctor, focusing her attention on her mom, Crystal.
In the fall of 2011, Crystal entered a hospice, 10 blocks from their home. Courtney walked there nearly every day. It kept taking longer as the pain, and her limp, became more pronounced.
Crystal died on Christmas, at age 41. Through her grief, Courtney realized the pain in her knee had become severe. Within the week, her mom’s friends took her to The Children’s Hospital of Philadelphia (CHOP), where MRI revealed a mass. Then bone biopsy showed Courtney had a malignant tumor.
Often, a cancer diagnosis brings not only grief and worry, but also shock. Courtney felt sadness but no surprise. “Before I heard the news I was trying to be positive, but I knew my family history,” she recalls.
Courtney’s sister, Christina, had been diagnosed with a brain tumor at CHOP in 2006 at the age of 16. As they cared for her, doctors took careful note of her mom’s history: breast cancer at 19 and a soft tissue sarcoma at 35. “That’s when we started to put the pieces together,” Courtney recalls.
The family — Courtney, her younger brother, Reggie, and their mom — met with Kim Nichols, MD, a CHOP oncologist who is a nationally renowned researcher into conditions that predispose children to cancer. Genetic tests provided the answer as to why this terrible disease kept striking the family: Courtney’s mom had Li-Fraumeni syndrome, a rare condition caused by alterations in TP53, a very important tumor suppressor gene. Courtney also had the syndrome; Reggie did not.
Half of individuals with Li-Fraumeni will develop cancer by age 45, with tumors beginning in childhood and adolescence. Courtney has begun preventive monitoring of her breasts and other parts of the body in an effort to detect tumors at the earliest and most curable stage.
Courtney was 13 when her sister died. It was three years until the pain in her knee began. Looking back, she regrets not seeing a doctor sooner. But the pain initially mimicked what she had felt when she sprained a ligament in her other knee. And helping her mom at end of life had consumed all her energy.
When Rochelle Bagatell, MD, the oncologist who directs CHOP’s Solid Tumor Program, told her the tumor was malignant, Courtney silently questioned whether to fight. Then she thought of Reggie, her brother. They had grown up knowing cancer as part of their mother’s life. “We never saw Mom cry,” Courtney recalls. “She tried her hardest to keep us sheltered from it.”
The brother-sister bond grew even stronger in losing their sister and mother. “When my mom passed away, my brother and I were ready because she prepared us so well and taught us to take care of ourselves,” Courtney says. “I don’t know how she did it. I guess it’s just something moms know.”
For Reggie’s sake, Courtney decided to focus on hope as they faced her diagnosis. “Anything in the world that I need, Reggie will do it for me, and he deserves the same from me,” she says. “I had the realization that I had to fight for my life. I wanted to keep going for my brother.”
The next weeks brought great news: The cancer hadn’t spread to Courtney’s lungs. She and her caregivers had meetings with numerous teams, including Dr. Bagatell; Abby Green, M.D., who would become her primary oncologist; and John Dormans, MD, Chief of the Division of Orthopaedic Surgery, who is world-renowned for limb-sparing surgery for children with bone tumors. In most cases, Dr. Dormans and his team can replace diseased bone with a metal endoprosthesis, or even bones from other areas of the body, instead of amputating.
CHOP has the country’s No. 1 ranked pediatric cancer program and the No. 1 ranked pediatric orthopaedics program. Together the teams devised Courtney’s plan of care: approximately three months of chemotherapy to shrink the tumor, then surgery and five more months of chemotherapy.
On January 26, a month after her mom died, Courtney was admitted to CHOP to begin chemotherapy. The tumor, in the proximal tibia (shin closest to the knee), began to shrink. On April 11, Dr. Dormans removed part of Courtney’s femur (the large bone in the thigh) and tibia, drilled holes in the ends of the remaining portions, and placed metal bones and knee.
Courtney went through five more months of chemotherapy as she rehabbed her knee with physical therapists. By August, she was walking the halls of 3 South and East, the oncology floors, without crutch or brace. It was a welcome sight for staff, many of whom first got to know Courtney during her sister’s treatment. “Sometimes I feel like this is my home now,” she says. “I know if I need anything, there is someone on this floor who will do it for me. CHOP has done so much for me, it’s unexplainable. Everyone is there for you. You build a family.”
Courtney finished chemotherapy in September and started her senior year, with plans for college to become a nurse or child life specialist — and work at CHOP. She and Reggie are supported and cared for by friends of their mother’s and family, with help from many others. “There are so many people in the world who love me,” she says.
Her CHOP team has a preventive plan in place, including regular check-ups and scans, so that if cancer recurs, it will be caught quickly. “I had the mindset after my diagnosis that there was no point in doing chemo because there was something in my genes that prevents us from surviving,” Courtney says. “I know now that’s not correct. My family and friends and everyone at CHOP helped me see that. I’ve come to terms that I will probably get cancer again in my life, but I know I can fight. If someone is coming into diagnosis and is thinking ‘I can’t do this’ … You can. You never know how strong you are until you have to be that strong.”
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