Courtney's Story: Li-Fraumeni Syndrome and Osteosarcoma

Courtney suffers from Li-Fraumeni syndrome, a rare condition caused by alterations in TP53, a very important tumor suppressor gene. Half of individuals with Li-Fraumeni will develop cancer by age 45, with tumors beginning in childhood and adolescence.


Courtney's Story: Li-Fraumeni Syndrome and Osteosarcoma 

Abby Green, MD: So Courtney is just –– she takes your breath away. She is so mature and so graceful in the way that she takes any sort of news, good or bad. She is a shining light in this hospital.

Lyndsy Wittmer, RN: I still remember the first day that I met her, again, a week after her diagnosis. And, you know, in the morning you come in, and you get your bedside report about what's going on with the patient, their history, what's brought them to the hospital that day. And I specifically remember taking a couple of moments to just gather myself to learn of the circumstances that this patient, Courtney, had overcome.

Courtney: When I was in about the fifth grade, my mom got really sick. I remember her sitting us down, my younger brother and my older sister and I, and she was like, "Guys, I want you to know that no matter what, I love you. But I have cancer." And then, like a year after my mom's diagnosis, my sister, my older sister –– she was 16 at the time –– she had a seizure. And she was brought here to CHOP. They gave her a head scan, and she had cancer.

Abby Green, MD: Courtney's case is unusual because of her underlying disease. Courtney has Li-Fraumeni syndrome, which is a hereditary cancer predisposition. So Courtney's mother and her older sister also had this condition.

Kim E. Nichols, MD: When a genetic condition such as Li-Fraumeni syndrome is identified within a family, there is a one-in-two chance that an individual who carries an altered gene copy will transmit that genetic alteration to future children. It's estimated that approximately 60 to 80 percent of patients with Li-Fraumeni syndrome will develop a tumor by the age of 80 years.

Abby Green, MD: The first day I met her, you know, her mom had died a month before. She'd been having this pain in her leg for several months that she'd been trying to ignore because she had other things to worry about.

Courtney: Dr. Green was my oncologist. She walked in. She introduced herself, and she said, "I'm sorry, but you have osteosarcoma, a type of bone cancer." Then it all started.

Abby Green, MD: For Courtney's particular kind of stage and type of tumor, she got 30 weeks of chemotherapy and, in the midst of that, had a large resection, or surgery, to remove her tumor and to repair the bones that were then damaged.

Courtney: My tumor was, like, under my kneecap, and so Dr. Dormans removed about half of my femur. And I had a full knee replacement, and a piece of my tibia, they were replaced with a titanium prosthetic. I tell all my friends that I'm bionic.

Lyndsy Wittmer, RN: I still remember that first weekend, getting her through the chemotherapy. And her brother Reggie had come that weekend because it was his birthday, and Courtney didn't feel great, but you would never, ever have guessed it with how she was present in the moment and just really enjoying that time to celebrate and –– I'm in awe of her.

Kim E. Nichols, MD: This is a condition that is unfortunately passed down through the generations, so some might be affected and some not. And we saw that in Courtney's family because her brother Reggie, who we tested, you know, did not inherit the genetic change from his mom.

Courtney: When I was originally diagnosed, I looked for strength in the only place I had left, which is my younger brother. And I knew that if I wasn't here anymore, he would be by himself. And I just –– couldn't leave my brother alone, so I knew that if it ever came to me fighting or giving up, I had to fight.

Abby Green, MD: People ask me all the time why I do pediatric oncology. It sounds so sad to people that aren't kind of part of the medical field. But I think the secret is that it's really the most hopeful thing you can do. I mean, we have a fantastic cure rate. Here at CHOP and in the United States, for childhood cancers, the vast majority of children survive their cancers. So as lucky as I am to know Courtney, as CHOP is to have Courtney here, Courtney is also lucky to have CHOP.

Courtney: I have a lot of good people, people that care about me and my health, that are watching my back, and I trust them to make sure I'm okay. I'm done. I'm nine months out of remission. I haven't been inpatient in nine months, but I still always find a reason to go back just to see everyone here in the hospital because they're all so special to me.

Kim E. Nichols, MD: It's very difficult to predict if another cancer will occur, when another cancer will occur. And Courtney recognizes that it is certainly possible, and, you know, I think, together, we'll have to work as a team to handle that moment should it arise.

Courtney: All the amazing nurses here, they inspired me. So in September I'll be going to St. Joseph's University to start studying nursing.

Abby Green, MD: I'm endlessly proud of Courtney, and I'm so excited that she wants to do pediatric oncology nursing. I've told her many times, and will continue to tell her, that one day we're going to work together.

Topics Covered: Li-Fraumeni Syndrome, Osteosarcoma (Bone Cancer in Children)

Related Centers and Programs: Cancer Predisposition Program, Cancer Center