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Li-Fraumeni Syndrome and Osteosarcoma: 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. 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. Courtney suffers from Li-Fraumeni syndrome, as did her mother and sister. It is 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.

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