Journal of Palliative Medicine: When a Tumor Becomes a Legacy: A Collection of Perspectives (Ignatius & Tomlinson Labs)
The following is a story in the form of a collection of personal perspectives from our medical team members who treated a young woman with osteosarcoma and worked together to realize her final wish. She not only made an impression on those around her but also greatly impacted the scientific community. Her story starts at her diagnosis and ends with the creation of her legacy, which carries on to this day.
The first time I met Genesis was in the late afternoon on a busy day at the clinic. She came in with her family to discuss treatment after a recent biopsy of a suspicious leg mass, which was confirmed as osteosarcoma. As I walked into the examination room, I was met with a bright smile and she proceeded to tell me about her plans to go to university in the fall, and I, in turn, told her about her treatment course. When Genesis came into my clinic, I did not know what trajectory her personal story would take, but I also didn’t realize how she would eventually change the trajectory of many other people in her position.
At the beginning of her treatment, I found myself looking forward to our encounters where we would chitchat about school and her plans for a Disney vacation later that year. She wanted the vacation to be a surprise for her siblings. Overall, the start of her course was uneventful with minimal side effects.
Then Genesis had surgery to remove the rest of the tumor and I got the dreaded call from the pathologist that no oncologist likes to receive; the chemotherapy did not work as we had hoped. In addition, a computed tomography (CT) scan showed the osteosarcoma had metastasized to her lungs. Genesis then revealed that her biological mother had passed away from osteosarcoma in her 20s, previously not known to us as her extended family had assumed the role of the nuclear family. We tested Genesis and found she had a rare alteration, labeled as a variant of uncertain significance, within the tumor suppressor gene TP53.