In early April, our sweet girl was reading a book in the library when she looked up, let out a cry, and went limp in my arms. After several terrifying days, a tumor was found in Scarlett’s colon. The tumor was blocking her bowels and causing damage and pain. She was taken into surgery and after our first pathology report, it was discovered that her tumor was actually a rare neoplasm. This meant Scarlett’s tumor had the ability to spread, grow, and gain access to her blood stream. At the advice of her doctors, Scarlett had several surgeries to remove the entire neoplasm, a section of her colon, and its surrounding lymph nodes. We were hopeful that the surgeries would end our battle.
Yet, much to our dismay, Scarlett’s uniqueness didn’t end there. DNA Sequencing showed that her neoplasm contained 13 different mutations including: the RAF1 gene (cancer gene), loss of the CDKN2A/B gene (tumor suppressing gene), and a rare fusion of the TMF1 and RAF1 genes (a fusion unknown to medical literature). Overnight, our normal two-year-old became a research paper. She was no longer rare, she was one-of-a-kind.
As Scarlett’s condition is brand new, her Oncologists do not know what her tumor will do and how her disease will behave in the future. There are no other patients, no prognoses, or treatment plans. All we can do is watch and make decisions as problems arise. As you can imagine, as a parents this is quite scary. We are always on edge and always looking for ways to end this battle once and for all.
In the meantime, in order to keep Scarlett safe, she must be hospitalized and scanned every few months to monitor her body’s progress. We search for tumor regrowth, new tumors, and the disease’s origin spot. I say the origin spot, because the tumor in her colon did not contain colon cells. This means, the disease didn’t start in her colon. Where did it start? Her team sadly does not know. Childhood Cancer research and funding is limited (only 4% currently) and much of the technology they need does not exist. So please, petition for more funding, donate to Children’s Hospitals, and pray for more answers for these sweet kids.
In early October, we had our first round of scans completed. Scarlett had a really hard time with them. She is beginning to fear anything and everything that reminds her of hospitals. Yet, she passed her scans and tolerated her colonoscopy cleanse quite well. She was so happy to be able to come home. There were a few areas to watch, but we were overjoyed to be released.
Sadly, we will never know if or when this monster will come back. We will never know what it is planning or how it will affect our lives in the future. All we can do is pray and hope that answers are found.
Scarlett’s team is currently writing a paper about her and giving her disease a name of its own. We hope that as this paper becomes published, people begin to work together and find better options and others affected.
After all, it is a big world and we cannot believe we are alone. We are hoping to find others with the same genes or colonic neoplasms/sarcomas. With that being said, if you or someone you know has a similar journey, please reach out. We would love to learn more and discover how to better support our precious Scarlett in the future.
All our love,
The James Family