How BRCA Mutation Guides My Personalized Pancreatic Cancer Treatment Journey
In June 2019, Chris Treubert, a 51-year-old man, received a life-altering diagnosis: stage IV pancreatic cancer with metastasis to his liver and spine. This shocking news came after enduring two years of unexplained back and abdominal pain, initially dismissed as gastritis. After a severe episode of pain led him to the emergency room, a CT scan and subsequent biopsy confirmed his worst fears—cancer lurking within his body.
Beginning of a New Journey
Following his diagnosis, Chris sought treatment at Regional Cancer Care Associates, where he met with Dr. Bhavesh Balar. During this time, genetic testing was initiated, but results took over two months to arrive. Feeling the urgency of his situation, Chris reached out to Memorial Sloan Kettering Cancer Center (MSKCC) in New York. Within a week of his inquiry, he was under the care of Dr. James Harding, who prescribed a chemotherapy regimen combining gemcitabine and cisplatin—a treatment that he followed for approximately six and a half months.
As the results of his genetic testing came in, Chris learned he had a BRCA2 mutation. This critical information led to a change in his treatment plan; he transitioned to Lynparza, an oral chemotherapy taken twice daily. Unfortunately, by March 2021, scans revealed renewed growth of the cancer, prompting a shift to FOLFIRINOX, a more aggressive therapy.
Ongoing Challenges and Pain Management
Chris continues to receive his treatment at MSKCC, utilizing local facilities in Middletown, New Jersey, for imaging while still consulting with Dr. Harding in New York. Despite battling ongoing abdominal and back pain, along with side effects such as nerve and joint discomfort, Chris has managed to maintain his work commitments throughout his treatment journey.
The Significance of the BRCA Mutation
Upon discovering the BRCA2 mutation, Chris took proactive steps to inform his family. His father tested negative, suggesting the mutation likely originated from his late mother. In a ripple effect, Chris encouraged his three children to undergo testing, revealing that his youngest daughter is a carrier. Additionally, family members, including his brother’s daughter and several cousins, have been tested, with some opting for preventive measures against breast and ovarian cancers.
While Chris expressed gratitude for his family’s willingness to undergo genetic testing, he voiced frustration that awareness surrounding inherited mutations often hinges on public figures. He believes that more dialogue is needed to illuminate the risks associated with these genetic markers.
Chris Treubert passed away four and a half years after his initial diagnosis. As a courageous advocate for family health, he promoted genetic testing and awareness within his family. His legacy serves as a reminder of the importance of understanding one’s medical history and the potential risks that lie within.
The Importance of Family Medical History
Understanding your family medical history plays a crucial role in managing health risks. It can help identify patterns and hereditary conditions that may impact future generations. To learn more about the significance of family history in relation to genetic mutations, check out our resources.
Learn more about the critical role family history plays in cancer prevention and awareness.
