Transforming My Life: How My BRCA2 Mutation Became Both a Challenge and a Lifesaver
A Journey Through Pancreatic Cancer: Dr. Sharon Seibel’s Story
In March 2012, Dr. Sharon Seibel faced a life-altering diagnosis: pancreatic cancer. Accompanied by her husband, Mache, the couple experienced a whirlwind of emotions—disbelief, fear, and sorrow engulfed them as they grappled with the harsh reality of her condition. As seasoned medical professionals, they knew the grim statistics surrounding this disease. Swiftly, they began exploring the most effective treatment options in a race against time.
The Surprising Connection: BRCA2 and Pancreatic Cancer
Dr. Seibel had undergone genetic testing due to her family’s history of ovarian cancer. When her results indicated a BRCA2 gene mutation, she took proactive steps—removing her ovaries and tubes and committing to regular screenings for breast cancer. However, she hadn’t fully grasped the implications of her BRCA2 status regarding pancreatic cancer. Research now indicates that individuals with this mutation may face a significantly increased risk—up to 82 times for men and 14 times for women. Reflecting on her experience, Dr. Seibel realizes that her persistent gastric reflux might have been an early warning sign.
Dr. Seibel’s decision to consult her internist, rather than dismissing her new symptoms, proved pivotal. Following an annual check-up just months earlier, she noticed alarming changes: rapid weight loss, fatigue, and lighter, floating stools. Her doctor promptly referred her for an abdominal ultrasound, which revealed a dilated duct. A subsequent CT scan confirmed her worst fears—a tumor at the head of her pancreas.
Navigating Treatment: Chemoradiation and Surgery
Determined to fight, Dr. Seibel reached out to Dr. Carlos Fernandez, the surgeon who had previously treated her father. She personally delivered her scans to Mass General Hospital, where a consultation was quickly arranged. Following Dr. Fernandez’s advice, she underwent an ultrasound-guided biopsy, which confirmed the diagnosis of pancreatic adenocarcinoma.
Next, a staging laparoscopy was performed to check for metastases, which thankfully were not present. This allowed Dr. Seibel to qualify for proton beam radiation therapy. Participating in a Phase II study at Mass General under the guidance of Dr. Theodore Hong, she received five doses of this innovative treatment. While the therapy was manageable, she chose to discontinue hydroxychloroquine due to nausea.
A few weeks after her radiation therapy, Dr. Seibel underwent a Whipple procedure performed by Dr. Fernandez. Following her recovery, she learned that chemotherapy was essential due to the discovery of a positive hepatic artery node.
Personalized Chemotherapy: The Role of BRCA2
Having witnessed her father endure a challenging treatment regimen, Dr. Seibel sought a different path, leveraging her genetic insights. With her BRCA2 mutation, she opted for an alkylating agent, a choice informed by the understanding that such cancer cells possess defective DNA repair mechanics. This approach was expected to be effective, albeit with potential bone marrow toxicity.
One month post-surgery, Dr. Seibel began her tailored treatment. Her peripheral stem cells were collected and preserved, enabling a subsequent infusion after her chemotherapy doses.
Today, four years later, regular imaging—including CT scans and MRIs—shows no signs of disease. Dr. Seibel reflects on her journey, recognizing that her BRCA2 mutation turned out to be both a burden and a blessing. She emphasizes the importance of raising awareness about the BRCA2 mutation and its link to pancreatic cancer, advocating for proactive screenings that can catch this disease at a treatable stage.
Taking Action: The Importance of Awareness
Dr. Seibel’s story serves as a reminder of the critical need for awareness and early screening for those with a BRCA2 mutation. She encourages individuals to consult experts in pancreatic cancer and consider regular imaging tests, as early detection can significantly improve outcomes.
By sharing her personal experience, Dr. Seibel hopes to inspire others to listen to their bodies and seek medical advice when it matters most. The journey through pancreatic cancer may be daunting, but with timely intervention and informed choices, there is always hope.
