Bloating Leads to Colon Cancer Diagnosis and BRCA2 Mutation Discovery for Ohio Woman

At the age of 37, Marisa Stachelski’s life took a dramatic turn when she began experiencing gastrointestinal issues marked by persistent bloating, abdominal pain, and visible blood in her stool. Initially attributing her discomfort to dietary choices, Stachelski sought help from a dietitian to eliminate gluten and dairy from her meals. Unfortunately, the bloating persisted, and her condition worsened.

“On several occasions, I found myself curled up on the couch in pain, unable to move,” Stachelski recounted. After a stool test revealed traces of blood, she was referred to a gastroenterologist who performed a colonoscopy. This procedure uncovered a cancerous polyp. As the holiday season approached, she faced a harrowing wait for an oncologist’s appointment to determine the cancer stage and treatment plan.

The beginning of 2023 brought devastating news: Stachelski was diagnosed with stage 1 colon cancer. Fortunately, because the cancer was caught early, she underwent surgery to remove the tumor without requiring additional treatment.

In the wake of her cancer diagnosis, her oncologist recommended genetic testing to assess her risk for hereditary cancers. Stachelski underwent testing, expecting a routine check-up, only to receive shocking news weeks later: she tested positive for a BRCA2 gene mutation, which significantly heightens the risk of developing various cancers, including breast, ovarian, and pancreatic cancers.

“I was completely taken aback. There was no history of breast or ovarian cancer on my mother’s side,” she said. However, she later discovered her paternal grandmother had succumbed to stomach cancer, adding further complexity to her family health history.

With the BRCA2 mutation posing a serious risk, Stachelski faced critical decisions regarding her health. After extensive research and discussions with her genetic counselor, she opted for risk-reducing surgeries, including a nipple-sparing double mastectomy. She also participated in a clinical trial that involved the removal of her fallopian tubes to lower her ovarian cancer risk while postponing the removal of her ovaries.

In the months following her surgeries, Stachelski continued to navigate health challenges, including the discovery of precancerous tissue in her stomach. She maintains regular screenings to monitor her health and remains proactive about her cancer risk.

Stachelski’s journey did not stop at her personal battles; she also sought to empower others through advocacy. After sharing her experiences on social media, she was approached by individuals inspired to prioritize their health. This prompted her to launch a podcast, “BRCA and Beyond,” aimed at raising awareness about genetic cancer risks and sharing resources with those affected.

“While cancer took away my fertility, it also gave me a new purpose,” Stachelski shared. Today, she collaborates with several nonprofit organizations to further educate and support those facing similar challenges, transforming her personal struggle into a powerful tool for advocacy and healing.