A mother was lucky to find out she had colon cancer before it spread, but her brush with death revealed hidden health risks that changed her life forever.
When Marisa Stachelski, 39, from New Jersey, began experiencing stomach pain like never before in 2022, she instinctively knew something was wrong.
She visited her local doctor, who referred her for a colonoscopy, a colorectal cancer screening that doctors don’t start recommending until age 45.
His doctor detected a cancerous mass in his colon before the cancer spread to other parts of his body and it was removed.
But her close status led to further testing which revealed she had the ‘Angelina Jolie’ gene, a mutation that dramatically increases the risk of other cancers.
She then made the life-changing decision to undergo a double mastectomy masterectomy to remove her breasts and remove her fallopian tubes, making sure she would be there to see her children grow up.
The mother of two was told that, with her specific genetic mutation, it was not a matter of Yeah would develop cancer again, but when.
Mrs. Stachelski is pictured with her family. She underwent a preventive mastectomy after learning she had the BRCA 2 gene mutation that dramatically increases the risk of breast and ovarian cancer.
Ms. Stachelski is one of about one in 300 American women who has a mutation in one of her two BRCA genes.
It increases the risk of breast cancer by 69 percent and the risk of developing ovarian cancer by up to a fifth.
Mrs Stachelski said: ‘I immediately started researching everything I could about colon cancer and BRCA. I needed to understand what this meant for my health and my future.’
BRCA genes are what are known as “tumor suppressor genes,” which actively produce proteins that prevent cells from growing and dividing too quickly, which is how cancer cells can form. They help repair damaged DNA in cells.
When there are mutations in these genes, their ability to perform these tasks is compromised, leading to genetic instability and an increased risk that cells can divide and grow uncontrollably.
Since it was first discovered in the 1990s that the BRCA gene increases cancer risk, there has been a meteoric rise in the number of women seeking genetic testing to assess their risk.
Coupled with the advocacy of celebrities like actress Jolie, more women than ever are gaining a better understanding of their health status.
Mrs. Stachelski knows that if she had put off a colonoscopy until age 40, when annual screenings are first recommended, she could have died.
The real estate agent and mother of two found out about her colorectal cancer before it spread to other parts of her body. The government recommends that people start having colonoscopies starting at age 45. She believes that if she had not had a colonoscopy at age 39, her cancer would have gone undiagnosed for years.
There is also a growing body of evidence pointing to a possible link between BRCA gene mutations. and colorectal cancer (CRC).
A 2017 study found that one percent of 1,058 CRC patients had BRCA1/2 mutations, compared to the expected 0.25 percent.
Another study in 2021 found that 1.6 percent of 189 CRC patients had these mutations, while only 0.4 percent of 490 healthy older people had them.
In May 2023, a year after doctors found the mass in her colon, Ms. Stachelski met with Dr. Elisa Port at Mount Sinai Hospital in New York City.
It was there that the mother of two learned that, with this specific genetic mutation, a cancer diagnosis was almost inevitable.
“That meeting affected me a lot,” Ms. Stachelski said.
‘This grave warning pushed us to act. With two young children at home, my husband and I knew we had to protect our family. I’m still young, but I know that as I get older, the risk of cancer increases.’
After the mass was removed, Ms. Stachelski decided to undergo more surgeries to reduce her risk of other cancers, including a double mastectomy and removal of her fallopian tubes.
Studies have shown that a preventive mastectomy can reduce a woman’s risk of developing breast cancer. up to 90 percent in high-risk women.
Women with mutations in the BRCA1 gene, such as Hollywood actress Angelina Jolie (pictured in 2021), and the related BRCA2 gene, have a higher risk of breast cancer.
Studies of women who had tubal ligation (tubal tying) or removal to prevent future pregnancies indicate their future risks of developing Ovarian cancer decreased 25 to 65 percent compared to peers
The thought of losing her breasts was difficult to swallow. It can be a destabilizing experience that affects a woman’s sense of self and femininity.
Research from the Dana Farber Cancer Institute, which included women who had mastectomies, found that patients who had a mastectomy scored markedly lower on three measures of quality of life (satisfaction with the appearance of their breasts, psychosocial well-being, and sexual well-being) than patients who underwent breast-conserving surgery, such as a lumpectomy.
The estate agent said: ‘Looking in the mirror after the surgeries was like looking at a completely different person.
‘So in June 2023, I also had a lift and reduction before moving on to my full double mastectomy in November. Finally, in February 2024, I underwent my final reconstruction surgery.’
He is recovering well and has returned to work, but the experience has been challenging. Fortunately, he said, he has a strong support system in his family and his team of doctors at Mount Sinai.
She said: ‘After all, I have realized how precious life is.
“It can change very quickly and that’s why I want to make the most of my time with my family and help others.”