New Jersey mom with ‘Angelina Jolie’ gene is diagnosed with young people’s colon cancer after stomach cramps
A mother was fortunate to learn of her 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 knew instinctively that something was wrong.
She visited her local doctor, who referred her for a colonoscopy, a screening test for colorectal cancer that doctors don’t start recommending until you’re 45.
Her doctor detected a cancerous mass in her colon before the cancer had spread to other places in her body, and doctors removed it.
But her close call led to more tests which revealed she had the ‘Angelina Jolie’ gene – a mutation that drastically increases risk of other cancers.
She then made the life-changing decision to have a double mastectomy masterectomy to remove her breasts and removed her fallopian tubes, ensuring that she would be there to watch her boys grow up.
The mother-of-two was told that, with her specific gene mutation, it was not a matter of if she 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 drastically increases the risk of breast and ovarian cancers
Mrs Stachelski is one of approximately one in 300 American women who have a mutation on one of their two BRCA genes.
It raises 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 began researching everything I could about colon cancer and BRCA. I needed to understand what this meant for my health and my future.’
The BRCA genes are what’s known as ‘tumor suppressor genes,’ which actively produce proteins that prevent cells from growing and dividing too quickly, which is how cancerous cells can form. They help repair damaged DNA on cells.
When there are mutations in those genes, their ability to perform these jobs is compromised, which leads to genetic instability and an increased risk that cells will be able to divide and grow uncontrollably.
Since the BRCA gene was first discovered in the 90s to raise the risk of cancer, there has been a meteoric rise in the number of women seeking genetic testing to assess their risk.
Coupled with celebrity advocacy such as that of actress Jolie, more women than ever are gaining a better understanding of their health status.
Mrs Stachelski knows that if she had put off her colonoscopy until her late 40s, when annual screenings are first recommended, she could have died.
The realtor and mother of two learned of her colorectal cancer before it spread to other parts of her body. The government recommends people begin getting colonoscopies starting at 45. She believes that had she not undergone a colonoscopy at 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 study in 2017 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 elderly people did.
In May 2023, a year after doctors found the mass in her colon, Mrs Stachelski met with Dr Elisa Port at Mount Sinai Hospital in New York City.
It was there the mother-of-two learned that, with this specific gene mutation, cancer diagnosis was almost inevitable.
‘That meeting really hit me hard,’ Mrs Stachelski said.
‘This serious warning pushed us to act. With two young kids 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 removal, Mrs Stachelski decided to undergo more surgery to reduce her risk of other cancers, including a double mastectomy and fallopian tube removal.
Studies have shown that a preventive mastectomy can reduce a woman’s risk of developing breast cancer by as much as 90 percent in women at high risk.
Females with mutations in the BRCA1 gene, such as Hollywood actress Angelina Jolie (pictured in 2021), and the related BRCA2 gene, are at greater risk of breast cancer
Studies of women who underwent tubal ligation (tying their tubes) or removal to avoid future pregnancies indicate their future risks of ovarian cancer dropped by 25 to 65 percent compared to their peers
The thought of losing her breasts was difficult to wrap her head around. It can be a destabilizing experience that takes a toll on a woman’s sense of herself and femininity.
Research from Dana Farber Cancer Institute, which included women who have undergone mastectomies, has found that patients who had a mastectomy scored markedly lower in three quality of life measures – 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 realtor said: ‘Looking in the mirror after the surgeries felt 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 had my final reconstruction surgery.’
She is recovering well and back to work, but the experience has been challenging. Luckily, she said, she has a strong support system in her family and her team of doctors at Mount Sinai.
She said: ‘After everything, I’ve realized how precious life is.
‘It can change really fast, and that’s why I want to make the most of my time with my family and help others.’
