Health / Health & Wellness

Miriam Masia’s Story – Getting Tested


"Miriam Masia’s Story - Getting Tested" A beach aficionado from an early age, Miriam has spent a lot of time in the sun. Despite a relatively good health history, Miriam has always worked with a dermatologist because of her sun exposure and occasionally had basal and squamous cell skin cancers removed.

Several years ago, Miriam found another bump and went to her dermatologist to have it removed, thinking it was similar to what she had experienced in the past. She was surprised when her dermatologist informed her that she actually had a sebaceous carcinoma, a rare and aggressive skin tumor not related to sun exposure. Not feeling extremely concerned, Miriam had the carcinoma removed. But over the next eight years, she continued to go back, having several more removed at an approximate pace of one every 18 months.

After several incidents of sebaceous carcinoma, her dermatologist suggested that she see an oncologist to test for a genetic mutation. Miriam had a fair amount of cancer in her family but none of the usual colon and ovarian cancers. After receiving approval from her insurance company, Miriam took Myriad’s Colaris genetic test to determine whether she had Lynch syndrome, an inherited predisposition to certain types of cancer.

She was shocked when her results came back positive. A 116-pound, gym-going, non-drinker, Miriam just hadn’t thought that she might be predisposed to cancer. She had never even heard of Lynch syndrome before her test.

Miriam also spoke with her immediate family members and convinced them to take the test. None of her three siblings had the mutation. Her children are 14 and 21 years old, and Miriam wants to have them tested. If positive, they will have to undergo colonoscopies from a young age but that knowledge could save their lives.

Knowing that Lynch syndrome is associated with ovarian and cervical cancer, two years ago, Miriam made the difficult decision to have her cervix, ovaries and uterus removed. “It was hard. I wasn’t planning to have any more children, but as a woman, I’m used to having my period. It was similar to when I packed up my children’s crib and baby clothes, closing a chapter in my life.”

At first Miriam didn’t want to have the surgery. She thought she could manage with screenings every three to four months in addition to her frequent colonoscopies. But her husband convinced her otherwise. “This is your life we’re talking about,” he said. And, they both had worries about ovarian cancer, for which there is no screening.

“Thank God for this test,” says Miriam when asked how this test has impacted her life. “It absolutely enables me to be proactive and to take care of my health.” Miriam believes very strongly in the importance of testing and education. She notes that she has an 82 percent chance of getting colon cancer, which she would not have been aware of without this test and is grateful to have the resources to have been tested and to comply with the screening recommendations.

Miriam also wants more people to know about Lynch syndrome and how to get tested so that they can use this vital information to help prevent colon cancer.

For more information on genetic testing, please visit this link: http://www.myriad.com/treating-diseases/colon-cancer/

 

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