Julia’s* cancer journey began in June 2009 when, at the age of 29, she was diagnosed with uterine cancer—a disease her mother Jane* battled and won years before. At the time of Julia’s diagnosis, Jane discovered she had Muir-Torre syndrome—a form of Lynch syndrome— an extremely rare genetic disease that makes its victims highly susceptible to cancer. Further testing showed that Julia carried the MSH2 mutation, one of the two genes linked to Muir-Torre syndrome.
Julia found hope and answers about her rare genetic mutation at the Abramson Cancer Center’s Gastrointestinal Cancer Risk Evaluation Program from Anil Rustgi, MD, who identified her mutation and created a preventive care regimen, and from Steven Fakharzadeh, MD, PhD, a genetic skin disorder specialist who monitors her skin for mutations that can occur with Muir-Torre syndrome.
Julia’s story didn’t end there. During her treatments, and because of her MSH2 gene, she made the difficult decision to have a total hysterectomy. While this radical procedure took away her ability to have biological children, it led to a diagnosis of early stage ovarian cancer. Fortunately she did not need to undergo radiation or chemotherapy because both cancers were detected early in their most treatable stage.
“I was very lucky,” she explained. “Most women with ovarian cancer do not know they have it until it’s progressed.”
Today, Julia is cancer-free and actively spreading awareness about this complicated, rare genetic mutation that can be a precursor to cancer. She wants to pass on the most important lesson that she took away from her experience— knowledge and preventative care are the keys to survival.
She started with her family, and has already seen positive results. Her uncle who tested positive for Muir-Torre syndrome found a benign polyp during a colonoscopy. At 49, an age below the timeframe for routine testing, he is already benefiting from getting tested early.
“If I helped just one person think twice about their own family genetic makeup or current health status, then I know, despite everything, I made a difference.”
Read Julia’s personal account of her cancer journey here.
To learn how to support research efforts for Muir-Torre syndrome contact, Katie Dewees-Detzel at kdewees@upenn.edu or 215-746-1927.
*Pseudonyms
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