Pamela Wiemers and her four siblings experienced so few health complications as adults, they sometimes acknowledged their "good genes" — until the early 2000s.
"In 2004, my sister Linda was diagnosed with advanced endometrial cancer," Pam, now 71, remembers.
Beginning in the inner lining of the uterus, endometrial cancer is one of the more common gynecologic cancers. An estimated 65,950 women in America were diagnosed with it in 2022.
“Thankfully, it wasn’t metastatic, and Linda was successfully treated with surgery and radiation,” Pam says.
Then, in 2012, another sister — Jan — was diagnosed with stage IV colon cancer at 56 years old.
Pam, a registered nurse, worked at a Delaware hospital at the time. When she shared Jan’s diagnosis with a gynecological surgeon colleague, he commented, "You might want to consider being tested for Lynch syndrome."
"I had never heard of it," Pam remembers.
Learning About Lynch Syndrome
Pam wasn’t alone. Though fairly common (affecting approximately 1 in 280 people), Lynch syndrome is not commonly recognized. Previously referred to as hereditary nonpolyposis colorectal cancer (HNPCC), it is an inherited disorder — passed down from a parent — that increases the risk of multiple types of cancer, most notably gastrointestinal and endometrial cancers. People with Lynch syndrome are also more likely to develop cancer before the age of 50 and may develop more than one cancer in a lifetime.
Pam read up on Lynch syndrome but didn’t give it much more thought. After all, neither of her parents (and no relatives other than her sisters) had experienced related cancers.
Then one of Jan’s doctors also questioned whether Lynch syndrome might have contributed to Jan’s diagnosis. Whether it did, we’ll unfortunately never know. Jan passed away in 2015 at the age of 59 without having been tested for the gene mutation.
"After Jan passed, my inner voice told me that our family should undergo testing for Lynch syndrome," Pam says. "But everyone seemed fairly healthy and was busy with life. It just sort of slipped us by."
The Road to Penn Medicine
In 2016, Linda, the sister who had survived endometrial cancer, needed medical treatment for a traumatic injury. During the course of treatment and recovery at her local Delaware hospital, x-rays revealed multiple large gastric polyps. A subsequent esophagogastroduodenoscopy (EGD) of her stomach concluded that the polyps were benign. Still, Linda decided to get clarity on the question of whether she might have Lynch syndrome, which could be a contributing factor.
Because her Delaware hospital network is affiliated with Penn Medicine, she underwent genetic testing through Penn Medicine’s Gastrointestinal Cancer Genetics Program in 2017. It confirmed that Linda did, indeed, have a PMS2 gene mutation, which causes Lynch syndrome.
"When Linda tested positive for Lynch syndrome, my two surviving siblings and I decided to undergo testing, too," Pam remembers.
Like Linda, Pam chose Penn Medicine. Genetic Counselor Jessica Long, MS, CGC, worked with her on her genetic testing and counseling. Pam was impressed with more than just the medical expertise.
"Everyone at Penn Medicine, from the elevator attendants to the information desk staff to the doctors — they were all noticeably wonderful, caring, and helpful."
A few weeks later, Jessica called Pam with results:Pam, like Linda, has a PMS2 gene mutation — Lynch syndrome.
The two remaining siblings tested positive, as well.
"I’m not an excitable person, so I didn’t have a lot of anxiety about the results," Pam remembers. "I thought of it as helpful information."
Pam immediately pursued risk management with Penn Medicine physicians experienced in Lynch syndrome, including Bryson Katona, MD, PhD, the Director of Penn’s Gastrointestinal Cancer Genetics Program. She made arrangements to have her fallopian tubes and ovaries removed (sometimes recommended for women with Lynch syndrome; Pam had already undergone a hysterectomy, which is also recommended).
Then, just before her pre-operative appointment, Pam’s urine appeared dark and her stool was clay-colored. She began experiencing indigestion and strange itching. Her primary care doctor in Delaware ordered immediate lab work and an ultrasound. When tumor markers for cancer came back high, Pam called Penn Medicine — who saw her the very next day.
Pam had pancreatic cancer.
It’s not fully clear whether her cancer is a byproduct of Lynch syndrome, but there’s a chance it is.
Luckily, knowledge of Pam’s Lynch syndrome diagnosis and Pam’s own attentive actions enabled her cancer to be diagnosed at an early stage. Still, the Penn Medicine team moved quickly. Penn Medicine surgical oncologist Robert E. Roses, MD, accompanied by nurse practitioner Caitlin Perch, DNP, CRNP, oversaw Pam’s Whipple procedure. Known clinically as a pancreaticoduodenoctomy, the procedure removes cancerous tumors within the head of the pancreas.
About four weeks later, Pam began chemotherapy with medical oncologist Mark H. O’Hara, MD and his nurse practitioner.
Although visits to Penn Medicine entail a 2-hour drive each way from Pam’s Delaware home, she never regretted the decision.
"I can’t say enough about Dr. Roses, Dr. O’Hara, Caitlin, Abby, and Penn Medicine as a whole," Pam gushes. "Right away I noticed the excellent communication and the easy access to my specialists. MyChart by myPennMedicine lets patients reach out to our doctors at any time for a quick response."
Pam ultimately finished chemotherapy closer to home, in Delaware, in late 2018. A small cancer recurrence in 2020 was also successfully treated through chemotherapy.
Looking Forward
Today, in her quest for early detection, Pam remains an active patient at Penn Medicine. In addition to tumor marker testing every four to six weeks in Delaware, she sees both Dr. O’Hara and Dr. Katona annually for preventative screenings and check-ins.
Pam’s siblings have also made screenings a habit. Pam’s brother received an adenocarcinoma diagnosis a few years ago; it was discovered early thanks to proactive detection, and successfully treated.
In 2021, Pam attended Penn Medicine’s Lynch Syndrome Symposium, where she learned more about research and where she shared her gratitude for Penn Medicine.
"I would like to express my immeasurable appreciation for the unimaginable ways that you have benefitted all of us and our families," she said to attending researchers, physicians, and donors in a touching moment at the microphone, speaking on behalf of all Lynch syndrome patients.
When she encounters people in need of medical treatment, Pam points them to Penn Medicine (“It’s your best chance for the most industry-leading recommendations.”). She also encourages anyone with a family history of gastrointestinal cancers to consider genetic testing at Penn Medicine.
"I have a very strong faith in God and believe He gives us the discernment and intellect to be proactive. Genetic testing is a way to do that. After all, knowing you have Lynch syndrome lets you get one step ahead of its possible repercussions."