RIDGWAY — A mother and daughter of Ridgway have gone through an extremely trying last five years, having both been diagnosed with cancer following the discovery of a rare hereditary mutation in their family.
Lori Herzog said her family has a long history of stomach and breast cancer, having lost her grandmother to stomach cancer and multiple aunts to breast cancer. Seeing this trend, she dutifully took her mother for routine checks for breast cancer, but still lost her to the disease when Herzog was just 21 years old.
“My mom and I were best friends, we were so close. I remember her getting this tumor, and I just kept telling myself it’s just going to go away,” Lori said.
This caused her to be even more careful with her own health, starting routine exams for breast cancer much earlier than what is recommended for most women. She has four daughters she was determined to be here for.
In 2017, her gynecologist referred her to have a genetic test done because of the long history of familial cancer. Not knowing what to expect from the test, she was shocked to find out she has a rare genetic mutation linked to a predisposition to rare kinds of both stomach and breast cancer.
“They moved straight into finding new doctors when they found that because this cancer is so aggressive and so rare that once you get the diagnosis, basically, you’re going to definitely get breast and stomach cancer at some point in your life,” Herzog said.
The mutation is in the CDH1 gene, which brings with it about an 80 percent risk of developing a rare stomach cancer and about a 60 percent risk of developing a hard-to-detect breast cancer, according to Johns Hopkins Medicine. Both cancers don’t form the typical tumors associated with cancer and are difficult to detect with routine screenings.
Both Lori and her daughter, Kali, were diagnosed with hereditary diffuse gastric cancer (HDGC), an aggressive stomach cancer with about a 15 percent survival rate once diagnosed. Those with the CDH1 mutation have an increased risk of diffuse gastric cancer, compared to a less than 1 percent chance in people without the mutation.
Those with the CDH1 mutation are at higher risk of developing lobular breast cancer as well, and once diagnosed with stomach cancer, it is almost certain breast cancer will develop.
After finding out about the mutation, and the knowledge that she would likely develop breast cancer at some point, Lori decided to have a double mastectomy done. Doctors tested the tissue for cancer after the procedure and found she already had breast cancer forming in one spot.
“With the CDH1 mutation, the cancer doesn’t form masses, it doesn’t form tumors like your typical cancer patient. It grows in the lining. That’s why it makes it so hard too, because there’s no mass. It’s not going to show up on a mammogram. You have to get an MRI,” Kali said.
The diagnosis also led to regular biopsies of Lori’s stomach. One week before Thanksgiving in 2018, Lori got the call from one of her doctors in Pittsburgh that she had stomach cancer. She had to set up for a gastrectomy, or stomach removal, which was a six-hour surgery.
Lori said many people think a person can’t live without their stomach, but that it is possible. Once the stomach was removed, doctors connected the esophagus directly to the small intestine. Lori and others who have a gastrectomy done have to eat smaller meals more frequently throughout the day since the stomach is no longer there to “store” food as it is digested.
“It’s a lot of trial and error,” Lori said. “Everything has to be cut up real super small because you almost get overwhelmed… Our meals have to be real little and we’re supposed to eat six times a day.”
Following the surgery, Lori dropped down to 88 pounds because of how difficult it is to maintain weight once the stomach is removed.
After getting the diagnosis and learning how difficult the detection was, Lori approached her four daughters about getting testing for the mutation as well. Doctors recommend a person be 20 years old before getting tested, so one of her daughters could not yet be tested.
Kali said she had no interest in being tested for the mutation while she was in her 20s, seeing it as “a death sentence.” Lori said she continued to encourage and persuade her to get the test the entire time.
“I was dead set on not getting the test at all. I said, ‘I’m not doing it because I’m not getting my death sentence in my 20s,’” Kali said. “Then I became a mom, and once I became a mom that changed everything. I decided I need to know whether I have it because then I can start doing what I need to do to make sure that I don’t get the cancer. That I’m here to watch my kid grow up.”
She found out in November 2020 that she also had the CDH1 mutation. She was so confident she wouldn’t have it she didn’t take anyone to the appointment with her. Kali said this experience didn’t feel real and didn’t sink in during the moment.
Once she was found positive for the mutation, doctors immediately scheduled her for an endoscopy. On Jan. 8, 2021 doctors said 26 of her 60 biopsies came back positive for cancer and a gastrectomy was scheduled. Kali had her stomach removed just like her mother on Jan. 26.
She had just turned 24 and her son, Roman, had just passed his first birthday.
“Everything moved fast. I wasn’t expecting to get a positive, I was really optimistic,” Kali said. “I haven’t been diagnosed with breast cancer, but I decided to do the prophylactic because since I got one, it’s inevitable I’ll get the other one, and I just figured I’m young, my son’s young. I’d rather get it all taken care of now so that I have the rest of my life to live… And he’s young enough now that he’s not really going to remember. It just scares me that I could’ve passed it on to him, and if I did, he has a 70 percent chance of getting it.”
This is exactly what Lori has already had to go through with Kali getting diagnosed, something she is emotional about.
“It was devastating. I almost felt responsible, but I felt that we had each other and we would get through this because she had me that went through all this already. But it was just devastating. It’s like you’re never the same again,” Lori said.
She talked about the extensive hours and days dedicated to making trips to Pittsburgh for their specialists and appointments, and days spent recovering.
Lori getting the gene testing done when she did is arguably a large part of what saved Kali’s life, having developed the HDGC so early in life.
“If I wouldn’t have gotten tested and I wouldn’t have gotten my scope and stuff done I’d be dead because I would’ve found out too late,” Kali said.
Doctors told the family the surgery would be about three hours long, but once in surgery, they found the cancer was also in Kali’s small intestines and esophagus. The three-hour surgery turned into eight and half hours.
Kali spent four months after surgery connected to an IV bag for 12 hours a day to get enough nutrients.
It wasn’t until she started the process of her bilateral mastectomy that the situation began to sink in. Lori agreed that this surgery was more mentally taxing than the stomach removal. The pair think it’s because the stomach removal is internal, while the mastectomy was changing how they saw themselves externally.
Kali just had the mastectomy about a month ago, and is still unable to work after a year of not working due to her stomach cancer and surgery.
“At least now I don’t have to worry about it. This is my second chance at life, that’s how I look at it,” Kali said. “I’m not going to let this knock me down.”
Both Lori and Kali donated their stomachs to be used in research. They will continue to get CAT scans to check that everything internally is OK, and they have to go through throat dilations every six months where they also get biopsies done.
A Polish Dinner fundraiser has been planned for Sunday, March 13 at the Ridgway Eagles to benefit Kali as she moves forward with her recovery. The cost is $12 for three pierogies, haluski, a cabbage roll, and desert. The event starts at 11 am Baskets to be auctioned can also be dropped off at the Eagles at 339 N. Broad St., Ridgway.