A food lover faces an unimaginable choice: Give up her stomach or risk a fatal cancer
Enlarge this image
Meredith Miotke for NPR
Meredith Miotke for NPR
«The recommended treatment is stomach removal.»
The genetic counselor pushed a brochure across the desk titled: No Stomach For Cancer. She had long brown hair and kind brown eyes that gently held my gaze as we sat in a Kaiser medical office in Los Angeles.
My body constricted, horrified. My stomach? Surreal images of colostomy bags, IV infusions, a diet of chalky vitamin drinks slipped through my head.
I fixed my eyes on the grayish desk sitting between me and my counselor. If I made eye contact again, I might see that she was looking at me. Talking to me. Talking about me.
She continued. There were people who lived normal lives without a stomach. She had more brochures and papers. There were support groups.
I had just learned I carry a genetic mutation that puts me at an incredibly high risk for a rare stomach cancer. This type of cancer is almost impossible to detect in the early, treatable stages — it lurks in the inner lining of the stomach in a lace-like pattern. By the time endoscopies, which give doctors a view into the digestive organ, can see the webby cancer cells forming, they’ve usually spread to other organs and the disease is incurable.
People who carry this gene mutation, called CDH1, are diagnosed with hereditary diffuse gastric cancer syndrome. A preventative gastrectomy, my counselor explained, would get rid of cells that could turn it into a terminal disease.
Preventative mastectomies are well-known now thanks to celebrities like actor and director, Angelina Jolie, who made headlines when she wrote about her surgery and being a carrier of the high-risk BRCA gene. But a preventative gastrectomy? It was new to me, unimaginable and frankly felt barbaric.
My genetic counselor’s words diluted into indistinct sounds. I was trying to follow, but my mind chattered with outrage and disbelief. I don’t remember if I cried.
I walked out of the office determined to keep my stomach and avoid the cruel solution suggested for this hiccup in my genetic code. I never felt so defensive, so much awe, so much affection for my stomach.
A brief history of my stomach
The bagpipe-like vacuous organ is the repository for so much pleasure. I couldn’t think of a more draconian sentence than losing it — especially for me. Some of my first memories are sneaking olives from the fridge and licking egg beaters clean from whipped cream and cake batter.
The dinner table in our home growing up was always laid with a tablecloth and matching china sets for plates of lightly crisped wienerschnitzel or tomato and pepper layered goulaš or bryndzové halušky, a potato dumpling and sheep cheese dish, all in heavy rotation in my Slovak mom’s kitchen.
My childhood love of eating slowly evolved into a love of gardening, cooking and baking. I regularly buy 50-pound bags of flour, spending hours creating rum and red currant-soaked, checkered cake and berry tarts with pastry cream. I brew hachiya persimmon vinegar or jalapeño soda. I have been accused of having a cookbook buying addiction.
Spending a day dirtying dishes with friends and sitting down to share our spoils al fresco is my favorite pastime. Giving up my stomach would mean severing me from so much joy.
Yet the thought of facing a cancer diagnosis was shatteringly tangible for me. For seven years, I’d watched my sister, a physician, try to hold the threads of her professional and family life together as she struggled with terminal neuroendocrine pancreatic cancer.
I called her immediately when I got my diagnosis. She was between naps; she no longer practiced medicine as her days were filled with radiation, chemo, steroids, anything to buy her time. I cried as she comforted me about a disease I didn’t have.
A nearly missed diagnosis
It was a fluke that I even found out I have CDH1. Because of my family’s history with cancer, I had taken two earlier tests to look for specific gene mutations for cancer — ones that I didn’t end up having.
Media coverage of Angelina Jolie’s double mastectomy and ovary removal has brought a lot of attention to genetic testing but left a narrow picture of the field. In reality there are dozens of cancer mutations that can be tested for, giving people who find out more options to prevent serious or terminal illness.
Genetic testing is often advised if you have a strong family history of cancer. My aunt, my mom and my great grandmother all had breast cancer. So when my doctor suggested a BRCA test back in 2016, I spit into a tube.
A couple weeks later, a report came back that I had tested negative for the breast cancer genes.
My next brush with genetic testing came in 2018, when my sister, who was already several years into her battle with pancreatic cancer, got a full genetic cancer panel. She learned she had MSH2, a genetic mutation more commonly known as Lynch syndrome, which puts you at very high risk for one type of colon cancer, as well as increased risk for several other cancers, though it’s not clear if her cancer is associated with this mutation.
After a long night shift at work, weepy with apprehension, I went to the lab and gave blood and waited. I had a 50-50 chance of having it and the stakes seemed crushingly real.
The genetic counselor called about a week later. I tested negative. I got off the phone and cried with both gratitude and survivor’s guilt.
In the last couple years, with lower prices for genetic tests, it’s becoming more routine to test patients for an entire panel of high-risk mutations at once. But the protocol used when I was going through this was to only test for the mutation another family member had.
So after two genetic tests, I still didn’t know about the mutation I did have.
An unexpected call
The day I finally found out, I was working for Marketplace in downtown Los Angeles. It was March 2019. Brexit was looming and I was leaving streams of voicemails to talk to businesses like banana or tea exporters who might be affected.
Finally the phone rang with an «unavailable» caller ID.
The voice introduced himself as Dr. Richard Frieder, the medical director at Intelegene Cancer Genetics. He’d tracked me down. I wondered, was this a scam? He reminded me of a BRCA test I took a few years earlier.
He told me new research had revealed something in my genes: I was a carrier for another cancer mutation, not the two I’d already been tested for, but the CDH1 mutation.
He said it was urgent. I gave him my email and he sent this immediately:
Hi Alexandra [my legal name],
Here is the amended report, showing the CDH1 mutation. This mutation has significant risks of stomach, colon and breast cancers.
This is VERY important and you need to do 3 things ASAP, all within the next 30 days.
This cannot wait.
I quickly called my genetic counselor and made an appointment. That’s when she told me the recommended treatment was a total gastrectomy. I met with a surgeon, I scheduled a breast MRI, a colonoscopy, endoscopy and stomach biopsies.
I researched medical journals and interviewed doctors — I latched on to any thread of doubt that could save my stomach.
The chances of getting cancer with this mutation vary a lot. Females are at high risk for lobular breast cancer and have a 56%-83% chance of gastric cancer. Men have a 67%-70% chance. My biopsies, scopes and scans saw no signs of disease; I still wasn’t convinced I needed to have an organ removed to stay that way.
It was a suffocating position to be in: to choose a life-altering surgery that is based on numbers and chance.
My paternal grandfather died from gastric cancer in his 40s. My mom’s sister died from it in her 50s after recovering from both colon and breast cancer. This family history puts me at a really high risk. I don’t have information on what kind of gastric cancer they had, so it’s another unknown I had to weigh, because we have two cancer mutations in our family.
But gradually the accumulation of evidence and advice started to sway me.
No matter where you are in the risk spectrum, the recommended treatment for anyone with this mutation in all current medical literature is a total gastrectomy. That’s because there are no screenings that can detect it in early stages when it could be cured.
Carriers of the CDH1 mutation can get an endoscopy every year and get something called the Cambridge protocol where 30 biopsies are taken from the stomach. Even with all those biopsies, doctors often miss the multiplying cells. And by the time it gets to the surface of the stomach where it could be visually observed, it’s often terminal.
There are reports of people with this mutation who get their stomach removed prophylactically and researchers find the beginnings of this cancer in the excised stomach. The cancer cells could only be detected once the stomach was cut from the body.
There are no effective chemo or treatments. Once you get it, it is a fast-moving, insidious disease that often means just months to live.
Coming to a decision
It’s been more than two years since I first was diagnosed. In that time, both my sister and my father have passed. In the wake of pandemic and the grief of loss, opting for surgery is an embrace of life and some days I’m not sure I have the will for such a strong embrace.
But I also know, I watched my sister’s body be devoured by a disease that could have been curable, if it had been caught early. The longer I delay, the chances of a similar fate increase.
In August, I drove to Salt Lake City, met my surgeon in person and picked a date.
Not long after, I spoke with Dr. Frieder, the physician who tracked me down to tell me about my mutation. I asked him what was going through his head when he called me.
«Contrary to what you might think, I was calling you with what I thought was good news, because it wasn’t a destiny. It was an opportunity, an opportunity to save your life.» he said.
I may never know if this surgery saved me from getting stomach cancer. My mom is 78, has CDH1 and MSH2 mutations and hasn’t had stomach cancer. But I would have unfathomable regret, if I did get sick. There are many people who live full, if not altered lives, without a stomach. There are few happy endings with stomach cancer.
Living without a stomach means struggling to get enough calories and hydration every day. The food you eat moves through the esophagus directly into the small intestine where digestion begins. Sugar is harder to break down and vitamin deficiencies can lead to nutritional anemia.
But after a year, many people go back to eating all the things they did before surgery, with small portions and a lot of chewing. My doctor told me I’ll never be able to win an eating contest, but eventually I would be able to get all the pleasure from food I always have.
As the clock ticks down toward my surgery date, I’ve been making and eating anything that delights: chocolate and cream raspberry tarts, whipped cream and berry pavlovas, cream puffs (with more whipped cream, of course) and a lot of cheese: pecorino, burrata, Fromager d’Affinois, and so much feta.
Of course, it’s my mom’s cooking that has given me the most comfort: sviečková, a beef dish made with a sour cream, carrot and celery root sauce served with potato croquettes and cranberries; pork cutlets with wild mushrooms we picked in the forest; dumplings made with sour cherries from our tree and peach and strawberry bublanina, a Slovak sponge cake.
My stomach has had a really good ride these last few months and really my whole life. I’m being given a chance my sister and so many others have not had. I can’t squander that.
Postscript: The writer had surgery on October 19th at the University of Utah Hospital through the Huntsman Cancer Institute.
Sáša Woodruff is the news director at Boise State Public Radio.
- hereditary diffuse gastric cancer syndrome
- gastric cancer
- stomach cancer
- genetic testing