Guest Post: How living without a stomach and knowing my genetic disposition saved my life

When I was in high school, I went on a date with a really cute girl. We watched a movie in her basement. I have no idea what movie we watched but I do remember having a great time.

Unfortunately, things didn’t work out. I’m not sure why. Probably because I was a teenage boy and extremely awkward. However, it’s best things didn’t work out. Don’t get me wrong. Had things worked out, I would have no doubt overachieved in the relationship department. However, if things had worked out, our kids would likely have been genetic disasters.

As it turns out, she carries the BRCA mutation. The BRCA mutation comes with a high risk of developing breast and ovarian cancers. She went on to have a double mastectomy in her 20s and her ovaries removed in her 30s. In fact, she and her sisters wrote a book about it. They also published this website!

Interestingly enough, I carry a genetic mutation, as well, a CDH1 mutation. CDH1 mutations are associated with a high risk of developing diffuse gastric cancer and, for females, lobular breast cancer. In order to prevent stomach cancer, I had my stomach removed. No stomach means no chance of developing stomach cancer. If I were female, I would also likely have a double mastectomy. If not, I would have to undergo rigorous monitoring of my breast tissue and deal with the mental challenges of knowing that I have significant risk of developing breast cancer.

I can’t help but think, what if our date eventually led to marriage and kids without knowing our genetic risks? Our kids would have had a high risk of being doomed with cancer risks. Not just from one pathogenic genetic mutation, but two! In fact, I know a family where one spouse has a BRCA mutation and the other a CDH1 mutation.

You have very likely heard of the BRCA mutation. It’s been in the press over the last decade or two for many reasons. You may even have family or friends who carry a BRCA mutation. In contrast, most people have never heard of CDH1 mutations and cancer risks associated with them. Even more, many people have never heard of total gastrectomies and people living without a stomach. Actually, it’s common for people to think that the stomach is a vital organ. Plus, many people have strong emotional connections to food and associate the stomach with that emotional connection.

Turns out, however, you can live without a stomach. You may be wondering how. Although the first year after the surgery was challenging, life without a stomach is not too different from life with one. The major differences lie in how and what I eat. I eat smaller and more frequent meals. Plus, I focus on calorie-dense foods that are low in added sugars. Also, softer foods like noodles and sweet potatoes are much easier to digest. I do have to regularly monitor my blood to make sure my body is absorbing enough nutrients, especially vitamin B12 and iron.

Despite these and other modifications, having my stomach out is worth it. Before I had my stomach removed, I had a 40-70% chance of developing diffuse gastric cancer by the age of 80. Females have a similar risk of developing diffuse gastric cancer. Plus, females have a greater than 40% chance of developing lobular breast cancer.

Despite the significant risks some genetic mutations pose, in mainstream news outlets, genetic testing is somewhat controversial. At the heart of the controversy is whether people should have access to a person’s most private information -- their genetic code. Also at the heart of it is whether you should trust non-medical genetic testing results from companies like 23andMe and when making health decisions.

However, what I don’t hear much about in those conversations is how genetic testing can dramatically change lives for the better. Genetic testing can prevent individuals, and even entire extended families, from developing fatal diseases. Moreover, genetic testing is one way to help reduce the prevalence of certain cancers. For instance, by combining genetic testing and embryo screening, families can plan for future generations to be born without the cancer-causing mutations. Plus, people can have surgeries -- like total gastrectomies and mastectomies -- to prevent disease occurrence.

So why isn’t genetic testing more routine? Why are people not demanding that everyone get tested for gene mutations associated with cancer? Shouldn’t we all know -- or at least have the option early in life or early in adulthood -- to know whether our genes predispose us to a high risk of early death or miserable disease?

It would have saved my mom’s life. Doctors diagnosed my mom with diffuse gastric cancer when she was 62 years old. At that time, we had no idea about our family’s CDH1 mutation. Her father, also a CDH1 mutation carrier, lived into his late 80s and died of causes unrelated to the mutation.

In theory, my mom’s disease and death were preventable. In the late 1990s, researchers discovered the connection between CDH1 mutations and diffuse gastric cancer. Since then, total gastrectomy has been the recommended course of action for those who are healthy enough to undergo surgery. Although the surgery has risks, the survival rate is very high and complications post-surgery tend to be relatively low and minor compared to the problems caused by diffuse gastric cancer. Therefore, before my mom’s cancer developed, total gastrectomy was a viable option for her. If only we knew about her CDH1 mutation.

And we could have known! For years, genetic testing has been affordable and accessible. Plus, my mom had a cousin who died young of diffuse gastric cancer. Therefore, all the technology and information existed. We just were not able to connect the dots until it was too late. Instead, my mom had been monitoring herself for breast cancer most of her adult life because her sister had breast cancer in her young adulthood. Turns out my mom was monitoring the wrong organ.

Had genetic testing been more routine for healthy individuals, my mom might have learned before she developed her disease that she had a significantly high risk of developing diffuse gastric cancer and lobular breast cancer.

Because my mom discovered our family’s genetic mutation, at least 6 of us have the opportunity to do something about it. In addition to me, one of my aunts, two of my first cousins, and one distant relative have had our stomachs removed. Plus, another aunt of mine and another first cousin have the option to someday. Additionally, we have extended family -- like second cousins and others -- who are also having genetic testing and weighing their options. Moreover, for those of us who carry the mutation, we can use embryo screening to prevent our unborn children from carrying the mutation and dealing with this mess.

This is the sacrifice my mom unwillingly made. She is our hero. But she had no choice. As circumstances dictated, she took one for the family. A big one.

Some of the sick irony is that my mom’s mom died in her mid-60s. She died of complications from a brain tumor. I think it was my mom’s biggest fear that she would die young like her mom. That’s why she loved as hard as she did. That’s why she had such a vibrant disposition and cared for others like she did. That’s also why she underwent regular breast cancer screening.

Unfortunately, my mom’s greatest fear came true. But for an unpredictable reason and in a way that was unexpected. And totally preventable.

Because of my mom’s experience, it seems to me like genetic testing for mutations that are associated with a significant risk of developing cancer should be routine. I recognize that it’s a tricky and controversial topic. But, after my family’s experience, how could I not feel this way?

Sure, if my parents told me that I couldn’t date or marry someone because she or I carry a genetic mutation, I might be devastated. It sounds like a strange and science-fiction-like scenario. However, this is the world we live in. We have the luxury of knowing our genetic makeup and, therefore, some of the health risks we may face.

If you had the opportunity to change the fate of a deceased parent, an unborn child, or your own, would you take it? I would.

Guest Author