It’s 10 a.m. on the morning of January 28th and I am elbow deep in the dryer when the phone rings. I have been anxiously awaiting this phone call since Friday afternoon – an entire weekend consumed with wondering why the genetic counselor wanted to set up a follow-up call with me. I’ve spent the morning busying myself with household tasks – I scrubbed the inside of the microwave and refrigerator, I did laundry, straightened the bathroom closet – whatever busywork kept me from sitting still and kept my mind occupied.

I was pretty sure I wasn’t receiving good news, or I would just be getting results in a letter from my doctor, yet I received a phone call late Friday afternoon to schedule a consultation with the genetic counselor I had worked with a few weeks prior. When I mentioned this to the scheduler, she replied that I would also, in fact, be receiving a consult from my doctor as well. Great. Nope, this can’t be good news.

After I hung up the phone, I thought to myself that there wasn’t much point in worrying about it over the weekend. This was a genetic test, so there was quite literally nothing I could do to change the results, and nothing I could have done to prevent what the results would tell me. So, I spent the weekend with friends, out of the house and away from my own thoughts as much as possible. I told almost no one about the test results I would be receiving.

Before I get back to that phone call, I have to back up a bit further to share some context about how I got to this point in the first place. Six or so weeks prior, I had gone in for a routine annual exam. There was nothing out of the ordinary with this particular appointment, but my gynecologist’s office had just begun a new cancer prescreening process that week. There was a new form requesting some additional family history that would help the physicians determine a recommendation for additional genetic testing - particularly for BRCA1 and BRCA2 – the genetic mutations most commonly linked to ovarian and breast cancers.

Given the fact that my grandmother’s cancer was so advanced and aggressive by the time it was discovered (which is similar to how ovarian cancer behaves), my doctor thought it would be worthwhile to go ahead and pursue the genetic test to know for sure. I asked what the recommendation would be if the test was to come back positive for either BRCA mutation and she told me that she would recommend a double mastectomy and oophorectomy as soon as I knew I was done having children. I was dumbfounded. I was expecting something along the lines of additional yearly screenings, maybe some ultrasounds. I wasn’t prepared for any of this information – I was here for a completely routine exam and now suddenly I’m thinking about what would happen if I had to be on hormone therapy the rest of my life because I no longer had ovaries.

A nurse came in and did bloodwork and I had a 15-minute phone consult with Myriad (the lab that would be performing my test) and that was it. I was out the door wondering what the hell just happened. I sat in my car for a minute to pull myself together and decided that I wasn’t going to drive myself crazy worrying about this. If I had a genetic issue, there was quite literally nothing I could do to change it, so there was no sense in fretting for weeks on end as I waited. I skated through the last few weeks of the year not thinking about it at all.

After the beginning of the year, I had another, more in-depth phone interview with my genetic counselor at Myriad. We reviewed the comprehensive family history I submitted and she suggested a full panel of tests rather than just BRCA1 and BRCA2 since there were so many unknowns. I do not know my biological father’s family history at all, and amazingly, we never knew my mom’s father’s family history either. This effectively left me with 1/4 of the knowledge most people have of their health – not the clearest of pictures.

Fast-forward back to that 10 a.m. phone call on January 28th. I hadn’t expected to speak to the counselor again and had spent the weekend prepping for her to tell me that I had tested positive for one of the BRCA mutations; I was braced for it.

“I have good news, you tested negative for both BRCA1 and BRCA2, but we did find something else.”

I was so relieved that the “something else” didn’t even register right away, I figured nothing else could be quite as bad.

“You tested positive for the CDH1 mutation which involves a condition called Hereditary Diffuse Gastric Cancer (HDGC) syndrome.”

Wait…what? Gastric cancer? That wasn’t even on my radar. Even though my mom died of gastric cancer at the end of 2015, it had never been a concern of mine. Every doctor we met with said the same thing about mom’s cancer. This type of cancer is rare, it’s most common in Southeast Asian countries where people eat fish high in mercury, and typically presents itself much later in life. Basically, it was an anomaly, a total fluke. There was a glitch in her system, and it wasn’t anything we should be worried about. I carried that false confidence with me for three blissfully ignorant years.

Diffuse gastric cancer is particularly hard to detect at early stages because it doesn’t form a distinct mass, rendering endoscopic screenings pretty ineffective. Most people with diffuse gastric cancer aren’t diagnosed until tumors have also metastasized elsewhere, or until they start experiencing discomfort. At that point, it is too little too late. Of course, we now know that was what took my mom’s life. Her doctors were right, it is an extremely rare cancer…unless you have this genetic mutation, which then basically guarantees it.

Diffuse gastric cancer is extremely rare, occurring in 0.6 percent of the general population. However, a diagnosis of hereditary diffuse gastric cancer syndrome increases that risk to 83 percent. The average age of onset is about 38 years old, with a 4 percent survival rate and an average life span of 2 years from diagnosis. Most people with HDGC are gone by the time they are 40 years old, some much sooner. This did make Mom’s case an anomaly in the sense that her onset was much later in life, being diagnosed just shy of her 54th birthday.

The recommendation for treatment of HDGC is pretty to the point – a total gastrectomy. The complete removal of my stomach before a cell decides to flip a cancer switch is the only real prevention. However, the plus side of that equation is that if my stomach is removed in time, it completely eliminates my risk of HDGC-related cancer.

Not to be completely outdone, the news kept coming. A CDH1 mutation also increases my risk of lobular breast cancer (again, a rarer and more difficult to detect form) to 52 percent. Lobular breast cancer is cancer of the glands, rather than the more common cancer of the ducts and therefore occurs deeper in the tissue and is less likely to form a distinct lump. Ultimately, that could mean a double mastectomy may still be in my future. For right now, I will have an annual 3D mammogram and MRI as well as two clinical exams in-between, meaning I will be examined closely (and quarterly) for changes. The issues with my stomach are much more emergent (as I would quickly find out) so the decision of a mastectomy and reconstruction are on the back burner for now.

This is already extremely long, so I am trying to share the shortest version of these diagnoses as possible, bear with me here.

What has happened from that point on has been a complete whirlwind. After a consult with my doctor, both she and the genetic counselor referred me to the Mayo Clinic in Rochester, MN. From the point of my referral to my appointments at Mayo was exactly two weeks. Anyone who has needed to set up an appointment with a specialist understands how shocking that quick of a timeline was. Their sense of urgency reiterated to me that this wasn’t really something to be taken lightly. Honestly, I was terrified that they were going to tell me I had to have surgery immediately and I would have no time to get my clients and business in order. Everything was happening so fast, I found it hard to breathe. I was completely overwhelmed and still in total shock.

Then, the insurance issues. Ah, insurance…I hesitate even getting started on this topic because it is so disheartening. My insurance denied my referral to Mayo, so my doctor appealed. They stated that I needed to see a gastroenterologist in Rapid City, yet no one could see me until mid-April, so she then got a GI doctor to write a letter on my behalf – denied again. We were so sure that the letter from a GI doctor in Rapid City would fulfill the requirements, that I was already IN Rochester at my appointments when I found out about the second denial. Thankfully, I found out in time to reschedule all of the tests and procedures, which would have consequently all been denied as well, to be done in Rapid City to send back to Mayo for review.

While at Mayo, I met with a gastroenterologist, a surgeon and a high-risk breast health specialist that all have experience working with CDH1+ cases. It’s amazing to have such specialized care within driving distance, and it’s disheartening that it has been so difficult for me to convince my insurance company that these specialists are necessary.

The consensus remained the same, with a priority on a total gastrectomy sometime soon – the surgeon recommended within six months, the GI doctor thought I may be able to wait until the end of the year if I had anything pressing to do beforehand. Although the recommendations were the same, their perspectives on recovery were completely different. One doctor said that life would eventually be back to normal, while the other reiterated over and over about how significant of a life change this would be.

While at Mayo, I was scheduled to have a CT scan, endoscopy and mammogram, all of which had to be rescheduled when I got back home. In the past couple of months, I have met with a GI doctor and surgeon here in Rapid City, I have had a mammogram (which came back clear!), a CT scan (which came back clear!), a colonoscopy and an endoscopy. I am scheduled for a second endoscopy with additional biopsies tomorrow, fittingly, on Mom’s birthday. My local GI doctor (who coincidentally did his residency under my Mayo GI doctor) is in agreement that this is really a case for Mayo with follow-up care locally, so he is once again beginning that referral process for me.

As of right now, all signs point to go. It is crazy to think that I need everything to come back completely normal in order to remove my healthy stomach. Best case scenario is that everything is clear so I can proceed with surgery. There are a shocking amount of instances where a patient’s endoscopic biopsies came back completely clear and yet the pathology on their stomach after removal already showed aggressive spots of cancer growing. That all being said, I’m not sure I will feel relieved by any of the results until after surgery and a final all clear on the pathology. It’s quite literally like living with a ticking time bomb inside my body.

This whole experience has been a complete roller coaster. It has been overwhelming at times, and I have shed many, many, many tears. Yet, I can’t help but feel grateful and extremely lucky. Am I upset that Mom’s doctors didn’t catch the hereditary component of her cancer? Yes. Do I wish we knew in time to save her life? More than you could comprehend. But, I get the opportunity to do something about my fate with this diagnosis. I get to live. Life will be different than I had planned it in many ways, but I get to live it. And the number of stars that had to align for me to get this information is simply astounding. Because it is so rare, most people don’t even get tested for the CDH1 mutation until multiple people in their families have died of stomach cancer – that’s usually what clues doctors into the hereditary component. So the fact that I have only one known relative that has been affected by this and yet somehow ended up with these results is amazing. It shocked all three doctors at Mayo that I came across this diagnosis by sheer coincidence.

What if I had scheduled my annual physical a month earlier? Hell, even a week earlier? I would’ve missed the prescreening that got this ball rolling for an entire year, pushing me even closer to that average age of onset. What if I knew my biological father’s family and was confident that I didn’t need that full panel? The “what ifs” remind me that there is a reason this is being brought to my attention right now and that I need to honor that and surrender to this process. This knowledge is a privilege.

As of right now, I imagine I will be set to have surgery in about two months. In the meantime, I am eating and drinking all of the things and I’ve packed on about 15 pounds so far this year as a result. My pants don’t fit, but I don’t care. Soon they won’t be too tight, but too big – everything is temporary. I’ve eaten mostly paleo for the past three years, but now? Now, I’m eating bread and cheese and ice cream and chocolate with abandon. I’m drinking prosecco and beer as much as I can because I don’t know if I will be able to handle carbonation later. I am eating steak because it’s tough to digest and might become impossible (and I’m from South Dakota so, of course, it is my favorite). I’m taking it all in and putting this stomach to use while I still have it. Nothing else has made me more acutely aware of the fact that things like tight pants don’t really matter much.