Genetics Gone Wild: One Survivor’s Story of a Rare Genetic Mutation by Guest Blogger Kate

When I was diagnosed with breast cancer at 32 years old, it was important to consider potential genetic risk factors in order to make more informed treatment decisions. My mom was diagnosed with breast cancer in her 30’s as well, and I had a known family history of breast and other types of cancers on both my mom and my dad’s side. When I spoke with a genetic counselor about my family history, and potential risk factors, we both thought there might be a genetic link, but we weren’t certain which one exactly. With that uncertainty, I chose to be tested for all potential known genetic mutations, instead of just the typical BReast CAncer (BRCA) genes. And, I am so lucky I did! (Read about Kate’s initial diagnosis in a previous blog: A Rare Genetic Mutation)

With genetic testing, it is customary to start testing with the person who has the cancer diagnosis, and work out from there. So, first I was tested. When I went to my follow up appointment with my genetic counselor, I could see by the look on her face that the news probably wasn’t great. As a new cancer patient, I was getting used to that look. I immediately assumed I would hear her say I was positive for BRCA 1 or 2, so I braced myself. Having researched these two genetic mutations extensively, I knew what my future could look like. When she said I was positive for a pathogenic mutation on my CDH1 gene, I looked at her and said, “What the heck does that mean?” She stated she had completed research of her own before meeting with me because she had never had a positive result for this particular genetic mutation despite working in the field for 20+ years. She stated it is “really rare, so I’m as surprised as you are, and I’m so glad you decided to test for all possible mutations.” My mom was tested next because of her previous cancer diagnoses and thankfully tested negative for all possible known mutations. Next up, was my dad. He tested positive for the same CDH1 variant as me, and so did my brother. Over the years, a couple of second cousins have also tested positive, pinpointing what side of my father’s family the mutation came from. We have shared the genetic information and the potential implications with every relative who could potentially be affected, and now it is in their hands whether or not to be tested.

CDH1 is a relatively newly discovered genetic mutation that is linked to both lobular breast and hereditary diffuse gastric cancers. Most families learn of this mutation after signet ring cell adenocarcinoma is found in theirs, or their relatives, stomach once it has already spread throughout the body. That’s how scary and aggressive this gene mutation is. Because of the diffuse nature of these lobular and gastric cancers, they are very hard to detect at early stages because the cancerous cells do not cluster together to form traditional tumors like most other cancers. This is especially so with the gastric cancer associated with a CDH1 diagnosis. Regular scans and/or endoscopy surveillance are not nearly effective enough to rely on yet, thus it is often found too late. When my genetic counselor stated the current national cancer guidelines advise for prophylactic removal of the stomach (total gastrectomy), I gasped. “What?! How is that even possible?!”

It is now three years later, and as I write this, I had that crazy surgery, I am stomachless, sitting here like a “normal” human being, and still thriving. I never could have guessed where these seemingly simple genetic tests would have directed mine and my families’ lives.

All this being said, because of the rarity of this mutation, most cancer centers are not knowledgeable or equipped to handle someone in my situation. Even in large cities, most oncologists won’t even see one CDH1 positive patient in their careers. And, as most cancer patients know, you want an oncology team knowledgeable about your disease, prognosis, and treatments because your life, quite literally, depends on it. So, I got researching, and found an amazing CDH1 support group online. I also found a clinical study at the National Institutes of Health (NIH) – National Cancer Institute (NCI) studying hereditary diffuse gastric cancer, and CDH1 positive patients. This is one of just a few clinical studies in the world going on right now for this mutation, so I immediately applied. I was accepted right away, and was booked for my initial visit clear across the country. Because I felt confident with my oncology team at home treating my breast cancer, I treated the clinical study as a second opinion when it came to my breast health, but as the primary oncology team when it came to the CDH1 specific, and gastric cancer aspects of my mutation. Joining the study not only allows me to give back to future generations of CDH1 positive people through research, but allows me to benefit from cutting edge and experimental treatments when it comes to my own mutation. I also gained access to one of the world’s best surgeons, so that’s just another bonus.

As you can imagine, being a stomachless individual in a world where that is a rarity, and having multiple cancers prior to turning 35, follow up care is a must to make sure I continue to remain healthy. Being part of the NCI study ensures I will have at least yearly follow up visits for the rest of my life. Most surgeons perform your surgery, you see them for a few months post op, and they discharge you after a set amount of time. With a total gastrectomy, this is difficult because eating, drinking, maintaining weight, exercising, malabsorption issues, etc. will be ongoing for the rest of my life. So, I kind of need a team of experts to consult with and make sure everything is on track. If I went to my local doctor with a total gastrectomy related issue, sure they would be interested in me because I am a medical oddity, but they probably wouldn’t know where to begin with me either. Just another reason I am indebted to the NCI and this amazing clinical study.

I know this study is unique, but if you, or a loved one, ever has the misfortune of being diagnosed with cancer. Even a common cancer. Make sure to find experts that you trust to treat you. Don’t be afraid to seek out studies that are on the leading edge of science, even if they are clear across the country, because you deserve the best care and the best chances possible.

“I started blogging day one of being diagnosed. You see, writing has always been therapeutic for me, and being diagnosed with breast cancer meant I was going to need a lot of writing therapy! It was also a way to keep friends and family informed without having to make a ton of phone calls and keep people in the loop when I was exhausted going through treatments. I am still blogging, albeit less frequent, but feel free to visit my website and blog at www.mypinkgenes.com. I am much more active on social media these days, so if you would like to follow along day to day, I am on Facebook and Instagram @mypinkgenes. These days I aim my writing toward helping others. If I can help one person out there by knowing they are not alone in this scary, crazy cancer world, then all of this will be worth it.” 

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