“You may tell a tale that takes up residence in someone’s soul, becomes their blood and self and purpose. That tale will move them and drive them and who knows what they might do because of it, because of your words. That is your role, your gift.”
– Erin Morgenstem
Firefly believes passionately in the gift of storytelling, using our blog to purposefully and poignantly share stories. Stories that may get in your blood and become a part of you. Stories that my change you, like today’s guest blog by Kate.
A Rare Genetic Mutation
Breast cancer may have saved my life. I say “may have” on purpose because I recently received the call from my doctor with my upper endoscopy and stomach biopsy pathology results. Out of the ninety-two biopsies taken during my stomach mapping procedure, one came back positive for signet ring cells. These cells are common in the stomachs of people with the rare genetic mutation Cadherin 1 (CDH1),which I was diagnosed with earlier this year. This means there are cancerous cells in the lining of my stomach as I write this.
Let me give you some background information to put this all into context. I was diagnosed with Stage 3 Invasive Lobular Carcinoma of the left breast about ten months ago, at the age of thirty two. Because my mom was also diagnosed with breast cancer at a very young age, I was at the top of the list to receive genetic testing as part of my treatment plan. My mom was diagnosed in the 1980’s, before genetic testing was a standard of care, and before the CDH1 mutation was even discovered. In a way, it is good that I was tested before my mom, because she has since tested negative for all common breast cancer causing genes. If I would have known that previously, I may have felt a false sense of security and not been as diligent about finding answers to my own rare and aggressive cancer.
While going through the genetic testing process, I was expecting to test positive for one of the widely publicized BRCA genes. That is why it was a complete shock when the genetic counselor read my results, telling me I tested positive for a CDH1 mutation. Basically, this gene mutation significantly increases my chances of having lobular breast cancer, check, and what is known as hereditary diffuse gastric cancer (HDGC), check. HDGC is REALLY hard to detect due to the signet ring cells being present in the lining of the stomach in single cell or cluster formations, not forming tumors like more traditional cancer cells. There is no blood test, biopsy, procedure or scan that is guaranteed to detect these cells. Because of the difficulty in detection of HDGC, the current recommendation for cancer prevention is to have a prophylactic total gastrectomy (you read that correctly, the current recommendation is to have your entire stomach removed before you are diagnosed with cancer). As you can imagine, that was a tough pill to swallow after already having had both of my breasts removed less than six months ago and undergoing ten months of active treatment so far.
So, while undergoing treatment for breast cancer, I’ve been researching this mutation, found an amazing online support system through social media, and learned about a clinical study being conducted at the National Institute of Health (NIH) focusing on CDH1. I quickly enrolled, and was accepted into the study. I traveled to the NIH for my initial visit, met with the clinical team, endured numerous tests, and had my initial endoscopy with biopsies (stomach mapping) completed. I just learned that they found cancer cells in my stomach during the procedure. No one knows how fast this cancer progresses, and the five year survival rate for Stage IV HDGC, the stage when individuals tend to be diagnosed, is only about 4% (according to No Stomach for Cancer). This is why total gastrectomy is recommended in individuals diagnosed with the CDH1 mutation, because when cancer is found, it is usually too late. Once I wrap my mind around this new information, and speak with my oncologist, I will be scheduling my total gastrectomy as soon as possible. I am aware this procedure will completely alter my life, but I am also hoping it will save it.
Breast cancer at a young age is difficult, and having a rare genetic mutation on top of it does not make it any easier. I have found support through family, friends, pets, gardening, watching mindless television, engaging in support groups on social media, wonderful health care professionals, and blogging. So, although my urine remains toxic, and I can mark professional pill taker as a present occupation on my resume, I am hopeful that cancer does not have to be the last story I tell and that others can learn from what I am going through.
I have blogged my entire journey, have tried to keep my wit and sense of humor despite frequent chemo brain, and find joy in potentially reaching and helping others. If you are interested in reading more from me, check out my blog at www.mypinkgenes.com, feel free to contact me at email@example.com, or look for my guest blogs on the Firefly Sisterhood website and social media.
Take great care,
Kris west on said:
I also have the genetic mutation CDH1, which was found when I participated in a genetic study through MD Anderson at Foundation One. I am currently being treated for invasive lobular carcinoma stage 4, which is the other cancer you can get from CDH 1. I am currently NEAD!
Kris West on said:
Hi Kate my name is Kris West and I was diagnosed with stage 4 invasive lobular carcinoma (denovo) on February 14, 2013. I have two doctors. Dr. Bloom at Minnesota oncology in Minnesota and Dr. Valero at M.D. Anderson in Houston. I was part of a genetic study at foundation one through M.D. Anderson and they found that I had the rare genetic mutation of CDH1 as well. I would love to talk to you more. My number is 612-718-2589. Thanks!
Firefly Sisterhood on said:
Thank you for sharing, Kris! I will pass your information along to Kate and she may contact you!
James Brown on said:
It is very unpleasant when such genetic mutations happen in your life, but nevertheless they take place. so I think that they can cause a lot of trouble in life. I wonder if, as some really useful measures to prevent possible mutation at birth, for example, where is the best place to address this question?
Firefly Sisterhood on said:
You can go through Carrier Screening and then prior to pregnancy do a round of IVF and have the embryos tested to determine if they carry the genetic mutation. Find out more at: https://www.acog.org/womens-health/faqs/carrier-screening