Wait, We have WHAT?!?!

If I had a dollar for every time I was told how much I’m like my mother…well, let’s just say I’d be a wealthy woman. To me it has always been almost freakish how I look so much like her, how my voice resembles her, even how I make the same facial expressions. It turns out my sister and I are more like her than we could have ever even imagined.

We are “the Jackson sisters.” Nicole is the older sister. She is married to Heath, has two little boys, Caden and Liam, and teaches elementary special education in Hartselle, AL. I am Jessica, the younger sister. I’m married to Steven, have one son, Andy, and I’m a data analyst in Birmingham, AL. Our mother was diagnosed with aggressive breast cancer at the age of 36 and passed away almost two years later (we were 13 and 10). For most of our lives we have feared cancer. We were both tested for BRCA years ago with a negative result.  We felt a sense of relief over those results; we would still be monitored closely, but it wasn’t like there was some biological force working against us. Or so we thought.

After my son was born I swapped OB/Gyn’s and when I hit 30 we started discussing how to tackle my breast cancer chances head on. At the time she suggested I start annual mammograms and she really pushed meeting with a geneticist to discuss new genetic breast cancer connections. I had my first mammogram and everything looked great, so I went on with life. When my annual exam came up in 2016 we discussed meeting with the geneticist and this time an appointment was made. To be honest, beyond my mom and her brother (who had kidney cancer a few years ago) I had no real idea about my family history. We discussed what all I knew, she drew blood for a 32 gene panel, and then the six week wait started.

On Thursday, March 3^rd the geneticist called and said “unfortunately your panel came back with a mutation consistent with an enhanced risk for breast cancer.” I will never forget pulling into a Dollar General parking lot to take notes and hearing the term CDH1 for the first time. I knew it was pretty serious because I asked her if this diagnosis would qualify me for the advanced screening measures we talked about and her response was “yes, but we need to discuss other preventative measures based on where you are in life.” We set an appointment for me to come in and discuss the findings the next Monday and she warned me to be cautious Googling this mutation because it would frighten me. And man was she right.

Here is what we learned. The purpose of the CDH1 gene is to code for a protein called E-cadherin, which is found in the membrane of epithelial cells, the cells that line the surfaces and cavities of the body. E-cadherin helps cells stick to each other to form organized tissue. It also acts as a tumor suppressor protein by preventing cells from growing and dividing too rapidly or in an uncontrolled manner.  When a mutation of the CDH1 gene is present is causes production of a non-functional version of the E-cadherin protein or production of a protein with an altered structure. The loss of this normal function prevents E-cadherin from acting as a tumor suppressor and can lead to uncontrollable growth and division of cells. That’s a whole lot of scientific talk, but basically, the lack of normal function associated with CDH1 mutations leads to a 53% chance of lobular breast cancer (the cancer that took our Mom) and an 83% chance of hereditary diffuse gastric cancer (HDGC), a rare, virtually undetectable form of stomach cancer.  Everyone has two copies of the CDH1 gene, one from your mom and one from your dad. While our Dad’s two copies are totally normal, our Mom had one good copy and one not so good copy. Based on the basics we all know about genetics, that means Nicole and I had a 50/50 chance of inheriting the crummy CDH1 gene from Mom.

After reading all of this and picking my jaw up off the floor, I thought perhaps I just wasn’t seeing this right and that when we met with the geneticist she’d tell me I was in a different group and the risks I kept reading about wouldn’t be the same for me. Wrong again! Knowing Nicole had the same chance of having this same mutation, I had her and her husband come with me and my husband to the meeting with the geneticist. I don’t think I will ever forget the opening exchange with the geneticist. She asked me to tell her what I had read about CDH1 mutations, so I proceeded to tell her everything from above, including the 53% and 83% chances of the cancers associated with this mutation. I waited for her to say yes, but that doesn’t apply to your specific mutation. Instead she responded “you’re absolutely right.” Talk about having the wind knocked out of your sails. Since Nicole was there, she went ahead and started the process of screening her for this mutation. Two weeks later, in the middle of the Central Park Zoo, Nicole got the call that we were all dreading, she too tested positive for the same CDH1 mutation. 

Now let’s talk about screening and prevention. On the breast cancer side we can do alternating MRI’s and mammograms every 6 months, we can take Tamoxifen, an oral chemotherapy drug that can help prevent the cancer from developing, or we can opt for a total mastectomy if we felt we wanted to be that aggressive. On the gastric side here are the options we were given for screening: absolutely nothing. HDGC accounts for 1 – 3% of all stomach cancers and because it spreads out within the submucosal layer of the stomach and doesn’t form the typical mass associated with other cancers it is not picked up on an endoscopy. Even having frequent endoscopies and taking regular biopsies is like finding a needle in a haystack.  Like I said earlier, it is virtually undetectable until it’s in a late stage.

So what can be done to prevent HDGC? You can remove the stomach entirely through a surgery called Prophylactic Total Gastrectomy. I know, you’re probably thinking WHAT?! That was our thought too. Here’s the thing, there are a lot of people who have had this procedure done because they too had this genetic mutation and they are living normal, healthy lives. You can live without a stomach, you can still eat without a stomach, we’ve even connected with an awesome lady who is running marathons without a stomach and another lady who had her stomach removed 30 years ago due to cancer and has never missed a beat. It may seem like an extreme measure to some, but an 83% chance of developing an undetectable form of cancer is way too high of a risk to take. We have three little boys who need their mom’s and we know firsthand how hard it is to grow up without a mom. To us, having this surgery is a no-brainer. After much research and talking with three different surgeons (I’m sure we’ll write a whole post on selecting a surgeon), we have decided to have the Prophylactic Total Gastrectomy with Dr. Paul Mansfield at MD Anderson and surgery is set for both of us on May 24^th. We have already undergone our baseline endoscopy and colonoscopy screenings. About 40 biopsies were taken from each of our stomachs and all tested clear of cancer. Unfortunately, that really doesn’t mean anything. After the stomach is surgically removed most places will run detailed pathology on the entire stomach and 95% of the time some degree of cancerous or pre-cancerous cells have been found. Are we scared? Absolutely! But we have chosen to see this as a blessing, not a curse. We have a chance to save our lives, a chance our beautiful Mother never had. We would much rather hear “you have a genetic mutation and need your stomach removed” than to hear “I’m sorry, you have stage 4 cancer.”

Nicole and I have decided we want to tackle this together. My husband has said we’re like Thelma and Louise driving off the cancer canyon together. We will each be updating this blog with news on our progress and CDH1 for people who may be newly diagnosed and looking for information. Please feel free to ask us any questions, we know this is a lot of overwhelming information. Thank you for reading this and supporting us on this journey. Please know we are genuinely grateful for and covet your prayers for us and our family during this time.