Hereditary Diffuse Gastric Cancer

My blog is a bit backwards. As I’ve been posting on a helpful Facebook group called “Support Group for Partial & Total Gastrectomy Patients” (very helpful resource), I realized that I haven’t discussed why getting your entire stomach removed is the correct treatment plan for someone with the CDH1 mutation.

CDH1 also puts you at a 40% increased risk for lobular breast cancer, but I’m not planning on a double mastectomy. Why, you may ask? Because present screening for lobular breast cancer (alternating MRIs with mammograms every 6 months) can catch the cancer in time. But for stomach cancer (linitisplastica), current medicine’s screening doesn’t work. This is a big statement, so let me explain how I got to that belief, along with my team of doctors.

My dad and his cousin both died of stomach cancer. After seeing this, my aunt had annual endoscopy screenings. 4-6 months before she was diagnosed with stage 3 stomach cancer, she had an endoscopy screen come back clear.

I met with Dr. L, a gastroenterologist, prior to my surgery. He said, “I used to think a total gastrectomy was draconian. I have been disproved.” He used to think increased endoscopy screenings would catch the cancer early enough. But every CDH1 mutation patient who screened negative had a stomach pathology positive for cancer post surgery. Dr. L performed 100 biopsies during my endoscopy and found nothing; my post-surgery stomach pathology came back with 4 cancer spots. And as you read, after a stage 3+ cancer diagnosis the average survival rate to 5 years is <25%. My dad, aunt & cousin all survived about 3 years post diagnosis. When I walked into my genetic counseling appointment, I made it clear that if I was positive for the gene, I wanted to pursue the total gastrectomy because current screening is ineffective. I was not doubted or questioned; in fact, I was further validated. At MD Anderson, they draw patients from far away for their high level of experience. These doctors have seen time and time again that today's available screening technology just doesn't work. We asked where the research is today, and they said some work is being one to use a kind of spray dye detection. My prayers are that through continued support of No Stomach for Cancer, screening research will progress and be available. With the average onset of this cancer being 31-38, I'm not waiting. I'll take what available medicine is available to me now. So, why can't doctors detect it? The keyword is diffuse. When you think of most other cancers, doctors can usually find a polyp or tumor or something red and raised...I'm no doctor, but basically you can see something. When the cancer is diffuse throughout the stomach lining, by the time you see something, the cancer has already progressed to stage 3 or stage 4. At this point, it could have metastasized to the liver or somewhere else that might make it too late. And since the symptoms of stomach cancer are similar to acid reflux or are easily attributed to a bad diet, by the time most people get checked out, it could also be too late. That is how I arrived at my conclusion. I hope this discussion can help others with this difficult decision. And for me, if I couldn't effectively argue my reasoning to disbelievers, how could I go into this surgery, no matter how scared I was?

7 thoughts on “Hereditary Diffuse Gastric Cancer

  1. Hi! So… I’m not going to lie, this post sort of freaked me out a little bit. If you don’t mind me asking, how long did you wait from the time you found out you had the CDH1 and surgery? I had an endoscopy come back negative about 5 months ago and I’m was hoping to wait until June 2014 when it works best with my schedule,
    but now starting to think I should do it sooner.

    • Hi Steve,

      Sorry, not meant to freak you out! I tested positive for the CDH1 mutation Jan 2013. My surgery wasn’t until June 2013. To me, it’s a numbers thing. My genetic counselor presented the statistics: as a female, I was at a 79% risk for diffuse gastric cancer with the average age of onset being 31-38.

      But you have to look at your family history also. My dad came back stage 4 in his late forties, same for his cousin. My aunt passed away in her fifties. So it doesn’t appear to happen in my family until later. The only wrench in my family history is a great aunt who passed away at 31.

      They aren’t sure how fast this cancer moves, but I got the impression it was slow to progress, perhaps up to 10 years from first cancer spot to stage 4. Given my age, my doctors and counselors didn’t think I needed to rush. They just asked me to pick a month that was easiest for my personal schedule. Let’s face it…there’s no good time to put your life on hold for 8 weeks while you recover. There’s no exact way to say when this cancer would be too advanced.

      I don’t believe I could’ve gone in for testing without being prepared to do something about it. I personally needed a few months between genetic testing results to surgery date to mull it over in my head. It is a major surgery. And those months were used to eat and eat!

      I wouldn’t feel rushed, but I would consult your doctor and genetic counselors about your specific risk factors and what they recommend. I can just share my story. 🙂


  2. I met with our surgeon today and they recommended that I do it pretty soon. My dad passed away at 36 and my sister at 21, so they say I’m rolling the dice on this one. They want me to do one more endoscopy and one more PET scan before they schedule my surgery so that should happen in the next few weeks.

    I cannot begin to tell you how helpful your blog has been since I started unrolling this to a small circle of friends and family. After doing their own research, almost everyone has sent me your blog! Just awesome. I’m a youth pastor and on Sunday my wife and I are going to be unrolling the details to our students and then it will go public to everyone else. I found it more and more difficult to explain what’s going on with each conversation, but it’s been cool to tell people your story.


    • Thanks Steve! I would say if I had your family history, I’d be pushing for surgery sooner rather than later.

      I read your blog posting and it was so well written. I’ve always wondered why we got this gene mutation & maybe it was meant to be for me. Maybe this is my story about how God can support and guide you.

      Please keep in touch with how you’re progressing through your journey. My prayers will be with you.


  3. Hi Marne,

    I wanted to let you know I have recently begun following your story and you are quite an inspiration. I am 55 years old and just in the past couple of weeks have found out that I am CDH1 positive. This discovery came about in a kind of a fluky way — after an out of range blood test during my physical last spring which suggested possible diabetes, my doctor raised a yellow flag since my mother died of pancreatic cancer a few years ago. Given that I am in good health (6’0″, 168 lbs) and am a good eater, he immediately wanted to understand if this out of the blue development was a sign that I was dealing with a hereditary pancreatic cancer issue, particularly since my mother’s mother also died of the disease back in the 1980’s. So I was referred to the Pancreas Center at Columbia Presbyterian (we are just outside NYC) and they set me up for an endoscopic ultrasound which came back unremarkable. However, after the test was done, my doctor wanted to set up an annual screening regimen going forward, and in organizing this he asked me to work with their genetics people before we set up the actual program that I would pursue. This is where my story takes its strange turn. When I sat down with the genetics counselor and we went through the full family history on both sides, in addition to the story of my mother’s side of the family, I informed her that my father had died of stomach cancer at age 50 when I was 12, and that his mother had also died of it at roughly a similar age. Upon hearing that, the counselor decided my genetic testing should be expanded to look for genes related to both types of cancer (pancreas and stomach). This all made sense to me, but since I was so dialed into my mother’s disease and my own potential pancreatic irregularities, and my father had passed so long ago, I didn’t really think twice about the possibility that there would be any potential issues related to my stomach. After all, I already had outlived my father, never had any significant stomach issues and have basically been feeling fine. Well, I imagine you know where this is going. Last week we got the results back, and as noted above I am CDH1 positive. It took me about 2-3 days of cramming to get up to speed on much of the info out there, and during my doctors visit yesterday they unequivocally recommended TPG. In fact, the doctor even made a comment during my visit that she thought I had already “cheated” the odds a bit. So I will begin my surgical consultations over the next week or two and hope to get everything scheduled for late summer or early fall.

    I have learned a lot from your blog in a very short time, and hope to navigate my journey into a stomachless future as well as you seemed to.

    • Wow Bill,

      Your physician sounds great to point you all the right directions!! As you get ready for surgery, perform some major research on your surgeon and hospital. In good health, you should be able to have a good recovery with minimal complications. I recommend my surgeon, Dr. Paul Mansfield based off of his experience and success. Although, I know not everyone lives near Houston, so I’m sure there are other capable surgeons out there.

      Ask if they put in a feeding tube. It’s critical. Also make sure the anastomoses (reconnecting the esophagus to the small intestines) will be hand sewn back together and not stapled.

      There’s a lot of great resources online and I’d be glad to chat if you’d like.


  4. Marne,

    Thanks for the guidance – my wife (a nurse, lucky for me) and I are still discussing how wide a net to cast in deciding on a surgeon. We are initially going to meet with the surgeon recommended to us at Columbia, but we are also thinking that Memorial Sloan here in NYC has a lot of super well regarded surgeons that might be the right way to go.

    I will most certainly take your advice and do as much research as possible before making a final choice. I’d very much like to chat at some point – let me know the best way to contact you and I will reach out when I get a bit further down the road and maybe get some more insights from you.


Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.