Intro & A Bit About the CDH1 Gene Mutation

Hey. I figured I would dedicate my first post to educating people about the gene mutation that has been passed on through my family for generations. Most of the people that will be reading this blog, I assume, are not sharing in my genetic woes. Many of my friends are knowledgeable about my condition to the extent that they realize I will no longer have a stomach, and that they can start feeding me pudding – lots of pudding – about 2 weeks post-op. If you are those friends, let me just say right now: thank you in advance, pudding-bringers! However, if you have a genetics-related cancer risk, or are planning to get a T.G. and have somehow stumbled upon this site, HORRAY! I hope that my blog can help you with your journey in some way, and I will try not to make it sound too horrible.

About Me. My name is Hanna. I am 20 years old and am currently studying to be a physical therapist at the University of Hartford in Connecticut. I am halfway through my third year of school, with plans to suck it up and serve four more years in the American education system to get my doctorate. I have two younger siblings; a brother, Jake (18), and a sister, Maggie (16). (These two will be getting a post of their own later.)

About CDH1. In August, Jake, Maggie, and I found out that we all have the same mutation on our sixteenth chromosome. The mutation affects one gene on that chromosome. In our case, the fucked-up gene is called CDH1. This happens to drastically affect our risk of getting a few different types of cancer. Hereditary diffuse gastric cancer (HDGC) is a specific type of stomach cancer that is much more difficult to detect on an upper endoscopy (stomach cancer screening test). This means that the cancer is most often detected in the later stages, and by that time, not much can be done. Having the mutation means that we all have an 85% or higher lifetime risk of developing this kind of cancer. We also have an elevated risk of colon cancer and Maggie and I have an approximately 40% chance of developing lobular breast cancer (and guess what: that’s hard to detect, too). So, this summer the plan is for Jake, Maggie, and me to all have total gastrectomies (our stomachs removed). After that, at age 35, I will begin to have regular colonoscopies and MRI breast exams. Snazzy, right?

If you are looking for more information about this gene mutation, I suggest you check out Karen’s website

A Family Affair. In 2004-ish, my family caught onto the fact that something was up with us. My great aunt Nancy was extremely sick and no one had any answers as to why she was losing so much weight and declining in health so rapidly. When they were able to test her blood, they told us about the gene mutation. Nancy was adamant that the rest of the family be tested so that she could be the last one that would have to die that way. Unfortunately, she was not; genetic testing was not for everyone in my family. Finding out bad results are productive for some, and for others, it creates too much anxiety and decreases the person’s quality of life. My dad was one of the family members that did get tested. He also is the type of person with a low tolerance for stress. (But lets be honest, who wouldn’t be stressed about learning you have a 90% cancer risk at age 40, when the age of onset is 40?!) He found out about the mutation in August 2007 and had his stomach removed in September ’07. In the weeks leading up to the surgery, my siblings and I literally had to be sent away to live with my grandmother because my parents were both just too stressed out for us to be a part of the mix. After his surgery, my dad was back in the game earlier than anyone expected. Being a still-experimental procedure at the time, no one knew if he would ever eat an actual meal again. They definitely didn’t predict that he would be hitting up the McDonald’s drive-through on the ride home the day he was released from the hospital. He ordered a cheeseburger. The fact that he had an appetite was a triumph for all. My brother, sister, and I all knew that at some point, we would have to be tested for my dad’s mutation. Now that we know we have it, we all know that we must have our stomachs removed. The system my siblings and I have in place is “All or Nothing.” My mom loads us up into the minivan and shuttles us to hospitals where we get our procedures done together. First, we had a consultation with our genetic counselor and were tested for the mutation. Next, we all got put under anesthesia together for our 1st round of upper endoscopies. And this summer, we’ll be shuttled to New York City where our stomachs will be removed! Goodbye 85% risk! No stomach, no cancer.


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