OK, so what exactly is CDH1? I know that I talk about the gene all the time, and I refer to it often, but I also have a feeling not many of you know exactly what it is. I’m hoping that me explaining it will give you some insight as to why I decided to get my surgery so young, and how I ended up being diagnosed with cancer at the age of 25. So, let’s just jump right into it!
Obviously CDH1 is a genetic mutation, and it is hereditary. You know those memes on Facebook that say “Your genes don’t suck, your bad attitude sucks”, yeah well, my genes literally suck. At least in regard to the fact that I carry the CDH1 gene and have to deal with all of this for the rest of my life. I got the gene from my mom, she got it from her mom (we tested my grandfather, who is still living, and he tested negative so we found out it had to have been from my grandma). And before that there is no telling how far back this gene goes in my family, my mom was the first person to discover she had it. After that we discovered that multiple members of our family, both distant and immediate, also have it. For me it’s weird that this gene is so dominant when it comes to having children. And what I mean by that is if I decide I want to have a kid, even though my husband doesn’t have the gene, our child would have a 50% chance of having it to. And it works the same way if you are a male that carries the gene. The chances of passing it are just so high it constantly shocks me.
So, what does it mean if you have CDH1? It means a lot of things actually. First, you have over a 70% change of developing stomach cancer within your lifetime. I have heard from my surgeon that those numbers are actually lower than the reality of it, my surgeon told me that I would have a 95% chance of getting stomach cancer within my lifetime. Second, if you are a woman with CDH1 (such as me) you have over a 60% chance of developing breast cancer in your lifetime. My grandmother was diagnosed with breast cancer at 29, and my mothers’ cousin just underwent chemo because she carries the gene and had breast cancer. So, breast cancer is also a huge reality when you have this gene. Third, with this gene you have an increased chance of having a cleft lip, or a cleft palate. Both my mother and my sister have clefts, we never realized that the correlation was actually due to the mutation until we discovered they both had CDH1. However, it doesn’t really matter that I don’t have a cleft palate. If I had a kid and they carried the CDH1 gene they would have an increased risk of being born with one even though I don’t have one. Fourth, CDH1 increases your chances of having ovarian cancer in woman, and prostate cancer in men. Fifth, you have an increased risk of having colon cancer if you have the gene. The worst part is that with CDH1 the cancer forms inside certain tissue, and to this day it is unknown why that happens. It makes the cancer extremely hard to catch, and usually when they do catch it the cancer has spread outside the tissue (or lining) and started to make its way to other parts of the body. And when that happens, it’s really really hard for doctors to do much that will help your situation. This is why they encourage preventative surgeries for people who carry the gene, they STRONGLY encourage it. Emphasis on the strongly, they actually kind of push it on you. But in my opinion, and with my experience, I am so glad they did.
In short, this gene is DANGEROUS. If I was an outsider reading this, I would probably have the craziest look on my face as I read about the multiple forms of cancer I am prone to having. Naturally doctors focus on the stomach cancer aspect of this gene first, I was told at the age of 21 that if I wanted to have kids, I needed to do it ASAP so that I could get my stomach removed as soon as possible. But I had other doctors tell me that I could wait until my 30’s and I would be totally fine. I am not a doctor, and I am not giving medical advice. But if I had waited until my 30’s I would have been dead by then, I might not have made it to 27 if I didn’t have the support of my surgeon at Johns Hopkins to get the procedure done. With this gene it is not a matter of “well I might get stomach cancer so I should get biopsies and see the results and go based off of what they find.” NO. The only solution to this gene is to get your stomach removed at the youngest age possible, and of course at a time when you feel comfortable. A doctor can’t make you get a procedure, you have to decide that on your own. I made the decision based on the statistics. I had over a 95% chance of having stomach cancer in my life, I had a 50% chance of having the gene. In all honesty, the statistics didn’t seem to be working in my favor up to this point in my life, so I went ahead and got the surgery. And thank the Lord I did because I did have stomach cancer, at the age of 25. That is something I never thought I would be saying. The statistics behind this gene, in regard to your chances of getting cancer, are totally accurate. I am living proof.
I have been told by surgeons that CDH1 is associated with some of the most intense, and fast growing, types of cancer. I would tell you all about what my medical history holds for the future, because I am sure you realize by now that my journey living with this is not over, but I want to save that for another post. This post is just to inform you what CDH1 is, what it can do, why I decided to get my stomach removed. Please be responsive! If you have any questions at all please write a comment! If you want to know about the process for genetic testing drop a comment and I will be happy to reach out to you (or I could write a blog post about the process for genetic testing). I am here to share my story and help those that want to learn more about it. Or for those who fear that they may also have a genetic mutation due to the prevalence of cancer in their family. Don’t be strangers, tell me what you think and what else you would like to know! I would love for this blog to be more interactive!
