Brian died on April 10th. He lived well beyond the 6 months they told him when he was first diagnosed. He had time to live and enjoy life. He also lived to give us a chance to understand what was happening. If he only lived 6 months after his diagnosis, he probably would not have undergone genetic testing. We wouldn’t know about the CDH1 mutation and the risk to our family. One of the reasons Brian lived was so others, including myself, would not have to go through what he did.

He as a year and a half younger, so I don’t remember a time without him. We shared a room for 18 years. He asked me if it was okay, if okay if he went to St. Joseph’s University and lived in Greaton Hall where I lived, so that would make it 21 years (although we weren’t roommates anymore). He was an amazing person, always a step ahead of me. He was a better artist than me. He was smarter. I started playing guitar before him; he was a better musician. I graduated before him; he started and finished graduate school before me. He married and started a family before me. The one thing he should have never done before me was leave this world.

Brian was a great brother and friend. If you knew him, you know how much he loved life. Didn’t think twice about walking through the mall in his onesy pajamas to have his picture taken with Santa (This was only a few years ago!). He would laugh telling the story about how he walked into a glass wall and broke his nose in the CNN building. Or about the time he got trapped under the large rubbermaid trash can full of mulch in his back yard. He would buy movie themed “snacks” to watch the academy awards. I laugh everytime I think of him going to the grocery store baker and asking her to write “Life of” on a pie as his tribute to “Life of Pi”, and his telling the story of how the baker said, “you want what? …just ‘Life of’? … okay.” He was one of a kind.

I will remember riding bikes out back. He had the coolest orange 5 speed with the banana seat. Tag, wiffle ball, kick ball in the breeze way between our house and the neighbors. Running back and forth between our little kid pool and the neighbors. They probably held 6 inches of water. Baseball in the back driveway eventually moved to the Acme partking lot. We could play street hockey for 20 to 30 minutes without having to call a time out to let a car pass. Before mom moved, I realized that you can’t go 30 seconds on that street without seeing a car today. He left me with many great memories. I wish we had time to make more.

Until we meet again…

There is one aspect out of all that is going on that weighs more heavily than anything else. The thought that I may have passed the CDH1 mutation on the Conor and Kiley. Basic genetics… I gave them either the gene I inherited from their grandfather or grandmother. They have a 50% chance of inheriting the bad gene. Yes, they were both born before any of us knew about hereditary diffuse gastric cancer. There is nothing I can to about this now. And, of course we shouldn’t focus on a particular future because there is always the chance we could get hit by a bus. Knowing this does not lessen the guilt. It is instinct to want to protect them, but all I have at the moment is hope. Right now, I don’t know their status. Consent must be informed, voluntary and the person must be competent. This would depend on the individual. The general practice is that genetic testing for a disorder with such serious consequences should not be done prior to age 18. Conor is 18, and will test after he completes his Spring term. Kiley expressed she “wants to know”. She will have to wait, another year. So, we all wait, and I do what I can to convince myself that they have many healthy and happy years ahead of them.

Yesterday, I made the decision to have my stomach removed. Of all the senarios one can imagine for their life, this would not have been on the list. Let me back up to explain how I got here. About two and half years ago, Brian, my brother, was diagnosed with diffuse gastric cancer. I won’t speak to what he has been through. That’s his story to tell. It was around January of 2019 that one of his doctors mentioned that diffuse gastric cancer can be caused by genetic mutations. The result of Brian’s genetic testing was the first time I heard of the CDH1 gene. For those interested in the science, the CDH1 gene codes for a protein, E-cadherin. This protein has a number of jobs. One of the main jobs is to help adjacent cells to adhere to each other. More important for this story, it acts as a tumor suppressor, preventing cells from growing or dividing too rapidly. Brian has a mutation in his CDH1 gene. We now know that this mutation is in our family germ line because my genetic tests found that I have the same CDH1 mutation. This means I have a 60-70% chance of developing hereditary diffuse gastric cancer in my life time. The recommended treatment, remove the stomach before cancer develops.

About Hereditary Diffuse Gastric Cancer

There must be other options. Can’t they test for diffuse gastric cancer? The simple answer is “no”. When most of us think of cancer, we think about a tumor. A tumor is a swelling or mass of cells that are growing abnormally. Tumors can be diagnosed by medical imaging. In the case of diffuse gastric cancer, there is no mass of cells. The cells spread beneath the lining of the stomach. The stomach lining viewed by endoscopy, CT, or MRI may appear normal. It is possible to detect these cells through biopsy of the stomach wall. However, the stomach surface area is approximately 800 cm2. In a typical endoscopy, biopsies will randomly examine less than 1% of that surface area. Since there is no clear test for diffuse gastric cancer, the recommendation for anyone with a CDH1 mutation is a prophylactic complete gastrectomy to remove the stomach before cancer occurs.

By the Numbers

Having been trained as a scientist, of course I want to use data to make my decision (NOTE: The numbers presented here are based on my review of on line content. Any errors are or misinterpretations are soley mine.) Hereditary diffuse gastric cancer is one form of stomach cancer. According to the American Cancer Society, about 27,510 cases of stomach cancer will be diagnosed in 2019 and approximately 11,140 will die from this type of cancer. Less than 1% of the population will develop stomach cancer. About 20% of those with stomach cancer will have diffuse gastric cancer and about 20% of those with diffuse gastric cancer will have a mutation in the CDH1 gene. The average age of onset for stomach cancer is 68, while the average age of onset for diffuse gastric cancer is 38. The age range is 14 to 82. According to UpToDate, the risk for developing diffuse gastric cancer in individuals with a CDH1 mutation is 70% in men by the age 80. The 5 year survival rate for stomach cancer is about 30%. If I refused to have surgery, the recommendation is to have an annual endoscopy with biopsies knowing that the absence of pathology only means they did not find cancer, not that I am cancer free. This information, along with my brothers experience is what I used when deciding to go ahead with the surgery.

Why Blog?

I am blessed and grateful that I have friends and family that care about me. We don’t always have the time to share what is going on in our lives. And to be perfectly honest, I already know that this topic often depresses the mood of the room and we can’t have that. Thus, I find myself faced with a few challenges. The first challenge I face is, who do I tell? How do you bring this up in conversation? Please don’t be offended if you learned about this second hand. Life may not have placed us in the right time or place to have the discussion. Now that you know, understand that I have no problem answering questions. In fact, as a teacher, if I educate one person, it will be worth the experince. So feel free to reach out. Ask all the questions you want. On the other hand, I’m sure some of you will have questions but are hesitant to ask. So for everyone who can handle the TMI (too much information) that is this part of my life… I give you all that follows. If you don’t have high expectations for fabulous writing, you won’t be disappointed.

Acknowledgements

Hey, I’m a scientists. I can’t write something without including “acknowledgements”. Keep in mind this applies specifically to the idea to write down my thoughts and expereinces. I will begin with the person who introduced me to Narrative Medicine, Kathleen Ackert, a future, brilliant osteopathic physician and a great story teller. In her description of our first interaction, she taught me to respect the empathy of others. Perhaps someone else will learn about themselves. I also want to acknowledge Ruth Conboy, our Personal Support Counselor. She encourages students to navigate the complexities of medical education through various means including self reflection. My hope is that some self reflection will get me through this.