Life-changing genetic testing that led to a new way of life
When Linda lost two of her cousins to stomach cancer, one at the young age of 38, it led her family to investigate the potential for genetic testing – testing that saved their lives. None of them wanted to lose another family member to something that might be able to be prevented! Sure enough, a gene mutation appeared, indicating a high likelihood of developing hereditary diffuse stomach cancer. Eleven members of Linda’s immediate and extended family elected for a preventative measure – to have their stomachs removed, attaching the esophagus directly to the small intestine. After Linda had her stomach removed in June 2011, one by one, each of her three children also elected to do the same. And, thankfully, they are here to share their stories hoping their family legacy might mean more than stomach cancer.
Linda’s Story – Mother
My story started in the fall of 2010. I had recently lost a first cousin to stomach cancer when he was 42 years old. In the fall of 2010, another cousin was diagnosed with stomach cancer at age 35. It was devastating to our family, and triggered a red flag that there may be a genetic problem. Our family started the process of genetic testing – first, my uncle learned that he carried the mutation, and then my mother received the same results. In February of 2011, I met with Maria Baker, PhD, from the Cancer Genetics Program at Penn State Cancer Institute. She helped guide me through the process of discovering whether I also had inherited the genetic mutation. Dr. Baker was very informative and personable, and helped to answer my questions.
Spring of 2011 was tense – we were all going through our testing and waiting a full month for our test results to come in. When I did get my genetic results back, I found out that I did indeed carry the CDH1 gene for diffuse hereditary gastric cancer. That’s when things changed.
I met with Penn State surgical oncologist Niraj Gusani, MD. His team took me through a series of tests to see if there were any cancer cells, but they didn’t find anything. Realizing the familial and genetic issues that led to my situation, Dr. Gusani and his team advised that the best course of action would be the complete removal of my stomach. My initial reaction? “No!” There’s something special about the stomach—food provides such a comfort to us. However, thanks to the guidance of Dr. Gusani, I was assured that I would be able to continue to live a relatively normal life. Without the surgery, on the other hand, I would face an 85 % chance of developing stomach cancer. As I looked back at my family tree, I realized how many relatives we had lost due to stomach cancer. I didn’t want to take that risk. A lot of people say, “How sad that you have to exist without a stomach.” Not me! I say how great is it that I get to live and put that family curse behind me. I’m thankful it happened and I consider it a blessing. It brought our family even closer together.
It was my wonderful family that was heavy on my mind through those initial days, especially. When you’re faced with genetic challenges and potentially devastating outcomes, you immediately think of your children. My husband and I have three children. We learned that each of them had a 50 percent chance of inheriting this mutation.
As luck and fate would have it, all three had also inherited this genetic mutation passed down through my family. It broke my heart. I had a lot of guilt. But, as life would have it, these situations come with lessons, as well. In this case, this was beyond my control. I had to make peace with that, as we worked through our decisions from that point forward together. None of us had any control of or power over inheriting this genetic mutation, but I could control how I responded to it. I recognized that my children were watching me and I wanted to take a positive approach so we could rise up, move forward and positively influence all else we did have control of in our lives. I had my surgery first, in June of 2011. Then my son Adam, who was 28 at the time, had his surgery in spring of 2012. My daughter Helen was next; she was only a 21-year-old college student at the time. Her surgery was in the summer of 2012. My oldest daughter, Tina, was the last to have her surgery in fall of 2012. By the holidays of 2012, we were able to put it all behind us!
“Stomachs are Overrated”
Dr. Gusani helped us through this– he knew how important it was for us to do this as a family and support one another. In fact, the entire family was always welcomed and invited to be a part of the process during our treatment. We were always included in updates on our care. I remember when Helen had her surgery and her brother Adam came to visit from North Carolina. He was still being fed through a pic line, but he wanted to be there for his sister. He strolled in with his guitar, and right away Dr. Gusani said “I know who you are!” He had heard us talk about Adam and was excited to meet him and check-in on how he was doing since his surgery earlier that year. We even made T-shirts that said, “Stomachs are overrated” that we wore to support each other during our surgeries. We are very active in supporting stomach cancer research, and still wear our t-shirts today during fundraising events.
Don’t get me wrong, having our stomachs completely removed and our digestive systems in a bit of an upheaval has changed our lives. You fix dinner, go out to eat with friends, have family meals around the table – that all changes a bit without a stomach. But, we are alive and it definitely gets better. It doesn’t hurt to have others so close going through the same situation and learning to live their lives differently, as well.
Healing and moving forward
After my surgery, I was only in the hospital for a week, and returned home with the help of a home health aide. I spent a few months on a feeding tube, but after a few months, I could eat small amounts (literally tablespoons) of things like mashed potatoes or applesauce every couple of hours. I think it took my body several years to fully recover, but now that I’ve adjusted and learned how to digest food again, instead of full-blown, adult-sized portions, my appetite and system can handle children’s portions just fine.
Holidays, as you can imagine, are a little different, too. Because there are so many in our family of us without stomachs, we’ve figured out a new way to celebrate and enjoy family bonding beyond the dinner table loaded with bowls and platters of heavy-duty rich indulgences. Have no fear – we do not miss out, by any means! We start the celebration with enjoying the first part of the meal, then we sit and catch-up. As the day goes on, we return to the table to eat a bit more, then visit some more, again. Finally, with the help of the microwave, we warm up what’s left over for another round. It’s kind of humorous when you think about it. Regardless of how we do it, I’m so thankful that we can spend holidays together, and especially because we are all healthy, now.
Because of our genetic predisposition, we were told that there is a higher risk for lobular breast cancer and colon cancer for members of our family. We all continue to have frequent scans and check-ups with our doctors to ensure that any future cancers are caught early.
If there is one thing that I would share, it is that families take some time to look back and really understand their family history. When your doctor asks about your family history, take it seriously. It’s one of the biggest things that we hope people will do. Realizing what our history meant for our lives was certainly a shock, but so empowering, at the same time. It could have been much different for us, but we have each other and our health which is more than enough.
Linda’s daughter, Helen, was a 21-year-old college student when she had her stomach removed. It was a drastic life interruption. Helen had originally planned to wait until after graduation, but she changed her mind after her 28-year-old brother’s surgery.
Helen’s Story – Daughter
In 2011, my life took a turn that I would never have expected. There were members of my extended family that had passed away from stomach cancer, and my mother and her family were going through genetic testing to see if there was a gene mutation that was causing the cancer. Sure enough, after my mom received her results, it was clear that she carried the gene mutation. That meant one thing: my two siblings and I had a 50-50 chance of carrying the gene. If that was the case, it would increase our risk of developing stomach cancer, which is very hard to treat. I was going to college in the Harrisburg area at the time, but, like my mom, I, too met with Maria Baker, PhD, from Penn State Cancer Institute. It turned out that all three of us kids carried the gene, as well. I was shocked. The type of stomach cancer that we were at-risk for is one that forms in the wall of the stomach, so it isn’t easy to catch early and once it is caught, it has a low survival rate. My mom had already made the decision to have her stomach removed, so the three of us decided to follow suit.
Together as a family
The plan was to get through as a family, and so we did. My brother, Adam, was 28 when he had his surgery – he was the first of the three of us to have surgery after our mom. It was the spring of 2012, and our family went down to stay with him during his surgery. After they removed his stomach, the doctors did a pathology report to see if there were any signs of cancer. We found out that there was cancer, just like what had happened with my mom, but we were all surprised to learn that his was much more advanced – they found cancer cells all throughout his stomach. I had originally planned to wait until after college to have my surgery, but this change of events got me to consider moving my timeline up a bit. I was with my brother after his surgery and I remember that it was a rough recovery for him. We were all working together to support him. But, it was also very inspiring for us. We were all going through it together. My mom had done it. My brother had done it. Soon, my sister would go through it, as well. I moved the timeline for my surgery up, and it is a good thing I did! Lo and behold, at the age of 21, I, in fact, had stomach cancer, too!
Finding a sense of normalcy
I have always loved music and singing. I was active in choral groups all throughout college and, at 25 years old, I am still involved today, as a singer with the Susquehanna Chorale. For anyone with any singing experience, I’m sure the question of stomach removal would get you wondering – what would this mean for my diaphragm? Would I be able to return to one of my passions in life or would my life-saving surgery take that away, as well? This was not lost on my care team, by any means. Dr. Gusani and his team knew how important singing was for me. The nurses and everyone involved with my care were phenomenal – they made sure that I was going to be able to get back to it!
After seeing what my brother and mom went through during their recovery, I anticipated some challenges as my body adjusted to its new normal. For a while, eating wasn’t as much fun as it had been. It was a social thing that became an everyday obstacle. Thankfully, though, that has passed and it’s now more enjoyable than it was, at first.
What I learned through all of this – normalcy is possible! It takes a lot of work and endurance to stay positive as your body heals and adjusts to new processes, but it is possible. I went right back to school without missing a beat. I graduated from college in 2013, got married shortly after and three days after I was married, we moved to the Dominican Republic for two years to teach music at a Christian school in Santiago. Now, four years after my surgery, my husband and I are now parents to an amazing new baby girl, Selah! She was born in spring of 2016 and has been such a joy! And, I’m singing again!
At first, is the anticipation of genetic testing to determine your future with or without cancer overwhelming and maybe even a bit scary? Absolutely! But as someone who has made it through, I’m happy to report that normalcy returns! I’m glad I did it and came through on the other side healthy and ready for the rest of my life!
And – as my mom says, this whole experience has definitely brought us closer as a family. It’s something no one else can understand, but we all do.
My siblings and I all have children now. Yes, that means we know what is on the horizon as the years go by – more genetic testing for each of them. We have the next generation with a 50 percent chance of having the same genetic mutation as the three of us. But without a doubt, we’ll get through it together! Hey – we’ve done it before, we can do it again!
To learn more about how you can support our Cancer Genetics Program and give hope to other families like Linda and Helen’s, contact Jenny Miska in the Office of Development at 717-531-0003, ext. 286925 or firstname.lastname@example.org. You can also make an immediate gift securely online at engage.pennstatehershey.org/cancergenetics.