Finding out that you have an inherited risk of cancer comes with lots of emotions and challenges. Over the past ten years I have experienced the ups and downs that come with knowing I have a mutation in the CDH1 gene. Here are some of the challenging decisions I have had to make since our family found out we had Hereditary Diffuse Gastric Cancer syndrome.
But first, a little background about our family. I was never able to meet my grandmother on my Dad’s side, because she died about one year before I was born, in 1982. I didn’t know much about her life or her death until my father’s stomach cancer diagnosis in 2007. It was then that my father talked about how his mom died of stomach cancer as well, and he was concerned that he had the same thing. He was right.
Although we didn’t technically meet the criteria for genetic counseling and testing back at that time, since both my grandmother and my Dad were over age 50 when they were diagnosed with stomach cancer, my Aunt Karen advocated strongly for genetic testing (thankfully!). My dad was the first to be tested since he already had diffuse gastric cancer. And when he found out he was positive for a CDH1 gene mutation, our lives changed forever.
Decision 1: Should I get tested?
This didn’t really feel like a decision I had to make at all. Seeing how my Dad suffered from his cancer diagnosis and symptoms, undergoing surgeries, chemotherapy, and many hospital visits and stays, I knew that I needed to be tested. And if I tested positive, I knew I needed to do something so I didn’t get the same cancer that he and my grandmother had.
I went to the Yale Cancer Genetics and Prevention Center in the summer of 2008, when I was 24, and met with a genetic counselor named Danielle. She taught me about how the CDH1 gene is inherited, and that my chances of inheriting it from my dad were 50% (basically, if I got his mother’s “bad” copy of the gene instead of his father’s “good” copy). My blood was drawn and sent to a genetics lab in California, and then we waited.
When I returned for my results about a month later, I just had a feeling that I would be positive for the gene mutation. I can’t describe it, but when Danielle told me that I carried a mutation in CDH1, I replied “I know.” I still remember that day, and I don’t regret my decision to pursue genetic testing one bit.
Decision 2: Should I have a preventative total gastrectomy?
I guess for me, the question wasn’t if, but when. Since I had seen my Dad suffer from HDGC, I knew how bad it could be and I would do anything to prevent it and live a healthy life. Since my dad’s siblings were already in their 40s and 50s, they proceeded to have surgery pretty quickly after their genetic diagnosis. It was helpful to see them recover and do well with their surgeries, and know that post-gastrectomy life isn’t easy but it’s manageable.Talking to them and learning about their recovery and what foods they could and couldn’t eat was helpful for me to mentally prepare myself.
I finished graduate school, where I was studying to be a Physician Assistant, and prepared to move to New York City for my first job. I was young, single, and just starting my career. I put my gastrectomy on the back burner for a few years. In the meantime, I started having endoscopy surveillance (not the best option since it can often miss a cancer, but better than doing nothing).
We also lost my Dad to his gastric cancer on February 9, 2009. It was terrifying, traumatizing, and life-changing. There were so many feelings that came with losing a parent, but one of the worst was guilt. Knowing that I could prevent this, but he had to suffer and lose his life at only 58 was an awful feeling that I had to work through.
One of my dad’s oncologists at Memorial Sloan Kettering Cancer Center, who happened to specialize in HDGC, was kind enough to reach out to me by phone a few weeks after my Dad died to offer to take me on as a patient. I was touched and grateful, and met with him to establish care. In doing so, he recommended that I meet with a surgeon, but also with a psychologist who specialized with making these difficult life decisions about preventative surgery. She was helpful in letting me share and process my feelings of guilt, grief, anxiety and fear. I’m glad I was able to talk through the plan, including my concerns about work, finances, and dating after surgery.
On December 14, 2010, I had my gastrectomy at MSKCC. The postoperative period was challenging, frightening, and painful, but after seven days in the hospital I was more than ready to go home and try getting back to a sense of normalcy. And, during my post-operative appointment a few weeks later, I was relieved about my decision when I learned that the pathologist found 32 spots of T1a cancer in my stomach – I had made the right decision.
Decision 3: What should I do about my risk of breast cancer?
Long story short, I was fortunate enough to meet my wonderful husband about 6 months after my gastrectomy. Despite the challenges of dating without a stomach (and there are many… restaurant ordering, wine drinking, gas, diarrhea… need I say more?), he stuck with me and was so supportive of my recovery process. We dated for two years and got engaged in 2013. Life was so good!
When we moved back to Connecticut from New York City together, I re-established my care with the Yale Cancer Genetics Center. I was referred to a breast oncologist who oversees breast cancer surveillance for women at high risk, and we discussed a plan: clinical breast exams, and consideration of mammography and breast MRI starting younger than the average age. The good news was that I didn’t have any family history of breast cancer. The bad news was that there were only 2 females on my Dad’s side of the family (his sister and his mother), and his mother had died of gastric cancer in her early 50s. So that wasn’t really helpful in deciding at what age I would start my surveillance.
Somehow, we came to the conclusion to get a baseline mammogram when I turned 30. That was thankfully negative. Tom and I were married that fall, and I saw my oncologist and decided to have my first MRI in the Spring of 2015. That was when sh*t hit the fan. First a callback because of a little abnormal spot (Tom and I knew this wasn’t a good sign). Then an ultrasound, biopsy, and mammogram. Then the diagnosis: Invasive lobular breast cancer in my right breast. My life changed in that instant.
Decision 4: What type of treatment should I have for my cancer?
The next decisions felt super rushed. I knew I needed to have surgery for my breast cancer. I met with a breast surgeon the same day as my diagnosis and was given the options: lumpectomy with radiation, right mastectomy, or bilateral mastectomy. Despite my devastation about not being able to breast-feed if I ever had children, I rationalized that total mastectomy was the better choice to prevent any future risk of breast cancer. I thought about it over the weekend, sought a second opinion to confirm the diagnosis and treatment recommendation, and booked my surgery.
That summer was probably the most challenging part of my CDH1 journey. I had read online and gotten advice about the recovery, but I don’t think I was totally prepared for the pain and muscle fatigue that I felt after surgery and during reconstruction. I was out of work for about 6 weeks, and with the help of a great physical therapist finally felt well enough to slowly get back to normal activities. Mastectomy wasn’t easy, physically nor psychologically. I felt like I had lost my femininity and would no longer be attractive to my husband. I had terrible pain and couldn’t sleep on my side for at least a month. But I survived.
Decision 5: What to do about fertility?
This was a huge challenge for us. Newly married, just starting to think about starting a family, and we get thrown a breast cancer diagnosis. My husband and I had already talked about using In Vitro Fertilization to prevent the CDH1 gene mutation from being passed down to our children, but we hadn’t started to pursue our options yet. Well, now time was of the essence. If we wanted to have children, we were advised to freeze our embryos before I started endocrine therapy for my cancer. I had 12 weeks to get this done.
Developing our genetic test and doing the IVF cycle was a whirlwind. The test was created by a genetics laboratory in Michigan, and the plan was to biopsy any embryos that we had to see if they carried the gene mutation. If so, we could choose not to use them in the future when we were ready to have children.
We started the medications and prepared for our cycle. Hormones, injections, bloating, ultrasounds, bloodwork… it was overwhelming. The day came for our egg retrieval, and we waited over the weekend to see what would happen with the 8 embryos we had. And on a Monday, our reproductive endocrinologist called: none of the embryos survived.
So, one last decision. Do we wait to try another cycle, or postpone and start the endocrine therapy? After coming to terms with our failed cycle, we decided to just get the medication in my system and wait to try again in the future. At least our genetic test is still ready, when the time comes.
All in all, there have been many challenging and exhausting decisions when it comes to having a CDH1 mutation. Yet I often think that these decisions are almost easier to make than some other decisions we all face: about our jobs, our relationships, where we live, our life plans, and everyday events. Ask my husband to describe me trying to decide what to order off a restaurant menu – now that’s torture!
The best advice I can offer? Utilize your support system and find a therapist you can trust to guide you through the decision-making process. You may hear many opinions and recommendations that are swaying you one way or another, but ultimately, it will be up to you to determine the best path for you when it comes to these complex medical issues. Talking it through with friends, family, and a neutral party can be extremely helpful. Take time to research and gather information, learn from other’s experiences, but understand that your decision is uniquely yours, and nobody else can make it for you. Once in awhile, step away and take time to breathe – go hiking, do yoga, or read a book – and come back to it after you’ve given your brain a chance to rest. While these decisions may seem urgent, they really aren’t, and you have time to “sleep on it” for a few days until you have come to the right decision for you.
Please don’t hesitate to reach out to me with any questions!
Johanna D’Addario is a CDH1 mutation carrier and breast cancer survivor living in Connecticut. She was diagnosed with a CDH1 mutation in 2008, had a preventative total gastrectomy in 2010 at the age of 26, and a bilateral mastectomy in 2015 at age 31. She is passionate about connecting with and supporting others who have had similar challenges in life. She works as a physician assistant in women’s oncology services and cares for women who are at high risk of gynecologic cancers. She tries to honor her father Greg, who died of Hereditary Diffuse Gastric Cancer in 2009, by living each day to its fullest.
Johanna lives with her husband Tom and their dog, Cooper, and enjoys traveling, exercise, the theater, and spending time with friends and family.