'My Dad's Terminal Disease May Have Saved My Life'

In late June, I got a phone call from my father. "I have some bad news." The tone in his voice told me that it was serious and my heart sank. "I've been having pain in my belly for a few months and they found a mass in my pancreas." I am a doctor of internal medicine and immediately knew this was indeed terrible news.

The median survival for pancreatic cancer, which I strongly suspected he had, is just a few months. My father's mother, my grandmother, died of pancreatic adenocarcinoma in her early 70s when I was a young teenager. His father and brother died of esophageal cancer in their early 50s. Cancer is a part of our family story.

During our first visit to the oncologist, we learned that my 73 year old father's disease was at stage 4 and had spread to his liver. This is not unusual as pancreatic cancer is often detected very late in the disease progression, making it extremely difficult to treat. Then we learned something which blew my mind. Some late stage patients with pancreatic cancer were surviving three, five or even 10 years, far outliving the typical grim prognosis using a new class of medicines called PARP inhibitors. The doctor recommended genetic testing of my father's tumor biopsy and his blood for genetic mutations. He told us that if we found a BRCA mutation, which is rare (affecting 1 in 400 people), this would be a "good thing" for my dad because it meant he'd be eligible for this treatment which was buying patients years of good quality life.

Shoshana's Father's Diagnosis May Have Saved Her
Dr. Shoshana Ungerleider and her father in 1982. Dr. Shoshana Ungerleider

Named BRCA (for "BReast CAncer") these tumor suppressor genes prevent uncontrolled cell growth and abnormal cells from becoming cancerous. All humans have two copies of the BRCA1 and BRCA2 gene. If there is a mutation in one of the BRCA genes, this leads to the gene not working properly and a predisposition to developing cancer.

A faulty BRCA was gene once thought to be rare, but is found in one out of 40 Ashkenazi Jews, which is my family heritage.

As a doctor, I knew about BRCA but since none of the cancer in my family was breast or ovarian, I felt somewhat safe. But when the oncologist said that my father's pancreatic cancer could be associated with BRCA I felt a cold chill at the possibility that my family's cancer history might indeed impact my own future.

It turns out that my father does have the BRCA gene mutation which gives us all a strong ray of hope that we might be together for many more good years. It also turns out that I carry it as well. In July, I met with a genetic counselor and was tested. At the time, she told me something which surprised me, anyone with Ashkenazi ancestry should seek genetic counseling as they may qualify for genetic testing, too.

I had to wait for three weeks for my results, but I remember feeling pretty certain that I didn't have the mutation because there was no history of breast or ovarian cancer in my family. So, when the results came back positive for BRCA2, I was surprised. If I wasn't a doctor, I may have been more upset by this news but I know there are evidence-based options for how to proceed, from preventative surgery to regular surveillance to lower my lifetime risk of developing cancer. As strange as this sounds, I actually feel grateful and empowered. With my strong family history of cancer, I always assumed I would get cancer too. Now, I'm not just waiting for bad news. Instead, I know my risk and can decide now what I want to do with this information and not just hope that I'm the lucky one.

On reflection, my having the mutation as well isn't that surprising; if you have a BRCA mutation, you have a 50 percent chance of passing the mutation to each of your children. But sometimes the family history is confusing, because not everyone with BRCA mutations develop cancer, so it can appear to "skip generations," especially when inherited from the paternal side.

As with so many things in medicine, it has been more recently discovered that BRCA mutations, typically associated with a greater risk of ovarian and breast cancer, also increase your risk for many other cancers. There's often also a bias that men don't need to be tested since the cancer risk is lower but my family illustrates why this is a misconception.

I want people to know that BRCA is not just found in families with breast and ovarian cancer—these cancers aren't in mine. Not all doctors know that pancreatic, prostate, melanoma, as well as some other forms of cancer are associated with this genetic mutation. I didn't and neither did my doctor. I realized that it's critical to know your family history, ask your doctor and even educate them as I did about genetic counseling and screening. The silver lining in my dad's terminal disease is that he very well might be saving mine.

Being a daughter is different from being a doctor. I just want to go home and spend as much time with my father as possible. And, I've found it nearly impossible to take off the medical hat and only support him as a loving daughter, but maybe that's ok. In addition to being a daughter and a doctor, my role in the family is further influenced by the fact that I'm a national advocate for improving the end of life experience.

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So, amidst all the emotions, I also know how important it is for us to stay grounded in the reality of the questions and decisions that come up when a life-defining diagnosis is received. We began talking about my father's will and advance directive and the specifics around the care he wants and does not want at the end of his life. Just like all of my patients, I want my father's end of life experience to honor his life and the things he values. For my father, it means receiving cancer treatment for as long as he has a good quality of life. And at the same time, trying to navigate the uncertain future that cancer can bring. And, I want him to live as well as possible for as long as possible.

I hope that my father's story, which has now become part of my own, may be able to help the over 1 million people in the United States who have the BRCA mutation, 80 percent of whom don't know it. As far as what it feels like to know that I, too, carry this mutation. I feel empowered to now make choices that align with my own goals and values for living, what I hope will be, a long and very full life.

Shoshana Ungerleider, MD is an internal medicine physician in San Francisco, host of TED Health and the founder of endwellproject.org.

All views expressed in this article are the author's own.