Jul 26, 2022
"Good Genes," by Kaitlin Demarest: a resident searches for answers after genetic testing.
Good Genes, by Kaitlin Demarest, MD1 (10.1200/JCO.22.00871)
My mother was diagnosed with breast cancer when I was 5. I accompanied her to a handful of chemotherapy sessions and filled the time with MadLibs and word searches. The drive to the hospital became familiar; the diner where I celebrated my fifth birthday was on the way, as was the dairy bar and the Chi Chi’s that shut down. I grew accustomed to her wearing wigs and remember vividly the time one almost flew off her head on a windy day at Rockefeller Center. I learned that vomit could be green and what a computed tomography (CT) scan was. This is not to say that I knew what was going on or what all of it meant.
When she was first diagnosed, my dad explained that there was something scary growing inside my mom and her doctors needed to take it out. He drew an arrow coming out of a finger instead of breast tissue to help my young mind better grasp the concept. I was not sure why the cancer picked her breast to start growing in but that mattered little to me as my kindergarten logic figured it would be simple enough to take out. However, after “trying to get the cancer out” with surgery and chemo, she only seemed to get sicker. She would spend days on the couch after treatments, nauseous but not wanting the Coke syrup she would give me when I was sick.
Eventually, she returned to work, her new head of hair much curlier than before, and things seemed normal again for a brief time. I can recall multiple times, almost yearly, that I believed she was cancer-free, but then I would overhear her telling someone over the phone that she needed to start treatment again.
I clung to the belief that everything would be okay without a second thought, but then one day the summer after fourth grade, she told me and my brother that she would not be getting better. Soon she was in hospice care, and then she was gone.
Losing her at 10 years old, there was so much I did not understand. I decided I wanted to become a doctor and tried to start my medical education as soon as possible to fill in these gaps. I wrote research papers on cancer topics in middle school, took as many science classes as possible in high school, and majored in molecular biology as an undergrad. I even spent a summer shadowing oncologists, including one of my mom’s. He called me by her name a few times, which mostly warmed my heart that he still thought of her and reminded me that he had known her too. He was very kind, clearly doing the best for his patients. Watching him, I began to appreciate the rocky road of disclosing setbacks and poor prognoses as a provider.
Despite a week of shadowing my mother’s oncologist and countless visits with my aunt and uncle, both doctors, who had helped her navigate the treatment process and even took care of her when she was home on hospice, I refrained from asking about the genetics of my mother’s cancer. Perhaps due to wishful thinking, I was under the impression that my mom had been tested for hereditary breast cancer syndromes while she was alive and that she was negative for BRCA mutations. But finally, at the end of my first year of medical school, over the karaoke music at a bar after my cousin’s college graduation, my aunt told me that she had never been tested; I would need to be tested soon.
I had been scared to receive the results of my genetic testing. I had faced mortality but avoided thinking about my own. I remember my heart pounding as I listened to my genetic counselor, trying to discern any doom or gloom in her tone. After she carefully explained that I carried no mutations known to be associated with cancer, I caught my breath and relief did wash over me. Then it was all over. Years of questioning, asking what if, bargaining, avoiding, wondering, hoping all tied up. “Take care of yourself, Kaitlin,” she said, “Don’t study too hard tonight.” It was almost as if she knew. The sudden silence, the finality, and the lack of solace in my solitude; I felt panicked and empty. There would be no sticky little mutation to act as scapegoat for all my pain, no genetic alteration on which to pin her loss.
I would not have to think so much about prophylactic mastectomies, only early screening. But I was devastated. I thought knowledge would mean power, but it turned out that ignorance was almost bliss. I secretly hoped for an answer, written in our DNA, a molecule I had come to understand so well, that would explain why I had lost my mom so prematurely.
As a kid, I felt helpless against my mother’s illness and these results only exacerbated that feeling. Studying molecular biology and human physiology granted me some sense of control, but my heart ached not knowing what happened inside of her organs, tissues, and cells. I knew a lot about cancer but virtually nothing about hers. I could not let cancer have any secrets.
There are a lot of things I know and remember about her. Her love of grocery store–related game shows. Her frustration over untangling my hair each morning before school. Her Armenian way of dancing; her arms twirling along to Santana on the radio at a traffic stop. But it made me feel so far away from her to learn about the histology, diagnostic workup, and treatment of breast cancer and not know anything about her experience. Our time was cut short, so many stories left untold. Any morsel of information I could remember of her was proof of our time together and that our relationship was special, despite how young we both were when we were separated by her death. If I could not ask her about her hobbies growing up, her social life in college, or what it was like being pregnant with me, I was going to learn about what made that impossible.
I remember hearing that my aunt and uncle still had her medical records and, after asking them, they arrived in the mail along with old Mother’s Day cards and letters to Santa. The woman kept everything.
It took me a few nights, locked in my room, chasing the grief with episodes of The Marvelous Mrs. Maisel, but I made it through every page. She had a modified radical mastectomy and a transverse rectus abdominus muscle flap reconstruction, an echocardiogram prior to doxorubicin, and required Neupogen to keep her white count up. Other things I had already known: menarche was at age 11 years, she wore a sleeve to improve the lymphedema in her left arm after her lymph node dissection, she had two c-sections, and she smoked cigarettes for a brief period. Also documented was my parents’ divorce and the fact that they had me and my brother, our ages swapped. Everyone always thinks he is the older one.
It was satisfying and heartbreaking. Now I knew the type of cancer and its stage and size at diagnosis. I knew that she had surgery followed by many cycles of chemotherapy then radiation and tamoxifen. After all of this, according to an office note, she was “basically doing extremely well.” But I read on and on as her tumor markers kept rising. 52. 94. 178. 145. 375. Scan after scan showed no evidence of metastatic disease, until they finally did. One year, three CT scans, three bone scans, and a positron emission tomography CT later, she was found to have bilateral pleural effusions, liver metastases, and omental caking. She had been on estrogen deprivation therapy with Zoladex which was not working, so it was decided to perform a laparoscopic oophorectomy. The oophorectomy converted to an open procedure due to adhesions, bilateral Krukenberg tumors, and extensive carcinomatosis.
Mostly lab sheets remained after that, with platelet counts and international normalized ratio checks after she was placed on warfarin for a blood clot. The very last page was a list of information requested by the cancer center at which she was to start another round of chemotherapy to control her progressive disease. On it, she wrote a note to remind herself to have the office reach out to my physician aunt with questions. Even at this stage, she had hope chemotherapy would prolong her life.
As painful as it was, I got my answers, which showed me just how powerful and therapeutic it can be to feel informed. I had harbored so much grief for so long because not understanding my mother’s cancer made her feel that much farther away.
Many would expect the relief but not the heartbreak from hearing my negative results. The truth is, good news is good but it is also new. It does not erase the pain, worry, and loss that may have preceded it, and it does not necessarily indicate a clear path forward. New information can anchor us, quench our anxieties, or it can be an unpleasant surprise. My experience has taught me that you cannot predict how news will land on the ears and hearts of someone else. This makes it so important to leave one’s own expectations behind and to give patients the time and space that they need to process. As healthcare providers, we always want to be the bearers of good news, but we must remember that every patient has an undocumented history and any conversation can be a delicate one.
As I write, my internal medicine residency training quickly approaches. I am still shaking down cancer’s secrets but feeling closer to my mother than before. As a physician, I will meet patients and their families on some of the scariest days of their lives. I cannot take away all of their fear, but I can walk with them through all of the knowing and not knowing and make space for relief and grief alike. I hope I will always remember that my every day could be the longtime culmination of loss, worry, and anticipation for someone else. I am grateful for the good genes, good memories, and good purpose in life my mom gave me, and I will do my best to make her proud.
Dr: Lidia Schapira: Welcome to JCOs Cancer Stories: The Art of Oncology, brought to you by ASCO podcasts, which offer a range of educational and scientific content and enriching insight into the world of cancer care. You can find all of the shows, including this one at podcast.asco.org.
I'm your host, Lidia Schapira, Associate Editor for Art of Oncology and Professor of Medicine at Stanford. And with me today is Dr. Kaitlin Demarest resident at the University of Pennsylvania. We'll be discussing her Art of Oncology article, 'Good Genes'. Our guest has no disclosures.
Kaitlin, welcome to our podcast.
Dr. Kaitlin Demarest: Thank you so much for having me.
Dr: Lidia Schapira: It is a pleasure. I just like to start the conversation by asking authors to tell us what they're currently reading or what they recently enjoyed and would recommend to a colleague, what could I find on your night table?
Dr: Kaitlin Demarest: I recently finished a book called Middlesex. It's not a very recent book, but it's actually one of the books that I remember my mom reading when I was a kid, and I've wanted to read it since then. It's incredibly beautifully written and it has a medical thread through it as well, I would absolutely recommend it. Definitely one of my favorites.
Dr: Lidia Schapira: I really enjoyed that book. It's one of my favorites, too. So, you're currently a medical resident, correct? At Penn?
Dr: Kaitlin Demarest: Yes, this is my second week.
Dr: Lidia Schapira: And how's it going?
Dr: Kaitlin Demarest: It's been so great. I started in the outpatient setting. So it's been nice to step into that PCP role.
Dr: Lidia Schapira: Fantastic! Well, maybe we can even interest you in pursuing a career in cancer medicine.
Dr: Kaitlin Demarest: Absolutely.
Dr: Lidia Schapira: But let's turn to your essay, 'Good Genes'. You share with us that your mom was diagnosed with breast cancer when you were 5, and that you lost your mom when you were 10. Tell us a little bit about what motivated you to write the essay and then send it to us at JCO.
Dr: Kaitlin Demarest: Sure! It actually was when I was writing my personal statement for residency applications. My mom's experience with cancer is very much linked to why I want to be a doctor. And so, I think that's why it came up when I was writing that personal statement. I think I just had a lot to put down on paper after I'd gone through her medical records. And it was really therapeutic actually, to write it all down. And a friend encouraged me to send it in.
Dr: Lidia Schapira: There's an interesting comment there and one that I want to unpack a little bit. Writing to process an important emotional experience is therapeutic, but then the decision to share it, and in this case, perhaps share it with your future colleagues and attendings in medicine, requires sort of an additional step. What made you want to share the story with a broader community of cancer clinicians?
Dr: Kaitlin Demarest: I think I was really comforted by my genetic counselor who probably hasn't read something like this, but she just seemed to be so in tune with the range of responses that someone can have when they get genetic testing results. And I wasn't even expecting the reaction that I had and I thought that maybe it could be helpful both to people who undergo genetic testing, but also to any provider who's delivering those results.
Dr: Lidia Schapira: So, let's talk a little bit about the theme of your essay, sharing important medical news, in this particular case, the results of a genetic test. Tell our listeners a little bit about what made you want to be tested? And then how did you receive the news of the genetic test?
Dr: Kaitlin Demarest: I knew I was going to need to be tested for a while because my mom was so young when she was diagnosed. So, it was indicated for me. And I understand how it can be a daunting decision for a lot of people.
But I hold fast to the notion that knowledge is power. I'm very grateful that I underwent the testing and it really set me up with a great plan to get screening done very regularly. It's sort of a setup for that process. It honestly has brought me a lot of resolve knowing that I'm doing what I need to do in order to best protect myself for the future.
Dr: Lidia Schapira: I'm very happy to know that you feel this resolve and you feel good about it. But you write in the essay and share with us that initially, it was devastating to hear that you did not have an inherited susceptibility that we could name.
My interpretation of that statement and I want you to react to that was that in a way it made your mother's cancer more mysterious, not knowing the cause, not knowing what the danger was made the threat of the potential genetic susceptibility more vague and diffuse. Tell us a little bit about what it was for you.
Dr: Kaitlin Demarest: Exactly. When I found out that I didn't inherit susceptibility, it did make it seem a bit mysterious, both for my mom and for myself. She didn't have genetic testing done, which makes it a little bit more confusing as well. But I think I was really hoping for an answer to explain why she was diagnosed so young, although that would have been difficult news to receive as well knowing that I had inherited something that could lead to cancer.
Dr: Lidia Schapira: I found your insights incredibly powerful about the idea that news is just news, and the lens through which somebody receives the news may be different from that of the person who's sharing the news. You make this reflection that you hope that as a physician, you will sort of listen to what's happening with your patients.
Tell us a little bit about this idea that even good news that you had good genes wasn't necessarily experienced by you in the moment as good?
Dr: Kaitlin Demarest: Definitely news is new and it takes time to process that, even if it's expected to be good. And like you said before, I feel like it is good news now, but when I originally heard that information, I really needed to process what that meant, for me, but also, it just made me realize that there was more processing of my mom's death that I needed to do. Every time we deliver news to a patient, we have no idea what brought them to that space and what is going to come up when they receive that information.
Dr: Lidia Schapira: I admire the genetic counselors. Their training is specific to their discipline, but they're also trained in communication skills. I think that is so incredible because, as you say, they can't anticipate how the news is going to land. They have that moment, that sort of teachable moment, to help people begin to process what they've just heard.
So, let's talk a little bit about the other piece of the essay, which is that you sought to connect to your mother or you needed to understand the details of your mom's history. And so, you found her records when you were in medical school and sort of able to read through them. I have this image of you locking yourself up in your room instead of listening to Fabulous Mrs. Maisel and even getting some snacks and just pouring your heart and soul into reading this. Can you tell us a little bit about that experience?
Dr: Kaitlin Demarest: I think, I would have loved to have processed this a lot sooner, but I think going through the medical records in medical school was a good time to do it because I had a better understanding of what I was reading.
It took me probably three nights. I don't think they were three consecutive nights because it was definitely heavy. It was really difficult to read how things progressed and to understand the weight of it all. And not only to read what was happening in her records but to think back and remember those times and being able to look back at those memories with new knowledge filled in a lot of gaps for me, but it was definitely difficult. I feel like I have more to say but I'm struggling to find the words.
Dr: Lidia Schapira: Reading your essay, I have the impression that there were many adults who tried to help you as you were developing your own ideas about what had happened to your mom - your aunt, your uncle, your mom's oncologist who allowed you to shadow him in the clinic, which I found very endearing. Can you tell us a little bit about what was helpful, and which ones of these experiences actually were helpful to you?
Dr: Kaitlin Demarest: I remember when I received the results, and I was very upset. I called my dad and my stepmom. I think it was my dad who told me that my aunt would probably have her medical records. She sent them right away.
Just knowing that my aunt and uncle who are both physicians helped her so much through this process has been incredibly helpful and just very touching. They've been so helpful to me and inspiring to me as I move forward through my medical career.
They are the ones who helped me set up a time to shadow my mom's oncologist. And he taught me a lot about breaking news to patients. It was really amazing to get to work with him because I could see how much he cared for his patients and knowing that he was one of the people caring for my mom felt really good.
Everyone in my family has been so encouraging of me since I said I wanted to be a doctor when I was 8 years old and they've never made me feel pressured to pursue anything in particular, but they never made me second guess this purpose.
Dr: Lidia Schapira: As oncologists, we often tell our patients who are not going to be able to see their kids grow up that their kids are going to be alright and I hope your mom had that feeling that you were going to be alright. Listening to you now I can only imagine how proud she would be of the doctor that you've become and planned to be.
What message would you like the readers of your essay and listeners of this podcast to take away from the story?
Dr: Kaitlin Demarest: I hope that readers will not shy away from daunting news, whether that means they're the ones hoping to pursue testing or screening, or whether they are providers who are nervous about these kinds of conversations because while they can be very uncomfortable and they can be emotional, they're so, so worth having because they can really protect the health of a lot of people and it's a really great opportunity to form a very trusting relationship that can have a really positive impact for the long term.
Dr: Lidia Schapira: And it gives meaning to our work as well.
Dr: Kaitlin Demarest: Of course.
Dr: Lidia Schapira: It's one of the reasons that many of us get up and go to the clinic every day or every week.
It's been lovely to hear your story, Kaitlin. You're a terrific writer. Your insights are very powerful. I thank you for sharing your story with us and I sincerely hope that you consider a career in medical oncology.
Dr: Kaitlin Demarest: I'm very much considering it. Thank you so much for having me.
Dr: Lidia Schapira: Until next time, thank you for listening to this JCOs Cancer Stories: The Art of Oncology podcast. If you enjoyed what you heard today, don't forget to give us a rating or review on Apple podcasts or wherever you listen.
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