Knowledge is Power

COLD OPEN

The summer of 2022 was a whirlwind. It started with my father’s first call, telling me about the mass in his pancreas.

After a few weeks of testing, we were told that his cancer was stage 4,

which meant it had spread to his liver and would almost definitely kill him.

We were given hope when we learned that his cancer was related to a BRCA2 mutation –

meaning that new treatments might give him many months, if not years, of good life.

But that also meant that my sister and I needed to get tested, because we might also be at risk.

It was a lot.

Through all of this, I was doing my best to stay on top of my many jobs –

including hosting a podcast for End Well.

My friend and longtime End Well colleague Tracy Wheeler was the co-host.

Tracy 1: So we were in a – we were in a real recording studio in a very rural spot, which was incredibly beautiful to drive to. And I remember driving West, and it was a gorgeous day and you know, we didn't script it.

Tracy and I sat down to record a conversation about everything that was going on with my dad and my own decision to get genetic testing.

End Well Podcast: So Tracy and I have a special episode today that's actually really personal to me. It's about my father's recent diagnosis with stage four pancreatic cancer and what my family and I are learning in this process that I hope, well, maybe be helpful to other people.

End Well Podcast: Tracy: And how's he doing? Shoshana: You know, every day is a little different. He is undergoing chemotherapy. He certainly has cancer and will for the rest of his life. And, uh, it's, it's heavy, uh, physically and emotionally for him. (fade down and hold)

Tracy: By the way, everybody, COVID was happening in the midst of all of this, you know. So there was also that and how do you keep people safe and can we even sit 18 inches across from each other and do a podcast at the same time you're going to be going home and taking care of your dad and you know, I don't think we can forget that that was the other swirl.

(podcast fades back up)

End Well Podcast - Tracy: So, BRCA. I mean, I've been reading about BRCA because it's so associated with ovarian cancer and breast cancer, and I have a friend with ovarian cancer. So I, I, I know about that. But I had no idea that it was these other cancers too.

End Well Podcast - Shoshana: I didn't either. So BRCA actually stands for Breast Cancer Gene, B R C A. But it actually is associated with so many other cancers, including pancreatic, prostate cancer, even melanoma.

End Well Podcast - Tracy: Mm. And those are some of the ones that run in your family.

End Well Podcast - Shoshana: Yeah. Yeah, that's right.

Tracy: And it was so real and I think that on a, like a visceral deep level, that's when I really felt what you were going through as opposed to, you know, knowing it.

End Well Podcast - Tracy: And, and then sort of a question for you as both a doctor and a daughter, which is he must, kind of … (fade down and hold)

Tracy: There's a moment when I, I asked you to think about how hard this must be for him, as you lose your relationship to who you think you are. And you really took a moment and, and, deeply considered that.

(fade up podcast)

End Well Podcast: Huh. I haven't really thought about it in that way and maybe I need to, uh, when he's having a tough day or he gets down on himself, I need to maybe cut him some slack and, and think about it in that way of, of identity and who we are in this moment in this day really changes with, with this kind of a situation. (I think so. I mean, I mean, I'm not telling you what to do with your father.) No, this is helpful.

It was helpful - conversations with Tracy almost always are.

Tracy: And I loved you for taking that beat and really thinking about it. It was really emotional.

But I had another reason for wanting to talk about my story on the End Well podcast. I wanted to get the word out about genetic testing.

Tracy: The surprise and shock and I think horror you felt when you realized that you had been medically trained and didn't know that BRCA is associated with so many other cancers. Cancers that ran in your family and cancers that many, many, many families have in their families. And that if you didn't know this, it was suddenly a moral obligation for you to get that out there and you were going to do it any way possible. That not telling people would have been a harm, you know, and that would have been a sin of omission.

I’m Dr. Shoshana Ungerleider and this is Before We Go. Episode 5: Knowledge is Power.

ACT II

After I learned my dad was positive for a BRCA mutation, I felt that I needed to get tested. I was lucky to have someone I was able to call right away…

Shoshana: My friend Dena, who's a genetic counselor, immediately like flipped into professional mode and said, well, absolutely, let's get an appointment on the books and we will go over your comprehensive family history to find out what tests you really need to be looking at, including BRCA.

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Dena: My name is Dena Goldberg. I'm a board certified genetic counselor. So I like to tell people that my job is to help people understand their risk for disease and how to get ahead of that risk.

Dena: My focus is on cancer genetics, but there's also prenatal genetics, which is what most people think of when they think of genetic counseling. There's fertility genetics, there's pediatric genetics, neurology, psychiatric, cardio. So there's all these different specialties that genetic counseling can be part of.

Shoshana: And what initially drew you to it?

Dena: I actually have a little sister with a chromosome abnormality and my parents are both doctors. So I was always really interested in science. Being a sibling of someone with special needs, especially someone with a genetic disorder, really got me interested from a really young age. And then as I got older, this path took me to genetic counseling.

Dena believes that if someone wants to know what their genetics can tell them about their current and future health, then they should be able to get tested.

Dena: Everyone's opinion in this field is going to differ, right? If you go by what insurance guidelines say and what some other medical professionals say, they may say that really, it's only cost effective for people who have a family history. Because if we think about the strain on the healthcare system, we don't really have the capability to see every single person at this point in time. But if you think about it, from an individual level and the way that I think it's going – genetic testing is going, for the future. I do think it's going to be even more integrated in care to where everybody will hopefully be offered it to really get ahead of their health risks.

And, Dena is also really passionate about getting the word out about genetic testing and counseling.

Dena: It was mostly because I was so sick of people not understanding what opportunities were available to them, especially since a lot of them are life saving and life changing opportunities to do genetic testing and people just don't know.

Dena: I've had so many people tell me that they go to their doctors, or like family members of my patients that went to their doctor, and the doctor said, oh, you don't need this. And it's like, why? What do you think this is? It's so upsetting. So I always tell people on social media that you should be your own advocate.

Shoshana: I am pretty shocked at how few physicians, even young physicians, people like me who have trained in the last 10 to 12 years, don't realize that genetic testing is so accessible. So, you know, affordable and really actionable. There's, there's far too many people that for so many reasons don't have access, to testing who could benefit from it um, either because of, you know, cost or lack of knowledge or something. I just feel like we have a responsibility to help

Dena: That's my ultimate hope is that it becomes more equitable because right now, unfortunately, it's not. There's a lot of disparities and there are different groups that are much more likely to get to a genetic counselor. And sometimes it's perceived as a luxury service and it's not. You know, it's – it's available to everybody, it's covered for the most part, and if not there's financial aid available. So I'm hoping that the future of genetic counseling involves a lot more access to genetic counselors and to genetic tests.

Dena also happens to be Jewish and has done a lot of work to educate the Jewish community about genetic testing. BRCA and other genetic mutations are really prevalent among Ashkenazi Jews because of genetic bottlenecking and founder effects. Other groups of people, such as the Black community and French Canadians, also tend to have higher rates of this genetic mutation.

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By the time I sat down with Dena to discuss genetic counseling, my father’s test had already come back positive for a BRCA2 mutation. But that’s not the only mutation that Dena recommended I get tested for.

Shoshana: She tested me for a whole panel of cancer genes. I knew about genetic counseling, of course, had never had a consultation myself, and it is incredibly in depth.

Shoshana: I also learned in that time frame that my aunt was positive for a few genetic mutations herself, not BRCA, but other ones that are in the family. Which sort of explains how my uncle died of cancer in his fifties, and then my grandfather in his fifties, um, I had distant cousins with breast cancer early in life, so all of it was really – all of it was really making more sense.

Dena: I knew that you were probably at 50 percent risk. And, um, you know, honestly, I also knew that you are somebody who has such a strong and powerful voice, that whatever was going to happen, you were going to – I had an idea you were going to share your story and it was going to help a lot of people. So that added an extra layer, not only because, you know, we're friends and I could help you, but because I knew that you were going to be somebody that was going to make a difference with whatever your story ended up being. So, you know, I was very happy to help you and your family.

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Dena reached out as soon as she got my results.

Shoshana: I was actually at my husband's sister's wedding – her wedding weekend. We were traveling and she was like, hey, um, maybe have your husband join you and we can talk through some of this?

Shoshana: We sit down in front of the Zoom in the hotel room. We have the computer on the coffee table. What do you remember Dena, the genetic counselor, saying and what did we say?

Ed: Um, that call was the first time for me that it changed from being abstract bad news, to you could get very sick and die.

I remember Dena’s voice being calm and clear, she said, “your test came back positive for a BRCA2 mutation.” And then she walked Ed and I through the data of what that diagnosis might mean for my future health.

Ed: I remember in the call it being like a parade of bad news, not horrible news. People have worse calls than this. But like I came into it thinking about BRCA and having learned a little bit more about it, and I know that the success rate in breast cancer – there is one, right? And as we went through the presentation, it was like one thing after another of new things to be afraid about that I'd not been afraid about. And I was now suddenly, like, specifically afraid of them.

Shoshana: I didn't – I don't think I realized it at the time that you were so scared. (Well…) And it totally makes sense. I was so relieved to have the information because I – it was actionable information, but I totally see where you were coming from.

Ed: Well, I am a very quantitative person. And your genetic counselor showed us very clear graphs and very clear like data that I looked at and was just scared to death. Like I knew in the abstract, like how this worked. But then to actually be like, here's where you are. Here's what your likelihood of getting this type of cancer is, next slide. Here's your likelihood of getting this other type of cancer, next slide, another horrible cancer. And the numbers were like, not low. That, that was, um, yeah, it was, it was very intense.

Dena says that when she’s counseling a couple – like Ed and I – it’s not unusual for them to react differently.

Dena: You know, there's so many ways to cope with bad news. And so I think that your coping strategy was just like get on top of it and to have information and you understand more than most people that knowledge is power. And I think that your husband may have had more anx–like may have shown more emotion than you did or at least anxiety.

Shoshana: Yes, that's definitely on brand for Ed. Yeah.

Dena: And that's actually really common is when I give results, you know, to a couple. A lot of times that happens where the partner is more concerned than the actual person. And so there's a whole dynamic there too, you know.

Ed: I knew this was your call, like it was for you, and you invited me to be on it. But there were so many places that I needed to ask questions, and I felt bad about that, but I also was just so, I was learning so much because BRCA wasn't just breast cancer.

As soon as the call with Dena ended, I knew what I needed to do.

Shoshana: I was shocked for about two minutes and then I immediately just jumped into like, what's next? How am I going to manage this? What am I going to do? How do I get the right team in place to figure this out? And I – because I had always thought that cancer would happen to me, I felt… um, I'm trying to think of the right word because it's not excited. Um…I felt empowered that now I had information at my fingertips to be able to make decisions.

Shoshana: I'm an action oriented person. So basically within 30 minutes, I had my surgery consultation scheduled. There was no question in my mind that I needed to have a preventative mastectomy, to have my ovaries and fallopian tubes out. For me, the idea of just waiting to possibly get cancer, given those increased risks, just didn't work. There was just no question in my mind that this had to be done.

Shoshana: And I just want to point out, you know, not, not everybody has to have surgery. These are options. There are ways to do screening for breast cancer, more aggressively doing MRIs, more often mammograms. Usually they do recommend having your ovaries and your fallopian tubes out after, you know, childbearing years. But my, you know, feeling was, I knew I didn't want children. We, that was never part of our plan. And that for me to wait and just hope that I didn't get cancer to me seemed crazy. Crazy for me, other people have other ways of thinking about that.

Ed: I was not surprised at all. that you were going to immediately start looking into what to do, right? And you have a network of people to talk to. I knew you'd talk to those people. I did not realize that you were ready to go. Like, you got the information and you're like, let's go now.

Shoshana: Within a day or so, I had already spoken to the plastic surgeon who had come highly recommended to me who would do the reconstruction, the breast reconstruction. And then I'd spoken to the gynecologic oncologist who would do the preventative laparoscopic removal of my fallopian tubes and, and ovaries and we got it scheduled.

You’re listening to Before We Go. I’m Dr. Shoshana Ungerleider. We’ll be right back.

ACT III

My sister, Ariel, also decided to get tested right away.

Ariele: I've always kind of been of the knowledge is power mindset. Like, you may choose to not do anything about it, but at least you'll know. So, it never really crossed my mind to not get tested. And in fact that whole, I'd rather not know, population, I didn't even know those people existed until I started talking to people about how easy it is to get tested. And, um, you know, you just spit in a tube and you FedEx it in, and it's inexpensive, and it allows you to have access to like more screening. And then those same people who didn't want to do the genetic test were like, Oh yeah, I don't want to get screened for breast cancer either. Like, I'd just rather not know. I’m like, oh, okay. What is that? Um, but I guess there's a lot of people out there like that.

Ariel also got her results from Dena. But it was a much more emotional conversation than the one Dena had with Ed and me. For one, Ariel and I are two different people. But also, she tested positive for two genetic mutations – BRCA 2 and another one that runs in our family.

Ariel: We were on a zoom and I could tell, like, just from the outset, and I had my husband on the Zoom, sitting next to me, you know, sitting with us, and I'm glad I did, because I don't think I was – I don't think I was really prepared, just given the fact that, like, there's no history of breast cancer in our family, so I just assumed that, like, we didn't have it.

Ariel: I don't think I knew that you had BRCA at the time. I think you had maybe already knew your results. But I remember just being really sad and kind of like overwhelmed with information. (Yeah.) Um. But then it being kind of like, pretty clear, you know, she just walked through my risk profiles for ovarian cancer, breast cancer, skin cancer, and the, you know, the different kind of percentages. And it was more of just kind of, it became a probability in a math game. And she said, look, you don't have to do anything with this information. It's just, you know, to help you. I'd never had a mammogram. And she said, and also you might want to consider, um, you know, the biggest concern is ovarian cancer, because you can't detect it super early.

Ariel and I knew how scary a gynecological cancer diagnosis could be.

10 years earlier, our mother had had uterine cancer – which wasn’t related to an inherited mutation –

and we’d watched her go through surgery, chemo and radiation.

Thankfully, she was cured of her cancer,

but the idea that it could come back in the future haunted all of us.

Ariel: She's like, I don't think you're going to die from breast cancer, but you certainly want to think about, potentially your risk with ovarian cancer and think about, you know, if you want to have more kids or if you're definitely done having kids and I looked – Tim and I looked at each other and we had just come off this like crazy rafting trip with our two shitheads, I mean, our two lovely kids. And we were like, we're definitely not having more kids. We cannot, there is no more capacity in our lives for this nonsense. Um, so we were like, no, no, we're good. We have two lovely kids and we're like, you know, kicking each other under the table and, our family's good. Complete. And so I think then I started thinking more seriously about ovarian cancer risk and, you know, whether I wanted proactive surgery to remove that risk.

And while Ariel and I are two very different people, we both came to the same conclusion when it came to whether we would have preventative surgery.

Ariel: I ultimately decided, yes, I wanted to move forward with removing my ovaries, uterus, fallopian tubes. As I was sitting with the information and learning more about how minimally invasive the surgery would be, and you know, not a crazy recovery and that it would reduce my risk down to basically zero. And the flip side of that, of feeling also like I had a ticking time bomb inside of me, it just felt like it was an obvious decision to arrive at.

But unlike me, Ariel did not immediately schedule a preventative double mastectomy.

Ariel: I have just a very different relationship with my breasts than I do with like organs that I don't see every day. And I've always had kind of a hesitation around getting implants. Like the idea of implants to me is never something that I wanted to do. So I really felt strongly that I, I wanted to do a double mastectomy and reconstruction with my own tissue and that that would mean finding a plastic surgeon that I felt really comfortable with.

And unlike me, Ariel did not feel comfortable sharing the results of her genetic tests – or the reason she was having surgery – more publicly. At least not at first.

Ariel was an elected official on the city council in Healdsburg, the small town where she and my father both lived, and she had just learned the exciting news that she was being appointed mayor by her peers.

Ariel: And I was worried that going into my mayorship, that it would be perceived as a sign of weakness if I talked about having high risk for cancer. That the public might not have faith in me as a leader if my health was potentially going to be in jeopardy.

Shoshana: And did that change at all for you?

Ariel: It did because as soon as I started talking to people about early detection and testing and realizing how little information folks had, just the opportunity to educate and inform and having a platform to do that. I felt like was worth the risk of, you know, whatever the risk was, which I also found felt, you know, eventually it was kind of a little unfounded, but that it was important enough to talk about and there's enough people in the world who really can reduce their risk, if they're informed and have the ability to navigate through it, that it was, it was worth becoming an advocate about it.

To no one’s surprise, I immediately started talking about my diagnosis. I felt like I had to. I wrote an article for Newsweek. Ariel and I were both featured in the Wall Street Journal. And then there was that podcast I recorded with Tracy:

Tracy: What I witnessed was you as always, really doing everything you could to understand everything about it and understand how. This information that was so shocking to you as a physician, that pancreatic cancer is associated with the BRCA gene, you know, what could you do, to help other people be better prepared and understand, when this pops up in one family member?

Shoshana: Yeah, I think for me, I, like, to make sense of it, I had to, like, there had to be, like, a reason why I was going through it. And so, for me, it was about trying to turn, you know, this experience into something that helps other people.

Shoshana: I think I said this from the very beginning, but I'm just so grateful to have this mutation because now I know my risk. There's actual data and numbers associated with, you know, if I were to make this decision, what might my chances be of getting cancer. And the fact that I could intervene and do something about it? You know, I think with my family history being so significant, full of cancer, I always just assumed that I would get some kind of cancer in my lifetime. So I was almost just waiting for something bad to happen to me. And because there are things you can do with a BRCA mutation to be able to mitigate that risk, I just found that to be obviously life changing and life saving. And had my dad not gotten pancreatic cancer, who knows if I would have been tested.

But while there was a silver lining to all of this, the truth was that my dad was very ill. And he was getting sicker.

Shoshana: It was a little hard to think about having surgery at the time that my dad was getting so sick. But I could just feel it. I knew that this was the right thing for me and what I had to do.

I scheduled my first surgery for September.

Shoshana: Statistically speaking, the chances of me getting cancer in that year were pretty low. But still there. And I am not somebody that sits well with uncertainty.

And as it turns out, my dad’s illness didn’t stop Ariel from pursuing treatment either. A month after I had preventative surgery to reduce my risk of ovarian cancer, she had hers.

Ariel: I didn't want to wait. I just, like, it just felt like he was on this course of treatment that was this, you know, roller coaster of like some weeks he would get treatment. Some weeks he wouldn't. I met a surgeon that I liked and I was interested in working with him, and we had a path forward. So we did it.

But there was one thing that neither of us spent enough time considering. The ovaries produce important hormones, and bouncing back after surgery that took away almost all of the estrogen from our bodies wasn’t as simple as we expected.

Ariel: No one told me that I was going to immediately turn into a psychopath of like crazy hot flashes and mood swings and night sweats and brain fog.

And the medical community doesn’t agree about using hormone therapy - or HRT - to manage those symptoms.

Shoshana: As a woman's health expert, do you hear this sort of story a lot from people?

Dr Haver: I mean, this is my world now. So all the time. It's really easier for the medical system to say HRT is bad. Don't take it. Instead of having this nuanced conversation around, well, you're really low risk, formulation matters, we have these newer drugs out. We know that you'll probably live a longer, healthier life with hormone therapy, you know, but let's look at your individual risk factors and then you make a decision about what you want for your body.

That’s next time on Before We Go.