When doctor becomes patient, with Dr. Mathilde Crutchfield

In this episode, Dr. Slavin welcomes Dr. Mattie Crutchfield.  They discuss her journey from considering genetic testing to learning she is a PALB2 mutation carrier and how she is taking action to reduce her cancer risk.

Transcript

0:00:11.7 Thomas Slavin: I am Dr. Thomas Slavin, Chief Medical Officer for Myriad Genetics.
Welcome to Inside the Genome. Hi everyone, welcome back to the podcast. Today we have Dr.
Maddie Crutchfield, she is an anesthesiologist in New Jersey. Welcome to the podcast, Dr.
Crutchfield.
0:00:28.6 Maddie Crutchfield: Thank you so much. Pleasure to be here.
0:00:30.9 TS: Dr. Crutchfield is a physician turned patient, and I invited her on today so she can
talk about her story and her perspective of having a PALB2 mutation and what that meant for her
personal journey. I am very excited to talk to you today, we've had a few conversations leading up
to this, and you were recently even on TV, sharing your story, so it's really been amazing to see
everything, and it's people like you getting these types of stories out that really raise awareness
across the country and globe, so thank you.
0:01:09.0 MC: You're very, very welcome.
0:01:11.0 TS: Let's just start, if you wanna tell people a little bit about what you do as a provider
and kinda talk about your story, how did you end up getting genetic testing? And what transpired
from there?
0:01:23.7 MC: Yeah, sure, so I'm a clinical anesthesiologist. I've been working for about 15 years
or so in operating rooms, seeing all different kinds of surgeries as part of what I do every day, I had
always had a family history that was relatively strong for both breast and ovarian cancer that I
should have probably honestly looked at more closely earlier, but it was when I got a new OB­GYN
physician who retook the family history from me and suggested that I get genetic testing done in the
fall of 2021, that it really popped into my mind that this was something that could really greatly
impact my own health and the health of my two daughters and my son. So in October of 2021, my
OB­GYN doctor called me and she said, "You know you are positive for PALB2," and as much as I
think I had thought about the possibility, it was still a bit of a shock to hear it. Once I got that
information, I wanted to be very proactive about exploring the different options and what that meant
for me in terms of risk, and certainly how it could potentially impact my children also.
0:02:48.0 TS: Being a physician, how do you think your training... You said, Yeah, maybe I should
have picked up on this sooner, did you feel like you had the right training to even identify this
through medical school, is it something on your mind that you look back and said, Oh yeah, I
should have thought about this from my hereditary education and cancer genetics or something like
that?
0:03:10.0 MC: Yeah, yeah, I think that is such an excellent point because I actually had considered
genetic testing when I was a resident, back when I was in my 20s, and I had talked to a Genetic
counselor, and at the time my risk was thought to be relatively low.
0:03:28.2 TS: Did you formally talk to them or was it just kind of on the side?
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0:03:31.5 MC: It was kind of on the side 'cause I was in the profession, and at that time, cancer
genetics is not what it is today, and so at that time, the advice was in a general way, why don't... We
don't see an urgency to do genetic testing now, you're young. You haven't had children yet. Why
don't you revisit this later. And so that's exactly what happened. I did revisit later, and luckily for
me, thank goodness I did, because PALB2 would not have been detected 20 years ago, but it was
certainly detected now. And so I think for me, the biggest take­home message was that when you
think about something like cancer genetics and family history, it's not a subject that you visit once
in your life, but something that you need to revisit at various times in your life as both your family
history can change, but also developments in cancer genetics can change, and of course, your risk
and your decision­making is impacted a little bit by your age, and so for me, I think the biggest
take­home message being a physician, that had not been obvious to me prior was, this is a
continuum, this is an ongoing life­long discussion, not just a specific point in time.
0:04:53.4 TS: No. That's a good point. And you consider yourself a previver. I wanted to kinda get
into that a little bit for those that are on and don't know what a previver is, that's someone that had a
strong risk for cancer, that did something to mitigate that risk and is still living. At least that's the
way I think about it. I don't know. We can compare terms. What do you think of it when you say
previver?
0:05:22.2 MC: I agree. That's exactly how I think of it. I think of it as someone who is at higher
risk for hereditary cancer and who has the opportunity to exercise the option of doing something
preventative, prophylactic.
0:05:39.3 TS: So you found out you had PALB2... What were the... Clearly, it was a shock, as
you've mentioned, walk us through that a little bit, did you take some time to reflect? Were you
immediately jumping on something? Yeah.
0:05:53.7 MC: Yes, I think there's certainly the intellectual aspect to the decision that came to the
forefront of my mind, but probably because I'm a physician myself, I do work in operating rooms, I
was more familiar than most people with the type of surgery that I needed to have, if I wanted to be
very proactive about the mutation.
0:06:15.7 TS: Were you thinking surgery in particular, or were you thinking well, maybe I'll do
high­risk breast screening for a while? Or maybe you started a high­risk breast screening. I don't
know.
0:06:23.0 MC: Yeah. So I had gone to speak with a surgeon at a hospital that I had worked at who
was very well versed in breast oncology and in hereditary cancers. And she did right away give me
the two options that people may or may not be familiar with, which is one option is high­risk
screening. For me that meant every six months, having breast MRIs, breast ultrasounds,
mammograms, I can't remember exactly all the components, but every six months, there was going
to be a screening test. The other option was to do prophylactic mastectomy surgery. And as I was
talking with her, she said something that resonated with me, and she said, "We have lots of different
tools to detect breast cancer, lots of different tools, but we only have one to prevent it. And that is
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surgery." And for me, that was an important thing to hear. And as I thought about my personal
decisions, and it is a very personal decision. For me, it was better to go ahead and do something
very proactive and really, truly minimize my risk. That felt in a way a little bit less scary and less
overwhelming than thinking about getting a screening test every six months for the rest of my life.
0:07:54.8 TS: And there's the middle ground of chemoprevention or hormone modification like
oophorectomy to reduce the risk for breast cancer. We are learning PALB2 is a little bit more of a
predisposer for ER­negative maybe triple­negative and things. So, there's some ongoing research
right now. So, yeah, I think clearly it's a world where we have to learn a lot more about, maybe
there's some predisposition that is just a little bit better attuned to chemoprevention, than others.
Like, we know ATM and CHEK2 mutation carriers, for instance, tend to be a little bit more prone
to making ER­positive breast cancer. So arguably, yes, chemoprevention may be a little bit better
for them.
0:08:41.5 TS: Clearly much research to be done there, and are kinds of things that are not in
guidelines by any means at the moment. And we need some actual studies. But I think that's at least
when we're looking at the tumor types that the mutation carriers are being predisposed to, it is
shaping up interestingly, like that. And it's not, I guess, not too shocking too, because we even think
of BRCA1 mutation carriers being very susceptible to Triple­Negative Breast Cancer. And, PALB2
is in that same pathway, it's the partner and localizer of BRCA2 so it hangs out with those same
proteins, and it wouldn't be shocking that there's some more triple­negative predisposition. So,
yeah, yeah. Interesting. So you were ready, had your bilateral mastectomy, and did everything go
smoothly?
0:09:29.2 MC: Yes, yes. So on November 30, of 2021, I did undergo prophylactic mastectomy
surgery, bilateral of course, and initial reconstruction. And it did go very smoothly. I was very, very
fortunate. I had very few health problems going into surgery. So I think that was helpful. And the
surgery did go well. And then on February 28, I had the second stage reconstruction done which
also went smoothly. So as a physician you have... You definitely gain a true appreciation for what it
is like to be a patient. Sometimes it makes things harder, sometimes it makes things easier. I
certainly knew I think maybe a little bit better what to expect in terms of recovery, things like that
because I do see the surgeries in the patients, but when it's happening to you, it's always a whole
different ballgame. So I'm very pleased that it went well. And I do feel where I sit right now a sense
of relief a little bit that this feels like the right decision for me.
0:10:44.9 TS: Yeah, that's what I was gonna ask you. I was gonna ask how you felt about it
afterwards? I mean, if you felt like yes, I made the right decision here, or? Do you have something
else?
0:10:57.0 MC: I think intellectually, it's one thing to make the decision and when I got the
diagnosis, I certainly put on my intellectual hat and looked at statistics and read papers and talked to
experts. And I was able to make that pragmatic intellectual decision fairly quickly. The emotional
part of the decision is real. It's real, it's strong, even though you know, this is probably a very sound
decision to make. There's an emotional component. Everybody is a little apprehensive to have
surgery, everybody's apprehensive to take on something like that. And I certainly was too. So there
was a sense of relief to just get through the emotional part of it too.
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0:11:44.0 TS: Yeah, yeah, I know, for sure. And now, we were talking about this a little bit before
the podcast, but now there's even bigger decision that you're making coming up, not necessarily
bigger, but less clear maybe where, if you wanna tell the audience about what you're now
contemplating.
0:12:05.8 MC: Yeah, yeah, so the PALB2 mutation also puts me at higher risk for ovarian cancer,
as you're alluding to, less definitive what the actual risk may be, but it is real, it is there. So when I
had an ended speech with a GYN oncologist surgeon about having prophylactic surgery for the
ovarian risk, and I think a part of me was like, "Wow, here we go again." So it felt like restarting
that whole emotional intellectual decision. Again, one more time as we know or as we can discuss
with ovarian cancer there are not as good screening tools as there are for breast and so the risk may
be lower in terms of actual risk of developing ovarian cancer, but the risk of detecting it later when
it can have higher morbidity is higher, and so when I took a balance of everything, I felt like, You
know what I'm gonna proceed with this surgery also, and that surgery is ahead of me, still it's
scheduled for May 20.
0:13:21.1 TS: Yeah, it's a big decision. And the guidelines, at least the National Comprehensive
Cancer Network, at least say, evidence and sufficient, there's clearly some emergence of an
association with PALB2 mutations in people and ovarian cancer, and I think we're just on the early
side of trying to understand exactly how predisposed... There's certainly a risk, it doesn't appear, at
least in current literature to be as high as BRCA1, BRCA2 carriers, but it does seem to be in a
[0:13:58.7] ____ risk, it's come out time and time again in various studies over the last five to 10
years in particular some of those I was even part of. So yeah, I definitely feel for you. That's a much
more difficult decision to some extent, where on the flip side, the breast cancer risk, I think we have
enough research at this point where at least guideline committees are comfortable saying, Yeah,
consider or discuss risk reducing mastectomy as a potential option at that point.
0:14:35.4 MC: Yes, that's exactly... You're echoing exactly what my surgeon said, We're on the
early side of it.
0:14:43.1 TS: Tell me about your family, how is everyone taking this? Here you are, you just had
your breast removed, you're coming up for bilateral [0:14:56.3] ____ both ovaries removed for our
audience with tubes, and have you been talking with your family about this, how are they
processing all of this. Seeing the physician, I don't know, maybe you have tons of physicians in
your family, but you're a physician, and I would think they would really be carefully looking at
what you're doing.
0:15:15.3 MC: Yes, yes. So I have three children, I have a daughter who's 17, and a son who's 15
and a daughter who's four, so I have a very wide age range of children. So my four­year­old of
course is not actively contemplating any of these decisions, but my older children have been... I
have to say, I've been so pleasantly surprised by how supportive they have been, and I think as
children, they want their mom to be safe and healthy of course, and they've been very supportive in
terms of that sense of empowerment that you have with a proactive decision. I think they're old
enough to really understand that sensibility of it, and so they have been very supportive, and some
of my biggest cheerleaders, honestly, they really have been.
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0:16:14.1 MC: And then the other relatives and family members, I think because we have lost
several relatives to both breast and ovarian cancer, and everybody remembers how difficult that can
be, I think there's a lot of support. Nobody wants to see another family member go through that, so I
think there is a lot of support, and I definitely had some other family members come to me and say
well "Gee, maybe I should get genetic testing," as well as friends and neighbors who have similar
family history, and I think that's why we're here today. It's just to get people thinking about
themselves, their own health, their own family history, and considering gathering knowledge that
could potentially help people make decisions.
0:17:07.5 TS: Yeah, who else in the family had testing at this point? You don't have to be specific,
but have you really disseminated it and are people like going for what we call a cascade genetic
testing and knowing if they're carriers or not?
0:17:19.8 MC: Yeah. I have a small family, first and foremost, I was the first one in my family to
get the genetic testing, my mom passed away in her... At 62, it's 10 years ago from a rare
neurological illness, and she had been diagnosed in her mid­50s, so in terms of preventative
screening tools and things like that, she probably stopped doing things like mammograms in her
early 50s because of this other diagnosis, which we unfortunately knew was going to be terminal, so
she never had the testing done, but it was her mother who had breast cancer, her mother's sister who
had breast cancer, and that sister's daughter who had ovarian. So we had on my maternal side a
whole cluster of people who had passed away from these cancers. And my mother, as I mentioned,
was already busy enough with other things to really pursue it, so it came to me. It came to me as the
first one, and my daughter, who is only 17, is already showing a lot of maturity with it, and what...
She's aware that she has a 50% chance of carrying this gene, and she's aware that that will mean
either high risk screening for her genetic testing at some point, and maybe even making similar
decisions to myself.
0:18:50.4 TS: That's where genetics is really... It's a family affair. It's really just affects...
0:18:56.3 MC: Absolutely.
0:18:57.3 TS: Just the whole dynamic, people being just being supportive of someone going
through surgeries and different things, but also then being themselves at risk or being potential
previvers and things. So if you have any pearls that you've learned through the process that you'd
wanna bestow for people either contemplating genetic testing or maybe have been told they have a
genetic mutation that puts them at a higher risk for cancer, anything from your journey thus far that
you wanted to share?
0:19:32.4 MC: Yeah, I think a couple of things, one, to borrow from one of my surgeons, she said
knowledge is power, and I do believe that. I do believe that knowledge is power, and it gives you
the power to make a choice. And the second thing, so I'm very pro­knowledge, I'm very progathering knowledge as much as you can, and then I think the second thing I would say is that it's
such a personal decision and there is no right or wrong decision, but try to make it an informed
decision. Do read, do speak to different physicians, do get second opinions, do get genetic testing if
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it is recommended because knowledge is power, and then you know for yourself that you've made
the most informed, most educated decision you can, whether it's to have high risk screening,
whether it's to have surgery, that's a personal decision. But to have, to have the right information, I
think is always a good thing. And always powerful.
0:20:44.0 TS: Yeah, no, that's fantastic. Well, thank you so much for coming on today and sharing
your journey with finding out you're a PALB2 mutation carrier, after your family had lots of cancer
in it, there were concerns going through the surgery, it was really interesting to hear the family
dynamics on the back end and just how it affects everyone. So this was great, I really appreciate you
coming on and sharing your story. So thank you so much and good luck with the upcoming surgery.
0:21:18.0 MC: Well, thank you so much and thank you to all the work that Myriad does, just great
work for everyone, helping others, so thank you so much. Very grateful for it.
0:21:27.8 TS: Thank you.
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