May 9, 2019 • 23 mins
On this episode of Prognosis, reporter Michelle Fay Cortez probes one of the more disturbing unintended consequences of the genetic testing revolution. DNA tests have become so prevalent that more and more people are discovering they have rare and potentially dangerous or even lethal genetic mutations. But how accurate are those findings? And what should people and their doctors do about them? Michelle tells the story of one family faced with the decision whether to proceed with life-altering surgeries to avoid facing a cancer diagnoses one day in the future.
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Episode Transcript
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Speaker 1 (00:05):
Genetic testing in medicine has been a huge force for good.
But what happens when your test results come back with
bizarre findings and your doctor advises you to take immediate
radical steps. They said, we really need to see you
in and they came and said you have to have
your stomach remy and I went what they said, Yes,
you need to immediately, you know, And it kind of
(00:26):
just sounded like nonsense of me. Honestly, I blew it
off and I was like, Okay, well, you know, I'm
not paying attention to that. Diane Dillon got the shock
of her life when she found out she had a
rare genetic mutation that doctors told her can cause stomach cancer,
a terrible, hard to detect form of the disease that
can quickly turn fatal. Her son might had it too.
(00:50):
No one in the family had ever heard of the
disease or the gene when they found out they were carriers.
In the fall of that's not surprising. It's extremely rare.
There are only a few hundred families with the mutation
who have been studied by researchers. But the doctors were
telling both Mike and Diane they needed to have their
stomachs removed urgently. Welcome to Prognosis, Bloomberg's podcast about the
(01:16):
intersection of health and technology and the unexpected places it's
taking us. I'm a healthcare reporter, but this story didn't
come from the usual sources. I learned about it through
my own family grape Vine. Mike is married to my
first cousin, Kim. My dad heard from his brother, that's
(01:37):
my uncle, that Mike was going to have his stomach
removed because of a gene he had inherited. When I
heard that from my dad, I thought, that's just weird.
Mike's in his thirties. He's entirely healthy. He and Kim
are both fit and active. They have two adorable kids,
a boy and a girl. This to me did not
sound right, So my and I started emailing and researching,
(02:02):
and it turned out this was legit, but it was
also at the cutting edge of medicine, and that's a
really scary place to be. I went to visit them
in South Florida in March. I was coming from Minnesota,
where there was two ft of snow on the ground.
Suddenly it was seventy degrees and sunny. I was meeting
Mike's mom Diane for the first time. Hey, it's so
(02:26):
good to see you too. Brought down this cold weather.
This cold weather, how I'm Michelle. Nice to meet you.
It is beautiful here. What are we talking about the
cold weather? Yea, we love to get piss Believe me,
this is this is the last raw. It didn't take
(02:47):
long for the seriousness of the genetic findings to hit home.
Diane had been tested to see if the breast cancer
she survived fifteen years earlier had a genetic cause. It did,
but it wasn't the one that she expected it and
it wasn't only linked to breast cancer. Mike had also
gotten tested. He was driving when he got the news
(03:07):
that he had it too. He talked with Kim, his wife,
then he called his parents. So I was pretty traumatic
for them, For me, for everybody I think I compared,
it was like a bomb was shopped on our family.
You know. Everything that I had read to that point
was that you pretty much immediately have to have this
surgery done, and I was pretty much preparing myself for that.
(03:28):
It's important to understand why there's such an extreme reaction
to this mutation. It's in a gene called c d
H one, the genes responsible for making a protein that
helps cells stick together. If you have this mutation, cancer
cells don't clump into a tumor that doctors can find. Instead,
(03:49):
they form little independent clusters of cancer. I saw a
picture that reminded me of the lingering seeds that you
find in a supposedly seedless watermelon. There can be dozens
of them, all in the stomach. It's called hereditary diffuse
gastric cancer. So now you have microscopic cells that can
shoot off into your system and start lodging in different
(04:11):
organs in the body, your lung, your liver, the parenteal lining,
which is the lining around your abdominal cavity, and at
that stage it's what we call stage four or metastatic
stomach cancer. That was Vivian Strong, a surgeon a Memorial
Sloane Cattering Cancer Center and an expert in stomach cancer.
When Mike learned he had the mutation in he was
(04:32):
told the lifetime risk of developing stomach cancer can be
as high as seventy or eight That's why surgery is
often considered a no brainer eliminate the risk. But those
numbers may be misleading. They're based on people with the
family history of stomach cancer. But the field is constantly
evolving and improving. Now researchers are finding the mutation more often,
(04:57):
and they suspect the risk of getting cancer for those
without a family history may not be anywhere near but
still high enough to warrant concern. That's the Dylan's conundrum.
What should Mike and Diane do. Sophia Stadler, a medical
oncologist and genetic counselor at Sloan Cattering, knows the uncertainty well.
(05:18):
And so those are the numbers that we have, but
those are based on families who have a history of
hereditary hereditary the fuse gast cancer. So what about those
without a family history. We just don't have enough data
to know what those are. They may very very well
be lower. But how low is that risk? Is the
(05:41):
risk solow that it does not warrants struck to me?
The Dylan family was completely unprepared to learn they had
this mutation. No one had mentioned c d H one.
It's called an incidental finding when doctors are looking for
one thing but come up with something else. Mike's mom, Diane,
had a family history of breast cancer, so she got
(06:04):
tested for a Braca mutation. That's the gene that Angelina
Jolie has, the one that led her to get a
double messed ectomy. But Diane's doctors didn't just look for
the Braca gene. We found out they only they checked
for other things, one being this I guess that came
back and did you know when they were doing the tests? No,
I had no idea. I thought they were just doing
(06:25):
the braca. These incidental findings are happening more and more
often as genetic testing gets easier and cheaper. Rather than
testing patients only for the conditions they're most likely to have,
their doctors are testing them for variants in a bunch
of genes, and patients sometimes get unexpected results, like news
(06:46):
that they have a c d H one mutation. Dr
Stadler's watched the evolution of genetic testing in her practice
at Sloan. Cattering and multigene panel testing is cost efficient.
It's efficient for the patient because you everything all at once.
It's easy for the physician because you check the box.
It's a big panel and you get everything you need right.
(07:07):
A lot of the commercial laboratories have incorporated CBH one
into their generic breast cancer gene panel, even though many
of those breast cancer patients don't actually need criteria for
genetic testing for c DH one. That's how you find
a risk for stomach cancer when you were worried about
(07:29):
breast cancer. The Dylan family. They don't match a single
one of the six criteria that doctors used to consider
a genetic test for a c d H one mutation.
You know there is cancer in my family, breast cancer,
and you ever heard of stomach cancer in your family? Never? No, never.
(07:51):
For some people, finding the mutation isn't a shock, it's
a relief. It's an explanation for what's been devastating their
families for decades. While getting your stomach removed seems drastic,
it is feasible, and it's a way for these families
to ward off an early death, a tragedy some have
seen all too often. That's how it was for another
(08:14):
c d H one patient I talked to. Her name
is Hannah Davis. I met her through an advocacy group
called No Stomach for Cancer. Unlike my cousin's family, Hannah's
family does have a history of stomach cancer. It just
took them a while to figure out the genetic connection.
Hannah's great grandmother died decades ago of abdominal cancer. All
(08:36):
five of her daughters developed breast cancer, and only one
Hannah's grandmother survived. When Hannah's father started having stomach pain
and quickly lost weight, no one put it together. Months later,
he and a cousin were both battling stomach cancer and
they realized maybe this wasn't a coincidence. So they kind
(08:56):
of got to talking and they're like, well, this is
kind of weird. What are the odds that we both
have stomach cancer now? So that kind of opened the
door to all of this testing. It was a c
d H one mutation with high penetrants. That means there
were a lot of affected family members. My dad's brother
and sister both habit. Several of my dad's cousins tested
(09:21):
positive and um then myself and one of my two
brothers tested positive as well. Hannah's dad was in his
fifties when he was diagnosed with cancer. There wasn't much
doctors could do to help him, but there was one
thing that he wanted for his family is dying. Wish
(09:42):
really was for us kids to be tested. And he said,
you know, if you test positive. You need to go
through with the prophylactic total guest strict to me, because
that's that's really the only way to prevent stomach cancer
more people with this gene. Hannah got tested just after
(10:03):
her dad passed away. She was twenty years old when
she found out that she was a carrier, and she
wasn't ready to let a doctor remove her stomach, so
she waited, and she worried. I kind of just thought
of it as like this ticking time bomb and and
my body and I thought about it constantly, but I
(10:24):
just felt like it wasn't the right time, and so
I pursued my undergraduate degree, went to grad school and
actually had my surgery the week before my graduation and
walked to the stage of my graduation um a week
out of having a total gas direct to me, which
was very crazy. The doctors examined her stomach tissue and
(10:48):
found no signs of cancer. But she's still glad she
got the surgery. I have no regrets at all. I
certainly feel this sense of relief. I know it's what
my dad wanted for me. I know, just based off
of the research. Having a chance of developing stomach cancer
(11:08):
at some point in my life. And then, um, not
only that, but just having it be so hard to detect.
And I certainly rocked my world in so many diffront ways,
But I have no regrets whatsoever those kinds of dramatic
stories or what Mike found when he went online to
(11:29):
research the condition, but they didn't really seem to apply
to him and his family. They hired a company to
do a complete medical history of Diane's ancestry going back generations.
There was no smoking gun, no stomach cancer, no early
deaths from cancer, any kind of cancer. Then Mike's internet
(11:51):
searches found Perry Guilford, the researcher who discovered the c
d H one G mutations role in gastric cancer. It
was first found in an indigit in his tribe in
New Zealand. And I sent him an email, UM, not
really expecting response, and I think I got a response
within twenty four hours, and you know, I'd explain the
whole situation now we had no family history of it,
(12:11):
and he was broke back pretty lengthy response, but he
also agreed that you know, running out and having this
surgery immediately it was not something that that I needed
to be focused on at that point, there is another option.
It's a really close monitoring approach called endoscopy. A specialist
put a tube down your throat and takes dozens of
(12:33):
biopsy samples from the stomach a few times each year.
They're looking for the earliest signs of cancer, essentially the
seed in the seedless watermelon, but they do it blindly.
There are no visual cues when the cancer starts to
form and spread, so it's imperfect. Still, since learning she
had the c d H one mutation almost two years ago,
(12:55):
Diane has decided to forego stomach removal and instead have
endos cape's. While she's strong and lively and has no
trouble shepherding a gaggle of her grandchildren at any given time,
she's also tiny. People who have their stomach removed often
lose one fifth of their body weight. Diane doesn't have
an ounce to lose, and at age seventy two, maybe
(13:17):
she's past the cancer risk. I can't let it worry me. Yeah,
I gotta live my life. Um, if I got it,
then you know, if I would address it. But I
just feel right now, you know, I've made it this long,
and I think the doctors are saying, Okay, you know,
maybe you should because we really don't see it in
(13:38):
your family. For Mike, it's a bit of a different story.
Most of that risk is still ahead of him. So
the average age of diagnosis is thirty eight. How old
are you? So does that weigh on you? Yeah? Yeah, definitely.
I mean especially in the beginning when I first, you know,
(13:59):
it's started reading all this and seeing this. But then
I also could look at my mom. She's made it
this long and has had no you know, repercussions from
the gene as far as the stomach goes. So the
boom and genetic testing is profoundly changing the field. It
used to be that the doctors tested cancer patients to
(14:19):
see if they had a gene mutation. Now it's the
other way around. Doctors are trying to predict people with
a gene mutation will get cancer. It turns out the
risk isn't as high as they once expected. This is
Rashid Karen, director of the Ambre Translational Genomics Lab at
Ambrey Genetics and an expert in c d H one mutations.
(14:43):
The risk for the lobular breast cancer and for diffuse
gastric cancer it's definitely higher than in the general population,
but it's not as high as we thought initially in
the last decade. Previously, people would say that you have
eight risk of developing gastric cancer if you have a
pathogenic mutation in stage one, So that's a pretty high risk.
(15:08):
That would be a terrifying thing to read, right exactly. Yea,
so that's what we used to say. What is the
current understanding of what the risk is. So now we
believe the data shows us that the risk is more
around twenty for gastric cancer, and for women. The risk
(15:29):
of global best cancer is also around He was emphatic
that this lower percentage is still a really big problem.
For comparison, about ten of smokers develop lung cancer, so
this is even higher than that. I do want to
stress this diffused gastric cancer is a very deadly disease.
(15:51):
It's very hard to diagnose when it's too treatable. That's
the benefit of the surgery. Their chance of developing gas
cancer are are virtually none. The field is also evolving
in other ways. As scientists find more c d H
one mutations, they're also learning more about them. My name
(16:12):
is from I'm a physician, scientist and searching oncologies. Here
in the Rare Humor initiative of the National Cancer Institute,
someone like Dr rute Law can do a deep dive
on the specific gene variant itself, the one that's inside
of you or in this case, the one that's inside
of Mike and Diane. Not all changes are the same,
(16:35):
so they really are not created equal. So, for example,
when the genetic report comes out, the mutation itself needs
to undergo a really rigorous vetting process to find out
like where is it located, how does it affect them?
Genet a significant differences in how strongly they are associated
(16:57):
with the Kansas syndrome BOSS gastly cancer and the risk
of developing press cancer. So he looked at Mike and
Diane's mutation. It's pathogenic, which means it can cause disease,
and it's a deletion which makes the gene itself abnormal,
not functioning. But it occurs late in the gene, which
(17:18):
is good news. That's generally associated with the lower risk
of gastric cancer. But this is all really preliminary information.
When you look overall to c d H one motions
which had this type of mtation, which is very late
in the gene. You do find a robust decrease in
the number of patients affected by a ghastly cancer and
(17:39):
then the number of patients who get the ghastly cancer
at a young age. But you cannot risk that your
cousin is this one outlier, and because the results can
be so dire, this can literally be a life or
death situation. Most doctors air on the side of caution.
That's the reason why the current recommendation's current is still
(18:01):
for created in thirty years of age for these patients
and to undergo stomach remove you definitely also do not
want to rule them here. Diffuse, ghastly cans, which is
spent to lymph nodes or beyond the stomach, is an
incurable condition and there's no effective treatment in the form
(18:21):
of chemo, immuno or targeted therapy available for that. So
what's life like without a stomach? The operation itself is simple.
Doctor's cut out your stomach, then attach your esophagus directly
to your small intestine and they sew you back up.
It's like a really radical version of weight loss surgery.
(18:44):
Adjusting to the change isn't as easy. Here's Hannah again.
Remember she had her stomach removed at the age of two. Um,
it's crazy, it will be two years in May. At first,
it's so hard, you're kind of like learning how to
eat again. You're eating the size of a golf ball,
and it's extremely confusing and kind of messes with your head.
(19:07):
But I've I've definitely reached a new normal and I
enjoy pretty much everything that I used to enjoy. The
thing that surprised me most you don't actually need your stomach.
It's a bit of a holdover from an earlier evolutionary time,
a pouch that allowed you to store extra food. Here's
(19:28):
doctor Strong from Sloane Cattering. So the stomach is really
it serves as a nice reservoir for you to eat
bigger portions of food. The absorption of all the new
trees that you that you need. It happens in your
small intestine, not in your stomach. There's also the weight issue.
People lose about their body weight in the first six months,
then they stabilize and even gain it back. Doctor Strong
(19:52):
sees it quite a lot. I've had many patients come
back to me about six months later and they said,
are you sure you took my stomach out because I
feel like I can eat normally. Not everyone is like that.
There's some patients who struggle, but there are a good
number of patients who really go back to eating so
comfortably that they say it really doesn't affect their everyday life.
(20:13):
I even have a few patients who to three years
after total guests tructy have ended up joining weight watchers
because they wanted to lose some weight. In the past
eighteen months, I've talked to dozens of doctors and researchers.
I've read scores of papers. I've talked to Mike and
(20:35):
Diane and Hannah and a handful of other patients. This
is what I've learned. It's all really early. There are
only about two families with c d H one mutations
who have been studied by researchers. While geneticists and oncologists
and surgeons are trying to predict the future, there's just
not enough information. In the end, it's a gamble, one
(20:57):
that each patient has to make on their own. So
the plan at this point is just really to kind
of keep doing what I'm doing and going up to
New York every six months, um, you know, letting them
look and give me a course of actually needs to
be Mike has had six endoscopies in the past eighteen months,
and now he's going twice a year to Sloan Cattering
in New York to keep them up. He also has
(21:20):
a personal doctor and an oncologist in Florida. But you know,
there's got to be some percentage for me of chance
of getting it, and it's just what can you live with?
And well, yeah, right now, I guess I can live
with whatever it is because I'm you know, this is
what I'm what I'm going to do, you know again,
(21:40):
And in my mind, whether it's five or ten years
from now, if if nothing's changed, I probably will go
forward with surgery. You know. At this point, I'm just
gonna stick with what I'm doing. If he had the surgery,
he wouldn't have any risk, but he also wouldn't have
any information to share with his family. So does it
(22:00):
weigh on you emotionally to have this diagnosis. It does
weigh on me, not as much as it did initially,
because I think I'm doing a lot of the right
things by seeing all these different doctors. Probably the biggest
reason to not do it is more So for my kids,
the longer I go without having this cancer is tells
(22:21):
them more what you know, haning forbid they have this
gene in the future, what they may need to do. So,
you know, I'd like to go as long as I
can without without doing any drastic steps to see if
that this gene does affect us. Let me tell you
from me and everyone in my family, we're praying that
(22:42):
this cancer doesn't become part of the medical history for
Diane and Mike and his kids. That's it for this
week's prognosis. Thanks for listening. Do you have a story
about healthcare and the s or around the world we
want to hear from you. Find me on Twitter at
(23:04):
the Cortes or email m Cortes at Bloomberg dot net.
If you're a fan of this episode, please take a
minute to rate and review us. It really helps new
listeners find the show, and don't forget to subscribe. This
episode was produced by Lindsay Cratterwell. Our story editors were
Drew Armstrong and Rick Shine. Francesca Leavie has had a
Bloomberg Podcasts. We'll be back in two weeks on with
(23:28):
a new episode. See you then,
Genetic testing in medicine has been a huge force for good.
But what happens when your test results come back with
bizarre findings and your doctor advises you to take immediate
radical steps. They said, we really need to see you
in and they came and said you have to have
your stomach remy and I went what they said, Yes,
you need to immediately, you know, And it kind of
(00:26):
just sounded like nonsense of me. Honestly, I blew it
off and I was like, Okay, well, you know, I'm
not paying attention to that. Diane Dillon got the shock
of her life when she found out she had a
rare genetic mutation that doctors told her can cause stomach cancer,
a terrible, hard to detect form of the disease that
can quickly turn fatal. Her son might had it too.
(00:50):
No one in the family had ever heard of the
disease or the gene when they found out they were carriers.
In the fall of that's not surprising. It's extremely rare.
There are only a few hundred families with the mutation
who have been studied by researchers. But the doctors were
telling both Mike and Diane they needed to have their
stomachs removed urgently. Welcome to Prognosis, Bloomberg's podcast about the
(01:16):
intersection of health and technology and the unexpected places it's
taking us. I'm a healthcare reporter, but this story didn't
come from the usual sources. I learned about it through
my own family grape Vine. Mike is married to my
first cousin, Kim. My dad heard from his brother, that's
(01:37):
my uncle, that Mike was going to have his stomach
removed because of a gene he had inherited. When I
heard that from my dad, I thought, that's just weird.
Mike's in his thirties. He's entirely healthy. He and Kim
are both fit and active. They have two adorable kids,
a boy and a girl. This to me did not
sound right, So my and I started emailing and researching,
(02:02):
and it turned out this was legit, but it was
also at the cutting edge of medicine, and that's a
really scary place to be. I went to visit them
in South Florida in March. I was coming from Minnesota,
where there was two ft of snow on the ground.
Suddenly it was seventy degrees and sunny. I was meeting
Mike's mom Diane for the first time. Hey, it's so
(02:26):
good to see you too. Brought down this cold weather.
This cold weather, how I'm Michelle. Nice to meet you.
It is beautiful here. What are we talking about the
cold weather? Yea, we love to get piss Believe me,
this is this is the last raw. It didn't take
(02:47):
long for the seriousness of the genetic findings to hit home.
Diane had been tested to see if the breast cancer
she survived fifteen years earlier had a genetic cause. It did,
but it wasn't the one that she expected it and
it wasn't only linked to breast cancer. Mike had also
gotten tested. He was driving when he got the news
(03:07):
that he had it too. He talked with Kim, his wife,
then he called his parents. So I was pretty traumatic
for them, For me, for everybody I think I compared,
it was like a bomb was shopped on our family.
You know. Everything that I had read to that point
was that you pretty much immediately have to have this
surgery done, and I was pretty much preparing myself for that.
(03:28):
It's important to understand why there's such an extreme reaction
to this mutation. It's in a gene called c d
H one, the genes responsible for making a protein that
helps cells stick together. If you have this mutation, cancer
cells don't clump into a tumor that doctors can find. Instead,
(03:49):
they form little independent clusters of cancer. I saw a
picture that reminded me of the lingering seeds that you
find in a supposedly seedless watermelon. There can be dozens
of them, all in the stomach. It's called hereditary diffuse
gastric cancer. So now you have microscopic cells that can
shoot off into your system and start lodging in different
(04:11):
organs in the body, your lung, your liver, the parenteal lining,
which is the lining around your abdominal cavity, and at
that stage it's what we call stage four or metastatic
stomach cancer. That was Vivian Strong, a surgeon a Memorial
Sloane Cattering Cancer Center and an expert in stomach cancer.
When Mike learned he had the mutation in he was
(04:32):
told the lifetime risk of developing stomach cancer can be
as high as seventy or eight That's why surgery is
often considered a no brainer eliminate the risk. But those
numbers may be misleading. They're based on people with the
family history of stomach cancer. But the field is constantly
evolving and improving. Now researchers are finding the mutation more often,
(04:57):
and they suspect the risk of getting cancer for those
without a family history may not be anywhere near but
still high enough to warrant concern. That's the Dylan's conundrum.
What should Mike and Diane do. Sophia Stadler, a medical
oncologist and genetic counselor at Sloan Cattering, knows the uncertainty well.
(05:18):
And so those are the numbers that we have, but
those are based on families who have a history of
hereditary hereditary the fuse gast cancer. So what about those
without a family history. We just don't have enough data
to know what those are. They may very very well
be lower. But how low is that risk? Is the
(05:41):
risk solow that it does not warrants struck to me?
The Dylan family was completely unprepared to learn they had
this mutation. No one had mentioned c d H one.
It's called an incidental finding when doctors are looking for
one thing but come up with something else. Mike's mom, Diane,
had a family history of breast cancer, so she got
(06:04):
tested for a Braca mutation. That's the gene that Angelina
Jolie has, the one that led her to get a
double messed ectomy. But Diane's doctors didn't just look for
the Braca gene. We found out they only they checked
for other things, one being this I guess that came
back and did you know when they were doing the tests? No,
I had no idea. I thought they were just doing
(06:25):
the braca. These incidental findings are happening more and more
often as genetic testing gets easier and cheaper. Rather than
testing patients only for the conditions they're most likely to have,
their doctors are testing them for variants in a bunch
of genes, and patients sometimes get unexpected results, like news
(06:46):
that they have a c d H one mutation. Dr
Stadler's watched the evolution of genetic testing in her practice
at Sloan. Cattering and multigene panel testing is cost efficient.
It's efficient for the patient because you everything all at once.
It's easy for the physician because you check the box.
It's a big panel and you get everything you need right.
(07:07):
A lot of the commercial laboratories have incorporated CBH one
into their generic breast cancer gene panel, even though many
of those breast cancer patients don't actually need criteria for
genetic testing for c DH one. That's how you find
a risk for stomach cancer when you were worried about
(07:29):
breast cancer. The Dylan family. They don't match a single
one of the six criteria that doctors used to consider
a genetic test for a c d H one mutation.
You know there is cancer in my family, breast cancer,
and you ever heard of stomach cancer in your family? Never? No, never.
(07:51):
For some people, finding the mutation isn't a shock, it's
a relief. It's an explanation for what's been devastating their
families for decades. While getting your stomach removed seems drastic,
it is feasible, and it's a way for these families
to ward off an early death, a tragedy some have
seen all too often. That's how it was for another
(08:14):
c d H one patient I talked to. Her name
is Hannah Davis. I met her through an advocacy group
called No Stomach for Cancer. Unlike my cousin's family, Hannah's
family does have a history of stomach cancer. It just
took them a while to figure out the genetic connection.
Hannah's great grandmother died decades ago of abdominal cancer. All
(08:36):
five of her daughters developed breast cancer, and only one
Hannah's grandmother survived. When Hannah's father started having stomach pain
and quickly lost weight, no one put it together. Months later,
he and a cousin were both battling stomach cancer and
they realized maybe this wasn't a coincidence. So they kind
(08:56):
of got to talking and they're like, well, this is
kind of weird. What are the odds that we both
have stomach cancer now? So that kind of opened the
door to all of this testing. It was a c
d H one mutation with high penetrants. That means there
were a lot of affected family members. My dad's brother
and sister both habit. Several of my dad's cousins tested
(09:21):
positive and um then myself and one of my two
brothers tested positive as well. Hannah's dad was in his
fifties when he was diagnosed with cancer. There wasn't much
doctors could do to help him, but there was one
thing that he wanted for his family is dying. Wish
(09:42):
really was for us kids to be tested. And he said,
you know, if you test positive. You need to go
through with the prophylactic total guest strict to me, because
that's that's really the only way to prevent stomach cancer
more people with this gene. Hannah got tested just after
(10:03):
her dad passed away. She was twenty years old when
she found out that she was a carrier, and she
wasn't ready to let a doctor remove her stomach, so
she waited, and she worried. I kind of just thought
of it as like this ticking time bomb and and
my body and I thought about it constantly, but I
(10:24):
just felt like it wasn't the right time, and so
I pursued my undergraduate degree, went to grad school and
actually had my surgery the week before my graduation and
walked to the stage of my graduation um a week
out of having a total gas direct to me, which
was very crazy. The doctors examined her stomach tissue and
(10:48):
found no signs of cancer. But she's still glad she
got the surgery. I have no regrets at all. I
certainly feel this sense of relief. I know it's what
my dad wanted for me. I know, just based off
of the research. Having a chance of developing stomach cancer
(11:08):
at some point in my life. And then, um, not
only that, but just having it be so hard to detect.
And I certainly rocked my world in so many diffront ways,
But I have no regrets whatsoever those kinds of dramatic
stories or what Mike found when he went online to
(11:29):
research the condition, but they didn't really seem to apply
to him and his family. They hired a company to
do a complete medical history of Diane's ancestry going back generations.
There was no smoking gun, no stomach cancer, no early
deaths from cancer, any kind of cancer. Then Mike's internet
(11:51):
searches found Perry Guilford, the researcher who discovered the c
d H one G mutations role in gastric cancer. It
was first found in an indigit in his tribe in
New Zealand. And I sent him an email, UM, not
really expecting response, and I think I got a response
within twenty four hours, and you know, I'd explain the
whole situation now we had no family history of it,
(12:11):
and he was broke back pretty lengthy response, but he
also agreed that you know, running out and having this
surgery immediately it was not something that that I needed
to be focused on at that point, there is another option.
It's a really close monitoring approach called endoscopy. A specialist
put a tube down your throat and takes dozens of
(12:33):
biopsy samples from the stomach a few times each year.
They're looking for the earliest signs of cancer, essentially the
seed in the seedless watermelon, but they do it blindly.
There are no visual cues when the cancer starts to
form and spread, so it's imperfect. Still, since learning she
had the c d H one mutation almost two years ago,
(12:55):
Diane has decided to forego stomach removal and instead have
endos cape's. While she's strong and lively and has no
trouble shepherding a gaggle of her grandchildren at any given time,
she's also tiny. People who have their stomach removed often
lose one fifth of their body weight. Diane doesn't have
an ounce to lose, and at age seventy two, maybe
(13:17):
she's past the cancer risk. I can't let it worry me. Yeah,
I gotta live my life. Um, if I got it,
then you know, if I would address it. But I
just feel right now, you know, I've made it this long,
and I think the doctors are saying, Okay, you know,
maybe you should because we really don't see it in
(13:38):
your family. For Mike, it's a bit of a different story.
Most of that risk is still ahead of him. So
the average age of diagnosis is thirty eight. How old
are you? So does that weigh on you? Yeah? Yeah, definitely.
I mean especially in the beginning when I first, you know,
(13:59):
it's started reading all this and seeing this. But then
I also could look at my mom. She's made it
this long and has had no you know, repercussions from
the gene as far as the stomach goes. So the
boom and genetic testing is profoundly changing the field. It
used to be that the doctors tested cancer patients to
(14:19):
see if they had a gene mutation. Now it's the
other way around. Doctors are trying to predict people with
a gene mutation will get cancer. It turns out the
risk isn't as high as they once expected. This is
Rashid Karen, director of the Ambre Translational Genomics Lab at
Ambrey Genetics and an expert in c d H one mutations.
(14:43):
The risk for the lobular breast cancer and for diffuse
gastric cancer it's definitely higher than in the general population,
but it's not as high as we thought initially in
the last decade. Previously, people would say that you have
eight risk of developing gastric cancer if you have a
pathogenic mutation in stage one, So that's a pretty high risk.
(15:08):
That would be a terrifying thing to read, right exactly. Yea,
so that's what we used to say. What is the
current understanding of what the risk is. So now we
believe the data shows us that the risk is more
around twenty for gastric cancer, and for women. The risk
(15:29):
of global best cancer is also around He was emphatic
that this lower percentage is still a really big problem.
For comparison, about ten of smokers develop lung cancer, so
this is even higher than that. I do want to
stress this diffused gastric cancer is a very deadly disease.
(15:51):
It's very hard to diagnose when it's too treatable. That's
the benefit of the surgery. Their chance of developing gas
cancer are are virtually none. The field is also evolving
in other ways. As scientists find more c d H
one mutations, they're also learning more about them. My name
(16:12):
is from I'm a physician, scientist and searching oncologies. Here
in the Rare Humor initiative of the National Cancer Institute,
someone like Dr rute Law can do a deep dive
on the specific gene variant itself, the one that's inside
of you or in this case, the one that's inside
of Mike and Diane. Not all changes are the same,
(16:35):
so they really are not created equal. So, for example,
when the genetic report comes out, the mutation itself needs
to undergo a really rigorous vetting process to find out
like where is it located, how does it affect them?
Genet a significant differences in how strongly they are associated
(16:57):
with the Kansas syndrome BOSS gastly cancer and the risk
of developing press cancer. So he looked at Mike and
Diane's mutation. It's pathogenic, which means it can cause disease,
and it's a deletion which makes the gene itself abnormal,
not functioning. But it occurs late in the gene, which
(17:18):
is good news. That's generally associated with the lower risk
of gastric cancer. But this is all really preliminary information.
When you look overall to c d H one motions
which had this type of mtation, which is very late
in the gene. You do find a robust decrease in
the number of patients affected by a ghastly cancer and
(17:39):
then the number of patients who get the ghastly cancer
at a young age. But you cannot risk that your
cousin is this one outlier, and because the results can
be so dire, this can literally be a life or
death situation. Most doctors air on the side of caution.
That's the reason why the current recommendation's current is still
(18:01):
for created in thirty years of age for these patients
and to undergo stomach remove you definitely also do not
want to rule them here. Diffuse, ghastly cans, which is
spent to lymph nodes or beyond the stomach, is an
incurable condition and there's no effective treatment in the form
(18:21):
of chemo, immuno or targeted therapy available for that. So
what's life like without a stomach? The operation itself is simple.
Doctor's cut out your stomach, then attach your esophagus directly
to your small intestine and they sew you back up.
It's like a really radical version of weight loss surgery.
(18:44):
Adjusting to the change isn't as easy. Here's Hannah again.
Remember she had her stomach removed at the age of two. Um,
it's crazy, it will be two years in May. At first,
it's so hard, you're kind of like learning how to
eat again. You're eating the size of a golf ball,
and it's extremely confusing and kind of messes with your head.
(19:07):
But I've I've definitely reached a new normal and I
enjoy pretty much everything that I used to enjoy. The
thing that surprised me most you don't actually need your stomach.
It's a bit of a holdover from an earlier evolutionary time,
a pouch that allowed you to store extra food. Here's
(19:28):
doctor Strong from Sloane Cattering. So the stomach is really
it serves as a nice reservoir for you to eat
bigger portions of food. The absorption of all the new
trees that you that you need. It happens in your
small intestine, not in your stomach. There's also the weight issue.
People lose about their body weight in the first six months,
then they stabilize and even gain it back. Doctor Strong
(19:52):
sees it quite a lot. I've had many patients come
back to me about six months later and they said,
are you sure you took my stomach out because I
feel like I can eat normally. Not everyone is like that.
There's some patients who struggle, but there are a good
number of patients who really go back to eating so
comfortably that they say it really doesn't affect their everyday life.
(20:13):
I even have a few patients who to three years
after total guests tructy have ended up joining weight watchers
because they wanted to lose some weight. In the past
eighteen months, I've talked to dozens of doctors and researchers.
I've read scores of papers. I've talked to Mike and
(20:35):
Diane and Hannah and a handful of other patients. This
is what I've learned. It's all really early. There are
only about two families with c d H one mutations
who have been studied by researchers. While geneticists and oncologists
and surgeons are trying to predict the future, there's just
not enough information. In the end, it's a gamble, one
(20:57):
that each patient has to make on their own. So
the plan at this point is just really to kind
of keep doing what I'm doing and going up to
New York every six months, um, you know, letting them
look and give me a course of actually needs to
be Mike has had six endoscopies in the past eighteen months,
and now he's going twice a year to Sloan Cattering
in New York to keep them up. He also has
(21:20):
a personal doctor and an oncologist in Florida. But you know,
there's got to be some percentage for me of chance
of getting it, and it's just what can you live with?
And well, yeah, right now, I guess I can live
with whatever it is because I'm you know, this is
what I'm what I'm going to do, you know again,
(21:40):
And in my mind, whether it's five or ten years
from now, if if nothing's changed, I probably will go
forward with surgery. You know. At this point, I'm just
gonna stick with what I'm doing. If he had the surgery,
he wouldn't have any risk, but he also wouldn't have
any information to share with his family. So does it
(22:00):
weigh on you emotionally to have this diagnosis. It does
weigh on me, not as much as it did initially,
because I think I'm doing a lot of the right
things by seeing all these different doctors. Probably the biggest
reason to not do it is more So for my kids,
the longer I go without having this cancer is tells
(22:21):
them more what you know, haning forbid they have this
gene in the future, what they may need to do. So,
you know, I'd like to go as long as I
can without without doing any drastic steps to see if
that this gene does affect us. Let me tell you
from me and everyone in my family, we're praying that
(22:42):
this cancer doesn't become part of the medical history for
Diane and Mike and his kids. That's it for this
week's prognosis. Thanks for listening. Do you have a story
about healthcare and the s or around the world we
want to hear from you. Find me on Twitter at
(23:04):
the Cortes or email m Cortes at Bloomberg dot net.
If you're a fan of this episode, please take a
minute to rate and review us. It really helps new
listeners find the show, and don't forget to subscribe. This
episode was produced by Lindsay Cratterwell. Our story editors were
Drew Armstrong and Rick Shine. Francesca Leavie has had a
Bloomberg Podcasts. We'll be back in two weeks on with
(23:28):
a new episode. See you then,
Host
Jason Gale
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