Every once
in a while, there is a news story related to health that I feel compelled to
talk about. Angelina Jolie’s op-ed in
the New York Times about undergoing a prophylactic mastectomy, My Medical Choice, is one of them.
(It really
is a must-read if you haven’t read it yet).
I had to
write about her. I have heard many
examples of this over the last few years, but this is the biggest, most visible
example.
Women in
the 1960s burned their bras. Maybe ours
is the generation who cuts off our breasts – we don’t need them and they’re
killing us?
There are
a variety of issues I find with Jolie’s case.
I’ll briefly mention them, even though I don’t want that to be the focus
of this post. She’s a celebrity,
therefore she has money and resources that many women don’t have access
to. Not only is genetic testing
expensive, so is the surgery, which may not be covered by insurance. She makes the mastectomy sound minor. Maybe it’s because she wasn’t going through
cancer treatment at the same time, but it seems to me that she is minimizing
the procedure. She also had
reconstruction done almost right away, whereas many women have to wait years to
do it.
Another
issue is that discrimination based on the results of genetic testing is a
significant concern (Klitzman 2011) – potentially not in Jolie’s case because she
is so visible, but for the general population– especially in the areas of
insurance and employment (Penziner, et al. 2008).
Since I
have not been directly genetically impacted by breast cancer (a non-blood aunt
had it, but – knock on wood – my immediate family has not been impacted by it),
I don’t want that to be the focus of this post.
I want to
talk about genetic testing in general, and what it would look like for lupus
and rheumatoid arthritis, in particular.
I recently
wrote an article for HealthCentral about my sister’s risk of lupus and RA. In that article, Hoping My Sister and I
Share Everything But My Illnesses, I talk about the dilemmas that come with
having a disease that most likely has some genetic component to it, and what
this means for immediate family members.
My sister
is 18. She, as of now, has no symptoms
or medical conditions that would suggest that she may have lupus or RA. As of yet, there are no medical tests that
will give definitive answers about predisposition to lupus and RA, as there are
for conditions like Breast Cancer and Huntington’s Disease. But she could potentially undergo diagnostic
tests to see if she has a positive ANA, elevated Rheumatoid Factor and
Sedimentation Rate, etc., which could point to having the disease, but not yet
being symptomatic.
But what
would this do for her? And what would it
do to me?
As I said
in the HealthCentral post, she was very young, just 13, when I first got
seriously sick five years ago. While she
knows what illnesses I have, and generally how I feel, I haven’t gone into
detail with her about the litany of symptoms and problems that lupus and RA can
create. Every time she is tired, or has
an ache or a pain, I don’t want her to automatically assume that she has lupus
or RA.
I
personally think, since she is young and healthy, that it is needless to make
her worry about something that likely may never be an issue for her.
But the era of genetic testing has opened up a brave, new world.
The
availability of genetic tests is growing by the day. There are currently around 1,000 tests
available. This means that we are faced
more and more with decisions regarding our bodies and their future viability.
We can
learn more about ourselves and our bodies than ever before. But what do we do with that information? Do we wield it for good or evil or a
combination of the two?
In this
case, what you don’t know can hurt you.
However, what you can find out can hurt you both physically and
emotionally.
For
instance, if someone has a parent with Huntington’s Disease, they might get the
disease, but they also may never get it (to be precise, a child has a 50%
chance of getting Huntington’s Disease if they have one parent who is affected
by the disease). So how do you live with
that information?
Maybe if
you have a plan: If I test positive, I’m going to do X. But if you get that information and you don’t
have a plan, then what?
We all
have choices to make, both those who are already chronically ill and those who
are not yet sick.
For
Angelina Jolie, because she was found to carry the BRCA1 mutation, it was
determined that her risk for developing breast cancer is 87%, and 50% for
ovarian cancer. For her, odds that were just
too great.
Some of
the positives of getting genetic testing are that the results might make you
less worried about getting a disease, and that you can change your lifestyle
and try to minimize your risk of getting a disease (FamilyDoctor.Org 2010). In Jolie’s case, that meant having a
prophylactic mastectomy to decrease her risk of breast cancer from 87% to under
5%.
Some
negatives of genetic testing are that the results might make you more worried, and
they might cause stress and guilt, and could cause family problems, and could
lead to discrimination (FamilyDoctor.Org 2010).
In the case of Huntington’s Disease, those who undergo predictive
testing have been found to have an increased risk of suicide (Robins Wahlin
2007).
This issue
is not clear cut. And it is a personal
choice; both whether you choose to get the information provided by genetic
testing at all, and what you do once you have that information.
Since this
is a personal choice, and should be respected as such, just as people have the
right to know, they have the right not to know, as well (Bortolotti and Widdows
2011).
Ignorance
may not be bliss, but for some people, it is more worth it to go about their
lives without being constantly worried.
For others, getting tested might provide peace of mind.
I think
Angelina Jolie made a brave choice. I
commend her for opening up about her journey.
She picked hopefully having the years her mother didn’t have over
keeping a part of her body that could potentially kill her. She is not the first, nor will she be the
last woman, to make this choice. I know
there are women out there who think a prophylactic mastectomy is too extreme.
And I am
not sure what I would do if I were in that position, about testing and what
comes after. Just as I am not sure what
I would do if the landscape of genetic testing looked different.
If there
were genetic tests available to predict the onset of lupus and RA, or even
other autoimmune diseases, would I urge my sister to get tested? Ultimately, it would be her decision. It’s her body and her choice. That might sound cliché, but that’s the reality
of the situation.
And that
is something we cannot lose sight of.
Just because we have medical technology available, do we have to use
it? Should we be offering predictive
testing for diseases for which there is no cure? Or do we offer hope to those who feel
empowered by having that information?
References
Bortolotti,
Lisa, and Heather Widdows. 2011. “The Right Not to Know: The Case of
Psychiatric Disorders.” Journal of
Medical Ethics 37 (11): 673-676.
FamilyDoctor.Org.
2010. “Genetic Testing: What You Should Know.” <http://familydoctor.org/familydoctor/en/prevention-wellness/staying-healthy/healthy-living/genetic-testing-what-you-should-know.html>
Klitzman,
Robert. 2010. “Views of Discrimination among Individuals Confronting Genetic
Disease.” Journal of Genetic Counseling
19 (1): 68-83.
Penziner,
Elizabeth, Janet K. Williams, Cheryl Erwin, Yvonne Bombard, Anne Wallis, Leigh
J. Beglinger, Michael R. Hayden, and Jane S. Paulsen. 2008. “Perceptions of
Discrimination Among Persons who Have Undergone Predictive Testing for
Huntington’s Disease.” American Journal of Medical Genetics B Neuropsychiatric
Genetics 147 (3):320-325.
Robins
Wahlin, Tarja-Brita. 2007. “To Know or Not to Know: A Review of Behaviour and
Suicidal Ideation in Preclinical Huntington’s Disease.” Patient Education & Counseling 65 (3): 279-287.
Several years ago, I was at an RA forum hosted by The Arthritis Society here in Canada. The keynote speaker was Dr. Edward Keystone, one of the leading rheumatologists up here. He talked about the anti-CCP test and how it can be positive 15 years before RA is noticeable enough to get diagnosed. He also talked about how research is starting to focus on how to find a way to use this fact to turn off RA before it starts.
ReplyDeleteI think for me, it depends on what it's possible to do about the knowledge. Can you save your life? Can you minimize the impact of the disease? We know that it is vital to treat RA early and aggressively, that if this gets done in the first 3 months, there's a much, much better chance of remission. The problem is that by the time most people get to a rheumatologist, it's way past 3 months and then you have to wait another 2 for MTX to kick in. Would regular testing leapfrog that process, thereby increasing chances of long-term functioning? Then it might be worth it.
Then you have to weigh that against the 5% risk of first-degree relatives of getting RA. It's not a very big risk - is it worth the paranoia and upset? In yours and my case where we're the only people in our family with RA, probably not. For people whose mothers and grandmothers had RA, it might be a different story.
You're right. Angelina Jolie made us all think.
I have lupus. My grandmother and my daughter have celiac. Of my grandmother's family of 9 siblings, every one has at least one (or more) grandchildren with juvenile diabetes. I have 2 first cousins once removed who have lupus. Lupus, celiac and juvenile diabetes share the same genome group. Given that we have known for years that early introduction of cows milk is linked with juvenile diabetes, I would heartily recommend avoiding cows milk as an infant, and also avoiding gluten. I think these things will be translated into more precise scientific studies and recommendations in the future, but having implemented avoiding dairy and gluten, I can say that my lupus symptoms are in better control, and I can move so much better than before I did that.
ReplyDeleteSomething to consider.
@Lene, you make some really good points. I did not realize the whole first 3 months thing. My diagnosis was way past that. I agree that if it could be caught early, it is probably worth it, given that so much of the future - remission - may depend on that.
ReplyDelete