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The Family Curse
Testing for the "Breast Cancer
Gene"
by Kelly
Phelan Barnhart
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The first time my mother was
diagnosed with breast cancer, I was twelve. Although the diagnosis
wasn't a surprise to her, it was a shock to me. I knew that my
grandmother had died young, but no one talked much about breast cancer
back then, and I had not known that she and all four of her sisters
(one had ovarian cancer) had greeted their early forties with the same
news, a death sentence for them all in those days. Their father, my
great-grandfather, had seen other family members succumb to cancer
before losing all five of his daughters the same awful way. Mom put on a brave face, but given
her family history, she was
terrified. |
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This timeless beauty was my grandmother, Beatrice Leary
Riley. She was one of
five sisters, all of whom died from breast cancer in their forties. |
This was the 1970’s, however, and Mom survived. As
the youngest of her four children, I was the last still living at home
after my sister Kerin started college that year. My mother was a very private
person, and only my father and I knew how
difficult the recovery from that first radical mastectomy was for her. I
spent my afternoons trying to look after her and keep up her rigorous
standards of housekeeping, and my nights at the top of the stairs
listening to her sobbing in my father’s arms. She was in constant pain,
and it was a year before she was able to resume a somewhat normal routine.
The next diagnosis came the day of my high school
graduation. Breast cancer, again. Dad asked me to take the summer
off from work to take care of Mom. I braced myself for another painful journey,
and it was, but
this time, the recovery was easier, and she was back on her feet by the fall.
Vigilant screening had meant an earlier diagnosis and less radical
surgery. During the next eleven years, her health was poor, but she was
cancer-free.
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Mom lived past the age of 50, something that none of
the generation of women before her had done. But sadly, as she turned 60, news of a new cancer
put a halt to our hope. It was ovarian this time. Mom celebrated her 39th
wedding anniversary surrounded by family and then slipped away.
There
is a certain formative effect to growing up in
a family dealing with cancer. I
developed a passionate new appreciation for life. I was the
good girl at home, not to add to my parents' worry, and admittedly a bit of a hellion outside of it,
making sure that wherever I went, I would be remembered. I stopped taking my
family for granted and boldly added "I love you" to our
inter-parental and sibling vocabulary. It was awkward at first, but it
caught on quickly. I began
watching old movies and collecting antiques, finding myself
drawn to objects and places with a sense of history, of longevity. While I could envision
myself in my 20’s, 30’s and 40’s, later years did not seem inevitable.
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My mother, Gail Riley Phelan, battled cancer for seventeen years. She
died when I was 30 and never knew my son. |
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When I fell crazy in love with my husband David and we talked
about a future together, I had to ask myself if he was the kind of person
who could really be there in sickness, love me through disfigurement, or
even raise our children without me. Thankfully, the answer was a
resounding yes, and I
married him, heart and soul.
When I opened my first 401K, I couldn't
help sarcastically thinking that it would someday buy my husband and his next
wife a beautiful home in a sunny place by the ocean for their retirement. I rarely dare to think about myself as an old woman
or grandmother. I
live in the moment, laugh at every opportunity and celebrate each day regardless of weather, work, or worry.
People wonder why I always seem to have a smile on my face; it’s a mindset,
a freedom from the small stuff,
borne of living with the lurking threat of cancer.
Now, I'm blessed to have fallen madly in love
again – with my
bright, handsome and delightful three-year-old son, Jack. For him especially, I must face my probable future
and set
out on a new path of medical discovery and cutting-edge strategy. I
resolve to to take every possible avenue be here, alive, to love and guide him as he grows
to find his place in this world.
Soon after my
mother’s passing in 1994, I began to hear about the discovery of a
predictive gene for hereditary
breast cancer. My physician and gynecologist both encouraged me to look
into testing for it. Having seen my mother become uninsurable, and my father miss some
fantastic career opportunities, I considered taking the test as a Jane
Doe, at considerable expense. My state representative, active in genetic
anti-discrimination legislation, suggested I wait for the laws to catch up
with this speeding new science.
Besides the financial implications of a positive
result, there is much discussion around the emotional impact of testing,
of seeing into one’s own future. Many friends asked why I would want to
know, and whether I could handle it if the result were positive.
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For me, the answer was an easy one. Only a negative
result would surprise me. A pink ribbon in the crystal ball would be what I had always
prepared myself for anyway. As I approached my late 30’s, laws were passed
that protect patients from discrimination based on genetic testing. My
health plan approved the test. The support of my husband and wanting to
see my son grow into adulthood made the decision to be proactive an easy
one to make.
I was scheduled to see a preeminent specialist at Dana
Farber when my sister Kerin, 42, called to give me her bad news. Cancer,
of course. We saw Dr. Judy Garber together. |
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Me and my sisters Kathleen and
Kerin (and that's our brother Jim windsurfing over my
shoulder) are the latest generation to come of
age – the age of onset of what we like to call the "damn disease." |
I had blood drawn and sent to Myriad Labs in Nevada
for the test. A month later, David and I went to Boston for the results.
When the genetic counselor saw me in the waiting area, she averted my
eyes, touched me on the shoulder, and said she would be right with us. I
whispered to Dave, “Oh, shit. I have it.”
We were escorted to a room and
chatted emptily while we waited for Dr. Garber. When she finally arrived,
my presumption was confirmed. I was indeed a sitting duck, next
in line to suffer the family curse should I do nothing. The impact of the
news took my breath for a moment as David held me. He anxiously started making circles on my back with his hand. I
focused on the warmth of his touch, drew
strength and a gasp of air, and we moved on to asking questions and discussing options.
As I already knew from my research, the best course
of action for a positive diagnosis of BRCA1 (the scientific designation of the
flawed gene) is bilateral mastectomy (surgical removal of both breasts) and
removal of the ovaries before cancer can form in those tissues and spread
to the rest of the body. To take such radical action means a reduction in
risk from near 90% to less than 10%, as an inherited BRCA1 gene mutation
is only known to cause (or more correctly, not suppress) cancer in breast and ovarian tissues. Mom had been a textbook case.
Now that we know, we are on a tight timetable, as we
have been trying for one more child by birth. Because of my ticking cancer
bomb, we had planned to give up after my 39th
birthday, but adoring parenthood, when that day came and went, we couldn't help trying
just a little longer.
The joyfulness of our recent success was
abruptly ended by an event on the job which resulted in a heartbreaking miscarriage. After the loss
of our cherished, tiny second child, and as both the biological and cancer clocks
tick ominously and simultaneously, our efforts are beginning to feel like
an insane gamble – the last thing I want is a precious pregnancy to coincide with
cancer, chemo, surgery and radiation. But, as Jack keeps asking for a baby brother or sister, a biological
child is a hard dream to give up – even though my years of working with
foster children and adoptive families make it easier for me than for most
to accept and anticipate that our family will grow if, when, and however it is intended.
The surgery itself is not so
frightening a prospect to me
as it used to be. I had always thought that it would be as painful an
ordeal as my mother’s. But it’s been twenty-five years since then, and the
radical mastectomy just has to be easier than it once was, what with advances in medicine and
surgical practice. After months of chemotherapy, my sister had her
bilateral mastectomy on a Friday (a smart choice as her other breast
showed pre-cancerous cells), was sent home Sunday, and was greeting
caretakers like pampered guests with her homemade mushroom soup on
Wednesday. She is tough by nature, but we were nonetheless amazed.
And “oopharectomy with salpingo,” the removal of the ovaries
and fallopian tubes, can
today even be performed laproscopically, a minimally invasive outpatient
procedure.
Being categorized as high risk, I now
routinely schedule a yearly "slammogram" alternating every six
months with an even less pleasant breast MRI, and I see an oncologist regularly. In my first
meeting with her, she asked about my plans for
reconstruction once I go
through with the recommended preventive surgeries. Focusing my
research on survival, I had given reconstruction no thought. I just
assumed that I would go flat, be finally free to run up and down stairs without
being cinched into an uncomfortable harness, and choose a less weighty pair of
prosthetics for show. (Despite my insistent suggestion, helium implants have yet to
be developed.)
After talking with her, I’m nervously excited at the
prospect of what I’m calling my own “extreme makeover.” It seems they can
remove the bothersome spare tire from my former waistline and backfill the
breasts with it. When I asked whether they could be
lifted to their former glory, my oncologist nodded, grinning from ear to ear.
Either way, I feel so fortunate to be the first in my family
to know before it happens, to be able to go to a surgeon and say, "Take
them, before they spawn a cancer that will devour my body and my life."
I
wish that so many magnificent women before me had that option.
The Test
While the chances of getting breast cancer for most
women are one in nine or ten, in cases where women test positive for a
genetic indicator, cancer is more than likely to develop. Less than two
tenths of a percent of women will test positive for
BRCA1 or
BRCA2, but
this small population will comprise ten percent of all breast cancers.
If you have a family history of breast cancer,
even on your paternal side, talk
with your physician and consider being tested. If you or your physician
need more information, consult any of the following:
FORCE – Facing Our Risk for Cancer
Empowered:
www.facingourrisk.org
(Be sure to visit the Main Message Board under FORCE Community)
Myriad Genetic Laboratories, Inc.:
www.myriad.com, 800-469-7423
American Cancer
Society:
www.cancer.org, 800-ACS-2345
While the currently recommended treatment for women
who test positive is certainly radical, those of us who have experienced
the loss of countless mothers, grandmothers, sisters and aunts can best
understand and make that choice. As for me, I am starting to allow myself
to think far into the future. I want to know my grandchildren – and I
think I’ll have them call me “Glama.”
Update:
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The above was first published
in 2003. As my 40th birthday gift to myself in the summer of 2004, with tremendous support from my
husband and family, I
opted to take a preemptive strike at cancer, beginning with a maximally
invasive hysterectomy, taking out every expendable peritoneal cell of
tissue from the ovaries to the cervix that was surgically possible to
remove. Two months
later, I rolled on a gurney down the same endless hospital hallway for a
complete bilateral mastectomy with grueling reconstruction. While
the drive-through surgeries, nightmarish recovery, instant menopause and
residual pain and limitation have been far more difficult than I
could have imagined, I have blasted cancer from my imminent future. I feel
incredibly lucky to be alive
and look forward to having any number of decades left with my husband and
son. |
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The same year, my sister Kerin's aggressive cancer was
found to have terminally metastasized. Sadly, the original spot was
evident on a mammogram she'd had at 40, and although her radiologist
circled it, he'd sent a clean report to her physician, perhaps
dismissing it because of her youth. Kerin had
to endure another two years of radiation, chemotherapy, massive medication,
frightful side effects
and financial devastation. While it was a bleak existence and an
ultimately hopeless fight, she pressed on with passion and purpose. She loathed the pity and
awkwardness engendered by dying. With defiance in
each painful step she took, she faced her cancer treatment and impending death with brazen candor,
steadfast composure, misdirected anger, beauty, intelligence, tenacity, practical
forethought, lavish parties, and despite it all, her notoriously insolent
sense of humor. Her
ceaseless, talented hands were tired, weak, thin, and still perfectly
manicured when she waved me goodbye, softly closing
her unforgettable green eyes in the spring of
2006.
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Kerin Phelan
1959-2006
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To anyone with a family history and the misfortune of
having to consider whether to submit to the genetic test
– and if positive, whether
to take proactive steps, I say, do it! I managed to get
through a period of preventive hell without a single cancer cell, unlike all of these amazing women who came
before me and this gift of science. They suffered through the same
surgical misery and so much worse, only to lose their lives to the
confounded family
curse. Were the test available to them, they might still be here.
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