1. The mutant CANCER gene that
saved
the Delgado family
KATHRYN JOHNSON
Mklmm13@gmail.com
951-712-0847
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2. Mary (Delgado) Wenlock, 33 years old and mother of 2 small children, was
very happy spending her weekend in Washington DC with her in-laws while
getting ready for a family wedding. She left her medical worries back in California
hoping things would return to normal. Then her world came crashing down with
one simple phone call.
Sitting in a car with her children, her sister-in-law and her in-laws, she
received the call that all women dread. Her doctor told her that the painful lump
she had found was indeed breast cancer and not a cyst, as everyone had
assumed.
She showed no emotions, no faltering in her voice so as not to worry her
children or her in-laws. She was terrified and just wanted to go home and cry, but
she had a wedding to attend, and she refused to ruin everyone’s good time.
She told her husband, Mark Wenlock, his sister Joanne, and her sisters and
mother back home in California, of the news. With one phone call, she realized
her nightmare had begun; her life and body altered forever.
“I was sitting in a car full of women, and I was listening to my doctor tell me
that I had breast cancer,” said Mary. “I tried not to show any emotion, but I was
terrified, devastated, and just wanted to go home and cry.”
The Delgado family history is riddled with breast cancer. Mavis Delgado,
Mary’s mother, lost her mother, grandmother and four aunts to breast cancer.
When Mary called her family to tell them she had breast cancer, the wheels of
family cohesiveness kicked into high gear. Her sisters and mother put together a
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3. notebook of prominent doctors, research hospitals, surgery options and their
family tree. Dealing with their grandmothers’ and their great aunts’ breast cancer
throughout their childhood, the Delgado women knew how important quick and
knowledgeable decisions were in surviving this horrible disease.
Mary, diagnose with DCIS at the age of 33, was heart wrenching. She felt a
lump in her breast and discussed it with her doctor. He kept reassuring her that it
was just a cyst and that she should take vitamin E and stay away from caffeine.
She went home assuming that life would be fine and that she didn’t have to worry
about cancer. She continued to have pain in her breast, so she went back to her
doctor and he tried to aspirate it, but it was too hard. At this time, the doctor still
insisted that it wasn’t cancer but he sent her to another specialist at the Women’s
Center, who performed a core biopsy. This technician still said that it did not look
like cancer so Mary decided to keep her plans and go to the wedding in
Washington. That’s when she received the call that changed her family’s life.
Mary is part of the 5-10% of women diagnosed with breast cancer, resulting
from a mutation, the identified BRCA 2 gene. This type of cancer stems from an
abnormal error gene, or typo, which is passed down from either parent,
according to a study published in the New England Journal of Medicine in 2002.
The cancers from these genes are more aggressive and found in younger
women, compared to the cancers found in the general public. This study also
found that the risk of getting breast cancer associated with the BRCA 2 gene is
60 – 85% during a patient’s lifetime, which is much higher than the general
public’s chances of getting breast cancer.
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4. “The American Cancer Society estimates that 5-10% of breast cancer cases
result from inherited mutations or alterations in the breast cancer susceptibility
genes, BRCA 1 and BRCA 2,” said Christine McCarthy, MSN, APRN-BC, BHS
from the Emory University Winship Cancer Institute in Atlanta, Georgia. “Breast
cancer is the most common cancer in women, except for nonmelanoma skin
cancers, and is the second leading cause of death, behind lung cancer.”
“I just experienced the death of a close friend of mine, who lost her three
year battle with breast cancer,” said Mary. “So we all assumed the worst.”
Mary went through a round of chemotherapy before surgery to shrink her
tumor. The tumor became more painful and didn’t seem to be shrinking. Her
surgeon, Dr. Hanson from St. Johns Hospital in Santa Monica, tested the extent
of her tumor, and luckily it had not moved into her lymph nodes. The surgery
happened quickly and because of the size of her tumor, 5 centimeters, her only
option was a mastectomy and she then opted for the Tram flap reconstruction of
her breast. This type of breast reconstruction surgery is not the most
aesthetically pleasing form, but it was her only choice. After surgery, Mary went
through eight months of chemotherapy, and radiation for five days a week for 25
days.
“My family went with me to every appointment and every surgery; they were
very supportive,” said Mary. “My sister-in-law Joanne set up a food schedule, so
that friends, neighbors and family could bring food over every night by 6 pm; and
that way my family could have a normal meal. I realized that people are good.”
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5. Susan (Delgado) Granger, Mary’s older sister, took charge and put together a
very detailed and extensive family tree, which would show the doctors their
family’s history of cancer. This background was the reason the doctors finally
decided to test Mary for the BRCA 1 & BRCA 2 gene. She consulted with genetic
counselors, and through a simple blood test, Mary learned that she is positive for
the BRCA 2 gene. This test proved that her experiences with cancer were not
normal and that everyone in her family had to be tested. Mavis and her oldest
daughter, Susan, were negative; but Mary, her sister Lita (Delgado) Miller, and
the youngest sister, Patricia Delgado, all came back positive for the BRCA 2
gene. Everyone was shocked and terrified.
“As a mother, I was very upset when Mary, Lita and Trish all came back
positive for the gene,” said Mavis Delgado. “I was confident that I had the gene,
because of all the family members that had died from the disease. I was stunned
when my test came back negative and I did not have the gene. Our thoughts
were where do we go from here?”
The next step for these women was to have several consultations regarding
the best way to reduce the risk associated with gene mutation. After finding out
that she had the gene, Lita Miller, had a mammogram and discovered what
looked like calcium deposits, but decided anyway to have a needle biopsy. This
procedure showed that she actually had cancer, DCIS, like her younger sister,
Mary. Lita opted for a bilateral mastectomy. Because of the far reaching effects
of the gene diagnosis, she also had a total hysterectomy to prevent cancer from
attacking her ovaries. Following her sister Mary, Lita used her knowledge of the
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6. gene to save her life and not wait for cancer to decide her fate. Women, and
sometimes men, that are diagnosed with this gene mutation must realize the
associated high risk in breast and ovarian cancers, and consult genetic
counselors on the best path to take for their particular situation.
“Had she not known about the gene, she would not have taken such a drastic
step,” said Mavis Delgado. “I believe she was saved by the BRCA 2 test.”
According to the Susan G. Komen Breast Cancer Foundation website,
www.komen.org, and the American Cancer Society, approximately 212,920
breast cancer cases will be diagnosed this year and 40,970 women will die from
this disease. This year there are over 2 million breast cancer survivors, and
deaths from the disease seem to be declining. These results reflect earlier and
better detection methods and better technological advances to fight cancer. The
above numbers give hope to those struggling with the reality of the BRCA 1 and
BRCA 2 gene diagnosis. Knowledge is power in the fight against cancer, and
knowing that one’s family is predisposed for this gene, gives the women and
sometimes the men, a fighting chance to survive.
With the awareness of the BRCA 2 gene being in the Delgado family, most
members of the extended family also decided to get tested. Breast cancer was
already prevalent in the family, because of two women who had been diagnosed
with breast cancer years earlier. Lourdes (Delgado) Rymer, Mary’s aunt on her
father’s side, was diagnosed with cancer in 1991 and had a radical mastectomy
on one breast, but spared the other side, which she now regrets. She was tested
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7. with the rest of her sisters, daughters and nieces. Lourdes tested negative for the
gene.
She has remained cancer free for 15 years with the help of a very popular and
proven successful drug called tamoxifen. This is the drug of choice for many
cancers, which is used in conjunction with other modalities in treatment of breast
cancer. Tamoxifen is used to block the hormone estrogen from cancer cells that
are estrogen receptor - positive that helps prevent growth, according to the
Susan G Komen website.
“BRCA 2 gene cancers can be some of the more difficult cancers as they are
often considered more aggressive,” said McCarthy. “Tamoxifen in conjunction
with chemotherapy and radiation is the biggest bang for your buck as far as
treatment goes.”
Her sister, Mary (Delgado) Eggert was diagnosed with breast cancer in 1995
and only had a lumpectomy, because the gene had not yet been discovered.
After years of remission from cancer, it returned with a vengeance. During this
time the family received the news of the cancer gene, BRCA 2. Mary Eggert and
her four daughters were tested. Mary and two of her daughters came back
positive for the BRCA 2 gene. Had she known about the gene at the time of her
original diagnosis, her daughters report that she would have chosen a different
path.
Mary Eggert lost her battle with cancer in 2004, which had spread to her lungs
and her other breast. As they stood around their mothers’ hospital bed during
those last minutes of life, her family realized that cancer had taken their mother
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8. but not their will to survive. Living with cancer is a horrifying thought, but in this
family, survival is nothing without family togetherness and sometimes humor.
Even though some might think laughter is inappropriate, remembering the good
times with laughter gets the Eggert and Delgado families through some difficult
phases in life.
“Laughter is the most appropriate response through death. It gets you through
everything,” said Paula (Eggert) Faust, who tested negative to the cancer gene.
One of the most important lessons that have been learned from this family
cancer gene experience is the significance of proper and diligent preventative
measures. For those families dealing with this gene, the most important
prevention is complete and up to date information. Knowledge about all the
options available to them, and finding very reputable, understanding,
compassionate and trusted doctors is the way this family chooses to fight this
disease, and the family’s history of the gene mutation. The doctor must explain
all of the methods of prevention, detection, surgeries and survival treatments.
“When diagnosed with breast cancer, women should be in contact with a team
of breast oncology specialists, including a surgical oncologist, medical oncologist,
radiation oncologist and gynecologic oncologist,” said McCarthy. “The genetic
counselor can help with the emotional feelings of prophylactic removal of female
organs and with the prevention of recurrence.”
A healthy lifestyle is suggested for all those women dealing with cancer,
whether from the gene or just breast cancer in general. This lifestyle should
consist of a reasonable diet, which includes about 15% fat content, a healthy
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9. weight, exercising five days a week, drinking plenty of water, resting when
needed, and finding an inner or spiritual peace, which will help with anxiety.
Keeping healthy also includes vitamin supplements, which help with bone health;
especially for those undergoing treatment for breast cancer. These supplements
should include 1200-1500 milligrams of calcium with 400-800 milligrams of
Vitamin D.
McCarthy also suggests seeing a breast specialty team for the most complete
care. Women should be in routine contact with their gynecologist to help them
detect abnormalities as soon as possible. If a woman has the gene, then she
should have clinical breast exams and mammograms every six months after the
age of 25; and if there is a strong family history but no gene detection, then start
mammograms 5-10 years earlier than the earliest age at first diagnosis of the
family member’s cancer diagnosis.
According to the Komen website, average women should have a
mammogram at age 40, if no family history; a clinical breast exam by a doctor or
nurse at least every three years starting at age 20 and then every year after the
age of 40; and a breast self exam every month starting by age 20. Diligent
prevention methods help women feel like they are doing something to help take
control of their bodies.
“You have to take life one day at a time and realize that one year of your life
will suck when you are originally diagnosed with breast cancer,” said Wenlock.
“This one year will save you for the rest of your life. If you don’t deal with it now,
you could lose your life.”
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10. In September 2006, it will be the five year anniversary of Mary’s detection,
removal and survival of breast cancer and the finding of the BRCA 2 gene
mutation. Her first two years after surgery were a huge adjustment to the reality
of cancer survival, but each year has brought her closer to her family, her friends
and other women dealing with this destructive gene. She tells her story so that
others may survive this sentence, not a death sentence but a chance to have a
life sentence.
“At the time we got the results of the BRCA 2 gene testing it was devastating,”
said Mavis. “But as I look back it was a blessing because it gave Mary, Lita and
Trish a second chance.”
The BRCA 2 cancer mutant gene saved the Delgado family. They offer their
experiences in loving memory of Mary (Delgado) Eggert, who passed away in
2004.
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