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Diana
was pregnant, and after five months, she still couldn't
really believe it. At age 40, she and her husband had
been trying for a long time and had just about given
up hope. Now here she was, thinking more and more about
her family, and her place in its cycle. In addition,
she was also having a hard time choosing baby's names
and thought it would be useful and fun to get to know
the names of her distant family members. She decided
that it was time to finally put together that family
tree she'd been putting off for years.
She
knew all the details about her immediate family, but
as she started putting the tree together, she realized
how little she knew beyond that. Her father wasn't reliable
at remembering that kind of stuff, and her mother, Julia,
had died 20 years before from breast cancer. Diana decided
to call her favorite aunt to see if she could fill in
the missing pieces. At 74, her mother's sister Gretta
was one of her favorite people in the world. When Diana
called, Gretta was delighted to hear from her and they
arranged for a visit to go climbing through the family
tree. When Diana got back from the visit, the family
tree was filling in -- but something was starting to
bother her. Many of her relatives had died of cancer.
She was getting a little scared that there might be
something in the family to watch out for.
Besides
Diana's mother Julia, Gretta had two siblings, Johnny
and Helen. Helen had died at 71 from a heart attack,
but Johnny was still as feisty as ever. According to
Gretta, her father, John, had 6 brothers and sisters.
While she couldn't be sure, Gretta thought that two
of the girls, Jane and Rose, had died of breast cancer.
The youngest boy, Charlie had died very recently of
heart disease but had also been diagnosed with prostate
cancer five years ago. After Gretta talked about Jane
and Rose's breast cancer, she lowered her voice and
revealed that her sister Helen had actually had breast
cancer at 40, and had had a mastectomy. "I'm so sorry
I didn't talk about it more with your mother when she
was sick" said Gretta regretfully, "but we just didn't
talk about those kinds of things back then when I was
younger." Gretta also explained that since Helen had
been diagnosed with breast cancer and had done so well,
everyone assumed that Julia would be fine too. She said,
"we were all in shock when Julia got so ill and died."
Later,
after filling in as much as she could on her father's
side of the family, Diana phoned her uncle Johnny try
make sure she wasn't missing any other information that
her mother's only brother might know. As Diana shared
what she had learned about the family tree and talked
about the number of women with breast cancer, Uncle
Johnny said he could understand Julia's concerns. As
their conversation progressed, Johnny told Diana that
his daughter, Annabella, had gone though breast cancer
treatments 11 years ago. Though all of her tests had
been clear since her diagnosis, Johnny said it continued
to concern him. Diana asked if it would be OK to give
Annabella a call and talk to her about it.
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Diana and Annabella spent a Saturday morning talking
on the phone for several hours. As they talked, Diana
learned that as a physician, Annabella, had done a great
deal of research on breast cancer and the chance that
her breast cancer and her two aunts' breast cancer could
in part be inherited. She told Diana that she had been
considering having tests for two genes - called BRCA1
and BRCA2 - that can increase the likelihood of getting
breast and ovarian cancer and possibly other cancers
as well. Diana found herself feeling a bit overwhelmed
by all this new information but she felt she needed
to see this through.
More
on the Genetics of Breast and Ovarian Cancer 
About
seven months later, when Diana daughter, Heather, was
just three months old, Diana got a message from Annabella
to call her. Annabella's message congratulated her on
her newborn daughter, wished them both well, and she
said she had some information she wanted to discuss
with her when she had some time. It took Diana several
weeks to return the call to Annabella, which made her
realize she was a bit apprehensive about finding out
what Annabella had to say. She finally summoned up the
courage one afternoon.
Annabella
told Diana that she had taken the family history information
that Diana had collected to a genetic counselor. After
several lengthy meetings, Annabella said she had decided
to pursue testing for mutations in BRCA1 and BRCA2.
Much to her surprise, the results came back positive.
She learned that she carried a mutation in the BRCA1
gene, and that this mutation was most likely responsible
for the pattern of breast cancer in her family.
More
on What is Genetic Counseling?
Annabella
explained that the genetic counselor would meet with
anyone else in the family who wanted information about
his or her own risks for cancer. Diana decided that
she would schedule an appointment for herself. Annabella
also told Diana that the genetic counselor had discussed
cancer screening that would be recommended for someone
who carried a BRCA1 mutation or who are from a high-risk
family. The genetic counselor also discussed various
research studies that might be of interest to Annabella
and some of her relatives. They had discussed who else
in the family was at risk and decided that between Annabella
and Diana, they would try and let the relevant family
members know the information they had discovered.
More on Participating in Clinical Trials
Diana
was unsure whether testing for the BRCA1 mutation was
the right thing for her. However, she felt she wanted
to at least get the necessary information to help with
the decision. She also wanted to get accurate information
about what she should be doing to vigilantly protect
her health for her own sake and for Heather's. She was
glad that she had started the family history project.
Like Annabella, she hoped that the information they
had gathered together might help protect their family
members' health as much as possible.
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