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.

Diana's Family History

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"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.

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.

About seven months later, when Diana's 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.

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.

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.