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Jeanna's Story Anonymous BRCA mutation carrier and previvor

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Remaining level headed about follow-up appointments. Taking it all in stride when her doctors find something questionable. This is Jeanna's approach to managing her hereditary risk of breast and ovarian cancers. But the past year has been unusually time-consuming with doctor's visits and tests. Many times they've found something suspicious. Fortunately, further diagnostic exams have all returned negative. Still, the inordinate amount of appointments has left Jeanna increasingly frustrated. It's perhaps the one aspect of her journey she was least prepared for when it began nearly 14 years ago.

The first time Jeanna's maternal grandmother had cancer was at age 38. It was breast cancer. "She's had other cancers too after having her breast removed and following traditional cancer treatments, she's survived them all. My grandmother is 93 now, she's amazing," Jeanna's eyes brighten with adoration. "Grandma did a lot of Reiki. She really credits that and an adequate attitude with what got her through it. She's pretty hip." At her mom's encouragement, Jeanna's grandma had genetic testing and was positive for a BRCA mutation. After learning this, Jeanna's mom, who was post-menopausal and had never had cancer, decided to have genetic testing too. She also tested BRCA positive and subsequently had bilateral prophylactic oophorectomy.

About a year out of college, sometime around 2000, Jeanna's mom suggested she and her brother have BRCA genetic testing. "I really didn't think too much about it. My mom sort of pushed it, saying, 'You should do this, it's free, it's part of a study.' I did it without a whole lot of thought. My brother and I had our testing, we are both positive. I remember calling my parents right after I got my results and said I was positive, 'It's a bummer.' But that's probably from being 21. I was disappointed, but by no means devastated. I don't think I even cried," Jeanna glances upwards in recollection. "That's not to say that I haven't cried about things related to BRCA in the years since, but the moment of finding out wasn't particularly emotional. Because of my grandmother's medical history, I had the assumption I was at a high risk for cancer. The BRCA gene was a confirmation of that. It probably helped that I was young," she concedes brushing some strand of hair away from her face, "the reality of removing my ovaries and breasts was still a long ways off."

At this juncture, Jeanna, living in Manhattan and engaged, was advised to only screen for breast cancer. Spaced throughout the year, Jeanna had a doctor's appointment every four months for a mammogram, breast MRI, or breast ultrasound. When she and her husband moved to Philadelphia, her breast-screening plan was slightly modified. "Now I only have the breast ultrasound if something is wrong. In the last two years, almost every screening required a follow up due to some abnormality and an abundance of caution on the doctor's part, so I really ended up having about three to four mammograms and breast ultrasounds a year and an MRI. Oh and," she adds waving her hand, "maybe a biopsy and an aspiration, too."

Now in her mid-30's, Jeanna has begun ovarian cancer screening with two blood tests, two vaginal ultrasounds each scheduled six months apart, along with an annual visit to the gynecologist. "I do spend a lot of time going to the doctor," she mutters. "I am trying to be sensible about when I take preventative measures. I've tried not to be emotional and just take my doctor's advice. I plan to have my ovaries removed when I'm 38. My husband has been concerned about how the oophorectomy will affect me, hormone levels, sex drive, etc. He supports me but he also has these worries. My gynecologist says for sure I'll get hormone therapy afterwards, for quality of life issues."

Jeanna and her husband have two children under age eight. "I think they're too young to share this kind of information with. I've never even considered telling them until they're in high school because I don't know what the world is going to be like then. We could be looking at really different choices. When I get surgeries in the next few years, I expect I'll limit the explanation to what they need to know." Indeed, in sharing her experience with the Stories from the Heart Project, Jeanna decided to be anonymous in part to shield her children. "I wanted to share my experience, but not my name, because I am concerned that my kids will find out about my BRCA gene and their risk for it before I'm ready for them to know. Also, I share information about my grandmother, my mother, and my brother that I don't know if they want out in the world - remaining anonymous also keeps them anonymous.

"In the meantime, Jeanna carries on juggling the medical appointments on her calendar without revealing too much to her kids. "The constant screening lately really gets me down. All these appointments are taking up too much time in my life." She wipes her eyebrows, noticeably stressed. "I guess the doctor treats me with kid gloves, so any little thing that would normally not be worrisome is cause for big alarm. Just the last two months," she explains, "I've had at least one doctor's appointment a week. 'We see this, go get that. Oh, well wait,'" she waggles her pointer finger, "'we want to biopsy that,' and it ends up always being nothing, but it takes up so much time and energy. The radiologist will come in and tell me all the things that seem possibly bad to her. Then I go back to my car and I cry. It really is draining." She raises her eyebrows.

Despite the doctors' precautionary approach, Jeanna believes having good doctors that you like and trust is the key to making the screenings more manageable and bearable. "I want to be under the care of a doctor who takes the time to answer my questions, looks me in the face, calls me promptly with my test results - generally treats me well. That makes all the difference for me," she acknowledges. When she moved to Philadelphia from New York City she left behind a breast surgeon she really liked. Once here, she started with a new one who took good care of her writing scripts for screening, but Jeanna wanted more.

"This woman in town recommended Dr. Domchek to me and she's been great," she smiles, pleased. A medical oncologist, Dr. Domchek is "interested in the genes, the risk, and balancing the choices. She brings a more comprehensive approach. This is such a complicated issue, managing hereditary risk, there's no 'This is the thing to do,' so it really is important to have someone willing to educate you and give you choices. It's a big difference," she says nodding her head.

Jeanna values the choices presented by her physicians and evaluates each option with prudence. "My mother still has her breasts and has not gotten cancer. This helps me want to continue screening rather than have prophylactic surgery." Her first surgical step will be prophylactic bilateral oophorectomy. "I'm lucky that I married young," she says, "and was done having children by age 32. I hadn't had to rush my family planning due to having to get my ovaries removed. It would really complicate things if this weren't the case."

Jeanna pauses for a moment as she props up a sofa pillow. "You know it's one of these things, no one wants to get sick, and the good thing about genetic testing is that insurance will then pay for screening and you can come up with a maintenance plan. Right now, I feel it's not so great that I know," she frowns referring to her BRCA mutation, "because I just do a ton of screening, but probably one day the screening will pop-up with cancer. So in the long run it's a really good thing I know. But moment to moment, and this year in particular, it's a pain."

Above all, Jeanna is doing her best not get to worked up about her risks and let it ruin her days in between her myriad of medical appointments. "I just put the whole idea of BRCA away unless I'm at an appointment for it. I do feel a looming threat at all times," she shrugs, "but I do my best not to think about it. I would never throw in the towel and stop with the screening."