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A Patient’s Life-Changing Moment

Published onDecember 2, 2014 by

Prophylactic Mastectomy

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I opened an email last week that brought tears to my eyes. “Hi Cat,” it read. “Thank you for saving [patient’s] life by insisting she get BRCA (Breast Cancer) testing.” The email was from Dr. Kristi Funk, a breast cancer surgeon that I work with (best known for her work with celebrity patients, such as Angelina Jolie and Sheryl Crow) who had seen one of my patients I had sent her.

My patient is a beautiful, vibrant 27-year-old who I had seen about a year and a half ago in my office wanting breast implants. She was super excited about breast surgery and wanted to get them done “as soon as possible.” As I was reviewing her patient intake forms and medical history (yes, most of us doctors read the enormous stack of papers you are probably annoyed at having to fill out), I saw that her mother had had breast cancer as well as several other women in her family. She wasn’t sure if anyone had the breast cancer gene and she had never been tested.

I proceeded with the consultation for her breast implant surgery – we talked about the surgery, she tried on different sizes, and we went over all her questions – but I told her that before she even considered getting her cosmetic breast augmentation surgery, she had to get a mammogram as well as see a breast cancer doctor and get genetic testing to determine her risk factors for developing breast cancer. I told her that I needed her to be completely informed before having her breast augmentation surgery based on what they found out with the genetic testing or family history.

She was super resistant and told me she was young and healthy and she didn’t want to think about breast cancer, that if it happened she would deal with it later. I told her that it was ultimately her decision to get genetic testing and find out, but that I personally would not operate on her unless she completed her test. After her consultation, I found out that she had called my office manager and had booked her surgery date with my office. I called her and told her I would not operate on her until she saw a specialist and they cleared her for her breast augmentation surgery based on her risk factors. She asked if she could “sign off” on that and say she accepted any risks and really wanted to have surgery. I told her no, and that I had to cancel her surgery date.

Over the next year and a half, myself and my office called, emailed, and pestered her to see if she had gone to a breast cancer doctor. She had many excuses – she had changed insurance companies, she couldn’t get an appointment, and we even helped her make a few appointments which she cancelled. When I hired a new staff member, she tried to schedule her surgery again with her and stated that she didn’t know she had to get clearance from the breast cancer doctor or that she needed genetic testing. When I saw her name on the schedule – I called her again and reviewed with her my concerns and what we had discussed before. Finally, since she really wanted to have breast implants, she told me she would see Dr. Funk and her staff. “I’ll get the tests done!” she told me “Don’t cancel my surgery date! I’m sure I’m fine.”

It turned out that she tested positive for a deleterious mutation in the BRCA2 gene. This test saved her life!

This mutation is known to cause hereditary breast and ovarian cancer with a cumulative lifetime risk of 56-87% of developing breast cancer, and an 11-64% risk of developing ovarian cancer. With early treatments, cure and survival are dramatically increased.

Being a plastic and reconstructive surgeon with a practice centered on women and their well-being, I am especially passionate about early breast cancer detection. I constantly stress to women the importance of getting an annual mammograms and physical exams, as well as performing self-breast exams.

The American Cancer Society Guidelines recommend that women get clinical breast exams starting in their early 20’s (your doctor examines you) and that women perform self breast exams also in their 20’s so they know how their breasts normally look and feel and can monitor for any changes. Yearly mammograms are recommended starting at age 40. Women who have a family history of breast cancer should be screened by MRI in addition to a mammogram and some of these additional tests need to be started at an earlier time. Patients with a family history of the BRCA gene mutation or if your doctor recommends BRCA testing, then your insurance provider may be able to cover these costs. In fact, the Affordable Care Act requires insurance plans that began on or after August 1, 2012 to cover genetic testing costs and also coverage of counseling.

My 27-year-old patient will now be getting prophylactic mastectomy with reconstruction instead of cosmetic breast augmentation. Although it’s not the surgery she initially wanted, it is one that will ultimately help prolong her life. Perhaps if I hadn’t forced her or if she had gone elsewhere she may never have known. Sometimes as physicians, (yes, even plastic surgeons are real doctors too!) we have to help guide patients against what they want in order to do what’s best for them.

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