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Nursing student opts for proactive approach to genetic mutation

Years after learning she had the BRCA2 genetic mutation, nursing student Rachel Stone, MPH, not only decided to have a bilateral prophylactic mastectomy but also began her Funkygenes blog.

“Knowledge is power, and I feel empowered by knowing and being able to do the appropriate preventative care,” said Stone, a student in the two-year, entry-level master’s nursing program at UCLA.

With a family history of ovarian cancer, in 2007, Stone’s gynecologist suggested her mother receive genetic testing. Her mother refused, but Stone chose to have the testing at age 23. She met with a genetic counselor beforehand.

“I tested positive for BRCA2,” Stone said. “I would have been more surprised if I was negative, after reading all of the risk factors.”

Stone followed her gynecologist’s recommendations for increased screening. Although the gynecologist suggested seeing a breast specialist, Stone refused because she associated the gene with ovarian cancer risk not breast cancer. She obtained more frequent clinician breast exams, mammograms and breast MRIs, transvaginal ultrasounds and CA-125 marker screenings. At the same time, Stone decided to become a nurse after helping a friend with a chronic illness navigate the health system. She began the UCLA program in fall 2013.

“I enjoyed the patient advocacy and saw what a difference nurses can make,” Stone said. Her experiences with BRCA have drawn her to oncology and women’s health.

When she found out her great aunt died of breast cancer, and in nursing school learned more about the breast cancer risk with BRCA2, Stone sought additional information. Her physician encouraged her to meet with a breast surgeon and discuss prophylactic mastectomy.

“My husband thought it was a no-brainer, but I said no, it’s a huge surgery,” Stone said. She discussed alternatives with the physician, such as more frequent screening and healthy lifestyle changes, before opting for the surgery.

“Nothing else could bring my risk down as much as the surgery,” Stone said.

She immediately decided on reconstructive surgery as a second procedure, which offered a lower risk of complications. She had the seven-hour bilateral mastectomy at the end of August during the five-week break between summer and fall quarters, and reconstruction in December, on winter break.

School officials encouraged and supported Stone, allowing her to take final exams early and placing her in a later clinical rotation.

“This is an intense program,” said Shelli Shepherd, director of student services at UCLA School of Nursing. But Stone had a good plan on caring for her health while continuing with the nursing curriculum. “We were willing to work with her, because we believe, first and foremost to be a good nurse, you need to care for yourself first,” Shepherd said.

Stone’s husband and nursing school friends assisted her during her lengthy recovery. They helped her shower and tend to her drains.

“I did a lot of preparation before. That helped a lot,” Stone said. For instance, “I was able to practice getting out of bed without my arms.”

Stone expects to graduate in June and plans to seek a bedside nursing position and to continue educating people about BRCA.

“My intention is letting people know the gene does not mean you will get cancer and need surgery,” Stone said. “Testing can be empowering rather than scary.”

[accordion title=”Blogging about health journey comes naturally” load=”hide”]UCLA nursing student Rachel Stone holds a bachelor’s degree in communication, has experience as a writer and editor and found blogging comes naturally. When confronted with the news she had the BRCA2 gene mutation that could predispose her to certain cancers, she decided to blog about it to dispel myths and share good information with other women dealing with the mutation.

“My public health training and interest in health education and advocacy made me want to talk about prevention and BRCA testing,” Stone said. “It was to inform people, and it was therapeutic for me to write everything out.”

She said many people think a positive result means the person will get cancer, and others do not even want to consider the options. Her blog addressed those two myths. She also shared the information she researched for her own case to make the breast removal and reconstruction experience easier for other women. She emphasized placing everything at waist level to avoid raising an arm or arms after surgery and asking the pharmacy for easy-access caps on prescriptions to avoid strain.

Many people want to know how she came up with the name Funkygenes for her blog. She credits her mother and husband.

Whether writing for one person or 10,000 doesn’t matter to Stone. She knows people read her blog, because they write to her, and she receives between 500 and 5,000 tweets per week.[/accordion]

Debra Anscombe Wood, RN, is a freelance writer.

By | 2021-05-28T09:28:14-04:00 May 4th, 2015|Categories: Nursing Education|0 Comments

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