With two family members diagnosed with breast cancer and several more with the high-risk BRCA gene, this family is sharing its story to educate others.

Story by: Lynne Choate; Reviewed by Laila S. Agrawal, M.D., medical oncologist, Norton Cancer Institute on April 16, 2024

Sara Scott received upsetting news. Her niece had been diagnosed with breast cancer. At 40 years old and after her first mammogram, Virginia Doll, a fashion designer in New York City, had indications of breast cancer.

“I was devastated by the news and thought this can’t be happening,” Sara said. “To be 40 years old and told you have breast cancer.”

While early testing indicated Stage 0 pre-cancerous cells for Virginia, her family was rallying support  from Kentucky to New York and several points in between. They were sending love, support and prayers to Virginia every step of the way.

One of those steps was the recommendation by Virginia’s doctor for her to have BRCA gene mutation testing. This is a blood or saliva test that looks for DNA changes that increase the risk of breast and ovarian cancers.  Virginia’s test was positive for the BRCA gene mutation. When she shared the news with her family — mom, aunts and cousins — she encouraged them to get tested for the BRCA gene mutation too.

Sara also tested positive for BRCA-1 so she decided to move her routine mammogram up two months.   Following this imaging, Sara was diagnosed with Stage 2 triple-negative invasive ductal carcinoma. It was  an aggressive form of cancer. Tiffany S. Berry, M.D., breast surgeon with Norton Surgical Specialists – Breast Health, encouraged Sara to start chemotherapy  immediately to shrink the tumor as much as possible and A the mastectomy could wait.

“Starting treatment quickly, especially for more aggressive forms of breast cancer, is vital for having the best possible outcomes,” said Laila S. Agrawal, M.D., medical oncologist with Norton Cancer Institute. “Sometimes that means starting with chemotherapy first, before surgery.”

Paths running parallel

Virginia and Sara were both undergoing their treatments while their cousin, Katie Kannapell Ryser, was making a hard choice of her own. Katie, 42 years old, tested positive for the BRCA gene mutation as well. She was faced with the decision of having multiple surgery to remove the risk or taking a wait-and-see approach. Katie chose to have a hysterectomy and oophorectomy (removal of both ovaries),bilateral mastectomy and breast reconstruction.

Having lived in New York for several years, Katie looked at all her options for surgery, including major cancer centers nationwide. In the end, Katie chose Norton Healthcare, feeling that after her research and consultations with medical teams, in her words, “Norton was where I felt most comfortable.  As soon as I met Dr. Matt Brown, I knew. ”

“The surgical nurses I met during my surgery were  wonderful,” Katie said. “They were the most intelligent and compassionate nurses I have met. Everyone I encountered was top-notch.”

A week following her double mastectomy  C. Matt Brown, M.D., with Norton Surgical Specialists – Louisville General Surgery. Tissue samples reviewed by pathology afterward revealed that there were precancerous cells in Katie’s breast tissue. She learned from her surgeon that she ”dodged a bullet” by having the surgery before the cancer had a chance to grow.

One year later

Within the span of 12 months, Sara started chemotherapy, underwent a double mastectomy, continued chemotherapy, had breast reconstruction surgery and had her access port for treatments removed.

“The entire year was a roller coaster, and I couldn’t have done it without the love and support of my husband, Bruce,” Sara said. “He was my rock! And my son Alex is a gifted home chef and prepared many healthy and delicious meals for our family.”

She is also very thankful to her medical team and the caregivers she encountered along the way. She kept notes and remembers most of their names.

Katie, who was several months into her recovery when her cousin Sara underwent her double mastectomy, supported Sara in a unique way.

“I passed along my pillows, robe that holds drains, and other things that helped me through my surgery and recovery to Sara, who in return passed them on to her sister, Katherine ‘Kak’ Doll Crawford, who also chose to have a radical mastectomy after testing positive for the BRCA gene mutation,” Katie said. “Our bond is much deeper than first cousins — we are like a sisters now.”

Branches of the family tree

Sara went through Norton Healthcare’s genetic counseling services for the blood test for the BRCA gene mutation.

Sara’s other sister, Rebecca Graves, a gifted artist in New York City, also tested positive for the BRCA gene mutation.

When Elizabeth S. Doll, M.D., tested positive for the BRCA gene mutation, that meant that two of Katherine’s daughters carried the genetic high risk of breast cancer (the other being Virginia, the New Yorker diagnosed with Stage 0 breast cancer at age 40.)

“And when we shared the news with more family members, they sought testing and more came back positive,” Sara said.

Their uncle on their mother’s side, N. Allen Kannapell, along with two of his children, Katie (who chose to have a radical mastectomy and hysterectomy) and her brother, Clay Kannapell, as well as an at least one adult grandchild all have tested positive for the BRCA gene mutation.

“In total, nine of us have tested positive for the gene mutation. Luckily, no one else except Virginia and I have developed cancer,” Sara said. “Virginia truly saved my life. I am religious about getting my mammograms, but it wasn’t time for my yearly mammogram yet. Because of the gene mutation test coming back positive I was able to go early; it was detected and I was in treatment very quickly.”

According to Dr. Agrawal, genetic testing provides information that can help a person weigh their options when it comes to their health.

“Individuals who learn they carry a genetic mutation, but have not been diagnosed with cancer themselves can then make personalized choices regarding screening and steps to reduce the risk of cancer, which may include surgeries to remove breasts or ovaries, called prophylactic surgery.”

Bringing awareness through celebration

Sara and eight other members of her extended family will be recognized as part of the 18^th annual Derby Divas event, an evening of fashion and fun with a mission to help fund mammograms for underserved women in the community through the Norton Healthcare Foundation. Over the past 17 years, the Derby Divas event has raised more than $2.05 million for Norton Cancer Institute in support of breast health initiatives. This includes funding for the Norton Prevention & Wellness Mobile Prevention Center, and providing mammograms and health screenings for underserved areas of the community.

Derby Divas is supported by Myriad Genetics with additional support by Churchill Downs, Brown-Forman, the Diaz Family Foundation and Northern Trust.  Derby Divas will be held Thursday, April 18, 6:30 to 9 p.m., at Rodes For Him and For Her, 4938 Brownsboro Road.

Derby Divas features Derby fashion, food and refreshments. Tickets are $70 in advance, $80 at the door or $40 for young professionals (ages 30 and under). The first 50 people to pay a special $140 admission fee will receive an exclusive gift bag full of beauty products and other goodies. Proceeds benefit breast health at Norton Cancer Institute through the Norton Healthcare Foundation.