by Mona Jhaveri - February 9, 2021

lucy and dad

Lucy and her dad circa 1993, 12 years before his diagnosis of pancreatic cancer

After her sister’s breast cancer diagnosis, Lucy and her other siblings found that they had all inherited the BRCA2 gene mutation from their father. He had died about a dozen years earlier of pancreatic cancer at the age of 61. His experience with cancer informed her decision to undergo a preventive hysterectomy and double mastectomy – right before the COVID-19 Pandemic transformed the way medical care could be managed.

Lucy is the oldest of a close-knit set of four children, three sisters and a brother. Members of her mother’s side of the family had always lived long and healthy lives. Lucy and her siblings hoped that they would enjoy the same prospects. They knew little about their father’s family medical history, beyond the fact that their grandfather had died at 29 of non-Hodgkin’s lymphoma, and their grandmother at 56 of non-cancer related health issues. Beyond what she knew of her aunts, uncles, and cousins, Lucy had no information about her father’s side of the family.

That left the option of genetic testing. She and her father had discussed testing years earlier because they, and later the rest of her siblings, shared a common gastrointestinal health issue that suggested they might have Lynch syndrome, which raises a person’s risk of colon and other types of cancers. Since Lucy and her siblings were already having annual colonoscopies, and a positive genetic test for Lynch would not have changed her medical treatment, she decided not to have the test. “Knowing I was positive would just mean I would know I was positive, and I didn’t want to walk around thinking I was a time bomb,” she says.

The question of genetic testing was revived with urgency when Lucy’s younger sister, Mallory, was diagnosed with breast cancer in 2019. Mallory, 42 at the time, had discovered her cancer only a few months after receiving a clean mammogram, and she began treatment right away. Her doctors at Penn Medicine recommended that she have a genetic test, given her father’s history, and it came back positive for the BRCA2 gene mutation.

The news of Mallory’s cancer diagnosis and BRCA test set a path in motion for Lucy’s whole family. Mallory’s genetic counselor encouraged them all to get tested. Her mother tested negative, which confirmed that the mutation had come from her father. One by one, each sibling got their results back – each of them positive for the mutation.

 

 A Crazy, Desperate Race

Lucy’s family shared the news with her father’s siblings. “It felt like a crazy desperate race to stop the spread – so many people we loved might be impacted,” she says. As it turns out, her father was the only one of four siblings with the BRCA mutation. His sisters and brother were not affected.

Lucy and her family, along with Mallory’s friends and her partner, John, rallied to help Mallory with her treatment. “I can’t even begin to know what she went through over the past year. She’s a single mom with three young daughters, she lives hours away from each of her family members, her cancer was triple-negative. We came to help her shave her head, we came to help move furniture around in her still-new house, my mom was there all the time, staying on and off for weeks and months to help with the girls and see her through treatment. Mallory has wonderful friends who helped her immeasurably and she has a remarkable survivor story.”

Her brother had fewer options for preventive care in the wake of the news. For Lucy and her sisters, the next months would be full of change.

None of them hesitated when asked if they would choose surgery or monitoring. Mallory had no real choice at all – her cancer dictated her treatment. Merrill, who is the youngest, and Lucy both chose the surgical option right away – a hysterectomy, a double mastectomy and reconstruction. Lucy says that cancer had commanded her attention since her father’s death and informed her choices now. “It guided my decisions on getting my kids vaccinated for HPV, and sat at the back of my mind all the time. Something recommended to help prevent cancer? I’m in!”

This included being very honest with her children about the fact that she had smoked cigarettes when she was younger. “I wanted them to know how much I worried about that and regretted it. I wanted them to protect themselves and feel that their decisions would help keep them safer. I want them to be responsible for their health as best they can,” she says.

Each of the sisters moved forward in her own way. Mallory had a team at Penn Medicine who oversaw her care, which included chemotherapy and radiation on top of what Merrill and Lucy would tackle. Merrill, who is 10 years younger than Lucy, started with breast surgery and planned to wait on the hysterectomy, since she had just had her second child the previous May. As the oldest, nearing menopause and with three kids aged 19,16 and 12, Lucy had her own order of business. She started with the hysterectomy, and opted to have everything removed – uterus, fallopian tubes, ovaries, and cervix. She scheduled it for the day before New Year’s Eve, 2019, anxious to get things started. 

Despite her resolve, and the support of her family, Lucy says it was a lonely time. “I was making huge decisions with the help of my husband and the support of my kids, but it was really lonely. I walked away from my husband, Matt, and down the hallway to surgery with my team, climbing onto the table myself for the first time.”

The eight-hour procedure had been made more difficult by kidney surgery she had as a baby. Her surgeon said she had spent most of that time unknitting Lucy’s organs from surrounding scar tissue. Nonetheless, eager to go home, she walked up and down the hallway without help that night. The nurses on duty didn’t seem to be concerned, except for the one who showed tremendous kindness by giving Lucy her favorite crocheted blanket from among those that had been donated to the hospital.

All through the process, Lucy and her sisters were always comparing notes, trying to be present and supportive of each other while managing their own fear, pain and planning. They were going through it together, which was both comforting and terrible. 

lucy and family

Lucy’s family: Sister Merrill (left),  brother Alex, her mom (also Lucy) who was facing the positive BRCA2 results of all four of her children, her sister Mallory and Lucy. Photo taken at the start of Mallory’s chemotherapy treatment last fall.

A La Carte Care

As a cancer patient, Mallory’s care was organized, scheduled and overseen by a team. For Lucy, it was surgery a la carte, a piecemeal treatment process that included a lot of wonderful healthcare professionals, but with no one in charge of her overall plan. That was left to Lucy, and while she was comfortable with her decision to have the prophylactic surgeries, she was uncomfortable being the general contractor for her own treatment.

While still recovering from the hysterectomy, Lucy had to decide on a breast surgeon, and on whether she would get implants, elect for DIEP flap surgery, or have no reconstruction at all. “I was following my nose, taking cues from family members who are doctors, and relying a lot on Matt to research my options, read reviews on specific surgeons, and reassure me that I was doing okay and making good choices,” she says. 

Lucy chose a surgical team for her double mastectomy and reconstruction. “I really considered not doing the reconstruction at all, but decided I’d be facing enough radical physical change,” she says. After meeting with the breast surgeon and plastic surgery team, she felt most comfortable with the DIEP flap surgery. “I was a little disappointed that I had enough ‘material’ available to use for reconstruction, but, on the other side of the surgery now, I look very similar in clothes to my old self,” Lucy says. But, she adds, “What’s under my clothes is still evolving.”

Lucy had her surgery in mid-February last year. Matt waited for the whole 11 hours and Lucy could hear his voice in the recovery room before she could open her eyes. “I won’t forget the searing pain I had at the top of my ribcage, between my breasts, that seemed to be cutting through all of the numbing agents and anesthesia – it was like a red-hot knife’s edge burning into my body. I can remember hearing voices of the people who were trying to help me, somehow I was making it clear that I was in agony even though I was unable to speak,” she says.

 

Recovering During a Pandemic

Although the scar from the source of that pain is small, Lucy’s other surgery scars are significant. Her abdomen was cut beyond hip to hip to provide the material for the reconstruction. The mastectomy resulted in a lot of skin damage that she is still dealing with. The breast surgeon had been “thorough,” she was told, and there was a lot of bruising and discoloration that has lasted for months. She was told it will fade after a year. 

Lucy found that one of the most surprising things about her recovery was the difficult chore of dealing with drains. The DIEP flap procedure left her with four. “They feel precarious and barely stitched into the skin, so the worry is that they might tear out with any tug from clothing or movement,” she says. Drain maintenance became like a full-time job, which her mother helped her with. “We joked that she was getting her nursing degree as she had seen Mallory through months of chemotherapy and then her mastectomy and reconstruction phase-one the month before,” Lucy says. “She was dealing with all three of her daughters at once: One with cancer and three small children, one living in Brazil, and one close, but far, and with COVID-19 swallowing us all up by mid-March.”

The Pandemic made her treatment and recovery more difficult and worrying, but she got through it nonetheless. The breast cancer center at Lenox Hill Hospital was commandeered to treat Pandemic patients, and her doctors were scattered to other locations in the New York City. Her follow-up care was managed via telemedicine starting in mid-March, which meant she had to take photos of her body and text them to her plastic surgeon for him to monitor. “I felt like my whole body was a problem area, and was surprised at how emotionally difficult it was to send him photos of myself. 2020 was getting very scary for everyone, and I felt vulnerable and really anxious,” she says.

The second round of reconstruction took place in July, and involved filling in some of the gaps and hollows left from round one, which had been the big and brutal one. The second round took about three hours, and left her body looking beaten black and blue, but the recovery was quick and easy by comparison with the first round. This time, during her follow-up visits, Matt had to drive around the block a few times while Lucy was seen due to visiting restrictions in the hospitals. 

Lucy’s plastic surgeon says he can help with additional surgeries to fix some of the aesthetic issues that show up during the healing process. But any calendar year that passes means a new stab at her family deductible, and she has had to make a mental calculation about what it would cost to repair her body versus her other financial priorities. “Another lonely place to be,” she says.

 

The Genetic Reveal

Lucy and her siblings are now looking into how they can help by joining studies and moving research along. “I think this is a priority for all of us. We are in the middle of our family’s genetic reveal – our father died not knowing anything about the BRCA2 mutation, his kids learned about it after having our children, and our children will need to be tested and make decisions about having biological children with that information in hand,” she says.

 Lucy’s children are the oldest, and she says they have been very present and aware of what the last year has signaled for their own health. Her oldest daughter will get tested in the next five years, her middle daughter after that, and her son in ten or so years. Lucy’s genetics counselor said that the threats of the mutation are adult-onset, and that her children should wait until they are in their mid-twenties to be tested.

“I wish there was a way for me to shield them from all of it, and I look at them every day wondering how they might be impacted,” she says. “I was so grateful to my kids for helping me through this process, for walking with me when I could only shuffle, cooking and making me laugh, and coping in their own ways. But I wish I’d been able to protect them from seeing any of it.”

“As a parent, the idea that my body might be responsible for passing something dangerous on to them is very difficult and painful for me to process. We talk about it a lot, and will have to take it one step at a time. I’m grateful for science and am putting a ton of faith and hope in continued research and development.”

Lucy says that her experience has taught her how personal this process is. She had to find her own way through it. “There are lots of support groups, I’m sure, but that isn’t really my thing. I prefer a lot of quiet thinking and am more of a stare-out-of-the-window-to-process kind of a person. I didn’t share at all on social media while I was going through all this as that just seemed terrifying. It is scary to me to open this door even now, but I think in a lot of ways sharing can help,” she says. 

Lucy now believes that genetic testing is an incredibly powerful tool, and any time it can be used to give people options for treatment and prevention, it should be utilized. “It comes with really heavy truths, and shining a light isn’t easy at all, but the alternative is very dangerous,” she says. When she took her test, she ran a panel that included testing for Lynch and other mutations and found that she is negative for all of them. That allows her to narrow her focus and understand her risks. “I started out being terrified about what all of this would mean for insurance, and have had to fight my way through the medical billing for sure. But knowing is a stronger place to stand.”

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