Heidi Marsh, 46, of Seattle, tested positive for the PALB2 mutation after her mother – a patient with breast and pancreatic cancer – was found to have it. She said her own doctor was not aware of the gene.
“My midwife was aware of my mother’s history and never suggested genetic testing,” Ms Marsh said. ‘She’s never heard of it. I raised her. The oncologist she sent me to did not suggest surgery.”
But Seattle Cancer Care Alliance, a partner of the Fred Hutchinson Cancer Research Center, where Ms. Marsh’s mother had been an oncology nurse, knew about the gene mutation. The group immediately assembled a team that included a surgical oncologist, a pancreatic cancer specialist, a geneticist, a nutritionist and a social worker.
“This has been life-changing,” said Ms Marsh, who had her fallopian tubes removed in April. (She was told that most ovarian cancers first appear in the fallopian tubes. She plans to have her ovaries removed after menopause.)
She will have breast monitoring every six months with alternating mammograms and breast MRIs. She has already had an endoscopic ultrasound to look at her pancreas.
She found a Facebook group, PALB2 Warriors, helpful. Because she has a background in healthcare — she was a phlebotomist — she says she looks beyond individual postings, to studies that are placebo-controlled and peer-reviewed for information. But when it comes to personal experiences with prophylactic mastectomy and reconstruction, she says it’s invaluable.
“This was not remotely on my radar screen,” she said. “In a way I feel strong. But I also feel like I’m waiting for the other shoe to drop, that cancer will be inevitable.”
But above all, she is grateful to know about PALB2 and the risks associated with it.
“It’s an alarm clock and a wake-up call,” she said. “If you want, you can do something about it.”