Gene mutation makes combating cancer the work of a lifetime for family [Detroit Free Press]

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Nov. 20--First of two parts

The killer among the Rauch women lives in their genes, admitting cancerous cells when they least expect it -- when they're young and starting new jobs or still diapering toddlers.

Now, it has attacked again, this time striking Amy Rauch Neilson even as friends planned her five-year remission party. Medical bills were finally paid off. Her 6-year-old son Theo was in kindergarten. "Life was really good," she said.

The Belleville woman did everything to escape the cancer that dogs her family. But it came back, and now she's among a growing group of people who live with chronic cancer, finding hope in new therapies and clinical trials.

Removing the breasts to block breast cancer almost always succeeds. Almost always.

Neilson and her family members -- her two sisters, at least one niece, and maybe even her little boy -- carry what is known as a BRCA1 mutation. It most likely caused the cancers that took her mother and grandmother, and induced cancer in a sister at age 26.

Eradicate BRCA1-related cancer once, and if it returns, it's likely more aggressive.

On Jan. 9, Neilson found the new grape-size lump wedged between her breast implant and her skin. The cancer had metastasized in her chest wall and lungs. Days later, overwhelmed and angry, she ran from her house into the cold. A soft snow fell that day as lights from across Edison Lake pierced the dark. She glared upward to where God might be. "Are you kidding me? Are you kidding me?" she screamed.

"Every family has a legacy. Ours was cancer. ... Cancer is as much a part of our family's heritage as blond hair, height and second toes that are noticeably longer than the first." -- Amy Rauch Neilson

Living with chronic cancer is about balancing well-being with illness, dreams with realities.

It's about answering questions for the umpteenth, teeth-gritting time, enduring awkward conversations and hearing words like "PARP inhibitors" and "lymphocytes." And understanding them.

To many who endure it, chronic cancer is perhaps best characterized as a kind of fatigue that few others can understand, that no amount of sleep can ease.

It's not just the grueling physical side of chemo and doctor's exams and biopsies and surgery. It's that chronic cancer, above all, is about feeling like you've won a race one day to confront new terrifying hurdles the next.

"A headache will never be a headache again," said Barb Hiltz, executive director of the Cancer Support Community of Greater Ann Arbor.

Amy Rauch Neilson -- mother, wife, sister, blogger, writer, activist, Belleville resident -- carries a genetic mutation of the BRCA1 gene. The 42-year-old is propelled as much by anger as by the will to survive for her 6-year-old son, Theo.

Doctors removed her breasts and ovaries to try to stop the cancer. But it was not enough. Now, with cancer in her lungs and chest wall, she has become representative -- through her artful blog and memoir in the works -- of a growing group of people, never really cancer-free, who manage it as a chronic disease.

And as medicine better understands genetics, more focused chemotherapy may not only extend the lives of people with chronic cancer, but also improve its quality compared with the broad, harsh toxins of traditional chemo treatments.

Neilson has maintained her weight since the cancer recurred in January and -- unlike the first time she had chemotherapy in 2006 -- kept the blond hair she shares with her sisters.

Some days, exhausted from treatments, she parks in the handicap spots at the grocery store, prompting glares from people who don't understand that she's barely able to drag herself across the pavement.

"The public often thinks 'Cancer? Either you're cured or you die.' For a lot of people, there is no clear-cut ending. They know this will be around for awhile, and it's about managing it the best they can," said Kathleen Hardy, an oncology social worker at the Karmanos Cancer Institute's Weisberg Center in Farmington Hills.

"This is probably the least understood thing about cancer -- the chronic cancer. You can look good, but you have this cloud that follows you and it will never go away," she said.

Genetics and statistics

Neilson is downright furious at the deadly chromosomal flaw associated with the kind of cancer that most likely claimed her grandmother in 1947 when her daughter, Neilson's mother Phyllis, was just 9.

It was the same mutation that brought the cancer that later ravaged Phyllis Rauch for 19 years before it killed her in 1992 -- an excruciating battle detailed in hundreds of pages of medical notes Neilson now keeps neatly stacked in a box bound by rubber bands.

And, in her worst moments, Neilson -- a woman with blow-you-down energy and fluorescent fingernail polish -- realizes that it might lie yet undetected in her little boy's chromosomes.

Theo Neilson is a freak for frogs and anything dinosaur.

He knows that Mommy makes his lunches and helps in his classroom and that she was behind his August birthday bash that featured a red tree frog pinata and local amphibian expert. He also knows to use his "inside voice" on days when Mommy's curled up on the couch and doesn't talk. "Nausea" and "chemo," he knows.

For her part, Neilson knows the statistics. Just 15% of those who are diagnosed at Stage IV breast cancer are alive five years later, and there's a 50-50 chance she passed the gene to Theo, boosting his risk of prostate and other cancers.

She tells him the truth about everything except that. Not yet.

"How do you talk about percentages to a little boy? How do you tell him what might happen in 2025 or 2035 or 2045?" she said.

Plus, right now, there's urgency in other things, from making doctor's appointments and eking out time for everything she can possibly fit into her schedule, even as there is hope, said Patricia Miller, a nurse practitioner at the PsychOncology Clinic at the University of Michigan Cancer Center, who meets and e-mails with Neilson.

"There's this incredible bravery, but incredible weariness, too. No one can say exactly when these treatments will end with her. There's always this uncertainty, this level of anxiety that's really tough to manage," Miller said.

Earlier this year, a weakened immune system sent Neilson to the hospital with an infection from a common bacteria. For most people, it's a nuisance. For Neilson, it was five terrifying days in isolation as ugly black boils jutted through her skin.

"I will never be cured of Stage IV cancer. I know that. ... But there's something new to fight it -- a new trial drug -- not every few years now but every few months. And when the one stops working in my body, I'll go to the next one," she said. "I'll just keep pushing until I get to the next mark."

Not if, but when

All humans carry BRCA1 and BRCA2 genes. Studies have suggested 1 in 300 to 1 in 800 people carry the mutation that makes them susceptible to cancer, said Sue Friedman, executive director of Facing Our Risk of Cancer Empowered, FORCE, a Tampa-based support group for those with a genetic risk for breast and ovarian cancer.

For carriers and loved ones, the mutation puts life's questions -- marriage, children, jobs and health insurance -- into a painful perspective.

Heidi Wagner, whose mothers and sisters carry the mutation and who was diagnosed with breast cancer in 2009, now helps lead the Ann Arbor chapter of FORCE.

In families with the BRCA1 or BRCA2 mutation, "you're around cancer and you're around people who are dying of cancer, or you grew up not knowing relatives because they were gone. It's not if you get cancer, it's when," she said.

Even "previvors" -- those who haven't yet been diagnosed -- become entangled in layer upon layer of best- and worst-case scenarios, faith and fear.

Many choose radical surgery to reduce the risk of cancer or its return. Some struggle with whether to tell potential spouses or whether to have children. If they have children, they struggle with what to advise them. And those children, in turn, must decide whether to be genetically tested once they're old enough.

In 2006, the University of Michigan froze eight embryos from Neilson and her husband, Don, with the hope the Neilsons could give baby Theo a brother or a sister after Amy Rauch Neilson's chemo was finished. Chemo can destroy reproductive organs and send women into premature menopause.

"The embryos are there and they are hope," Neilson said this summer.

But the woman who never knew her grandmother and whose own mother died when Neilson was in her 20s also wonders: What if she dies tomorrow? What if she's cured?

Is it right to possibly pass on a deadly gene? Is it right to destroy an embryo because of indecision?

"There's a part of me that doesn't want to make this decision. And every November, the University of Michigan sends me a bill to keep these embryos in cryofreeze. And every year, I pay the bill."

Contact Robin Erb: 313-222-2708 or [email protected]

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