People sometimes ask Krista Baril Buelna why she had children.
“It’s hope,” she said. “There’s no reason to stop my life.”
A consummate multitasker who almost always seems cheerful, Krista, 32, chooses not to dwell on her family’s genetic inheritance of early-onset familial Alzheimer’s disease. Instead, she takes each day as it comes, and appreciates what she has.
She knew of the risks in 2008 when she married Pima County sheriff’s deputy Rick Buelna, and so did he. Krista and her three siblings have a 50-50 chance of inheriting from their mother, Cheryl Minarik Baril, a genetic mutation that causes Alzheimer’s. And if Krista has it, it is virtually assured that she will get the incurable disease, most likely when she’s in her 40s.
But she’s always wanted to be a mother, so she and Rick decided to move forward without learning whether she has the mutation that is believed to have ravaged at least six people in her family, including her mother, aunt, uncle, grandfather and great-grandmother.
Their choice was to march forward through the fear of what may be society’s most dreaded disease, not retreat from it. Their three kids range in age from 17 months to five years old.
Krista’s younger sister, Kaila Baril, is 23, a recent graduate of Northern Arizona University. Though she’s not in a relationship at the moment, she is eager to get married and have children.
“There are so many things I want to do,” she said. “I feel determined.”
Brothers Kyle and Derek are more reflective about having children.
“Dating is tough,” says Derek, 26. “I am very cautious about starting a family.”
The Baril siblings could take a blood test that would tell them for certain — yes, you have the genetic mutation and will develop Alzheimer’s disease, or no you don’t, which means your children probably won’t grow up without you or develop early Alzheimer’s.
“You weigh the risks on a daily basis,” said Kyle, 29, who is also single. “It’s almost like PTSD. I hate to use that term, I don’t think it is deserving, but that is kind of what I equate it to.”
THE FAMILY BLESSING, CURSE
Derek, who loves to read and is studying creative writing at the University of Arizona, has written about Alzheimer’s.
“As it turns out, the dependability of genetics became the blessing and curse for my family,” he wrote in his essay about his mother, who is battling the disease. “My entire family has developed a system, a behavior, a process for managing our sick relatives. All of us have become more patient people. Answering the same question four, five, six times a day is now endurable.”
Kyle once avoided talking about Alzheimer’s, but as he got older he realized it was up to his generation to act.
In November, the Minarik clan, along with extended family and friends joined together for the annual Tucson Walk to End Alzheimer’s. Kyle volunteers with the Alzheimer’s Association, and advocates for more awareness and research.
“I do think there is a stigma. For a long time I was afraid to tell my friends,” Kyle said. “Now I feel comfortable having my mom interact with anyone.”
He’s also eager to bring more attention to the PSEN1 mutation common in his family and to Alzheimer’s disease in general to attract more advanced research.
“It’s time to change the narrative on Alzheimer’s,” he said. “It has to be curable.”
Kyle reasons that if he has kids, they won’t be at risk for 40 years or more.
That’s a lot of time for scientists to find a way to prevent or cure the disease. But he admits to “down” days when he wonders whether a cure or prevention will come.
He has the sense that he should be making the most of every moment, and sometimes he falls into self-criticism.
“Sometimes I feel like I’m going nowhere fast,” he said.
He told the last woman he dated about his family history and said her response was kind and compassionate.
“We can be harder on ourselves than other people are,” he said.
TO TEST OR NOT
Kyle has been giving serious thought to getting tested for the mutated gene.
The blood test became available in the mid-1990s, shortly after the gene mutations were identified. Yet few people at risk of inheriting early-onset familial Alzheimer’s opt to take it, said Dr. Pierre Tariot, director of the Banner Alzheimer’s Institute in Phoenix.
“In my experience as a practicing physician, probably around 5 percent have chosen to get the answer,” Tariot said.
Theoretically, if everyone at risk for a specific mutation like the one in the Minariks family were to get tested, and those with the mutation decided not to have children, this rare type of Alzheimer’s could be wiped out in a generation or two.
But the question is not purely scientific.
“Each person grapples with that question in his or her own way,” Tariot said. “Imagine the religious convictions some people bring to answering that question. Family values … Some people feel it’s not up to them, it’s up to some mysterious greater force.”
Since there is no cure or prevention for Alzheimer’s, the advantages to getting tested are mainly for life planning and for research purposes — to become part of a clinical trial, for example.
“This is not a test you would ever do on a whim. We try to discourage people from pursuing testing around major life events, such as immediately following the death of an affected relative. You want to be in the best position psychologically,” said Susan E. Hahn, a neurogenetic outreach specialist at Quest Diagnostics in Massachusetts. “No matter what the outcome, the experience can be incredibly overwhelming and disorienting.”
Choosing whether to test for incurable diseases like Huntington’s and Alzheimer’s comes down to, “emotional tradeoffs,” Hahn said.
Some go through the genetic counseling and then choose not to get tested, and some go through with the testing but never show up to get their results. For some, living in limbo is more stressful than knowing they have inherited the mutation.
“Some people make themselves almost ill and psychologically impaired just worrying they will get it,” she said. “The uncertainty almost does them more harm.”
‘THE GENE GUILLOTINE’
For Kate Preskenis, a 40-year-old resident of southern Oregon, the decision against getting tested for autosomal dominant Alzheimer’s was to maintain a “sliver of hope.”
Early-onset familial Alzheimer’s took her mother, aunt, uncle, maternal grandmother and her great-aunt, who was her grandmother’s twin.
Preskenis spent many years weighing her options before deciding against the test. Among other things, she met with a genetic counselor, kept a journal, talked to others in a similar situation, and read geneticist Nancy Wexler’s case studies on Huntington’s disease.
Preskenis also spent 10 years writing a memoir about her experiences called “The Gene Guillotine.” She does her best to look at the uncertainty as a gift.
“It makes you more aware of life and living in the moment,” she said.
Daisy Duarte, also 40, made a different decision. She got tested immediately after learning about the genetic mutation in her family.
Duarte, who lives in Springfield, Missouri, gave up owning a sports bar to be caregiver for her 60-year-old mother, Sonia Cardona, who is in the advanced stages of Alzheimer’s. Two of her mother’s siblings have already died from the disease, another has it, and two others do not appear to have inherited the mutation.
Her grandmother was one of 11 children, all of whom died of Alzheimer’s.Before she was tested, Duarte bought life insurance and long-term care insurance, just in case.
“My faith was that I didn’t have it. That’s what my heart was telling me,” Duarte said.
She tested positive.
Ultimately, though, she’s satisfied with her decision to know. Her brother and sister, who both have children, have chosen not to find out. Duarte is participating in a clinical trial through Washington University and says she’s happy to be part of helping to find a cure.
“I don’t have kids, thank God,” she said. “And my partner is an amazing woman, she is more supportive than ever.”
Day to day, Duarte says she doesn’t think a lot about her status because she is so busy taking care of her mother.
“I don’t dwell on it,” she said. “I leave it to God.”
Since there’s no cure or prevention, the biggest advantages to genetic testing are for life planning and for scientific purposes — volunteering to participate in research.
For life planning, couples whose potential offspring are at risk can choose in vitro fertilization, get a pre-implantation genetic diagnosis for the mutated gene, and only implant embryos without the mutation.
But that option is very expensive, said Hahn, who co-authored the Alzheimer’s genetic testing joint practice guidelines for the American College of Medical Genetics and the National Society of Genetic Counselors.
Congress passed — and president George W. Bush signed into law — the Genetic Information Non-Disclosure Act in 2008, which provides discrimination protection from employers and health insurers.
The law is strong with respect to health insurance and employers and the fines are large, said Gary Marchant, an Arizona Regents professor and expert in law and ethics at the Sandra Day O’Connor College of Law at Arizona State University. He cited a recent example where a federal jury awarded $2.2 million to two workers in Georgia whose DNA was tested by their company. The jury found the company in violation of the non-disclosure law.
The law does not apply to life, disability or long-term care insurers. But some states, including Arizona, prohibit genetic discrimination in life and disability insurance without “actuarial justification.”
THE TRILLION-DOLLAR QUESTION
Autosomal dominant, or early-onset familial, Alzheimer’s is rare, but it is being researched at the Banner Alzheimer’s Institute in Phoenix, the University of London and the Washington University School of Medicine in St. Louis, which has performance study sites around the world. Hereditary Alzheimer’s has many similarities with more common forms of Alzheimer’s, so research could help find a way to wipe out the disease as a whole.
Banner is testing a drug called crenezumab on members of an extended family in Colombia, South America who have tested positive for the genetic mutation before they develop cognitive decline.
Since no one in the family, tormented by Alzheimer’s for generations, wants to know whether they are positive, some who have tested negative are receiving a placebo. No one knows who is receiving the crenezumab and who is receiving the placebo.
Other studies are ongoing, too. The Washington University School of Medicine’s Dominantly Inherited Alzheimer Network is an observational study sponsored by the National Institutes of Health.
A Dominantly Inherited Alzheimer Network trials unit based out of Washington University and funded by industry, private and federal support, works with research centers around the world. The trials unit is testing multiple drugs on at-risk families in the U.S., Canada, Australia, Spain, France, and the United Kingdom.
A nurse travels to Duarte’s home once per month and administers the study medication as part of that research. Duarte has made friends with other people in the network through Washington University and says she feels like she’s contributing to research that could help future generations. She has eight nieces and nephews who are at risk.
One study there has shown that starting as early as 15 or 20 years prior to symptoms, mutation carriers have biomarker changes that show the disease is beginning to take hold in the brain. Researchers are trying to see whether treatments can slow or stop the disease process.
“The trillion-dollar question is, will one of these work? Which one is best? And when’s the best time to treat?” Banner’s Dr. Tariot asked. “We think there’s reason to hope that one of these therapies really could work and that whichever one works is most likely to be maximally effective in what we call the pre-clinical phase, before the brain is ravaged.”
Seated around their grandmother’s kitchen table in October, Derek showed his siblings a graphic design he created for T-shirts the family planned to wear at the Walk to End Alzheimer’s. Their team name: “Early Onset.”
As they talked, Krista, Kaila and Derek said they had no plans to get tested for the genetic mutation. For now Steve and Sheryl Stephens Minarik’s boys, who are younger than the Baril siblings, won’t either.
Kyle has decided to do the same.
“If I was an only child, taking the test would be a no-brainer,” he said. “But with my brother and sisters, it’s got to be either all of us getting tested, or none of us.”
Like his siblings and the generations before them, Kyle will leave the future to unfold when it comes. But unlike prior generations, he knows what that future could hold.
“It’s a big part of my life and it’s heavy,” he said. “I think about it all the time, every hour of every day.”