People sometimes ask Krista Baril Buelna why she had children.
โItโs hope,โ she said. โThereโs no reason to stop my life.โ
A consummate multitasker who almost always seems cheerful, Krista, 32, chooses not to dwell on her familyโs genetic inheritance of early-onset familial Alzheimerโs 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 sheriffโs 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 Alzheimerโs. And if Krista has it, it is virtually assured that she will get the incurable disease, most likely when sheโs in her 40s.
But sheโs 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 societyโs most dreaded disease, not retreat from it. Their three kids range in age from 17 months to five years old.
Kristaโs younger sister, Kaila Baril, is 23, a recent graduate of Northern Arizona University. Though sheโs not in a relationship at the moment, she is eager to get married and have children.
โThere are so many things I want to do,โ she said. โI feel determined.โ
Brothers Kyle and Derek are more reflective about having children.
โDating is tough,โ says Derek, 26. โI am very cautious about starting a family.โ
The Baril siblings could take a blood test that would tell them for certain โ yes, you have the genetic mutation and will develop Alzheimerโs disease, or no you donโt, which means your children probably wonโt grow up without you or develop early Alzheimerโs.
โYou weigh the risks on a daily basis,โ said Kyle, 29, who is also single. โItโs almost like PTSD. I hate to use that term, I donโt think it is deserving, but that is kind of what I equate it to.โ
THE FAMILY BLESSING, CURSE
Derek, who loves to read and is studying creative writing at the University of Arizona, has written about Alzheimerโs.
โAs it turns out, the dependability of genetics became the blessing and curse for my family,โ he wrote in his essay about his mother, who is battling the disease. โMy 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.โ
Kyle once avoided talking about Alzheimerโs, 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 Alzheimerโs. Kyle volunteers with the Alzheimerโs Association, and advocates for more awareness and research.
โI do think there is a stigma. For a long time I was afraid to tell my friends,โ Kyle said. โNow I feel comfortable having my mom interact with anyone.โ
Heโs also eager to bring more attention to the PSEN1 mutation common in his family and to Alzheimerโs disease in general to attract more advanced research.
โItโs time to change the narrative on Alzheimerโs,โ he said. โIt has to be curable.โ
Kyle reasons that if he has kids, they wonโt be at risk for 40 years or more.
Thatโs a lot of time for scientists to find a way to prevent or cure the disease. But he admits to โdownโ 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.
โSometimes I feel like Iโm going nowhere fast,โ he said.
He told the last woman he dated about his family history and said her response was kind and compassionate.
โWe can be harder on ourselves than other people are,โ 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 Alzheimerโs opt to take it, said Dr. Pierre Tariot, director of the Banner Alzheimerโs Institute in Phoenix.
โIn my experience as a practicing physician, probably around 5 percent have chosen to get the answer,โ 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 Alzheimerโs could be wiped out in a generation or two.
But the question is not purely scientific.
โEach person grapples with that question in his or her own way,โ Tariot said. โImagine the religious convictions some people bring to answering that question. Family values โฆ Some people feel itโs not up to them, itโs up to some mysterious greater force.โ
Since there is no cure or prevention for Alzheimerโs, the advantages to getting tested are mainly for life planning and for research purposes โ to become part of a clinical trial, for example.
โThis 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,โ said Susan E. Hahn, a neurogenetic outreach specialist at Quest Diagnostics in Massachusetts. โNo matter what the outcome, the experience can be incredibly overwhelming and disorienting.โ
Choosing whether to test for incurable diseases like Huntingtonโs and Alzheimerโs comes down to, โemotional tradeoffs,โ 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.
โSome people make themselves almost ill and psychologically impaired just worrying they will get it,โ she said. โThe uncertainty almost does them more harm.โ
โTHE GENE GUILLOTINEโ
For Kate Preskenis, a 40-year-old resident of southern Oregon, the decision against getting tested for autosomal dominant Alzheimerโs was to maintain a โsliver of hope.โ
Early-onset familial Alzheimerโs took her mother, aunt, uncle, maternal grandmother and her great-aunt, who was her grandmotherโs 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 Wexlerโs case studies on Huntingtonโs disease.
Preskenis also spent 10 years writing a memoir about her experiences called โThe Gene Guillotine.โ She does her best to look at the uncertainty as a gift.
โIt makes you more aware of life and living in the moment,โ 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 Alzheimerโs. Two of her motherโs 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 Alzheimerโs.Before she was tested, Duarte bought life insurance and long-term care insurance, just in case.
โMy faith was that I didnโt have it. Thatโs what my heart was telling me,โ Duarte said.
She tested positive.
Ultimately, though, sheโs 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 sheโs happy to be part of helping to find a cure.
โI donโt have kids, thank God,โ she said. โAnd my partner is an amazing woman, she is more supportive than ever.โ
Day to day, Duarte says she doesnโt think a lot about her status because she is so busy taking care of her mother.
โI donโt dwell on it,โ she said. โI leave it to God.โ
PLANNING AHEAD
Since thereโs no cure or prevention, the biggest advantages to genetic testing are for life planning and for scientific purposes โ 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 Alzheimerโs genetic testing joint practice guidelines for the American College of Medical Genetics and the National Society of Genetic Counselors.
Congress passed โ and president George W. Bush signed into law โ 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 OโConnor 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 โactuarial justification.โ
THE TRILLION-DOLLAR QUESTION
Autosomal dominant, or early-onset familial, Alzheimerโs is rare, but it is being researched at the Banner Alzheimerโs 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 Alzheimerโs has many similarities with more common forms of Alzheimerโs, 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 Alzheimerโs 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 Medicineโs 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 Duarteโs 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 sheโs 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.
โThe trillion-dollar question is, will one of these work? Which one is best? And whenโs the best time to treat?โ Bannerโs Dr. Tariot asked. โWe think thereโs 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.โ
THE DECISION
Seated around their grandmotherโs 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 Alzheimerโs. Their team name: โEarly Onset.โ
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 Minarikโs boys, who are younger than the Baril siblings, wonโt either.
Kyle has decided to do the same.
โIf I was an only child, taking the test would be a no-brainer,โ he said. โBut with my brother and sisters, itโs got to be either all of us getting tested, or none of us.โ
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.
โItโs a big part of my life and itโs heavy,โ he said. โI think about it all the time, every hour of every day.โ
