At age 29, Kyle Baril expects he has at least 12 good years ahead of him.
After that, the odds are 50-50 that Alzheimer’s disease will take hold of his brain.
The disease many Americans fear more than anything has attacked Kyle’s family for generations. The early-onset hereditary Alzheimer’s that affects his family is rare, yet some scientists say it could hold a key to preventing the disease as a whole.
Like his three siblings, it’s as likely as not that Kyle has a gene mutation passed down on his mother’s side of the family. Barring any
breakthrough, anyone who has the mutation is virtually assured to develop autosomal dominant, or early onset, familial Alzheimer’s. An estimated 5,000 to 10,000 people worldwide have this form of the disease, representing less than 1 percent of Alzheimer’s cases.
In Kyle’s family, those who have the mutation typically develop short-term memory problems in their 40s. Their symptoms progress until they need diapers and lose the ability to talk, walk, or feed themselves. Most die by 51.
Kyle’s mother, Cheryl, was diagnosed at age 47 and can no longer read or sign her name. Cheryl’s brother and sister already have died of the disease.
Kyle, who works at a Tucson sales and marketing firm, is the second oldest child in his family. A simple blood test would tell him definitively whether he inherited the genetic mutation. It could help him decide whether to to risk having children.
He’s thought a lot about getting the test. If there were a way to prevent or cure the disease — or even to slow its progression — his decision would be easy.
“It’s a completely different beast from cancer, HIV/AIDS or addiction,” he said. “Right now, it’s 100 percent hopeless.”
Though the family’s knowledge of their ancestors is incomplete, they believe at least four generations have been affected by Alzheimer’s. They have traced the illness as far back as Kyle’s great-great grandmother Emma Lydia Hayworth Smith. Emma, who had nine children, died in a mental institution of what is now assumed to be early-onset familial Alzheimer’s disease.
One of her children — Kyle’s great-grandmother — was Clarabel Smith, a gentle Quaker from Pennsylvania who married a dynamic, headstrong lawyer named Frank Stuyvesant Minarik. They lived in New York City and moved to Arizona in 1925 due to Frank’s arthritis.
Clarabel died in a sanitarium in Phoenix in 1947 when she was 46. Her family says the death was due to complications from non-sedated shock treatments. Back then, there was no name for what was taking away her mind. The family at the time would say she suffered from an affliction that affected females in the family around menopause.
Clarabel’s son, Smith “Smitty” Minarik, was nine when his mother died. Smitty, a gentle person like his mother, was Kyle’s grandfather. He grew up in Tucson and went on to become a social studies teacher at Palo Verde High School.
Smitty and his wife, Mary Kay, had three children — Cheryl, Beth and Steve, born between 1960 and 1965.
Smitty died in 1988 at age 51 of complications from Alzheimer’s. All three of his children, unaware of the family’s genetic roulette as they grew up, started having memory problems in their 40s.
Beth, a former Tucson High School physical education teacher, and Steve, who was a teacher in Tucson, Prescott and South Korea, both succumbed to Alzheimer’s disease — Beth at 50 and Steve at 49.
At 55, Kyle’s mother, Cheryl Minarik Baril, has outlived expectations. She was diagnosed in 2008 but, until this past year, her disease showed few advances. Now she’ll start to say a word — swimming, for example, or graduation — but can’t finish it.
She often puts on her shirts backwards or inside out, and rarely can tie the laces on her sneakers.
Kyle, along with his siblings and cousins, has watched this progression with a combination of grief at losing a parent and fear at what the future might hold.
Cheryl’s four children range in age from 23 to 32. Steve’s sons are 17 and 19.
Scientific advances make them the first generation in the family to face the decision of whether to be tested for the genetic mutation while they are still young and healthy.
They’re the first to know that, should they decide to have children, they could pass the gene along. It’s not just a theoretical discussion: Kyle’s older sister, Krista Baril Buelna, is married with three children of her own.
Smith “Smitty” Minarik had a signature honk of his car horn — three blasts to say ‘I love you.’
Born in 1937 in Tucson, Smitty was a softie — the opposite of his tough-guy father. Frank Minarik, a local civic leader and real estate broker, was West coast campaign manager during his college roommate Estes Kafauver‘s bid for the Democratic presidential nomination in 1952.
A photo in the Arizona Daily Star archives shows Frank, then chairman of the Pima County Democratic Party, riding in a car with presidential candidate John F. Kennedy in Tucson in April 1960.
After Frank married Clarabel Smith and moved to Tucson in 1925, the couple purchased 30 acres at Pima and Wilmot and built a home. Clarabel died at age 46 and Frank, strong and opinionated, raised his three children — Smitty, Mary and Clara Joe — on his own.
Smitty was 9 when his mother died, and he grew up not knowing exactly why. He thought maybe her mental problems stemmed from hardening of the arteries, or perhaps diabetes.
The family knows little family history before Clarabel, though one of Smitty’s sisters recently discovered that Clarabel’s mother, Emma Lydia Hayworth Smith, died in a mental institution, too. The family now believes both Emma and Clarabel had the devastating early-onset familial Alzheimer’s that is part of the Minarik family bloodline.
After graduating from Tucson High in 1955, Smitty went to Trinity University in San Antonio, Texas, where he met Mary Kathlyn Hatch. The two married in 1959 in Breckenridge, Texas two weeks before Mary Kay, as she was known, turned 20. Smitty, 22 at the time, had just graduated with a major in government and history. As was common in those days, Mary Kay left school when they married.
“We knew when we married that there was something in the family that happened to women around menopause,” said Mary Kay. “But we had no clue there was Alzheimer’s in the family. We didn’t talk about Clarabel. It was sort of a taboo subject.”
EVERYBODY KNEW WHAT THREE DOTS MEANT
After completing a commission in the U.S. Army Reserves, Smitty settled with Mary Kay on Tucson’s east side. He began teaching high school, ultimately landing at Palo Verde High School as a social studies teacher.
With his sport coat, Smitty wore large, wide ties made by his aunt Markie in New Jersey. They were loud — a bright pink and chartreuse Hawaiian print, a blue one with Superman on it. He liked to make his students laugh.
And he liked to show his family love. When Mary Kay or the kids would rip a paper towel from the dispenser they’d occasionally find, “I love you” written by Smitty. He frequently wrote those same three words in the snow outside the Minarik family cabin on Mt. Lemmon. Sometimes he’d leave a note with just three dots on it — and they all what knew it meant. “I love you.”
“Smitty was soft, loving, and he played with the kids,” Mary Kay said. “I was always the disciplinarian.”
The family wasn’t watching for signs of Alzheimer’s in Smitty because they had no reason to think he was at risk. Back then, they didn’t have a name for what had afflicted Clarabel — and they believed it only went after women. One of Smitty’s sisters was adopted, so they didn’t worry about her. There was some concern about his biological sister, Clara Joe, but it turned out she did not inherit the genetic mutation.
Frank died in 1974 when Smitty was 37. A few years later, Smitty started asking Mary Kay questions she’d already answered, such as where they were going to dinner. He’d ask the same question two or three times within an hour.
It’s difficult to pinpoint exactly when Smitty’s symptoms began because early stages of Alzheimer’s often look like absentmindedness. The disease tends to start depositing plaques and tangles in the temporal lobe, which deals with memory and language.
With Smitty, the symptoms looked like a prolonged depression.
BILLS GO UNPAID AND THE MIND DRIFTS
Not knowing what was wrong, Smitty and Mary Kay went to a Marriage Encounter weekend through their church. It was a disaster. The leader asked them to write letters to one another; Smitty could not stay on topic.
Then Mary Kay found out that Smitty had not been recording grades all year. The family’s finances were in shambles — property and income taxes had gone unpaid, and Smitty had been taking bills from the mailbox but not paying them. Palo Verde High School put him on medical leave.
By 1980, doctors had a diagnosis.
“I’d never heard of it,” Mary Kay said. “Alzheimer’s. It was a new word to me.”
Alzheimer’s disease was named in 1910 for a German psychiatrist named Dr. Aloysius “Alois” Alzheimer, who first noticed the disease in a patient in 1906. The patient had profound memory loss and when she died, Alzheimer noticed her brain was shrunken and had unusual deposits in and around the nerve cells. Those deposits would later be identified as beta amyloid.
But when Smitty was diagnosed, not many people were talking about Alzheimer’s.
He asked Mary Kay whether he was going to die.
“I said, ‘Yes, but not any time soon’,” Mary Kay recalled. “We acted like nothing was wrong. We just told him he had depression problems. He never made a fuss.”
Unable to work, Smitty began to run, going miles and miles near his home. He continued to get up early every morning — at 5 or 5:30 — as he’d done his whole life. He’d get the newspaper and coffee and weather permitting, enjoy them outside. He continued to drive, though Mary Kay monitored him and never let him go far.
Occasionally his disease would cause problems, like when solicitors would knock on the front door asking for donations. Smitty invariably gave away more than the family could afford. His two younger children were still in high school and Steve was sometimes embarrassed by his father. Unsure of what he’d do or say, his son didn’t really want him at his baseball games.
SMITTY MAKES A U-TURN AND DISAPPEARS
In 1982, Smitty beamed as he walked his eldest daughter, Cheryl, down the aisle of Christ Presbyterian Church at her marriage to Mark Baril.
“He was very, very happy that day,” Mark remembers.
When they did yard work together, Smitty would tell Mark that ‘a lazy man works himself to death,’ meaning it’s better to do all the work, no matter how difficult, than to take shortcuts. Shortcuts will catch up to you.
He never seemed to have a down day, and he enjoyed the little things, like eating apples — every last bit of them.
“If you didn’t eat your core, he’d frown on you,” Mark said.
Then one day in 1983, Smitty went missing.
He had gone with Mary Kay to pick up her car at the mechanic’s and they drove home separately, with Smitty following his wife.
“He made a u-turn and disappeared,” Mary Kay said. “We had half the church looking for him.”
Eventually Mary Kay got a call from a police officer. He’d found Smitty driving about five miles per hour on a dirt road near the airport, crying. A friend drove Mary Kay to where he was waiting with the police.
“I’m so sorry,” he told his wife.
He never drove again.
DIDN’T KNOW WHERE HE WAS BUT “HAVING A BALL”
As Alzheimer’s progresses, the plaques and tangles in the brain tend to build up in areas associated with thinking and cognition, including the parietal lobe, which handles information about space, place and movement. Damage to this lobe can cause people to feel lost even when they are in places that were once familiar.
As a result, people with Alzheimer’s disease often react poorly to change and like to stay in the same place.
That was not true for Smitty, who traveled throughout most of his illness.
“Smitty always wanted to be where I was. I was his anchor,” Mary Kay said.
Three years before he died, they went to Europe for a month with two other couples.
“He didn’t know where he was but he was happy as a clam. He was having a ball,” Mary Kay said. “Everyone knew you had to watch for him.”
The year before he died, the couple went on a raft trip down the Grand Canyon with friends. Then a few months later, Mary Kay tried taking him on a road trip through California with her parents. He pounded on the windows as though he was being kidnapped.
Mary Kay turned the car around.
Smitty’s downward slide had begun and it quickly picked up momentum. He shortened his runs, eventually to just the corner and back. Then he quit.
“He was afraid to get lost, I think,” Mary Kay said.
Their granddaughter Krista Baril Buelna was born in 1983 and remembers Smitty sitting on the floor with her as she played with a new Barbie house she got for Christmas. She mostly remembers her grandmother taking care of him, and how Mary Kay would buy her a Kit Kat every time they went to the medical supply store.
Mary Kay changed Smitty’s diapers, cut his food and never left him alone. At the end, Smitty began having seizures and was increasingly confused. He also had uncharacteristic bouts of anger.
When he pulled a fire extinguisher off the wall and threw it while at an adult day program, he was asked not to return. Walking became difficult and when he fell, Mary Kay was unable to pull him back up on her own.
Mary Kay found a neighborhood group home, and that’s where Smitty spent the last six weeks of his life.
Alzheimer’s disease leaves people so debilitated that they are increasingly susceptible to infections and illness. So it’s not technically the Alzheimer’s that kills them, but really, Mary Kay says, it is. Smitty died of pneumonia on Oct. 19, 1988 at the age of 51.
Mary Kay donated his brain to the University of California, San Diego. Researchers there confirmed the Alzheimer’s diagnosis.
As the hearse pulled away from the cemetery after his burial, Mary Kay asked the driver to honk the horn three times.
The relaxed smiles in a 2005 Minarik family photo taken in Hawaii were, in retrospect, the calm before a storm of illness to come.
Mary Kay Minarik Bush chose Hawaii in part because she knew that her middle child, Beth Minarik, liked the beach. Mary Kay wanted a place the whole family could enjoy.
Somewhere deep in the back of her mind, Mary Kay suspected something might be wrong with Beth, who had recently moved back to Tucson from Denver.
Her daughter hadn’t given a reason for moving home after just two years in Colorado, where she’d relocated to be closer to friends. By all accounts, she’d loved it there. She lived downtown, rode her bike everywhere and had a good job teaching high school.
“I think she came back from Denver because she thought something was wrong,” her mother said. “She had to have felt it.”
But it wasn’t evident on the Hawaii trip, which Mary Kay paid for. After her husband Smitty Minarik died of Alzheimer’s disease at the age of 51, she was able to get the family’s finances on track, selling some of the real estate that Smitty’s father had left to them.
Smitty’s mother had died in a sanitarium in Phoenix at the age of 46. It’s now assumed she had Alzheimer’s disease, too.
The disease is rampant in the Minarik family. Anyone whose parent had the mutation that causes early onset familial Alzheimer’s disease has a 50-50 chance of having it, too. And virtually everyone with the mutation will get dementia, usually in their 40s.
In the worst possible roll of genetic dice, all three of Mary Kay and Smitty’s three children inherited the mutation.
GINGERBREAD HOMES AND WARM MEMORIES
Born in 1963, the middle of the three Minarik children, Beth was the first to get sick — and the first to die.
She was self-confident, romantic and a Daddy’s girl. When she bought a house on Tucson’s east side, she found the gate code easy to remember because it was 3335. Like her dad, she saw the number three as a way to say ‘I love you.’ And five was for the Minariks — Mary Kay, Smitty, Cheryl, Beth and Steve.
She loved to have her nieces over for ‘girls nights’ sleepovers at her house, where every Christmas she’d made a gingerbread house that was the definition of sophisticated perfection.
“She was my favorite aunt,” Krista Baril Buelna said. “She was all glamour.”
Always physically fit, Beth was a competitive swimmer who showed her strength in her favorite event — the butterfly stroke.
When she became a teacher, she helped a group of students from Pueblo High School fund raise and then took them to Greece, “to take them out of their comfort zone”, she told her family. She started a swim team at Pueblo when she found out the low-income school didn’t have one. When several students said they were interested but couldn’t swim, she taught them how.
She also taught at Tucson High and Doolen Middle School.
DESPERATE SEARCH LEADS TO NEUROLOGIST
A few months after the family returned from Hawaii, Beth’s duties at Tucson High switched from teaching physical education to teaching health, a position that required more paperwork. That’s when things began to unravel.
“She asked me to help her correct papers and she opened her car trunk and these tests were all over the place,” her mother said. “She told me she was hearing comments that they were going to fire her.”
Beth had become forgetful. Then she accused a close friend of stealing her purse and called the police. It was increasingly apparent something was wrong.
Administrators at Tucson High placed Beth on ‘assignment to home’ and referred her to a doctor. The first evaluation did not go well — and neither did subsequent doctor’s visits.
“I remember a lot of fights,” Mary Kay said.
Beth started carrying a butcher knife in her purse and put a lock on her bedroom door. Desperate for help, Mary Kay contacted the Pima Council on Aging, and officials there connected her with a nurse at Tucson Medical Center.
The nurse told her the person she needed to see was University of Arizona neurologist Dr. Geoffrey L. Ahern. By that time, genetic testing for mutations that cause hereditary Alzheimer’s was available.
On March 1, 2006 a blood test confirmed Beth had a disease-causing mutation. For the first time, the Minarik family’s gene mutation was identified — PSEN1, codon 173, nucleotide position 519, DNA variant 1, with a specific amino acid change from leucine to phenylalanine.
Ahern gave Beth a diagnosis: autosomal dominant Alzheimer’s disease from a Presenilin 1 (PSEN1) mutation. She was 42 years old.
In cases like this, “The genetic code is misspelled,” said Dr. Pierre Tariot, a geriatric psychiatrist who is director of the Banner Alzheimer’s Institute in Phoenix. “If have a mutation such as this, you are virtually certain to experience early onset Alzheimer’s disease.”
A WEEPING WOMAN WALKS THE STREETS
Like her dad, Beth never talked about Alzheimer’s disease. But unlike him, she did not implicitly trust Mary Kay. Sometimes she turned her frustration on her mother.
She lived on her own for a few years, but eventually failed to pay her mortgage and other bills, and would put random household items in her car and drive around Tucson. When Mary Kay offered to build her daughter a casita on her property, Beth agreed and helped design it. But on the day she was supposed to move in, she locked herself in her house.
“She never accepted being in the casita and would not let me sell her house and it was a really good market. But I couldn’t sell it without power of attorney,” Mary Kay said.
Beth starting having panic attacks and got lost frequently. She stopped putting sheets on her bed and began sleeping on a bare mattress on the floor. Mary Kay went over one day and there was blood all over the mattress and the house. Beth’s disease was affecting her ability to use feminine hygiene products for her periods.
The neighbors called Mary Kay to say Beth was walking up and down the streets of her gated community, crying. She threatened a neighbor and then scared her mother so badly that Mary Kay locked herself in a room and called Mark and Cheryl for help.
‘YOUNG AND STRONG’ AND DISRUPTIVE
Mary Kay contacted a lawyer, who advised her that since Beth was a danger to herself and others, her mother needed to act. Mary Kay called police, got a neighbor to assure Beth that she’d looked after her Weimeraner, Tango, and had Beth admitted to the psychiatric unit at Banner University Medical Center South. then called Kino Hospital.
Mary Kay got conservatorship and power of attorney so that she could sell Beth’s house and handle her finances and medical care.
Beth lived with her after getting out of the hospital, but she grew combative. Her beloved niece Krista, living with Mary Kay part-time while her husband worked in Ajo, became fearful of Beth.
That’s when Terri Waldman got involved. Waldman at the time was executive director of Pacifica, a 70-bed assisted-living memory care facility comprised of five cottages with 14 people in each one. Since Beth was younger than most people with Alzheimer’s disease, a lot of facilities wouldn’t take her. Waldman said she would.
“It was a risk because she was young and strong,” said Waldman, who is now the geropsych director at Tucson Medical Center. “I felt we could manage her with a team approach — we contracted with a geriatric psychiatrist — to find the best and safest environment for her.”
Beth did well at Paciifa, but her youth posed a challenge.
“She would go in and out of the cottages slamming the doors and running very fast. The average age was 77 so to have a 48-year-old yelling loudly and slamming doors — it was not hurting anybody but most people would want to stop it,” Waldman said.
She stayed for three and a half years, at a cost of more than $200,000 — $5,000 a month, plus prescriptions and diapers.
By the time Mary Kay tried to get her daughter long-term care insurance, her symptoms had progressed and Beth was denied. Mary Kay was able to pay for Beth’s care with a combination of Beth’s disability and Social Security payments, her savings and proceeds from the sale of her house.
Eventually, Beth began having trouble walking and feeding herself. One day she could do neither. She needed a wheelchair and soon began sliding out of it. At that point, Mary Kay put a hospital bed in her guest room and brought Beth home.
Beth lived for another month. In her final days, she had a seizure and fluid began building up in her lungs. She could no longer make eye contact.
“The person we cared for wasn’t there anymore,” Mary Kay said. “Her body was just doing what it automatically does — it was breathing as long as it could.”
Beth died on April 1, 2014. She was 50.
By then, Beth’s siblings Steve and Cheryl had both been diagnosed with Alzheimer’s disease.
Steve Minarik was the last of the three Minarik siblings to be diagnosed with early onset familial Alzheimer’s disease.
He was 43 years old. His children were 10 and 12.
“Even though both of us were expecting it, it did not make the news any less devastating,” his wife, Sheryl Stephens Minarik, said. “Driving home from that appointment was gut wrenching and tear-filled.”
Steve was diagnosed on Feb. 2, 2009. He died on July 27, 2015.
TINY JOGGING SHORTS AND COWBOY BOOTS
Born in 1965, Steve was an avid baseball player who loved golf, big band music and his family. He was popular, social and good looking, with the same striking blue eyes as his father and two sisters. He played trumpet in the Santa Rita High School band, and especially loved the 1812 Overture.
Steve met his future wife Sheryl at the University of Arizona when both were earning their bachelor’s degrees in education and were student teachers at Amphitheater High School. Before they dated, Sheryl invited Steve to happy hour and asked him to wear his cowboy boots with his Levi’s 501 jeans and polo shirt because he looked so good in them. But when Steve turned up at the bar, he was wearing a crisp white shirt with tiny jogging shorts, tube socks and his cowboy boots.
“I’ve got my boots on!” he exclaimed as he walked in.
Her friends thought it was hilarious, but Sheryl wanted to crawl under the bar. Ultimately, watching him with his nieces and nephews won her over.
When he arrived at his sister Cheryl’s and brother-in-law Mark’s house, the kids would run out the door yelling, “Unca Steve! Unca Steve!.” Steve crouched down and opened his arms wide.
Then, and for the rest of his life, his biggest love was his family.
“That was it for him,” Sheryl said. “Family made him very content.”
When she and Steve were just starting out together, Sheryl knew there was “something in his family” but no one said much about the disease that had killed Steve’s father, grandmother and great-grandmother. It turned out to be early-onset familial Alzheimer’s disease. Everyone in Steve’s gene pool has a 50-50 chance of inheriting the mutation that causes it — and virtually everyone with the mutation gets the disease.
“I really didn’t pay much attention to the Alzheimer’s. People did ask, and they’d ask if I was worried, but what was I going to do?” Sheryl said. “I loved him, I wanted to marry him and it seemed a remote possibility that he’d ever get sick.”
The couple married in 1993 and they taught school and lived in Tucson for several years — Steve at Flowing Wells High School and Sheryl at Tortolita Junior High School. Then Sheryl took eight years off when the couple had their sons, born in 1996 and 1998.
“Steve worked his tail off, literally,” Sheryl said. “He was never afraid to work hard and told me to just resign and that he would find more work. At the time, I cut our income exactly in half and I think we were both making about $28,000. But Steve was undaunted and believed that my staying home was important.”
When Sheryl eulogized her husband last year, she recalled how Steve worked lunch duty because he got paid and received free lunch, sponsored an after-school chess club, taught night courses and coached, all while working toward his master’s degree in educational leadership from Northern Arizona University. He graduated in 1997 with a perfect 4.0 grade-point average.
“Not once during the eight years that I was home with the kids did Steve ever question me about what I did all day, where I was spending money, why the house wasn’t cleaner,” Sheryl said. “I can honestly say that he always came straight home from work with a positive attitude, even though he may have been apprehensive about what he might find.”
In 2005 the family moved to South Korea, where both Sheryl and Steve taught for two years. He taught computer skills and at one time had both of his own children in his class.
A LETTER OF REPRIMAND
At first, the signs were subtle. Steve was forever misplacing his wallet.
But one day in 2007, after the family had moved to Prescott Valley and set about finding a house to buy, Sheryl mentioned a brown house they’d seen and Steve became quiet. Then he started to cry.
“I don’t know what house you are talking about,” he said. “What are we going to do if I have Alzheimer’s disease?”
Sheryl started crying, too.
“I’ll take care of you,” she said.
Steve’s first job in Prescott Valley was teaching high school economics, a subject he’d never taught before. He was working all the time and seemed overwhelmed. Sheryl was relieved when he got a job teaching social studies for the 2008-09 school year, because he loved history. Maybe things would get better. But on Labor Day weekend at the beginning of school, he suddenly began weeping.
“I thought I was going to throw up,” Sheryl said. “Steve was really depressed, lost a lot of weight and really just stopped communicating with us. Thankfully, the kids don’t remember that.”
Sheryl and Steve’s mother, Mary Kay, clung to the best-case scenario: depression. Steve went on an antidepressant and, for a while, it helped. Throughout that semester, Sheryl went to school with her husband every Sunday to help him get organized.
“I was trying to pretend everything was all right with my kids,” she said. “I would ask him, ‘How is school?’ He would always say, ‘It’s okay’.”
But over Christmas break Sheryl discovered a letter of reprimand in Steve’s backpack that said if he didn’t improve in 90 days, his contract would not be renewed.
Sheryl panicked. She called Mary Kay and they made an appointment with University of Arizona neurologist Dr. Geoffrey L. Ahern, who had also treated Steve’s sister Beth.
After some cognitive testing and a blood test, Ahern delivered the bad news. The next day was Steve’s last day of teaching.
‘WHY AM I HERE?’
For several years, Steve seemed to be on a plateau. The family got a golden retriever named Boomer and Steve walked the dog five or six times per day.
“Boomer kept Steve content and busy for quite a long time,” Sheryl said.
Their dad’s decline was difficult for the boys. At least once Steve had a bowel movement and missed the toilet. One of the boys cleaned it up before Sheryl got home.
Steve declined to a point where Sheryl no longer felt safe leaving him alone. First he went into adult day care, and the following year, a few months after his sister Beth died of Alzheimer’s, the family felt he needed something fulltime.
On Sept. 1, 2014 he moved into Pacifica in Tucson, where Beth had lived for several years.
There, he would ask, ‘Why am I here?’” and he would holler and cry. He progressed to where he couldn’t feed himself. One night he destroyed his room at Pacifica, and pulled the toilet out of the floor.
Eventually, Steve couldn’t walk or swallow. Like she had done with Beth, his mother rented a hospital bed and put it in her guest bedroom. Steve lived another week.
Immanuel Presbyterian Church was packed for Steve’s funeral.
“He faced each day as positively as he could and participated in life as fully as he could: driving until he could not, going to all sporting events until he could not, taking care of our dog until he could not, enjoying vacations until he could not, and finally living until he could not,” his wife told mourners. “What greater example of courage is there?”
When Steve died, the family asked for donations to early onset familial Alzheimer’s research at Banner Alzheimer’s Institute in Phoenix. Like they had done with Beth, they donated Steve’s brain for an Arizona-based Alzheimer’s research study funded by the National Institute of Aging.
When Steve died, his surviving sister, Cheryl, said she was relieved her brother was no longer suffering. Around that same time, Cheryl’s own Alzheimer’s symptoms began to progress.
Cheryl Minarik Baril would have made a great politician. She is an extrovert and a hugger. She adores children.
By the time she was six, Cheryl would greet strangers with a smile, say hello and stick out her hand for a handshake, just like her politically savvy grandfather, Frank Minarik. Now, her four adult kids use words like ‘vivacious’ and ‘charismatic’ to describe her.
Cheryl, born in 1960, is the eldest of three siblings. She is the only one still alive.
Her brother and sister — like their father, their grandmother and their great-grandmother — died of early-onset familial Alzheimer’s disease. Everyone in their gene pool has a 50-50 chance of inheriting the mutation that causes it, and and those with the mutation are virtually guaranteed to get the disease, probably in their 40s.
“I am lucky. I have lived a long time, longer than the others,” she said recently. “It is kind of scary.”
At 55, Cheryl has been living with Alzheimer’s for nearly nine years officially. Her family suspects the drugs she takes for rheumatoid arthritis may have a suppressive effect on her Alzheimer’s, although no scientific evidence backs that up.
Rheumatoid arthritis is an inflammatory disease., and one theory is that Alzheimer’s has an inflammatory component as well. It’s possible that powerful agents like methotrexate or Enbrel may have held back Cheryl’s Alzheimer’s, said Dr. Geoffrey L. Ahern, her neurologist at Banner-University Medical Center Tucson.
But it could be the other way around — Ahern said people with rheumatoid arthritis seem to have a lower incidence of Alzheimer’s. There may be something about rheumatoid arthritis that is inimical towards Alzheimer’s, he said.
‘SHE’D FOUND THE BOY SHE WAS GOING TO MARRY’
It is not apparent at first that Cheryl has Alzheimer’s disease. Only after she repeats things and asks the same questions, sometimes three or four times, does it become obvious that her short-term memory is severely impaired.
It’s common for people with Alzheimer’s to believe they are living in their long-term memories. They’ll think people who are long dead are still alive. That’s not Cheryl. Her long-term memories are intact, and so is her sense that they are memories and not her current life. She knows that both her siblings, Beth and Steve, have died from Alzheimer’s disease.
She remembers precise details from her youth, including the moment when she met her husband, Mark Baril. They were both students at Northern Arizona University. Mark was studying engineering and Cheryl, who had recently broken off an engagement, was studying sociology. They were at a Campus Crusade for Christ retreat. Mark, who is 6-foot-4, was playing guitar and Cheryl winked at him. More than once.
“I’d never had a girl do that before,” Mark said. “She decided she’d found the boy she was going to marry, unbeknownst to me.”
They were opposites. Mark is an introvert, logical and good with details.
Cheryl loves being around people, being on the move. Those differences took some getting used to for both of them.
THE WRONG GROCERIES
When they began dating, Mark was aware that Cheryl’s dad, Smitty, was sick, but no one understood yet the magnitude of disease that had gripped the Minarik family. Cheryl wanted children and Mark, who is one of 10 kids, wanted the same.
Krista was born in 1983, Kyle in 1986, Derek in 1989 and Kaila in 1992. Cheryl home-schooled them for nine years, helped lead a local association of homeschooling parents, and was later president of the Parent Association Committee at Desert Christian High School, which her kids attended.
Full of energy, she loved to clean and organize. In her spare time she cleaned houses to earn extra money.
When her oldest son Kyle was a high school freshman, Cheryl did a few things that, in retrospect, might have been early signs of Alzheimer’s. She sometimes forgot to pick up Kyle from school, and when the family would give her a list of what to buy at the grocery store, she’d come back without the groceries they’d requested — but with many items they didn’t need.
Concerned about her forgetfulness, Cheryl began taking Vitamin B12 and started writing everything she needed to do in a daily planner. But the memory lapses persisted.
In 2007, a little more than a year after her younger sister Beth was diagnosed with Alzheimer’s, Cheryl and Mark visited Dr. Ahern, the neurologist who had treated Beth. She was 46 years old.
A TRAUMATIC FAMILY MEETING
Though Cheryl was not officially diagnosed through a blood test for another year, after that first visit with Ahern they knew it was Alzheimer’s.
“We had a family meeting and it was traumatic,” Mark said.
The whole family went on a trip to Mission Bay in San Diego. They decided the best way to handle the diagnosis was to come together, and that’s what they’ve tried to do ever since. But there have been struggles.
“I took on a lot of responsibility in high school,” said Kaila, the youngest.
Watching Beth and Cheryl’s brother Steve decline, the Barils expected Cheryl to follow the same course. Steve was diagnosed two years after Sheryl, but his symptoms progressed quickly by comparison. He died six years after his diagnosis.
Cheryl’s illness stayed at bay for a long time. When her grandmother died in 2012, Cheryl’s mother Mary Kay wrote a eulogy and asked the minister to read it. Cheryl insisted that she would read it — and she did. Mark stood behind her but she didn’t need his help.
“She was completely articulate,” Kyle said. “It was flawless.”
But she is not the same mother her children grew up with.
“The chatty, bright person that was once my mother; the woman who could make a grouch smile with ease, has begun to fade,” Derek Baril, 26, wrote a few years ago in an essay about his mother, “My Inheritance.” It is written from Kaila’s point of view but speaks to what he’s experienced, too.
“It is as if her sharp tasting personality has been heavily watered down, and the process has taken a toll on her spirits as well as ours,” he wrote of Cheryl.
“Sometimes it is difficult to recall who she was before the disease, and indeed, the battle of loving her and hating the disease is constant. During those moments when my patience does wear thin, it is easy to be tricked into channeling my frustration at my mother.”
The changes in Cheryl are accelerating. Mark, who works from home, no longer leaves his wife alone. Her balance is off, as is her hand control. She makes jerking motions, caused by multiple neurons firing at once. Eating on her own is getting difficult.
Cheryl spends a lot of time with Mary Kay, with Mary Kay’s friends, and also with her own close friends — a group of women she’s known since the 1980s.
At her last appointment with neurologist Ahern, her performance on her annual Mini Mental State Exam dropped significantly for the first time. The test, among other things, asks the patient to count backwards, spell backwards, recall words, read, write and copy a drawing of intersecting pentagons.
Mary Kay brings Cheryl to her weekly game mornings at Immanuel Presbyterian Church. Cheryl doesn’t play, but goes from table to table socializing. She walks a lot and doesn’t like sitting for long. Her attention span for movies and television shows has waned.
She is an open book, always interested in talking about hope for treatments and cures for Alzheimer’s. She’ll ask Mark about her condition, whether it’s worse than before, and she accepts whatever he says. They still look at one another with the knowing recognition of romantic love.
“I have accepted that I am going to die,” she said. “But I want something in place for my kids and my grandbabies, my beautiful grandbabies.”
Mark recently told her that people with Alzheimer’s can get suspicious and hoard things they like.
“Sometimes you do that, like with candy, because you like candy,” he said.
Cheryl looked at him, nodded, and smiled. Then she laughed.
“I guess I would do that with candy,” she said.
Like her father, Cheryl doesn’t complain about being sick, has complete trust in her spouse, and is almost always smiling. She used to love to drive up Mount Lemmon when her kids were younger. One of the last times she drove a policeman pulled her over. She told him she had Alzheimer’s and asked him to call her mother.
She doesn’t drive anymore.
GET BUSY LIVING
Mark has a favorite line from the film, “The Shawshank Redemption:” “Get busy living or get busy dying.”
He says the family gets strength from their belief in God. They also rely on one another and on the support they receive from Calvary Chapel, which Mark and Cheryl attend, and from Mary Kay’s church.
“It’s really important we’re not going through this alone,” he said. “That’s what true love for one another is. It is a huge blessing to have a support system.”
It would be easy to get lost in the pain, to be consumed by anger. They choose not to. Go to any of their family gatherings and it’s nearly impossible not to hear laughter.
“You can feel sorry for yourself, but everyone has something. Our kids have friends who have already lost a mom or dad,” Mark said.
“We feel fortunate. We are not a sad family.”
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 all 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 UA, 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, Cheryl, 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 Daisy 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’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 previous generations in his family, 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.”