When Jaime Bortz was a teenager, she'd gently take hold of her dad's hand while they walked through the mall in Buffalo, New York. She'd guide him along to prevent him from getting lost, as if he were the child, she the parent.
Then her dad, Steve Bortz, went to live in a nursing home. Jaime, a high schooler at the time, was embarrassed to tell her friends where her dad lived. She knew she never wanted to end up in a place like that.
But time is making it harder for Jaime to live at home. She's 39 now. As the clock ticks on, the gaps in her brain widen, and she becomes more confused. Memories are rapidly slipping away, much as they did for her dad. She forgets how to dress herself, can't speak in full sentences, and cries a lot, perhaps because she's still aware enough to be frustrated by what's happening.
Jaime's half-brother Todd went through this decline a decade ago. A father to three young kids at the time, he started forgetting how to drive his own bus route, often getting lost with passengers on board. In a matter of a few years, memories of who he married, what he liked to eat, and even his own shy nature were erased. He died of sepsis at 43. A year later, Todd's brother, Aaron, died at 40, with many of the same memory issues.
Jaime, Todd, and Aaron all inherited a rare PSEN1 gene mutation from their father that guaranteed they'd develop Alzheimer's at a young age. They are members of an unlucky tribe, the 1% of people with dementia who have early-onset familial Alzheimer's.
"Even with the family history, no one believed that someone her age would have it," Bonnie Bortz, Jaime's mother and Steve's widow, told me when I visited her at home in Buffalo last year. By "no one" she meant friends, family, even some doctors.
Bonnie has been a default caretaker at every turn. As a young mom, she handled Steve's decline. Years later, she helped Todd's wife, Michelle, go through it. Now 64, she's the anchor of a bustling household, caring for Jaime and her 9-year-old daughter.
"I am feeling desperate," Bonnie said. "I try to stay optimistic and positive, and I just kind of put on a harder exterior — I have to do what I got to do to get everybody through."
Bonnie is foreshadowing the burden many families will soon experience. An article published in Nature Medicine in January suggests America is set to weather a cascade of dementia cases, a doubling of Alzheimer's patients by 2060. It predicts that by then, the country will gain 1 million new dementia patients each year.
Families like the Bortzes are rare and warrant attention. There are just 45,000 cases like theirs worldwide. This small circle of people can offer researchers a glimpse into how Alzheimer's develops. Because they develop the first signs at early ages, researchers can separate the disease itself from other issues common among older people, like heart disease or type 2 diabetes. Early-onset cases have helped usher in a new class of Alzheimer's drugs, which have started to become available in recent years. While these antibody treatments don't cure the disease, they can slow its progression, buying families a little more time.
Still, there is much to learn. Researchers don't understand what causes the disease. Ultimately, there probably isn't just one kind of Alzheimer's that can be fixed by one single prescription. Families like the Bortzes show how far researchers still have to go in understanding dementia and developing treatments.
"It's like cancer," Fred "Rusty" Gage, who researches dementia and neurodegenerative diseases at the Salk Institute, told Business Insider. "This is not a single disease. There are different forms of it, and they're not just genetic forms versus nongenetic."
A 50/50 shot at dementia in your 30s
Bonnie knew something was wrong when Jaime moved back home in her early 30s. She kept forgetting her keys and phone and repeated herself a lot.
"The repeating of stories — that was definitely something my husband did," Bonnie said. "And it was subtle, little things." Jaime lost the insurance job she'd had for over a decade. Finally, around the time of Jaime's 36th birthday, they agreed it was time to get Jaime tested.
The type of dementia that runs in the Bortz family is genetically preordained. Someone who inherits a genetic mutation from one of their parents will almost certainly develop dementia, progressively forgetting what they've learned over a lifetime. It generally starts with short-term memories, then expands to erase aspects of who they are and how they function. People with this early-onset genetic form of the disease suffer a much earlier and faster descent than people with "regular," meaning sporadic, Alzheimer's.
Gage says that to categorically separate nongenetic forms of Alzheimer's from the forms that families like the Bortzes have is naive. Each person's genetics shape their case. For example, roughly 60% of people who carry two copies of the APOE4 gene will develop Alzheimer's during their lifetime. (The actor Chris Hemsworth, who carries a copy of the gene from each of his parents, has been open about his "4-4" status.) Other folks, through some kind of genetic luck, can carry the same genes, and may even develop the amyloid plaques or tau tangles characteristic of Alzheimer's and yet never show signs of dementia. Of Steve's four children, only one did not develop his rare form of early dementia.
"There's dozens of genes that have been found to be associated with Alzheimer's disease," Gage said. Few of them single-handedly control a person's cognitive destiny. If most dementia diagnoses are colored in shades of gray, the Bortzes' cases are harshly black and white.
In 2023, as life at the Bortzes' house was getting more difficult, new Alzheimer's drugs were starting to become available. The blockbuster was Leqembi, a Japanese drug brought to market in the US, designed to clear out the clumps of protein, or amyloid plaques, that form between brain cells in people with dementia.
New drugs haven't been found to halt or prevent the disease, but data from one of Leqembi's clinical trials suggested it could slow progression down by about 27%. In practical terms, that means people might gain an extra four or five months of independence — of driving, perhaps, or cooking, shopping, dressing themselves, and remembering their families.
"The pessimist would look at the data as it stands and say: 'Well, we tried that. It obviously doesn't work very well, so maybe we should start looking at something else,'" Gage said.
Jaime was on early Medicare for her disability. Legally she was still allowed to drive, but her mom took her keys away after she failed a driving evaluation funded by the Alzheimer's Association. It was getting harder to remember daily minutia, like the fact that her daughter likes peanut butter toast now, or how to put a paper filter into a coffee maker.
Still, Bonnie decided not to put Jaime on antibody drugs. She knew that they presented a small risk of brain bleeds and that Jaime, because she's a woman and because of her genetics, would be at a higher risk of developing them.
"I don't want to cause more problems," Bonnie said. In 2023, Jaime was developing some muscle jerks, prompted by one of the other medications she was on. "I've never seen these medications help her in any way," Bonnie said. "Not with memory, not with anything."
After years of focusing on drugs that target amyloid plaques, scientists are starting to try new tactics. More than 100 new Alzheimer's drugs are in later-stage clinical trials. If those trials are successful, the drugs could become available to patients in the next couple of years. They include therapies designed to target neuronal tau tangles, which pulverize and kill brain cells from the inside, and others that go after the inflammation tied to Alzheimer's. Increasingly, doctors are wondering whether the anti-inflammatory effects of GLP-1 drugs such as Ozempic and Mounjaro may prove effective against dementia.
"I would hope that we'd get to a good point where we look at where you are in the disease and we can fine-tune a cocktail," said Lindsay Hohsfield, an Alzheimer's researcher and associate professor at the University of California, Irvine, who cofounded a nonprofit called Youngtimers to support families like the Bortzes.
Can you build a brain back?
Jaime's condition has progressed dramatically over the past year. When I visited her at home in snowy Buffalo in early 2024, it was harder to tell something was amiss. She could carry on a simple conversation, exchanging pleasantries with a new houseguest — but if you spent more than a few minutes with her, you might notice her start to repeat questions ("Where do you live again?") or variations of them. Sometimes, she'd nod and quickly backtrack, insisting she already knew.
Reminiscing about old memories, like her favorite '90s TV shows or her pink prom dress, was much easier than recalling newly acquired information.
I asked how her speech therapy was going, and she turned to her mom blankly. I can't know what was going on in her mind, but it seemed like she was scanning our faces for hints about how to answer and where the conversation should go next. Bonnie sensed the difference in her daughter, in the way a mother can.
Later, sitting with me in the privacy of her SUV, Bonnie pointed out Jaime's repetition. That, she told me, is what it's like everyday.
Bonnie's been there through it all, managing the appointments, fighting to get Medicare payments, and evaluating which drugs and treatments to put her daughter on and which to skip. Driving often gives her some of her few solo moments of the day. She relishes going to work, rare time by herself. Recently she hired Michelle, Todd's wife, as an aide — a familiar face who can come help take care of Jaime for about 10 hours a week.
Bonnie tries to keep thoughts of the future to a minimum. Jaime's asked her, many times, not to put her in a nursing home.
"I pray to God it doesn't get to that point, because I would hate to do that to my daughter," she said. "With that being said, I am older. I don't know. I just, I don't know."
Bonnie doesn't know how Jaime's condition will develop and what kind of support she'll require. Jaime has told Bonnie that her biggest fears are the nursing home and death.
"The difficult thing about Alzheimer's, all brain diseases, if you truly wanted to reverse, you would also not only have to clear out disease, you'd actually have to build the brain back," said Dr. Nathaniel Chin, the medical director at the Wisconsin Alzheimer's Disease Research Center. "This is not an infection where if you identify it, you kill it, you go back to being yourself. I mean, the disease has destroyed parts of your brain."
Hoping for a cure
Bonnie understands there's not much you can do to stop this disease. That doesn't stop her from being a mom — from trying to do something, anything, to help her daughter.
A man sometimes comes to her house for 10-minute sessions of cold laser therapy, designed to nourish and energize Jaime's cells.
"They're not working," Bonnie tells me, laughing out loud, probably realizing how ridiculous it sounds. Still, there's a quiet optimism. "Part of me is like, well, maybe we should keep trying, you know? As a mom."
Recently Bonnie joined an online support group for families with early-onset familial Alzheimer's. There she got sucked into another tantalizing promise that a product could somehow help Jaime. She ended up sending about $600 to a man offering specialty herbal supplements before she realized he'd never send her any medicine.
"You get yourself suckered in because you want to believe that there's something out there," Bonnie said. She's also ordered expensive memory supplements advertised on TV.
In a moment of desperation, while Todd was in decline in the early 2010s, Michelle sent a letter to Dr. Phil, begging for his help. Maybe this wasn't really Alzheimer's, she wrote. Maybe, hopefully, it was some other rare, undiagnosed condition that could be cured once it could be properly identified. "It sounds stupid, but I see that he does all these different testings," she said. Deep down, she knew she wouldn't hear back, and knew he wouldn't be able to help. Still, she's contacted Dr. Phil a few times since then, including once recently, worrying about what's in store for the next generation of the family.
The throughline is a flicker of hope. Isn't there something that can help?
Before Jaime's diagnosis, Bonnie was considering moving out of the house where she'd raised her kids and into a smaller home, enjoying a new empty nest. Now her old nest is full of boisterous daily activity again.
Jaime is the last of her generation going through this rapid, fatal decline, but her young daughter is sometimes angry and embarrassed about her mom's condition. She lashes out — a kid grappling with losing pieces of her mother, one day at a time.
Michelle's 20-year-old daughter, Emma, wonders whether she should get tested before deciding whether she wants to have her own children. New genetic tests, in conjunction with IVF, are allowing some people with familial Alzheimer's to choose embryos to implant that don't carry the genetic mutation.
"I want to know, but then I don't want to know — I don't want to be worried about it all the time," Emma said. "It just should be taken out of the gene pool, probably. I don't want to do that to my kids."
