The author as a child with her father in 1981, before he was diagnosed with Alzheimer's.
Editor's Note: A team of researchers in Italy recently used artificial intelligence and machine learning to diagnose Alzheimer's disease on a brain scan an entire decade before symptoms show up in the patient. While some people argue that early detection is critical, others believe the knowledge would do more harm than good. LeapsMag invited contributors with opposite opinions to share their perspectives.
Alzheimer's doesn't run in my family. When my father was diagnosed at the age of 58, we looked at his familial history. Both his parents lived into their late 80's. All of their surviving siblings were similarly long-lived and none had had Alzheimer's or any related dementias. My dad had spent 20 years working for the United Nations in the 60's and 70's in Africa. He was convinced that the Alzheimer's had come from his time spent in dodgy mines where he was exposed without the proper protections to all kinds of chemical processes.
Maybe that was true. Maybe it wasn't. The theory that metals, particularly aluminum, is an environmental factor leading to Alzheimer's has been around for a while. It's mostly been debunked, but clearly something is causing this epidemic as the vast majority of the cases in the world today are age-related. But no one knows what the trigger is, nor are we close to knowing.
If my father had had the Alzheimer's gene, I would go get myself checked for it. If some new MRI were commercially available to scan my brain and let me know if I was developing Alzheimer's, I would also take that test. There are four reasons why.
First, studies have shown that lifestyle has a major impact on the disease. I already run three miles a day. I eat relatively healthily. But like anyone, I don't live strictly on boiled chicken and broccoli. And I definitely enjoy a glass of wine or two. If I knew I had a propensity for the disease, or was developing it, I would be more diligent. I would eat my broccoli and cut out my wine. Life would be less fun, but I'd get more life and that's what's important.
The last picture taken of the author with her father before his death, in 2015.
Secondly, I would also have time to create an end-of-life plan the way my father did not. He told me repeatedly early on in his diagnosis that he did not want to live when he no longer knew me, when he became a burden, when he couldn't feed or bathe himself. I did my best in his final years to help him die quicker: I know that was what he wanted. But, given U.S. laws, all that meant was taking him off his heart and stroke medications and letting him eat anything he wanted, no matter how unhealthy. Knowing what's to come, having seen him go through it, I might consider moving to Belgium, which has begun to allow assisted suicide of those living with Alzheimer's and dementia if they can clearly state their intentions early on in the disease when they still have clarity of mind.
Next, I could help. Right now, there are dozens of Alzheimer's and dementia studies in the works. They are short thousands of willing test subjects. One of the top barriers to learning what's triggering the disease, and finding a cure, is populating these studies. So, knowing would make me a stronger candidate and would potentially help others down the road.
Finally, it would change my priorities. My father died the longest death possible: he succumbed last year more than 15 years after his diagnosis. My mother died the quickest possible way: she had a stress-related brain aneurysm 10 years after my father's diagnosis. Caring for him was too much for her and aneurysms ran in her family; her mother died of one as well. I already get a scan once every five years to see if I'm developing a brain aneurysm. If I am, odds are only 66% that they can operate on it—some aneurysms develop much too deep in the brain to operate, like my mother's.
Would she have wanted to know? Even though the aneurysm in her case was inoperable? I'm not sure. But I imagine if she had known, she would've lived her final years differently. She might have taken that trip to Alaska that she debated but thought was too expensive. She might have gotten organized earlier to make out a will so I wasn't left with chaos in the wake of her death; we'd planned for my father's death, knowing he was ill, but not my mother's. And she might have finally gotten around to dictating her story to me, as she'd always promised me she would when she found the time.
Telling my father's story at the end of his life helped his care.
With my startup MemoryWell, I spend my life now collecting senior stories before they are lost, in part because telling my father's story at the end of his life helped his care. But it's also in part for the story I lost with my mother.
If I knew that my time was limited, I'd not worry so much about saving for retirement. I'd make progress on my bucket list: hike Machu Picchu, scuba dive the Maldives, or raft the Grand Canyon. I'd tell my loved ones as much as I can in my time remaining how much they mean to me. And I would spend more time writing my own story to pass it down—finally finishing the book I've been working on. Maybe it's the writer in me, or maybe it's that I don't have kids of my own yet to carry on a legacy, but I'd want my story to be known, to have others learn from my experiences. And that's the biggest gift knowing would give me.
Editor's Note: Consider the other side of the argument here.
She figured the pain would go away. But instead, it intensified that night. Kamil's husband drove her to the Cedars-Sinai hospital, where she was admitted to the coronary care unit. It turned out she wasn't having a heart attack after all. Instead, she was diagnosed with a much less common but nonetheless dangerous heart condition called takotsubo syndrome, or broken heart syndrome.
A heart attack happens when blood flow to the heart is obstructed—such as when an artery is blocked—causing heart muscle tissue to die. In takotsubo syndrome, the blood flow isn't blocked, but the heart doesn't pump it properly. The heart changes its shape and starts to resemble a Japanese fishing device called tako-tsubo, a clay pot with a wider body and narrower mouth, used to catch octopus.
"The heart muscle is stunned and doesn't function properly anywhere from three days to three weeks," explains Noel Bairey Merz, the cardiologist at Cedar Sinai who Kamil went to see after she was discharged.
"The heart muscle is stunned and doesn't function properly anywhere from three days to three weeks."
But even though the heart isn't permanently damaged, mortality rates due to takotsubo syndrome are comparable to those of a heart attack, Merz notes—about 4-5% of patients die from the attack, and 20% within the next five years. "It's as bad as a heart attack," Merz says—only it's much less known, even to doctors. The condition affects only about 1% of people, and there are around 15,000 new cases annually. It's diagnosed using a cardiac ventriculogram, an imaging test that allows doctors to see how the heart pumps blood.
Scientists don't fully understand what causes Takotsubo syndrome, but it usually occurs after extreme emotional or physical stress. Doctors think it's triggered by a so-called catecholamine storm, a phenomenon in which the body releases too much catecholamines—hormones involved in the fight-or-flight response. Evolutionarily, when early humans lived in savannas or forests and had to either fight off predators or flee from them, these hormones gave our ancestors the needed strength and stamina to take either action. Released by nerve endings and by the adrenal glands that sit on top of the kidneys, these hormones still flood our bodies in moments of stress, but an overabundance of them could sometimes be damaging.
Elaine Kamil
A recent study by scientists at Harvard Medical School linked increased risk of takotsubo to higher activity in the amygdala, a brain region responsible for emotions that's involved in responses to stress. The scientists believe that chronic stress makes people more susceptible to the syndrome. Notably, one small study suggested that the number of Takotsubo cases increased during the COVID-19 pandemic.
There are no specific drugs to treat takotsubo, so doctors rely on supportive therapies, which include medications typically used for high blood pressure and heart failure. In most cases, the heart returns to its normal shape within a few weeks. "It's a spontaneous recovery—the catecholamine storm is resolved, the injury trigger is removed and the heart heals itself because our bodies have an amazing healing capacity," Merz says. It also helps that tissues remain intact. 'The heart cells don't die, they just aren't functioning properly for some time."
That's the good news. The bad news is that takotsubo is likely to strike again—in 5-20% of patients the condition comes back, sometimes more severe than before.
That's exactly what happened to Kamil. After getting her diagnosis in 2013, she realized that she actually had a previous takotsubo episode. In 2010, she experienced similar symptoms after her son died. "The night after he died, I was having severe chest pain at night, but I was too overwhelmed with grief to do anything about it," she recalls. After a while, the pain subsided and didn't return until three years later.
For weeks after her second attack, she felt exhausted, listless and anxious. "You lose confidence in your body," she says. "You have these little twinges on your chest, or if you start having arrhythmia, and you wonder if this is another episode coming up. It's really unnerving because you don't know how to read these cues." And that's very typical, Merz says. Even when the heart muscle appears to recover, patients don't return to normal right away. They have shortens of breath, they can't exercise, and they stay anxious and worried for a while.
Women over the age of 50 are diagnosed with takotsubo more often than other demographics. However, it happens in men too, although it typically strikes after physical stress, such as a triathlon or an exhausting day of cycling. Young people can also get takotsubo. Older patients are hospitalized more often, but younger people tend to have more severe complications. It could be because an older person may go for a jog while younger one may run a marathon, which would take a stronger toll on the body of a person who's predisposed to the condition.
Notably, the emotional stressors don't always have to be negative—the heart muscle can get out of shape from good emotions, too. "There have been case reports of takotsubo at weddings," Merz says. Moreover, one out of three or four takotsubo patients experience no apparent stress, she adds. "So it could be that it's not so much the catecholamine storm itself, but the body's reaction to it—the physiological reaction deeply embedded into out physiology," she explains.
Merz and her team are working to understand what makes people predisposed to takotsubo. They think a person's genetics play a role, but they haven't yet pinpointed genes that seem to be responsible. Genes code for proteins, which affect how the body metabolizes various compounds, which, in turn, affect the body's response to stress. Pinning down the protein involved in takotsubo susceptibility would allow doctors to develop screening tests and identify those prone to severe repeating attacks. It will also help develop medications that can either prevent it or treat it better than just waiting for the body to heal itself.
Researchers at the Imperial College London recently found that elevated levels of certain types of microRNAs—molecules involved in protein production—increase the chances of developing takotsubo.
In one study, researchers tried treating takotsubo in mice with a drug called suberanilohydroxamic acid, or SAHA, typically used for cancer treatment. The drug improved cardiac health and reversed the broken heart in rodents. It remains to be seen if the drug would have a similar effect on humans. But identifying a drug that shows promise is progress, Merz says. "I'm glad that there's research in this area."