Photo illustration: The Globe and Mail. Sources: Getty Images
Robert Kolker’s books include Hidden Valley Road and, most recently, The Vanishing Family: Love, Fate and the Quest to End Dementia, from which the following essay has been adapted.
In the last few years, you may have heard about a new test for Alzheimer’s disease – or rather, a test that might predict Alzheimer’s in your future. The test in question detects a preponderance of the beta-amyloid protein in the brain, a biomarker that does not exactly guarantee you’ll get Alzheimer’s, but gets us one step closer to that goal. The enthusiasm for this test and other diagnostic advancements reached a new crescendo this past summer when the academic journal Cell proclaimed “hope for a future” where Alzheimer’s “is not only treatable but also preventable.”
The future may not be now, exactly. But it’s near. More tests are coming, measuring more biomarkers for more illnesses we have yet to manifest – tests we can take starting in utero. We’re not far off from a time when we will all have to decide whether to look into a crystal ball and see our medical futures.
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During the last four years, I have gotten to know a family that is able to look into the crystal ball right now. All nine of this family’s siblings, when they were born, inherited a 50-per-cent chance of carrying genetic variety of frontotemporal dementia, or FTD. This condition is confoundedly rare; perhaps 60,000 Americans have it, though that estimate is complicated by how difficult it is to diagnose. Unlike more common brain disorders like Alzheimer’s disease, FTD emerges in the prime of one’s adult life – ages 45 to 55 – and relentlessly attacks the part of the brain responsible for planning, organizing, expressing language, understanding social cues and exercising judgment. There is no cure.
What happens with FTD is so unlike what’s commonly thought of as dementia that it’s quite often misdiagnosed as something else, like depression or schizophrenia. But ever since this family’s particular genetic mutation was identified several years ago, they’ve been able to take a test to see their futures. The question they all must ask – Do I want to know? – is something that sooner or later we all will ask ourselves.
None of us knows how our stories will end, or what shape we will be in when the time comes. Whether it’s a genetic cancer risk or a familial pattern of mental illness, we all wonder about what we would and wouldn’t want to know about our destinies. Here is a family of people who already know, or could know if they choose to. The news, bad or good, promises to change their lives.
To protect their privacy and encourage greater candour, the family has asked for their last name to be omitted. What I found, in getting to know them, is despite the news, no one is really spared. As in the cruellest of fairy tales, there is a price to be paid for what the crystal ball reveals.
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Barb had still been young, 32, when the family learned about the mutation. Even if she had it, she had at least a decade before she could anticipate changing. As long as Barb didn’t know if she had it, she would try to live as if she didn’t.
Of course, not knowing wasn’t the same as not having it. How could it be? Barb could never really stop dwelling on what it would be like if it started happening to her. For 10 years, before she finally went ahead and was tested, waking life was a continuous test of cognition. She grew exhausted, policing her thoughts and fending off the worst ones. “When I let myself feel this pain,” she wrote in her journal, “I feel a firehose, a flood, a tsunami of sadness.”
Some of her relatives made different choices. Barb’s niece Cynthia (not her real name), whose mother had the mutation, decided to be tested when she turned 30. When she learned she was positive, she tried to unlearn those results as much as she possibly could. She and her husband made arrangements for any long-term care she’ll need, but in the path of a punishing fate, the most radical choice of all might be optimism. “I love my child, I love my dog, I love my career – you know, I love my friends, I love my family,” she told me. “Am I going to focus on things that are bad?”
When Cynthia and her husband decided to start a family, they had a tool available for not passing on FTD: selective embryo transfer. Cynthia could have her embryos frozen, and doctors could test them and implant only the ones that did not have the mutation. More than a year of gruelling, unsuccessful procedures followed until she found she’d become pregnant naturally.
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This, she said, wasn’t planned – though given the difficulty they were having in conceiving, they weren’t inclined to be vigilant about birth control. Instead of fixating on what their child might inherit, Cynthia again chose optimism. Who was to say what other parents may be passing along to their children, genetic risks no one can test for? And more broadly, isn’t she allowed to want this for herself? Doesn’t everyone have the right to a family?
Many of her aunts, uncles, and cousins reacted differently to the genetic implications of having children. Cynthia’s cousin Ansel, whose mother has the mutation, tested positive himself when he was just 23. He took steps to make sure that the mutation would stop with him – getting a vasectomy so that he would no longer have to worry about what might happen if he met someone he wanted to be with forever. “I think that my genetics are not the most important or special part of me that I could pass on,” he said.
In his more indignant moments, the concept of passing this condition on to another person just because you don’t want to know is simply unbelievable to Ansel. But the vasectomy was just one drastic measure in response to his new-found knowledge. Early on, Ansel noticed himself freezing up whenever it came time to think about that future. “I stopped imagining being 55 and going to the beach with my family,” he said. “I stopped imagining growing old.” Ansel wouldn’t plan anything more than a year ahead of time. It scared him too much to try. It took time for him to integrate the knowledge and made some adjustments, living more in the present.
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Annika, another member of the next generation, grew up watching her mother slowly succumb to symptoms of the disease. When she was turning 28, she was about to be married and still didn’t know about her own genetic status. She was still frightened of learning the truth about herself, a feeling the entire family understood well.
The truth about Annika was information that would be useful for her fiancé, Julian, to know, too. His family had been pressing him to have Annika tested before the wedding. But Julian understood why Annika wasn’t inclined to learn yet – how, like Barb before her, she wanted to preserve the makings of a normal life. Julian did his best to stay supportive. His own family had its problems, he told her; if FTD was in their future, they’d face it together.
As the wedding approached, Annika reconnected with her cousin Ansel, who had been tested years earlier. She started to feel a little guilty for not knowing – for living in a state of uncertainty that he and others didn’t get to experience any more. She couldn’t quite explain it, but the idea of testing – once such a radioactive, repulsive thing in her mind – now somehow seemed to ground her. “I’m connecting with my mom, my family, and others who have experienced this,” she said. “I don’t feel as alone.”
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Almost a year after the wedding, Annika mailed in a swab from a DNA test kit to a lab. Several weeks later, she and Julian entered a Zoom together, sitting beside one another at home. The counsellor didn’t make them wait. Within seconds, she said that Annika was positive for the mutation.
Almost instantly, she and Julian were in tears. The counsellor was quiet while they processed the news. They looked at each other, not sure of what to do next, unaware of anything that might temper this news or soften the blow. They didn’t say much to one another afterward. They just kept crying for a while, until finally they decided not to keep what was happening to themselves.
On the phone, Annika’s aunt Barb blew past sorrow and dove straight into fury. “It’s not fair!” she shouted. This, Annika found comforting. Here was someone she loved, ready to lose control on her behalf – to howl at the moon when Annika felt too broken even to do that.
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When Barb thinks back now to her state of mind when she was Annika’s age, she marvels at her niece’s bravery. “I couldn’t even have a conversation about it,” she said. “She’s so young.” Seeing the future so clearly can alter the way we experience relationships and love. This family, sharing access to the same crystal ball, finds new ways to support and help one another all the time.
Annika was not yet 30. She wasn’t going to change that day or the next. But she couldn’t unsee the future now. From then on, every consideration would have a time horizon. “I know it’s so far out, but I just feel like I’m counting my days,” Annika told me recently. “Like, what do I have to do by this age, by this year, by this month? What am I doing right now?”
It’s a strange turn for her to be taking: After years of dwelling on fate, now everything was about time. One thing that seeing the future does, potentially, is prompt a greater appreciation for the present. More than ever for this family, every second counts. As it should, perhaps, for us all.