Imagine a genetic disease with a terrifyingly predictable trajectory. If you are born into a family carrying this specific mutation, there is a fifty-fifty chance you will face a life course unlike almost any other medical condition. In your forties, your behavior begins to shift in subtle and unsettling ways. You might lose your natural inhibitions, utter harsh or inappropriate things to loved ones, and stop caring for your personal hygiene or the upkeep of your home. Crucially, you will not recognize that anything is wrong; while everyone around you notices the profound changes, you remain entirely unaware.
In time, you may begin isolating yourself from society, spending your days absorbed in television and chain-smoking. Eventually, the disease strips away your ability to speak, reducing you to a shell of your former self and leaving you entirely dependent on others for the most basic daily functions.
This devastating condition has a name: an inherited form of frontotemporal dementia, commonly known as FTD. Unlike Alzheimer’s disease, which typically targets cognition and memory first, this rare and aggressive illness strikes at the very core of a person’s personality.
Robert Kolker, the bestselling author of Hidden Valley Road, turns his investigative lens toward this harrowing reality in his new book, The Vanishing Family: Love, Fate, and the Quest to End Dementia. It serves as a heartbreaking journey into a poorly understood illness that slowly chips away at the human self, forcing families to watch their loved ones disappear while they are still physically present.
Recently, we sat down with Robert Kolker to discuss how he came to uncover this family’s story, why certain members ultimately chose not to learn their genetic fate, and what the unique nature of FTD reveals about the fundamental definition of the human self.
Uncovering a Rare Genetic Tragedy
When asked how he first crossed paths with the family featured in his latest book, Kolker reveals that they essentially found him. They had read Hidden Valley Road, his previous deep dive into a family heavily impacted by schizophrenia, and one member decided to reach out.
"They had read Hidden Valley Road, and one member of the family contacted me and said, ‘We have a rare disease, and we have nine children in our family,’" Kolker recalls.
At the time, Kolker had just spent several years intensely researching schizophrenia, a complex psychiatric condition that, as medical science understands it, has no single known cause—genetic or otherwise. In stark contrast, this family was telling him about an incurable, devastating disease where the culprit was entirely clear: a single genetic mutation, one specific gene gone awry.
His initial reaction was one of modern technological optimism. "And I said, ‘Aren’t we in the era of genetic editing? Couldn’t CRISPR or some other tool wipe out this problem by lunch tomorrow?’ And she said, ‘That’s what we would like to know,’" Kolker explains.
The uniqueness of the illness immediately captured his attention as a writer and observer of human nature. Unlike Alzheimer’s disease, which primarily affects cognition, memory, and the physical mapping of the world, FTD strikes personality first. People who were once warm, attentive, and deeply loving suddenly appear indifferent and detached from the individuals they care about most.
While the emotional toll on families is undeniably heartbreaking, it also forces a profound philosophical and scientific question: If all it takes to completely alter your personality, your temperament, and your relational bonds is a single gene that goes awry, what precisely is a personality? Why are we the specific people that we are?
Kolker found himself grappling with an even more personal and relatable line of inquiry: What is it about any of us that is genuinely real and lasting?
"I know, personally, I’m going to be a very different person at age 80 than I was at age 16," Kolker notes. "Tapi this kind of drastic change raises the question of what it is about us that makes us us to begin with."
That realization stopped him in his tracks. In short order, he discovered an entire community of researchers who are drawn to studying FTD for that exact reason. Scientists view FTD as a crucial intersection where psychiatry and neurobiology bump up against one another and overlap, serving as a biological key to understanding the deep roots of the human self.
The Heavy Burden of the Choice to Test
For outsiders looking in, the medical ethics of genetic testing might seem straightforward. For instance, someone dabbling in medical ethics might assume that knowing there is a fifty-fifty chance of developing a debilitating condition that causes total dependency would create an absolute obligation to get tested, prepare, and plan for the future. Yet, reality within these families is far more complicated, marked by profound psychological hurdles and avoidance.
When Kolker first began his research, he shared that conventional perspective. "When I was starting to work on this, I thought that if I were in this position, I would want all the facts as soon as possible. I thought, ‘I’m a reporter. I want to know all the information. I want to know what I’m dealing with,’" he says.
However, spending time with the family shifted his perspective entirely. What initially looked like simple psychological rationalization soon revealed itself to be an authentic, visceral reaction to the overwhelming trauma unfolding in their lives.
Kolker points to the story of one family member who spent her entire childhood watching her own mother slowly vanish before her eyes. By the time she was finally old enough to realize that a predictive test existed, her life had already moved forward; she was married with children who were entering their teenage years. For her, the threat of the disease represented three distinct nightmares happening simultaneously: the fear that she might carry the mutation, the terror that she might have passed it down to her children, and the anxiety of watching those children potentially face the same fate. Consequently, she suffered in silence for a decade, enduring a heavy psychological toll until she was finally emotionally ready to learn the truth.
Another striking case involved a woman who decided to go ahead and have children even though she knew she tested positive for the genetic mutation. She had attempted selective embryo transfer, but the procedure ultimately did not work. When she subsequently became pregnant naturally, she made a conscious choice about her outlook on life.
"When she got pregnant, she decided, ‘Who’s to say what anyone’s future holds?’" Kolker explains. "From our point of view, maybe she’s rationalizing, but she was choosing radical optimism. She was saying, ‘Who’s to say there won’t be a cure? Who is anyone to tell me that I’m unethical to have a child based on my genetic makeup? Why is that wrong?’"
The Tragedy of the Caretaker
Mental illness often falls into distinct categories. Some conditions are primarily distressing for the individual experiencing them, such as clinical depression, where the internal suffering is immense. Other conditions may not cause immediate personal distress to the individual, but they can be profoundly difficult for those around them, much like certain personality disorders.
While FTD is a neurological disease rather than a traditional psychiatric illness, it bears a closer resemblance to the latter category from an interpersonal standpoint. The people afflicted with FTD are rarely suffering overtly in the traditional sense; because of a neurological symptom known as anosognosia, they genuinely do not believe that they are sick.
Kolker notes that one of the most fascinating patterns he observed is that upon receiving a confirmed diagnosis, several members of the family initially discussed how they would want to end their lives if they felt themselves starting to change. Yet, as the disease progressed and individuals began to show symptoms, none of them ultimately opted to harm themselves.
"I think you dread it in advance, but once you have it, it’s really more of a tragedy for the people around you," Kolker observes.
This dynamic leads to a profound transformation in relationships, where loved ones become deeply enmeshed with a fundamentally changed individual, learning to sustain their love despite the cognitive and behavioral erosion. In The Vanishing Family, readers see a striking example of this through the story of a woman named Sue, who spent thirty years caring for her sister Christy. Despite the illness altering Christy’s personality to the point where she was unrecognizable from the sister of her youth, Sue continued to love her deeply and provide daily care.
Looking Toward Potential Treatments
Like many rare genetic conditions, frontotemporal dementia has historically suffered from a lack of widespread awareness and dedicated research funding. However, the landscape may be shifting.
When asked what it would truly take to move the needle from a treatment perspective, Kolker expresses cautious optimism about the current scientific climate. There is a growing wave of interest among researchers and major pharmaceutical companies focusing on the tau protein and its role in various forms of dementia, including Alzheimer’s disease.
Because FTD families and Alzheimer’s researchers are both grappling with the destructive accumulation and mechanics of the tau protein, there is real hope that the massive financial and scientific energy currently directed toward Alzheimer’s therapeutics could create a trickle-down effect, ultimately helping to unlock viable interventions for FTD and offering a renewed sense of hope for families living under the shadow of genetic fate.