20 January 2010. Gary Reiswig has variously been a young farmer, preacher, Ph.D., city planner, innkeeper, real estate agent, and author. He will always be a member of the “Volga Germans.” Through their research participation, this extended family made possible the identification of presenilin 2 on chromosome 1 (Levy-Lahad et al., 1995; Rogaev et al., 1995; Levy-Lahad et al., 1995) as the third gene known to cause autosomal-dominant Alzheimer disease, and the term Volga Germans became a fixture in AD genetics. Reiswig tells a harrowing tale, interweaving chronological chapters of his family’s and personal life story with snapshots of how the field of U.S. Alzheimer’s science evolved in those same years. This book offers something for everyone among the diverse Alzforum audience of researchers and related professionals, caregivers, and early-stage patients themselves. Scientists will find a compassionate inside story of what goes on in families stricken with eFAD, and the story features some of their familiar colleagues, including Thomas Bird, Gerry Schellenberg, Rudy Tanzi, and Bill Klunk. To families and AD activists, the book validates their own experience. It offers an account of what they have achieved to date in the way of bringing their issue before Congress and to the national media. These readers may recognize Chuck Jackson (statement to Congress), a cousin of Reiswig’s who lives with AD and works to raise public awareness.
The book creates moments of dread when Reiswig realizes that AD is beginning to claim members of the next, younger generation. Some of these moments echo past tragedies. For example, while driving across the wide open prairie of the Oklahoma panhandle, Reiswig’s grandfather, a farmer, overlooked an oncoming train. The train killed his wife, a mother of 14 children. Reiswig attributed this accident to a mental lapse during his grandfather’s early-stage AD. Four decades later, Reiswig asks his father to drive across several states to help his own young family move house. His father gets utterly lost, returning home to the family farm days late and plunging Reiswig into guilt over having denied his father’s condition. And three decades later still, after Reiswig’s siblings and cousins have been decimated by AD, his nephew, who has taken over the family farm, causes a car accident amid subtle symptoms of forgetting and confusion. This nephew is about to become a young grandfather, extending a line of life at risk for early-onset AD.
This family is hit hard. Of Reiswig’s 13 aunts and uncles, only three escaped the mutation. His brother and sister both died young from AD. Going back in history, Reiswig cites speculation by Tom Bird of the University of Washington, Seattle, that Alois Alzheimer’s famous patient Auguste Deter herself might have been a distant relative of the Reiswigs, as his ancestors emigrated to Russia from a region near Frankfurt, Germany, where Deter lived.
The author touches on themes that frequently come up in conversation with families living with eFAD. While the disease prompts some relatives to pull close, its taboos and the burden it imposes also tear families apart. Reiswig notes how he left home as early as he could, having watched his grandfather’s final years as a young child and seeing as a teenager how his own dad was starting down the same road. Others fled, causing a tight family that had settled in the rural heartland to scatter to both U.S. coasts and Australia, as if trying to outrun a fate that was sealed at conception. Reiswig also describes vivid vignettes of how early symptoms—loss of skills, lapses in judgment—manifest in able farmers and craftsmen who were increasingly stumped trying to repair their machinery, or made ill-advised purchases. The book’s title evokes a sign that relatives and dementia clinicians know well—that long, forlorn stare into the distance, that glance where the person behind the eyes is strangely missing. Incidentally, a new study out this week formally characterizes staring and mental lapses as an early sign of Alzheimer disease (Escandon et al., 2010).
Many readers will find food for thought in Reiswig’s description of how the family tried to move past denial toward a more proactive stance, and the attendant effort to become engaged in research. As is often the case, one relative—strong-willed aunt Esther May—drove this move toward openness in the Reiswig family. She drew the scorn of some relatives but managed to address Congress in testimony that contributed in the 1970s to the initiation of the country’s system of federally funded Alzheimer’s Disease Research Centers.
At several points in the book, Reiswig describes the Dominantly Inherited Alzheimer Network (DIAN) study, a much more recent research initiative that is currently enrolling participants. DIAN invites relatives of families with autosomal-dominant AD to join an international registry of longitudinal research to understand and treat the presymtomatic decade of AD, where pathology builds up in the brain. That is the time before people develop mental lapses and the thousand-mile stare. (For more information on DIAN, see ARF related news story; Dominantly Inherited Alzheimer Network (DIAN).) But also, as Reiswig recounts how for decades he lived in fear of developing AD himself, he mentions that he found out he had escaped the mutation only by seeing his family’s pedigree printed in Science magazine, which he, a Long Island innkeeper at the time, obtained after reading about the presenilin 2 discovery in The New York Times. His research participation apparently had not triggered information back that the family’s gene had been found and his family tree was about to be published with this pertinent information in it. This was in 1995. Since then, scientists have wrestled with the issue of information sharing with research participants, and a consensus is growing that ways must be found to communicate with research volunteers more fully.
Published by Nicholas Brealey and widely available online, this short book would have benefitted from rigorous editing to iron out some weaknesses in the scientific sections, but it remains well worth a read. For a special section of Alzforum dedicated to this form of Alzheimer disease and the families who live with it, see Early-Onset Familial AD.—Gabrielle Strobel.