An Appalachian odyssey: Hunting for ALS genes along a sprawling family tree

On a 300-mile "blood and barbecue" road trip, ALS researchers pursue the often unheralded gene-finding legwork behind treatments for genetic diseases.

LEXINGTON, Ky. — The man had come for a third opinion. Other doctors had told him he had amyotrophic lateral sclerosis, or ALS, a neuromuscular disease that causes progressive paralysis, but he didn’t believe them.

In his hometown of Ewing, Va. — just east of the state’s mountainous meeting point with Kentucky and Tennessee — a handful of his relations had had the same thing, and they knew it as cancer of the throat. They lost the ability to chew, swallow, and speak, they lost weight, and then they died.

Dr. Edward Kasarskis admitted him to the University of Kentucky’s clinic for testing that same day in 1984. What had seemed clear when the patient first arrived only became clearer: No matter what they called it in Ewing, this was ALS. The man went home, and within a few months he, too, was dead.

But Ewing stuck in the neurologist’s mind. He had a fondness for names and places — he can talk about tree species and Civil War battlefields with equal ease — and in 1984 his oldest son was an avid 12-year-old hiker. From Lexington, Ewing was only a few hours away, and for a small fee, some residents would keep your car on their lawn while you were out among the yellow poplars and buckeyes of Cumberland Gap.

So nine years later, when another ALS patient mentioned she was born in Ewing, the town name wasn’t just familiar: To Dr. K, as he’s often called, it was the parking place where family stories began, and it flicked on some narrative instinct within him. The woman had been married four times, acquired some new names, and moved around — but when the neurologist glanced at her intake form, he saw that her maiden name was the same as that man’s from 1984.

“I thought, ‘Holy smokes, this is like the same family kind of deal,’” he said. Then, two years later, her 33-year-old son showed up, also weakened by ALS.

At the time, the hunt for ALS-linked genes was just beginning, and Dr. K wondered what he would find in Ewing’s DNA. Unwittingly, he was about to embark on a search, one of many in medicine staked on the possibility of new treatments for genetic diseases. It would extend over thousands of cumulative miles and more than 20 years.

Before she died, the mother had whispered a clue about how Dr. K could trace her clan’s neurodegenerative inheritance. “There was some little old lady somewhere that knew the whole family history, and if I could talk with her, she would just let me know everything about it,” Dr. K said. “And this woman just refused to talk to me … like flat out, no way, Jose, was it ever going to happen.”

He tried to piece it together himself, making calls, jotting names and dates on bits of paper. Families were tight-lipped, though, and he didn’t have much luck. He turned to other things. It was only a decade later that he mentioned his desultory attempts at genealogy to a University of Kentucky research coordinator named Debby Taylor, who was just migrating from stroke studies into ALS. She’d been mapping her own family history on, and she offered to try with software what hadn’t worked by hand. Within a day, she had 12 pages of names.

The Scroll, as that document is now known, resides in a former storage closet in the basement of the Kentucky Clinic. This cupboard has been Taylor’s office for years, and on a swampy evening in June, she sat at her desk,

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