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One Family's Search to Explain a Fatal Neurological Disorder

With their help, researchers are advancing the 70-year effort to understand—and treat—hereditary ataxia.

Nissa Mollema, Harry Orr

2013-11MollemaF1.jpgClick to Enlarge ImageTen-year-old Henry Schut noticed that his father was having increasing difficulties with his daily chores on their farm in rural Minnesota in the early 1900s. His father grew highly agitated by his display of clumsiness as he attempted to hook up the horses for plowing. Henry soon learned why his father was so distressed. People were whispering about a mysterious disorder that plagued his family: About half of the children born into it developed symptoms of the disease in adulthood. Affected individuals first experienced walking difficulties, then hand incoordination, then slurred speech, and finally, labored breathing. The disorder was lethal within around 10 years of the onset of symptoms.

True to this distressing history, Henry's father's condition quickly progressed until he was extremely debilitated. Henry, along with his three younger brothers and one sister, was running all of the farm operations before their father passed away in 1924 at the age of 46. Several of Henry's uncles also passed away within the next few years because of the disease. Henry and many of his cousins were suddenly growing up in single-parent households. As life moved on after the family tragedies, Henry could not stop thinking about his father's condition. His eight aunts and uncles had many children, and he knew his siblings and cousins could eventually become ill with the disorder. He wondered what it was and who might be affected by it. He wondered if there was a cure; he wanted to prevent such a tragedy from happening again within the family. If he married and began a family of his own, he was concerned that he could pass the illness to his children, but there was no way for him to know.

Years after Henry's father and uncles had passed away, Henry's fears began to be realized: One of his close cousins, Bert, was showing early signs of the disease at age 20. Consultations with their local medical doctors proved extremely unhelpful in deciphering the disorder. In Henry's small town, rumors were spreading about the possibility that the family illness was contagious. At Henry's encouragement, Bert made the trip from western Minnesota to the university hospital in Minneapolis. The family hoped that medical specialists could give them an accurate diagnosis and possibly provide a treatment.

During this trip in about 1930, the doctors diagnosed Bert with ataxia. This diagnosis unified under one umbrella those affected by similar symptoms, but they still did not know what caused the disease, how to identify those who would be diagnosed later in life, or how to cure it.

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