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Extraordinary Man, Extraordinary Mission
It has been said that a truly extraordinary man is a man who thinks himself completely ordinary. Hugo W. Moser was such a man. A scientist, mentor, advocate, father, husband, friend, he is surrounded by an acclaim that bears the weight of work well done, personal passion, and a nobility of purpose. Moser achieved great things, working not for fame or personal gain; rather, he was a man on a crusade, fighting to ease the pain of his patients and bringing hope to families and individuals living in despair. The adversaries he faced were far from symbolic: skeptics, critics, lack of funding, even the brevity of his own life. His life and work left a legacy of hope that others carry on, and those close to him build his memory out of words like kindness, compassion, talent, curiosity, dedication, sincerity, caring, extraordinary. "Hugo Moser did more than work in a lab," they would say. "He changed the lives of everyone he touched."
Dr. Moser's dedication and enthusiasm were prevalent throughout his career, and though no one would have criticized him had he decided to cut back on his workload after retiring as Kennedy Krieger Institute president in 1988, he would hear nothing of it.
Dr. Moser's partner in science and life was most certainly his wife, Ann Moser, a research scientist in neurology at Kennedy Krieger. She spoke of his steadfast commitment to his work, the drive to get things done, no matter what it took. She recalled the long hours and struggles, his refusal to take a break and retire. "He always said he would retire in a box," she says, smiling wistfully.
His decision to continue working, researching, and fighting some of mankind's most daunting conditions long after many would have chosen to retire led to several of the defining moments of his career, including a series of accomplishments that have transformed the lives of thousands of children and their families. And though Dr. Moser passed away earlier this year at 82, due to complications of vascular surgery, his work is far from over: following in his footsteps, a dedicated team, including his wife Ann, continues to drive it forward (see article on "Halting a Genetic Threat").
Dr. Moser's research in the latter phase of his career focused on peroxisomal disorders that lead to intellectual and physical disabilities. The most common of these is adrenoleukodystrophy (ALD), a condition affecting boys that first appears between the ages of four and 10. ALD is characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain. As dramatized in the 1992 movie Lorenzo's Oil, a boy who had been otherwise developing normally suddenly displays symptoms similar to those of attention deficit disorder, then suffers a traumatic decline, sustaining visual loss, learning disabilities, seizures, dysphasia, deafness, disturbances of gait and coordination, and progressive dementia. The most tragic news for families is that these symptoms are irreversible and the disorder is often considered fatal. Now, because of the work that Dr. Moser did, a chance for early diagnosis and a preventative treatment are giving those families hope.
Dr. Moser initially established methods of early diagnosis for ALD and related disorders and later led the study of the efficacy of using Lorenzo's Oil to prevent the onset of the ALD, a groundbreaking step forward in the treatment of the disease.
The oil, a compound of olive and rapeseed oils, was invented by Augusto and the late Michaela Odone, who began researching ALD and advocating for improved research after their five-year- old son, Lorenzo, was diagnosed with the disease in 1984. The oil is named after the Odones' son, who was the 1992 film's namesake as well. Lorenzo's Oil, when combined with a special diet, reduces the amount of abnormal fatty acids in the body that cause myelin degeneration. While it cannot repair damage already done in boys who are symptomatic, it can prevent the disease from progressing into a degenerative state in presymptomatic boys. Though Lorenzo already showed symptoms before he began taking the oil, today, at age 28, he still takes the oil everyday, and while he cannot see or speak, he can still hear and he has lived more than 15 years longer than his doctors first expected.
While other doctors and scientists questioned the Odones' untested approach, Dr. Moser was willing to listen. Perhaps in the Odones' story he heard the echoes of his own. He was familiar with their plight: a daughter from his first marriage is severely dyslexic; she did not speak until she was five. When she was first diagnosed, at a time when dyslexia was not widely known or even defined, physicians initially told Moser his daughter was mentally retarded.
"He refused to accept (the diagnosis)," says Ann. Instead, he pushed for alternatives and new treatment methods. Today his daughter has a master's degree in special education and teaches in the public school system in Austin, Texas.
Understanding the Odones' desperation for answers, he embarked on a seven-year study of 89 boys ages seven and younger who each tested positive for a gene abnormality that identifies ALD. Though early trials had not shown the oil to treat those boys who had developed symptoms, and the medical world abandoned hope that the oil could help, Dr. Moser didn't give up.
At the end of the study, which was published in the Archives of Neurology in July 2005, nearly three-quarters of the presymptomatic boys treated with the oil showed no signs of disease progression a powerful support for the value of the treatment.
"Dr. Moser's published research was so important in supporting the value of Lorenzo's Oil as a preventative treatment," says Augusto Odone, founder of the Myelin Project, a multinational organization of families affected by ALD, multiple sclerosis, and related disorders that is committed to accelerating research on myelin repair.
"Hugo had no hang-ups," Odone adds. "In a scientific world that is tremendously territorial about areas of expertise' and authorship,' he [recognized] me in various publications, including the last and most important article [Archives of Neurology, Nov. 2005] on the results of the Lorenzo's Oil study.? Since [his article], we have seen much greater interest and requests for the oil from families."
In an interview for the American Neurology Association's oral history project, Dr. Moser said, despite the success of his study, "I consider it an interim measure. In the long run you've got to do better."
"We worked together for 13 1⁄2 years, since I first came to the Institute," says Dr. Gerald Raymond, a fellow neurologist who collaborated with Dr. Moser on many of his ALD studies. "[He] loved science and he was relentless in setting a goal and pursuing it. Together, we were constantly looking for other options for patients who are symptomatic."
A Source of Hope
Dr. Moser's groundbreaking work made his laboratory a beacon for families facing their children's baffling conditions. As his work became better known, increasing numbers of patients with peroxisomal disorders found their way to his research center, and families and doctors around the world sent samples to be tested in his famous lab.
"We began trying to sort out all these different leukodystrophies," explains Sakkubai Naidu, a research scientist who worked with Dr. Moser for 22 years.
"Over time, we developed descriptions of quite a few unique entities. Understanding the genetic basis of these disorders helps to test for them effectively, determine the biological basis to plan treatment, and provide prenatal diagnosis. Our classification efforts helped improve this process."
Dr. Moser knew that with enough hard work and innovative thinking, there could be a solution.
In a 1983 article on the progress of his research on ALD, he wrote, "We know that somewhere there is an answer to this and other disorders there is hope. We want to see that each child gets the best chance for a healthy, happy, productive life. We want every child's parents to be able to say, as one patient's parent did, I have a lot of hope now.'"
Dr. Moser's work represents an invaluable contribution to the understanding of devastating disorders like ALD. Over the course of his career, his research improved the ability of doctors to diagnose and understand the disorder, allowing families to come to grips with the heartbreaking realities of their children's conditions. In pioneering treatment and prevention methods, he gave those same families hope that their children could go on to live longer and healthier lives than their counterparts from 10 or 20 years ago.
But it's possible that Dr. Moser's most significant and most lasting contribution to the Institute and the children and families in his care stemmed from something deeper than his expertise as a physician, or his skills and ingenuity as a researcher. It originated, instead, in who he was as a human being, and continues to influence all who knew and worked with him.
"He educated people about the need to help the mentally handicapped and disabled," Ann says. "He was very ecumenical in looking out for people who really needed help."
His commitment to those in need of help was apparent in every thing he did. Toward the end of his life, Dr. Moser was working on a grant to secure much-needed funding for his continued research. He even delayed an essential surgery, Ann says, so that he could help write, review, and sign the competitive renewal grant application to ensure that his team would be able to continue their important work.
"Hugo was one of the world's best, not only as a physician, academician, and researcher, but also as one of the kindest, most emphatic, and warmest human beings I have ever met and will ever know," states Dr. Christiane Theda, an assistant professor in the Johns Hopkins University School of Medicine Department of Pediatrics.
Naidu echoes Dr. Theda's assessment, saying "[Dr. Moser] gave a caring ear to everyone who entered his office, however busy he was. His advice was sound and sincere, ranging from scholarly to philosophical, and never demeaning. He never indulged in petty thought or activity, but always asked how he could help someone."
"He would talk so kindly to his patients and their families," she continues, "making sure they had access to better seating arrangements, understood the possible benefits of a gastrostomy tube, or whatever day-to-day details would make life easier. So many patients have said what a relief this was. He was the definition of a humane physician, and his approach is one I have learned and practice today."
His patients and their families also acknowledge that kindness and dedication.
"When our sons were diagnosed with ALD," Mark Liley, of England, recounts, "Hugo rose to the occasion, explaining in simple terms what was happening with the science and what we could expect."
The Milioni family tells a similar story about their son Cameron's diagnosis with ALD and his treatment at Kennedy Krieger.
"Cameron had all the benefits of the best team of doctors in the world, early intervention, cutting-edge technology, and research," the family wrote. "Dr. Moser and the whole team of doctors and nurses know Cameron by name and they always had time to talk and respond to fear and questions along the way. Cameron hopes to become a doctor or study in the medical field some day. It is only because of a caring group of talented doctors like Dr. Moser that he has any future at all."