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An encounter with a four-year-old Amish boy in the summer of 1988 set Holmes Morton on the path to his life’s work.
Dr. Morton, then a trainee in metabolic diseases at Children’s Hospital of Philadelphia, tested a urine sample from the boy, who had been assumed to have cerebral palsy. The urine sample established a diagnosis of glutaric acidemia type 1 (GA-1), a reportedly rare, disabling, and often fatal genetic disease.
In a few months he identified 16 other children with GA1 within the Amish population of Lancaster County. He was also aware of the need for local medical care for patients with maple syrup urine disease (MSUD) who lived within a nearby Mennonite community. Risk for specific recessive genetic diseases is increased in Amish and Mennonite populations because of their descent from small groups of founder-settlers and the high carrier rate for selected recessive disorders.
Dr. Morton and his wife, Caroline, decided to open a clinic to provide children with genetic diseases in the Amish and Mennonite communities of southeastern Pennsylvania with medical care that their rural communities lacked. Since its founding in 1990, the independent non-profit Clinic for Special Children in Strasburg, PA – “this little clinic in an Amish corn field,” as Dr. Morton describes it – has evolved into a unique combination of a pediatric primary care clinic and a place for cutting-edge diagnosis and research for rare genetic conditions.
The Clinic for Special Children now has evaluated more than 2,600 patients from 34 U.S. states and 14 countries who have more than 150 distinctive genetic conditions. Its on-site diagnostic laboratory identifies between five and 15 new genetic diseases every year.
The need of a patient with a rare liver disease for a liver transplant paved the way to a collaborative relationship between the clinic and Children’s Hospital of Pittsburgh of UPMC that has now been in place for more than 20 years. Children’s offers unique expertise in pediatric liver transplantation, having performed more pediatric liver transplants than any other center in the United States.
In 2004, in collaboration with the Clinic for Special Children, Children’s became the world’s first hospital to establish an elective liver transplantation protocol for patients with MSUD. Since then, more than 55 children with MSUD have received liver transplants at Children’s.
“The liver transplantation program at Children’s Hospital of Pittsburgh has become a destination for the families of children with MSUD because they realize that the disease can be cured here,” says Dr. Morton.
The collaboration with Children’s, he adds, provides Clinic for Special Children patients with access to specialist medical expertise and therapies that are beyond the clinic’s capacity. The clinic, in turn, contributes the expertise it has developed in the diagnosis of rare genetic conditions.
Children’s is also collaborating with the Clinic for Special Children on a new venture, the Central Pennsylvania Clinic for Special-Needs Adults and Children, which will serve the families of approximately 500 children who among them have more than 90 different rare diseases.
Children’s Hospital and Dr. Morton plan to collaborate further by reaching out to communities across the United States where clusters of children are affected by genetic conditions such as propionic acidemia, MELAS, calpain muscular dystrophy,GM3 synthase deficiency, immune deficiencies, and a newly discovered iron-transport disorder that causes progressive spinal cord degeneration and blindness. “We want people in these communities to know that Children’s Hospital of Pittsburgh is a destination where patients with rare diseases can receive cutting-edge specialist care,” says Dr. Morton.
Dr. Morton’s path to a medical career was unorthodox. A high school dropout, he gained admission to college by taking correspondence courses during six years in the U.S. Merchant Marine and the U.S. Navy. He graduated from Harvard Medical School in 1983 and completed a residency in pediatrics at Boston Children’s Hospital and a 3-year research fellowship in biochemical genetics at Children’s Hospital of Philadelphia and the Kennedy-Kreiger Institute at Johns Hopkins University in Baltimore. He received the Albert Schweitzer Prize for Humanitarianism in 1993, has been awarded eight honorary doctorate degrees, and received a John D. & Catherine T. MacArthur Fellowship (a “Genius Award”) in 2006. Dr. Morton is a member of the American Academy of Pediatrics and the Society for Inherited Metabolic Disorders. He and his colleagues have authored more than 50 articles in medical journals.
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