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Dr. Maria Luisa Escolar never planned to become a specialist in rare disorders. In the late 1990s she was a pediatrician and clinical professor at the University of North Carolina School of Medicine. One day she encountered a patient, a baby girl, with Krabbe (pronounced “crab A”) disease, a rare inherited disease of the brain caused by a faulty gene.
“She was crying and in a lot of pain,” Dr. Escolar recalls. “None of the doctors her mother had consulted knew what to do for her. There was very little in the medical literature about Krabbe disease and nothing about treatment.”
Dr. Escolar decided to do what she could to treat the child’s symptoms. “Although I could not cure her, I thought I could improve the quality of her life. I was successful in relieving many of her symptoms and making her happier and more comfortable. Her mother was very grateful, and I started getting calls from other families of children with rare inherited disorders.”
Within about a year, Dr. Escolar had established the Program for the Study of Neurodevelopment in Rare Disorders to help children and their families understand the impact of rare, inherited neurological diseases on child development. In 2011—now known nationally and internationally known for her groundbreaking work to improve the treatment of children with inherited brain disorders—Dr. Escolar joined the faculty of the University of Pittsburgh School of Medicine and relocated her program, the only one of its kind in the United States, to the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh.
After receiving her medical degree in her native Colombia in 1986, Dr. Escolar came to the United States to complete a master’s degree in nutrition at Columbia University in New York. She went on to complete a residency in pediatrics in 1993 and a fellowship in child development and behavioral pediatrics in 1995 at New York Hospital–Cornell Medical Center.
Board certified in neurodevelopmental disabilities, Dr. Escolar focuses on two types of inherited brain disorders caused by faulty genes.
“Because these diseases are so rare, most physicians may see at most one case in their lifetime,” says Dr. Escolar. “By contrast, we have seen more than 600 patients, performed more than 2000 evaluations, and developed a repository of information about these diseases that is unique in the world. Our patients and their families benefit from the experience and expertise we have gained. When families come here, not only do they have access to the most advanced treatments for their child’s disease, but their experience adds to our store of knowledge, which will help other patients in the future.”
Dr. Escolar is actively involved in research on the diseases she treats. Her current research projects focus on developing better methods of measuring the progression of Krabbe disease and on identifying markers for a child’s likelihood of developing this disease. She has published more than 60 papers in medical journals, including two articles published in the New England Journal of Medicine.
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