Children's Hospital's Rare Disorders Program Only One in U.S.

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Tuesday, September 13, 2011

By Rachel Weaver

When Jill Wood's 3-year-old son, Jonah, was diagnosed with Sanfilippo Syndrome last year, she had a lot of questions.

Because there are only about 18 confirmed cases in the country, answers were hard to find. The disease leaves the body unable to properly break down long chains of sugar molecules. Therefore, the help pediatrician Dr. Maria Escolar has been able to provide the family is "immeasurable," said Wood, 38, of Brooklyn, N.Y.

"She helps me understand the science," Wood said.

Escolar, who has earned international recognition for her work treating children with neurodegenerative diseases, recently brought her Program for the Study of Neurodevelopment in Rare Disorders to Children's Hospital in Lawrenceville. It is the only program of its kind in the United States, UPMC officials said.

"I had a feeling that the need was there, the parents were desperate, and if I didn't do it, probably nobody would," Escolar said about her decision to devote her career to studying rare diseases.

Escolar began the program in 2000 at the Center for Development and Learning at the University of North Carolina to help children and their families understand the impact of rare neurological diseases on child development.

The program provides evaluation, education, research and intervention for patients from around the world with rare, inherited neurological conditions. The multidisciplinary approach focuses on the interactions of genes, brain and behavior, and their effects on child development.

It has been invaluable to Wood and her husband, Jeremy Weishaar. Children with Sanfilippo Syndrome Type C lose the ability to walk, talk and eat on their own. The disease occurs once in every 1.4 million births. Most die before age 20. There is no cure.

Escolar, also an associate professor of pediatrics at the University of Pittsburgh School of Medicine, is putting together a study of the disease's history, which should help predict how it acts throughout its progression. Ten families agreed to participate.

"Parents don't know what to expect," said Escolar, who also researches other neurodegenerative disorders. "They ask what will happen next. Will they need a wheelchair? By the time you get what they need, they need something else."

In the meantime, Wood said Escolar has helped her learn to "control the controllable." For example, because Jonah will eventually lose his speech, the family is now learning sign language.

"Most people are told their child has a fatal genetic disease, there's nothing they can do, and they should take them home and make them comfortable," Wood said. "Dr. Escolar is doing a great service to people like us."

copyright © 2011 by Trib Total Media, Inc.

Source: Pittsburgh News

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