Doctor Races to Cure Rare Disease That Attacks Children's Brains

Many doctors don't know how to diagnose H-ABC

A Philadelphia doctor is making progress finding a cure for a rare illness that can afflict children.

Just one in 7,000 children born get H-ABC, which is frequently confused with more common and well-known illnesses like cerebral palsy. It's a neurodegenerative disease that attacks children's brains. Because of a faulty, inherited genetic mutation, children progressively lose the ability to move their arms and legs and to speak. Eventually, it can kill them.

There is no cure. Symptoms can only be managed.

Dr. Adeline Vanderver of Children’s Hospital of Philadelphia is racing to find a cure.

“These children have no time to lose,” she said.

Vanderver is at the forefront of researching the disease.

“The white matter of the brain is a part of your brain made up by specialized cells, and they create the insulation around your nerve fibers,” she said. “So your nerve fibers have to travel from the surface of your brain, sometimes very long distances, to connect with your spinal cord and to connect with your arms and legs where those nerve impulses are needed.”

The disease itself is not the only problem.

“A lot of doctors even don't know what these conditions are,” Vanderver said.

Eloise Sloan, 11, of Rockville, Maryland, can understand and hear perfectly, but her motor skills are severely compromised now. Her father has watched a painful process over the years.

“We became acutely aware when she was about 2-and-a-half or so that perhaps there was something a little wrong and we started doing a lot of investigation and going to visit some doctors and, quite honestly, they didn't know what was going on, either,” Britt Sloan said.

Once Eloise finally was diagnosed with H-ABC the Sloans were at least able to get her into treatment to manage her symptoms and to doctors for monitoring.

Eloise has slowly lost movement and speech. The Sloans altered their house so Eloise can get around as easily as possible.

The family found their way to Vanderver years ago for Eloise's treatment.

Vanderver has identified the gene linked to H-ABC and now works with a team to find a cure.

“In the last decade, there’s really been revolutionary new approaches in how to target specific genetic changes in the body and to try to change those problems at the source,” Vanderver said.

By using cells from affected patients, she measures RNA and DNA hoping to find a targeted therapy that would modify the gene that causes H-ABC.

Vanderver said because the disease progresses slowly she is hopeful she will be able to help Eloise and other children.

The Sloans say Eloise is hopeful, too.

“Everybody that meets her says her smile is overwhelming,” her father said.

“She is genuinely happy,” said her mother, Michele Sloan.

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