Madeline Shertzer, 11, may not be able to see the ball as easily, but she still plans to compete in softball and basketball this coming school year.
“From one season to the next, she doesn?t seem quite as aggressive,” said her father, Ron Shertzer. “She doesn?t catch as many rebounds.”
“That?s because they were taller players,” she corrects her dad in a doctor?s exam room at the Wilmer Institute, part of Johns Hopkins? Baltimore campus.
Her eyes dilated from her recent scan, Maddie is comfortable with the role of advocate for people suffering a rare eye disorder called Stargardt?s disease, though she hasn?t decided it?s her calling.
On Thursday, the spunky Pennsylvania girl spoke to The Examiner about the illness, which she shares with Gov. Robert Ehrlich?s declared running mate, Kristen Cox.
“There are about 25,000 people with this illness nationwide,” said Dr. N. Adams, an optometrist and researcher with Hopkins.
The currently untreatable disease, also known as childhood macular degeneration, usually starts during early adolescence, he said.
“Initially you have difficulty seeing the chalkboard, which progresses to difficulty recognizing faces, which progresses to blinds spots in the center of your vision.”
In one in four cases, the patient ends up legally blind. Half of all sufferers will have poor vision for the rest of their lives, and 25 percent will have one good eye that isn?t affected.
Stargardt?s disease, discovered by Dr. Carl Stargardt in 1909, is a genetic disorder that affects the proteins that help recycle pigments in the cells on the retina that receive light.
In people with Stargardt?s, those proteins cannot remove spent pigments, and those compounds build up in the film behind the retina, Adams said.
“We?re working on research to try to find some good, affective cures for the disease,” he said, though that remains a long way off.
Researchers are looking into the chemical processes involved in the degeneration, as well as possible ways to use adult stem cells to regrow damaged photoreceptor cells and implant them in the retina.
“We know it?s feasible,” Adams said. “There are certain types of fish that replace their photoreceptors on a constant basis by making new ones out of stem cells.”
Maddie is keeping her hopes up, she demonstrates by contorting both hands to cross as many fingers as possible.
“In a couple of years there might be a cure. If not, hopefully I won?t be completely blind.”
Her greatest fear, her father says, “is she won?t be able to drive when she?s 16.”
For now, she tries to educate her friends, who otherwise may think she?s being rude when she doesn?t see them wave from across the street. And she?s getting ready to learn Braille “as a backup plan.”
“When God takes something away he?s also making something else stronger,” Maddie said, though she hasn?t figured out just what that is.
