Finding hope in darkness: Duke neurologist develops and tests new therapy to help understand and prevent neurodegenerative diseases
Alexandra Angelova was 16 when she began experiencing blurry vision and occasional dizzy spells. Instead of going away, symptoms gradually grew worse. Now nearly a decade later, with her vision at one percent of its original strength and with balance problems that prevent standing or walking unassisted, these symptoms inform every aspect of her daily life.
Angelova gets around the house and walks her dog, Sunny, using a rollator, or seated walker. She presses her back against the wall for balance when going up and down stairs. Every item in her house has a set location so she can find it with her limited vision.
“I cannot perform many basic things which are normal for a healthy person,” Angelova said. “I have to plan every movement and how to do it--how to hold a fork, how to take a shower, and so on.”
Angelova’s case is typical for people with spinocerebellar ataxia type 7, or SCA7, a chronic, inherited neurodegenerative disease. A child with a parent with SCA7 has a 50 percent chance of inheriting the condition. It is caused by a genetic mutation which causes the body to produce a malformed, toxic version of a normally healthy protein.