I don’t believe it,” George Papadopoulos said to his daughter, Emie, when he opened the door of his apartment and saw her standing there. Emie lives on the 11th floor of a condominium in Manhattan’s East Village, and whenever she visited her parents, who reside on the 7th floor, she would roll her wheelchair into the elevator. But on this day, in late March 2019, she stepped into the elevator and ventured there on foot. Seeing the shock on her father’s face, she said to him, “Daddy, I don’t need my wheelchair anymore!”

For Emie, now 46, who works as a civilian administrator in the New York City Police Department, it was the first time in three decades that she felt strong and confident enough to walk on her own two feet.

Emie’s improbable journey from dependence to independence is a tale of resilience, perseverance, and hope. It’s also a case of medical detective work and diagnostic tenacity, performed at NYU Langone Health, at its finest.

When Emie was 8, she started tiring easily and falling during walks. Scraped knees and sprained ankles became the norm. As her classmates raced up stairs, Emie struggled, gripping the banister to pull herself up, one step at a time. When the class went on field trips, she stayed behind. “I felt left out of everything and became a target for bullies,” she says. “People have wonderful memories of their childhood. I don’t.”

Emie’s parents consulted numerous specialists, who believed that the weakness in her shoulders and hips suggested an inherited disease known as limb–girdle muscular dystrophy. However, a muscle biopsy proved inconclusive.

In 1991, at age 12, Emie started seeing Mary-Lynn Y. Chu, MD, director of the Elly Hammerman Center for the Treatment of Neuromuscular Disorders, at NYU Langone Orthopedic Hospital. “At that time, the genetic testing available was limited and expensive, and wasn’t covered by insurance,” explains Dr. Chu.

By the following year, as Emie started high school, her fatigue and weakness had become so severe that she needed a wheelchair to get around. Undeterred, she finished high school, earned a degree in advertising and marketing from the Fashion Institute of Technology, and held full-time jobs.

Some two decades later, Emie refocused on identifying her disease. Dr. Chu persuaded her health insurance carrier to cover a test that would search for genes linked to limb–girdle muscular dystrophy; the results were negative. In 2014, Emie took advantage of free testing sponsored by the Muscular Dystrophy Association that targeted 35 newly identified genes related to the disease. When the results turned out to be inconclusive, Emie, frustrated once again, vowed not to undergo further genetic testing.

That changed late in 2018, when Dr. Chu told Emie about recent advances in genetic testing and suggested she see John G. Pappas, MD, director of the Division of Clinical Genetics in the Department of Pediatrics at NYU Grossman School of Medicine. Fearing another devastating letdown, Emie consulted her mother, Susanne. “Before something happens to me or your father,” Susanne advised, “don’t you think it would be good to let them put the pieces of this puzzle together?”

Emie agreed to proceed with genetic testing. That December, at Hassenfeld Children’s Hospital at NYU Langone, Dr. Pappas drew blood samples from Emie and her parents for whole exome sequencing, a technique that can identify mutations in genes that affect protein function. Although these genes comprise only about 1 percent of the human genome, they contain 85 percent of disease-associated variants.

Three months later, Emie was working late when her cell phone rang. Glancing at the caller ID, her heart began to race. “I have some good news,” said a genetic counselor who works with Dr. Pappas. The diagnosis, she reported, was congenital myasthenic syndrome, a disease that affects less than 1 in 100,000 children. “And the best news is that there’s a treatment.” Emie wept.

Emie’s genetic defect impairs the communication between motor nerve endings and the muscle fibers. An unlikely medication—an oral form of albuterol, commonly used in inhalers to treat asthma and other lung conditions—stabilizes the neurotransmitters connecting the peripheral nerves and the muscles, so that commands are received.

She started taking the drug on March 22, 2019. Her progress was almost immediate. “Within a few days, I felt my body coming alive,” she says. “I call it my magic pill.”

Dr. Chu describes Emie’s mobility today as “close to normal,” and for Emie, it has been a true awakening. She still has her wheelchair in storage but no longer needs it, and like most Manhattanites, does a lot of walking. Emie finds the seashore “a healing place.” Every year, she visits Greece, where her family has a seaside home, and also frequents the beaches of Puerto Rico and Florida. “I just want to live life,” she says. “I want to do everything, and tell everyone I meet that whatever battle you’re facing, don’t give up.”