Five months into Patricia Vega’s pregnancy, doctors told the Hampton Bays resident that something was wrong. Her baby’s limbs were growing slower than his head and body, but doctors could not explain why.
On March 18, 2005, Ismael Vega was born at Stony Brook University Medical Center, tipping the scales at a healthy 6.9 pounds and was 17 inches long. Five months later, biopsy results uncovered a brutal reality.
For the rest of his life, Ismael will suffer from osteogenesis imperfecta, or OI, a rare genetic disorder characterized by fragile bones that break easily—also known as “brittle bone disease”—that affects between 25,000 and 50,000 Americans.
“No cure. No hopes. No future,” Ms. Vega said. “That’s what the doctors said.”
They were only partially correct.
While there is still no cure, doctors never predicted that Ismael’s battle with OI would lead him into an operating room twice in less than three years, and then on to Washington, D.C. The 6-year-old returned from the nation’s capital last week after telling his story to members of Congress, advocating for musculoskeletal research funding with his mother and Dr. Daniel Green, his pediatric orthopedic surgeon.
“I told them about my legs,” Ismael said during an interview at his home last week. “I told them about how I fell and I told them about my surgeries. I told them about how I’m getting better, and I showed them how I can walk. Right?”
He looked to his mother for reassurance. She smiled and motioned to him with her hands. He pushed himself up off the ground and grabbed a nearby chair, steadying himself in his leg braces. Shunning the miniature walker to his left, he sidestepped to the right, barreling into the couch and Ms. Vega’s lap.
“I can walk, see?” he said.
She gave him a squeeze in response, wiping a stray tear from her cheek before he pulled himself loose to play on the floor with his toy cars. She shook her head and laughed to herself.
Ismael suffered his first fracture when he was 13 months old. Up until that point, his parents said they carried him everywhere to prevent him from putting any weight on his body. But the young boy had instincts—and those told him to stand up.
By the time he was 3, Ismael had fractured his leg bones 12 times and had more than 100 tiny micro-fractures, including some in his arms. His family said they could actually hear his bones breaking: Each crack sounded like a tiny tree branch snapping.
“Also, you could tell when he fractured his legs, because he would cry,” said his brother, Christian, 16, sitting next to his 18-year-old brother, Jose. “He would cry so loud.”
“He wouldn’t move at all,” said their sister, Michelle, 14. “He’d just lie there and cry.”
“It got to the point where it was just automatic. He’d try to stand, and something would break,” said Francisco Vega, Ismael’s father. “There were only so many times we couldn’t let him go on the floor. What could we do?”
Doctors said Ismael would spend his life in a wheelchair, unable to walk. It was an undeniable future—that is, until the Vega family met Dr. Green, a pediatric orthopedic surgeon at the Hospital for Special Surgery in Manhattan.
“He was a severe case,” Dr. Green said during a phone interview this week. “One of his femurs was over 90-degrees bent. We decided it would be best to go through with multilevel osteotomies, or a medical term for cutting the bones, making them straight and placing telescoping rods inside of them. The rods then grow with the child.”
The first surgery was in June 2008, when Ismael was 3 years old.
“Waiting in the hospital during surgery, that was brutal,” Mr. Vega recalled. “You don’t know what’s going on with your son inside the room. All we could do was wait, wait, wait.”
Over the course of seven hours, Dr. Green placed a rod in each of Ismael’s femurs. The boy recovered in the hospital for three days and for the next six weeks wore a cast from the waist down. In six months, Ismael was back on his feet—and on his 4th birthday, he took his first steps.
“I’m not sure if it was out of happiness or what, but I’d say he did a good 4 feet, all alone walking, without the walker,” Ms. Vega said, choking back tears. “That was the first time since he was born,” Mr. Vega added.
By last summer, Ismael was walking as if he’d always known how. He visited the beach for the first time, building sand castles and dipping his feet in the water now that they were finally free from itchy casts.