Because of you you, Kyle pulled through
But at 17, he doesn’t know what the future will bring
Kyle was referred to Yale New Haven Children’s Hospital, where he was diagnosed with LCHAD, a rare genetic metabolic disorder in which the body is unable to break down certain fats it needs for energy. It can be devastating, causing muscle weakness, heart and liver damage, vision loss, and even death.
“It was scary,” remembers Michelle. “So few people have the disease that we didn’t know what to expect from day to day.”
He did really well—until his teenage years With close monitoring from his medical team at YNHCH, Kyle led a pretty normal life in early childhood. But in eighth grade, his muscles started showing signs of weakness. Sometimes his legs just gave out. Soon he needed crutches to get around.
By sophomore year, Kyle was in a wheelchair—and things deteriorated quickly from there. He became too weak to climb stairs or move from a chair to bed without help. Within weeks, he could no longer feed himself.
“It was like an avalanche happening right before our eyes,” says Michelle. “There was nothing we or his doctors could do to stop it. He was getting weaker by the day.”
Kyle was admitted to YNHCH. “That’s when we found out that his heart muscle was affected,” says Michelle. Within a week, he was facing the worst crisis of his life—his heart function bottomed out and stopped altogether.
Your gifts helped saved his life
“We threw all of our resources—everything we had—in his direction,” recalled Mustafa Khokha, MD, pediatric critical care physician. “He absolutely would have died if the team hadn’t performed CPR for over an hour, physically pushing on his chest to pump his heart,” until he could be placed on a special life support machine. “That was a testament to both the physicians and nurses, to keep him alive that long.”
A combination of expert care, leading-edge technology, and experimental medicines brought Kyle back. “A lot of places give great clinical care,” says Dr. Khokha. “But if you want to go beyond that, to integrate the latest research into your treatment, you have to come to a place like YNHCH, where everyone is thinking about—or creating—the latest and greatest discoveries.”
“Right now, a year later, Kyle is doing fantastic,” says Michelle. “He’s doing well in school, has great friends, and has been getting good medical test results.”
But with a disease as rare as LCHAD, doctors don’t know for certain what to expect in the future. That’s why Kyle will be followed very closely— probably for the rest of his life—by the experts at YNHCH.