If a cure became available today, Ngai knows exactly what he would do.
He would gather his friends on the basketball court and, for the first time in his life, would play an entire game. No long breaks for a full glass of ice water. It isn’t that he is always thirsty, it’s that he needs something cold to hold onto, to soothe the painful burn in his hands that happens whenever he exerts himself.
On that basketball court, Ngai would sweat hard and run hard, two things his body won’t currently let him do.
“I love to compete,” the 6-foot-4 Los Angeles resident said. “I’d go dunk on somebody.”
Sadly, there is no cure for Fabry disease, a rare genetic disorder marked by a deficiency of an enzyme called alpha-galactosidase A. The disease allows a type of fat to accumulate that can cause major organs to break down, including the kidneys, heart and brain. One symptom is a decreased ability to sweat.
For almost two decades, Ngai (pronounced “Guy”) didn’t know that he had a life-threatening disorder. He just knew something was painfully wrong, and that no one could properly diagnose it.
“At the age of 12, I began to have burning in my hands and feet — just intense pain — which caused me to go on a search to different doctors trying to find out what it was,” Ngai said.
“It was complete frustration, because no treatment was given, no type of anything. There was no testing. … It was so rare and unheard of that they didn’t know what to do with me. So, it was just, like, send me home with some aspirin or some Tylenol, and that was it.”
Finally, when Ngai was 31 years old, he met a doctor at Cedars-Sinai who heard his complaint about the pain in his hands and feet and had a hunch. The doctor suspected Fabry disease, and blood tests confirmed it.
When I finally got the diagnosis, it was a bit of relief. Really not ‘a bit,'
it was a bunch of relief”
“When I finally got the diagnosis, it was a bit of relief. Really not ‘a bit,' it was a bunch of relief,” he recalled. "I was relieved as well as a little bit shaken, because he told me that it was a life-threatening disorder. But also, that there was a cure being worked on. It gave me hope.”
After his diagnosis, Ngai learned how important it was not to overexert himself. He also has to be careful in hot weather. If it’s 90 degrees and above, he has learned to expect a flare-up and the deep fatigue it brings.
For a while, he participated in an enzyme replacement therapy that involved intravenous infusions of an enzyme replacement therapy drug. As the drug built up in his body, the sessions grew shorter.
“It goes from eight hours to six hours to four hours down to two,” he recalled. “I could feel the difference of me sweating actually this time. I could feel, you know, I felt a little stronger. I was sweating in places I didn’t normally sweat, across my forehead, underneath my arms. So, I believe it was working.”
Ngai stopped that therapy a few years ago, however, and now he does his best to manage his disorder by eating well, doing minimal exercise and avoiding the heat.
He knows that people can’t tell anything is wrong with him by looking at him, and he says that because it is a “heavy thing to deal with” he has not always brought it up with people he has dated. He hasn’t tried to explain it to all of his friends, either.
“My friends would be like, ‘Hey, Ngai, come on in. Let’s go out and go to the beach,’ or, ‘Let’s go out to the amusement park.’ I couldn’t participate because the pain was so heavy on me,” he said. "Some of my friends would be like, man, you’re acting like an old man. Get with it. Get with the program. I wanted to participate as bad as I could, but I just couldn’t. It was just too, too rough on me.”
But in his adulthood, Ngai has learned to live with his symptoms as he waits and hopes for a cure. As a professional songwriter, he pours his focus into his music, not his “disorder.”
“I don’t like to call it a disease because most diseases that I know about they, they really take you out,” Ngai said. “I like to call it a disorder because I’m still fighting. I’m still strong. I still go about living my life.”