Andrea Amalfitano knows that although cures may not exist for the illnesses he encounters in his patients, all hope is not lost. He divides his time between his clinic, where he sees patients, and his lab, where he develops gene transfer technologies that are used not only to treat genetic diseases but also to attack other diseases—from malaria to colon cancer to HIV/AIDS.
For Andrea Amalfitano, hope is critical.
“Hope plays an important role, and, in fact, it is one that consumes me. I am a physician and I’m a scientist, so I combine the two,” Amalfitano says. “I teach medical students, graduate students and undergraduate students. I diagnose all kinds of genetic disorders.”
Amalfitano sees the rarest of diseases and disorders. He sees a lot that he knows is excruciatingly hard on families.
“Many times being diagnosed with something rare is not good news. Many times it means very bad outcomes, unfortunately,” he says. “So I spend a lot of time trying to explain that to families, understand what they are dealing with, and, to the best of my ability, give them prognosis information…many things we can do may not be a direct cure, but many times we can support and make things easier.
“Pompe disease is a genetic disorder of, it turns out, not only the heart muscle but also limb muscles—the muscles of your arms and legs—as well as the muscles that control your breathing. The typical life span, up until a few years ago, you wouldn’t live past the age of two.”
Amalfitano’s research has indeed lit formerly dark corridors of despair with the light of hope.
“I had the opportunity to participate in a clinical trial in which we first attempted a treatment for this disorder in the United States,” he says. “And subsequent to that, based upon a number of studies both in the United States and internationally, a drug was derived exactly from the drug we had initially studied and that is now available to all Pompe patients worldwide.
“Now I can prescribe something for which a few years ago there was nothing. Within a year or two, we find dramatic, not only stalling of the disease process but actually reversal. And now these children are coming in and seeing me, and they are able to hop about the room, hop up on the bed to see me, and they are actually happy to see the doctor. And that is very fulfilling for me to see that, in fact, we can have that kind of a dramatic impact on these cases.”
Amalfitano says he’s always learning. And a lot of that knowledge comes from his patients.
“The day you think you know everything is the day you should probably not be a doctor, because there is just too much out there that we still don’t know,” he says. “And patients teach me a lot. Every time I finally get in and talk with a patient or a patient’s family one on one, it just reaffirms for me why I am there and why I have chosen this field. And I would recommend that to any medical student.”