The Disease Chaser
June 2, 2010 |  by Michael Anft

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Kelley, who maintains a list of about 300 patients who suffer from several dozen different disorders, has seen the phenomenon repeat itself year after year. When he and Morton worked together at Kennedy Krieger, Morton wrote a grant proposal to the National Institutes of Health to investigate glutaric aciduria in Lancaster County. He lost out to Hugo Moser, who won an award to look into the efficacy of a homespun treatment to slow the progression of adrenoleukodystrophy, another rare and deadly genetically based metabolic disorder that doesn’t afflict the Amish. (Moser’s research was later dramatized in the 1992 movie Lorenzo’s Oil.)

Sensing that academic research for Amish diseases was likely to plod along, if it moved at all, Morton decided to forgo a career as an academic researcher and open the Clinic for Special Children in 1989. He asked Kelley to help him start it. Once the clinic opened on land donated by an Amish farmer, Kelley got to work uncovering the metabolic malfunctions that herald genetic disorders. Kelley’s personalized clinical research method was partly what inspired Morton to work with the Amish and open the clinic, he says. “What he does is a unique form of learning that very few physicians can do. He takes a personal responsibility when it comes to dealing with patients and working through the ins and outs of these rare diseases. The clinic is modeled on that idea.”

Kelley rarely charges anyone—Amish or not—for his services. Much of his simple approach to life, based on family and work, mirrors that of the Plain People he serves, say those who deal with him. “He is a man who has few needs,” says Rebecca Kern, a genetic counselor who works for Kelley. And the modesty and drive that mark Kelley’s lack of careerism at least faintly reflect the steadfast Amish avoidance of pride.

After returning from visiting Joshua one afternoon, he mused on the value the Amish life has for him. “I’m not a religious person, but there are some admirable things about the Amish,” he says. “The self-reliance, the way they help each other. The Amish believe deeply in friendship, and friendship is about hope. You could make an argument that friendship is part of what medicine is about. I can offer people whose children I treat some hope—not false hope, but some idea that we can to do something for them. They appreciate that.”

INSIDE THE OLD FARMHOUSE, a fire burns in a wood stove as Joshua and his brother play with a train set on the floor. Their mother, speaking with a slight accent that hints at a dialect of German, tells Kelley about monitoring Joshua’s heart rate. She’s upbeat about Joshua’s health and his prognosis, an optimism that started to take root about a year ago when Kelley noted that his condition differed from that of other chicken breast disease children. Typically, the tremor that announces the disease disappears when they are 3 or 4 months old. Stretch receptors in tendons weaken and die because of a lack of muscle development, so the tremor never comes back. But in Joshua, the tremor returned, as did some reflexes. Although it might not seem like it, these are positive signs; his muscles were working and growing a bit. By age 1, he looked like a normal kid, and not like one who was wasting away. “It was clear that his musculature was working better than we had seen in the children before,” says Kelley.

Instead of the telltale mound on the chest—“It usually looks like a growing volcano,” says Kelley—Joshua has only one bump, the result of a curvature in his spine. His development has been relatively normal. “There’s no sign that his chicken breast disease will get worse,” Kelley says. The albuterol, in his estimation, is working.

When asked if he has sought evidence in the lab of albuterol’s ability to help infants with chicken breast disease, Kelley says there’s little reason to bother. He’s aware that academic investigators maintain that the rigors and objective criteria of the research study are the lingua franca of the field—standards and protocols that he can’t always follow. He knows that funding for such an enterprise would be hard to find, that there aren’t enough people who suffer from a rare disease to take part in clinical trials to make them scientifically viable, and that his patients need his help now.

“It’s a question of who you want to impress,” Kelley says. “Holmes and I are confident enough that we’re giving albuterol to Elam, the latest child we’ve seen with this disease.” In previous studies, Kelley adds, the drug has shown the ability to modulate the expression of genes. That may be what’s going on with Joshua and the genes that control muscle development. That’s enough evidence, along with Kelley’s own observations, to justify his thinking, he says. Doctors could perform a muscle biopsy on Joshua to see what effect albuterol is having on his tissue, but that would involve poking him with a needle to excise part of a muscle.

“I’m very averse to using invasive procedures,” Kelley says. “It’s a hard sell to the scientific community, who want to see some evidence from the lab. If there were other populations who suffered from these particular diseases, then we’d have reason to do that. But in this case, we don’t.”

As he folds his lanky frame into his Prius, Kelley pauses to note that Joshua’s life won’t be normal, but it’s likely he’ll at least be able to lead it—unlike every sufferer of the disease before him. He may have to undergo several surgeries to place rods in his spine to correct the scoliosis, or spinal curvature, that he is developing. “He could develop scoliosis to the point where his lungs don’t expand properly, which means we’re replacing one problem with another,” Kelley speculates. “We discussed this at length with his family. It’s possible that we’ve saved him from chicken breast disease, but he may be in a wheelchair his whole life.”

Then it’s down the road to the home of another patient. And the next medical mystery.

Michael Anft is Johns Hopkins Magazine’s senior writer.