Dr. Brian Kirmse is a pediatric geneticist. His job, as he puts it, is to “take care of kids with strange, rare diseases.”

If the law of Occam’s Razor suggests that the simplest explanation is usually the correct one, the law of pediatric genetics tells us that with 25,000 genes in our bodies, the strange and rare will inevitably happen.

And so it was with a 3-year-old boy from Annandale named Jackson Hudgins. When Jackson was helicoptered in to Children’s National Medical Center in February, doctors weren’t sure what was wrong with him, but they knew he was very sick. His heart had stopped twice. He had been resuscitated twice and been intubated. His arms and legs were rigid, his muscles as hard as wood.

The rigid limbs were a condition called rhabdomyolysis, caused when muscle tissue breaks down and releases harmful proteins into the bloodstream. It’s measured by checking a patient’s creatine kinase level. A typical CK reading is around 150. Jackson’s was 919,000.

At Children’s, doctors took a bit of muscle from Jackson’s thigh and subjected it to a battery of tests, trying to find which of the myriad factors that can cause rhabdomyolysis was responsible. At first they thought he might have a fatty acid oxidation disorder, in which the body is unable to tap into its fat stores for energy. But the test results weren’t consistent with that.

Jackson Hudgins, 4, of Annandale. When he was 3, he was diagnosed with a condition known as LPIN-1 deficiency. Only 33 people in the world have been diagnosed with it. He was treated at Children's National Medical Center. (John Kelly/The Washington Post)

Then Kirmse spoke with the Mayo Clinic’s Dr. Kimiyo Raymond, who had been one of his teachers at Mount Sinai in New York. She asked whether he had considered LPIN1 deficiency.

He hadn’t. For starters, it was thought to be an extremely rare disorder. The gene was only cloned in 2008, and no cases had been diagnosed in the United States. Until Jackson. He’s one of fewer than three dozen people in the world who are known to suffer from LPIN1 deficiency, named for the mutated gene that causes the condition.

“He could have picked a better way to be famous,” Jackson’s mother, Valarie, joked recently as her son, now 4, played in their living room, having grudgingly come in from outside.

Jackson spent 43 days in the hospital, then a week in rehab, getting his strength back. To look at him now you’d never know how close to death he came. But his parents must be vigilant. “If he gets any kind of fever we’re supposed to go to the hospital,” Valarie said.

A fever, dehydration, lack of food — these are all things that could bring on another episode. Valarie carries a letter outlining the immediate course of treatment should Jackson end up in a hospital again, chiefly to get his body some food so the muscles don’t start to destroy themselves. Said Kirmse: “We make sure they always have another form of fuel, i.e., glucose: sugar. We don’t let them fast. We bring them into the hospital and put glucose in a vein.”

As for how Jackson got the condition in the first place, it was the crapshoot of genetics. His mother and his father, Elvis Hudgins, carry the genetic mutation. They met on the job — at the same auto parts store where they still work — and became a couple. Jackson had a one in four chance of getting it.

Doctors aren’t sure exactly why a rapidly spiking CK level is so dangerous. It was thought it was because as the skeletal muscles deteriorated they dumped potassium into the bloodstream, a chemical that can harm the heart. But Dr. Kirmse thinks something else may be going on. Research continues.

“It’s probably a much more common disease than we think,” Dr. Kirmse said. Doctors at Children’s are going back to see whether cases that stumped them previously might be put down to LPIN1.

And the next time a kid comes in as sick as Jackson, they might have their answer.

Helping Children’s

This is the time of year I ask readers to help support Children’s Hospital by making a donation to its uncompensated care fund, which pays the medical bills of underinsured children. You can be a part of this tradition by sending a check or money order (payable to “Children’s Hospital”) to Washington Post Campaign, P.O. Box 17390, Baltimore, Md. 21297-1390. To donate online, go to

Our goal is to raise $500,000 by Jan. 6. A gift of any amount — from $1 to $499,999 — will move us in the right direction.