NEW PORT RICHEY
Last May, while at college in upstate New York, Cody Alessi started having seizures. • The first one — or at least the first time there were witnesses — came during a bus ride with his school baseball team. Alessi, then 20, had just dozed off when his body began shaking uncontrollably. A friend alerted coaches on the bus who called 911. Alessi was unresponsive for more than 10 minutes, then dazed and confused for half an hour. • Doctors at a nearby hospital said he had suffered a seizure. They sent him to a bigger hospital, where an MRI showed abnormal lesions on his brain. But doctors didn't know what caused them — maybe a parasite, one speculated.
Once Alessi was back home in New Port Richey, he visited doctors around the bay area, who all had their own theories.
Alessi was put on high doses of antibiotics; he was given a drug commonly used to treat parasites in horses; he took powerful steroids that caused him to gain 35 pounds in 3 weeks. One physician insisted that Cody have immediate surgery to place a shunt in his brain to drain fluid in case one of the lesions burst.
"Every doctor was mystified," said Kevin Alessi, 46, Cody's father. He peppered doctors nationwide with e-mails describing his son's case, hoping someone could help.
Today, nearly a year after that seizure on the bus, Cody Alessi is one of thousands of Americans that the National Institutes of Health believes is suffering from an unknown condition. He's one of the 170 that the NIH annually invites to its headquarters in Bethesda, Md., to be studied — and they hope diagnosed, though no promises are made. Alessi starts a weeklong hospitalization in Bethesda March 19.
Many of those who turn to the NIH's Undiagnosed Diseases Program would be happy just to have an official name for their suffering.
"There's often a suspicion that surrounds these people," said Dr. William Gahl, clinical director of the National Human Genome Research Institute and director of the Undiagnosed Diseases Program (UDP).
"Family members, employers, doctors are at a loss for what to call it. Some doctors may not even want to see that patient. That isolates them and gives them incredible desperation which is why they are open to any hopeful possibilities we may be able to provide."
The UDP was started in 2008 as a federal research project to learn more about what causes illness, particularly genetic sources, and how to treat it. Only a fraction of the 500 to 600 who apply each year are invited to spend a week being studied by top experts in their fields. About 40 percent are children, some as young as 6 months. It's all covered by federal research funds, because they are considered participants in clinical trials.
"During their week here, we get done what it takes a year or two years to accomplish on the outside," said Gahl. "Because there's no insurance involved, time is not spent getting approval for all the tests. They are in-patients so we can have all sorts of experts see them."
But most patients don't leave with a tidy diagnosis and treatment plan. "Maybe 10 percent get a helpful diagnosis; 25 percent get a partial diagnosis. We really only solve about 20 to 25 percent of cases," said Gahl.
The data from each patient is collected and used to identify new diseases. Last year, scientists in the program identified a rare, debilitating vascular disorder known as ACDC that affects arteries of the lower extremities while sparing the arteries of the heart.
Because of an unusual opening in the program schedule and because all his medical files were readily available, Cody was accepted within days of his application.
"We're ready for any answer," his father said.
Cody, who is now 21, had his last seizure at home, about two weeks ago. Antiseizure medications have decreased episodes, but because of his condition he no longer can drive.
Still, he's trying to resume a normal life by getting back in touch with friends, applying to colleges closer to home and staying in shape to return to college baseball. He's grateful for the chance to go to the NIH and hopes they'll figure out what's happening in his brain.
Meanwhile, he says, "I try not to think about it."
Irene Maher can be reached at firstname.lastname@example.org