What's Wrong With Eli? A Mother's Quest

An article (below) written by Amy Dockser Marcus on March 9, 2010 for the Wall Street Journal on how a two year-old boy's seizures and developmental delays have baffled doctors and complicated his treatment.

At age 2, Eli Jenkins doesn't talk, crawl or walk. He has trouble swallowing and cannot feed himself. He takes medication to control seizures.

No one is sure what is causing his problems. Geneticists, cardiologists, hematologists, allergists, immunologists, endocrinologists, neurologists and other specialists have examined Eli, but each has turned up nothing conclusive.

In mid-December, Janelle Jenkins and Eli flew from their home near Orlando, Fla., to Ohio—the latest stop in her quest for a diagnosis. Ms. Jenkins, 31, left her 5-year-old and 3-year-old sons at home with their father in order to take Eli to see doctors at the Cleveland Clinic.

"This is one of our last resorts," says Ms. Jenkins. "Some may say a diagnosis is just a 'name' and won't change anything ... so what's the point?" she says. "It matters to us for so many reasons."

Ms. Jenkins says she wants to be able to seek out therapies for Eli's condition instead of reacting to whatever medical crisis arises. She needs a name to know where to look. The family can't plan ahead because they have no sense of Eli's prognosis—his likely life span, his intellectual or physical potential, or the problems he will face. Also unsettling is not knowing whether the condition might turn up in the Jenkinses' older children later in life.

Researchers say the lack of a diagnosis affects far more people than was previously thought, although precise statistics don't exist.

The National Institutes of Health set up a special program in 2008 to help undiagnosed patients identify their illnesses. In a survey of people with rare diseases, 36% remained undiagnosed for one year or longer, and 1 in 7 patients remained undiagnosed for six years or more, according to the nonprofit National Organization for Rare Disorders.

The NIH estimates about 25 million Americans have rare diseases, defined as affecting fewer than 200,000 people.

A bill introduced in Congress last spring would establish the first-ever national registry of undiagnosed patients. And Internet forums are expanding resources for these patients. While checking one Web site, for instance, Ms. Jenkins found the name of a Cleveland Clinic medical geneticist who had spent seven years before finally reaching a diagnosis for one family. Trying to identify undiagnosed diseases is extremely difficult. Even at the NIH's program, which has so far studied the cases of 240 people, the success rate is only 10% to 15%, says William A. Gahl, who runs the program. "The norm is failure," he says. Some diseases are new and simply haven't been seen before, Dr. Gahl says. And, he says, "We don't even know all the variations of known diseases."

For the Bourhill family of East Rutherford, N.J., not having a diagnosis has made it difficult to figure out how to treat their daughter, Paige. David Bourhill says Paige, now 4½ years old, was born healthy and developed normally until the age of 10 months, when she came down with a fever and suffered a seizure. She still doesn't talk or walk. Her parents say they are uncertain of how much she understands.

Paige's doctors treat various symptoms as they arise, but it is sometimes challenging for the family to get reimbursed for medication. Mr. Bourhill says one fight he had with his insurance company was over intravenous immune-globulin treatment, often used for auto-immune diseases, that costs $4,000 a month. Since starting the treatments, Paige has been able to sit up on her own and seems livelier, Mr. Bourhill says. The insurer ultimately approved the therapy. Still, Mr. Bourhill estimates the family has so far spent about $40,000 of its own money on Paige's care.

For Ms. Jenkins, the hardest part of the past two years is coming to the realization that she may never have an answer to what is causing Eli's medical problems. The long, fruitless search for an answer, the testing and the trips, have all taken a toll. Insurance covers the doctors' visits and testing, but the travel and hotel stays add up.

Before Ms. Jenkins set out from home, the couple agreed that if this visit to the Cleveland Clinic yielded no definitive answer, their quest for a diagnosis might have to end. Instead, they would focus on reconciling themselves to caring for Eli without ever knowing what is wrong with him.

When Marvin Natowicz, the medical geneticist, met with Eli, he spent four hours giving the boy an exhaustive clinical evaluation. Dr. Natowicz says he looked for the tiniest clues. He felt Eli's hair, examined his toes, checked his vision. He measured the distance between Eli's eyes, the circumference of his head, and carefully studied the boy's fingernails and the whorls on his palms. Anything might send the doctor down a different diagnostic pathway. He asked Ms. Jenkins to send him baby pictures of herself and her husband at the same age as Eli.

Dr. Natowicz says that he lets families know that he will continue searching for a diagnosis for as long as they want. But there are reasons to consider stopping. The costs of tests can be prohibitive. Some are invasive, involving anesthesia, multiple blood draws or skin biopsies. When Dr. Natowicz meets with parents, he says he also urges them to consider the likelihood that, even if a diagnosis is ultimately found, the child's disease might not have a treatment.

A few weeks later, Dr. Natowicz issued an initial report. He felt that Eli likely had a genetic condition affecting his nervous system, but did not yet have a diagnosis. He wants to see the boy again at the clinic in July.

Ms. Jenkins says she will bring Eli back for a follow-up visit. But she says she is being realistic. "I understand there may never be a name," she says.