Illness Takes Toll on Boy And Parents

By the time her son was 4 months old, Lynn Richards was certain something was wrong. Baby Oliver couldn't lift his head, which was unusually large, and he was as floppy as a rag doll.

"He's just lazy," the pediatrician pronounced, dismissing her concerns as the customary anxiety of a first-time mother. Richards, a senior policy analyst for the Environmental Protection Agency, was skeptical: How, she wondered, could a baby be lazy? She felt torn by conflicting advice from her mother, who urged her to do something, and her husband, who told her that she was overreacting and that nothing was wrong.

When Oliver was 6 months old, the pediatrician grew concerned and referred him to Children's National Medical Center in Washington. The Arlington family was launched on a merry-go-round of appointments with specialists in physical medicine, neurology and genetics in the quest for an answer.

Numerous tests followed: MRIs that required general anesthesia; a painful muscle test involving the insertion of multiple needles into his arms and legs during which Oliver had to be held down by his father; lengthy blood draws complicated by the collapse of his tiny veins; and hours languishing anxiously in waiting rooms. The process was punctuated by several terrifying nighttime sprints to various emergency rooms when Oliver would, in a matter of hours, go from being perfectly healthy to deathly ill.

Diagnosing the problem would take more than two years, and a definitive treatment plan longer still. In the end, the key clue to the mystifying problem lay in the results of a urine test flagged by an alert pediatrician.

To Richards, now 41, one of the worst things was "feeling ambushed all the time. Every single time when I thought we were at the end of this, we were just starting, and [doctors] would suggest, 'Let's test for this.' "

Equally difficult, she said, was making sense of the conflicting messages from various specialists, each of whom seemed to have a different idea of what might be wrong, or who she felt minimized her concerns.

One casualty of the ordeal was her marriage. She and Oliver's father, Joshua Stearns, now a Northern Virginia real estate agent, separated when their son was 16 months old.

Both say the strain of caring for a chronically ill child -- a commonly cited cause of marital dissolution -- contributed to their divorce, as did early disagreements about the severity of Oliver's problems.

"I thought that different kids mature at different rates," said Stearns, who sees his son nearly every day. "Looking back on it, I think, 'How could I have been dismissive of something that was pretty serious?' "

As months passed, doctors ruled out a brain tumor; a rare form of multiple sclerosis; an autoimmune disorder; muscular dystrophy; and neurofibromatosis, a disorder that causes skin tumors and was suggested by the appearance of telltale birthmarks called cafe au lait spots. Another possibility was a metabolic disorder, of which there are dozens.

No one was sure what to make of Oliver's frequent illnesses: four bouts of pneumonia, chickenpox, strep throat, and hand, foot and mouth disease. Sometimes these illnesses presaged frightening episodes of vomiting and lethargy.