Oliver Richards was born with a mysterious disease, but following a litany of tests and treatments, his rare illness was identified and is now under control. Sandra G Boodmanreports
By the time her son was four 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 paediatrician pronounced, dismissing her concerns as the customary anxiety of a first-time mother.
Richards, a senior policy analyst for the Environmental Protection Agency in the US, was sceptical: 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 she was overreacting and nothing was wrong.
When Oliver was six months old, the paediatrician grew concerned and referred him to the Children's National Medical Center in Washington. The 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 anaesthesia; 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 night-time 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 paediatrician.
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 says, 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 minimised her concerns.
One casualty of the ordeal was her marriage. She and Joshua Stearns separated when their son was 16 months old. Both cite the strain of caring for a chronically ill child - a commonly cited cause of marital dissolution - and the early disagreements about the severity of Oliver's problems.
"I thought that different kids mature at different rates," says Stearns, a real-estate agent, 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 tumour; a rare form of multiple sclerosis; an autoimmune disorder; muscular dystrophy; and neurofibromatosis, a disorder that causes skin tumours 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.
One of the scariest occurred shortly after Oliver's second birthday.
When Oliver began vomiting during a bout of the flu, his new paediatrician, Eduardo Fox, told his parents to take him to a hospital and called to alert the staff.
When the family arrived, the emergency room was swamped. They dutifully waited their turn. After two hours Oliver, who had no fever, suddenly went limp.
"I was holding him, and his eyes began rolling back in his head," Stearns recalls. "Lynn jumped up and ran over to the desk," and doctors whisked Oliver away for immediate treatment. Testing revealed that his blood sugar was dangerously low, his mother recalls, signalling severe hypoglycemia.
Fox, meanwhile, had zeroed in on the abnormal result of a highly specialised urine test that a geneticist at the Children's National Medical Centre had earlier sent to the Mayo Clinic. Fox suspected that Oliver's problem might be a rare inborn error of metabolism, but a more definitive diagnosis would require more than one analysis.
He ordered a second test. After some uncertainty, Fox's hunch was confirmed. Oliver had short-chain acyl-co-enzyme A dehydrogenase deficiency (SCAD), an inherited inability to convert certain fats into energy, especially during periods without food or liquid.
SCAD occurs when a person inherits two copies, one from each parent, of a genetic variation or mutation.
The disorder is believed to affect between one in 40,000 and one in 100,000 newborns. It can range from relatively mild, as in Oliver's case, to severe.
Poor muscle tone, also known as hypotonia, growth problems and developmental delays are common. SCAD can cause severe hypoglycemia, seizures and sudden death. Lethargy is a sign of metabolic distress that must be treated rapidly.
The only thing that didn't fit the SCAD diagnosis, which was confirmed through a skin biopsy, was Oliver's big head. It was, doctors decided, a diagnostic red herring of no obvious significance.
"In many ways Dr Fox is the hero in all this," says Richards, who, with Stearns, credits Fox's persistence and ability to communicate with them and the Children's specialists as the key to uncovering the diagnosis.
Fox demurs. "I don't think I've thought of anything that anyone else didn't, but Lynn and Josh appreciate that I was willing to work with them on it and follow through," by focusing the search and co-ordinating test results. "It was truly more of a team effort", he says, in which specialists were integrally involved.
Uncertain about how best to proceed, because SCAD is newly recognised and poorly understood, the couple took Oliver to a specialised metabolic clinic at the Children's Hospital of Pittsburgh in June 2006. Officials there recommended that Oliver eat small quantities of high-carbohydrate, low-fat food at least every two hours during the day, remain properly hydrated, and receive a specific IV solution at the first sign of lethargy to forestall a metabolic crisis.
"He hasn't been to the hospital since, and he's gained 15 pounds," says Richards, as her wiry son, now five, arranges stuffed animals in the living room of their suburban bungalow. "I think things are more or less under control now."
Both parents are nervous about how he will fare when he starts school. "I still need to remind his teachers at day care to feed and water him regularly," his mother says. "He will always have this, and he will always need to manage it." He receives physical therapy and wears leg braces for his motor problems and recently started speech therapy; there is no evidence of cognitive difficulties.
"One of the neat things is that there is an answer, and he's not too seriously affected compared to what it could be," Fox observes. "There are a lot of kids with developmental delays and hypotonia, and you never know what's causing it."