By Sandra G. Boodman
Special to The Washington Post
Tuesday, October 21, 2008
Kathy Rivers thought she had become accustomed to the jaundiced judgments of other people.
A pediatrician by training, she knew that friends and some fellow physicians thought she was somehow responsible for the perplexing illnesses of her three children. Even so, Rivers said, she was taken aback when a pediatric neurologist at Johns Hopkins accused her of exaggerating, or fabricating, their symptoms, which included migraines, seizures, vertigo, severe digestive problems and chronic infections.
"He basically said he thought I had a psychological need to have sick children, that I was making it up and that I didn't need to come back," Rivers recalled of the 2004 appointment, which left her stunned, then resigned. "Too many other docs had already blown me off, or thought I was crazy or medical-attention-seeking," but none had been as unvarnished in their views. Rivers decided she needed to stop dragging her kids to doctors searching for a why and focus instead on coping with what was.
Ironically it was the specialist's accusation -- for which he later apologized -- that proved to be a turning point in a largely fruitless, decade-long quest. After Rivers told the children's trusted pediatrician, Marcia Schwartz of Columbia, about the incident, Schwartz asked her a question: Would Rivers take her children to one more doctor?
The Ellicott City mother reluctantly agreed to see Carol Greene, director of the pediatric genetics clinic at the University of Maryland Medical Center. It was Greene who played a pivotal role that led to a definitive diagnosis for Emily, now 16, the most severely ill of Rivers's children, and revealed a likely cause for the baffling medical problems that affected 9-year-old John and his older sister, a college sophomore who has milder symptoms. Emily's diagnosis raised questions in Rivers's mind about some of her own problems -- including migraines, vertigo and muscle pain -- that had originated in childhood.
The odyssey of Kathy Rivers and her husband, Tom, who works for the Navy, began in 1992 with the birth of their second child, Emily. At that time their first child, then 3, was experiencing migraines, extreme hyperactivity and strange vomiting episodes that left her disoriented. But she was developmentally advanced, and her episodic difficulties paled in comparison to Emily's, which consumed her parents' attention.
Emily was born with a devastating disorder called hydrops fetalis, which involves a buildup of fluid around vital organs including the heart. The problem surfaced during the 29th week of Rivers's pregnancy, apparently after exposure to a virus. Typically, fetuses that develop hydrops die before, or shortly after, delivery.
"I was sent home to wait for the baby to die," recalled Rivers, who was put on strict bed rest for the duration of the pregnancy and hoped her baby would survive. She did; Emily was subsequently found to have severe cerebral palsy, brain damage and multiple organ dysfunction.
Rivers said she and her husband vowed to give their daughter "the best life we can possibly give her."
That was no small undertaking, even for a pediatrician. Emily developed uncontrollable seizures, endured repeated infections and hospitalizations, and had to be fitted with a feeding tube. She cannot sit up, does not speak and requires round-the-clock care. Her mother describes her as "a happy, social person."
When John was born in 1999, the couple faced a new set of obstacles. He had severe digestive problems, epilepsy and poor muscle tone and was so irritable that he screamed for hours. Shortly after his second birthday, he was given a diagnosis of autism.
"A lot people at that point said, 'There's got to be something wrong with that family to have all these sick kids,' " Rivers recalled. John's autism diagnosis was especially devastating, she said, and strained the couple's marriage.
"I went through a period of real grief," recalled Rivers, who by then had given up a busy pediatrics practice because her own children needed her more. Her life seemed consumed by illness.
By 2003, Rivers said, a doctor treating one of the children suggested that the underlying cause of their illnesses might be genetic, possibly an inborn error of metabolism, of which there are hundreds. Rivers said that possibility had also occurred to her.
One potential culprit was a form of mitochondrial disease, a group of genetic disorders that often go undiagnosed or misdiagnosed for years. These diseases, which can affect any part of the body or organ system, can range from relatively mild to fatal. They are caused by defects in the DNA that trigger a sort of "energy crisis," impairing the body's ability to burn food and oxygen to generate energy. Diagnosis is often extremely complicated, time-consuming and expensive, and it can involve biopsies of muscle or skin and many lab tests.
An estimated 4,000 children a year are born in the United States with some form of mitochondrial disease, according to the Cleveland Clinic. There is no cure, but the disorder can be treated, usually by taking an individually tailored regimen of vitamins and enzymes called a "mito cocktail" prescribed by a metabolic specialist. This cocktail typically includes B vitamins and an amino acid called L-carnitine.
In July 2004, after a phone consultation with a Hopkins specialist, Rivers took her children to see a pediatric geneticist there. The geneticist told Rivers that he thought the "picture was too confusing" and that blood tests were inconclusive. He didn't think the children had mitochondrial disease, but he wasn't sure what was wrong.
Next stop was the pediatric neurologist, who accused Rivers of exaggeration.
In November 2004 Rivers took John to see Greene at the University of Maryland. Greene said she was immediately struck by the fact that all three children were affected and that a variety of organ systems were involved.
"When you have a problem that involves so many systems, I tend to think of mitochondrial disease," said Greene, who has treated patients with the disorder since 1984.
"I've seen other families [with mitochondrial disease] where every kid was affected," she said. She told Rivers she wanted to see Emily, because she was the sickest.
"I started with an open mind," said Greene, adding that she first needed to rule out other possible causes. After several months of testing, mitochondrial disease still remained at the top of the list, but a definitive diagnosis would require a muscle biopsy. That procedure was performed in July 2005 at Children's Hospital in Atlanta.
The results showed conclusively, Greene said, that Emily had the disorder. Meanwhile John, Rivers and her oldest child, all of whom were found to have abnormally low levels of carnitine and other suggestive indicators, were started on a mito cocktail that Rivers said has significantly reduced their symptoms. Doctors no longer consider John to be autistic, according to his mother.
Greene said it isn't possible to say for certain, but she presumes that the other two children also have mitochondrial disease inherited from Rivers. Long attributed to exposure to a virus that causes hydrops, Emily's problems may actually be the result of severe mitochondrial disease.
"There's a tendency on the part of the majority of physicians to think that genetic causes are rare," Greene said. "They aren't."
Rivers said she feels responsible but tries not to dwell on the what-ifs. "Blame? You could wallow in that, and I've certainly had periods of it. Most days I don't have time to be depressed, because there's so much work to do."