By Sandra G. Boodman
Special to The Washington Post
Monday, February 21, 2011; 10:55 AM
Shortly after Thanksgiving 2009, 14-year-old old Abby Picard began complaining that her right ankle hurt. Her parents brushed it off, believing her discomfort was the result of her fondness for fashionable thin-soled sneakers and an extremely heavy backpack. "We thought nothing of it," recalled her mother, Michelle Picard, director of early childhood and elementary education for Arlington County.
In mid-December, after the ankle had swelled and the pain intensified, Abby went to see a family physician affiliated with the large primary-care practice in Northern Virginia that her family uses. An X-ray ruled out a fracture - and a more ominous cause such as osteosarcoma, a form of bone cancer - while a blood test revealed the likely culprit.
"The doctor called and told me it was a strep infection and that it was attacking her ankle, and I needed to take it very seriously or she could develop rheumatic fever," Michelle recalled.
Taken aback by the doctor's vehemence, Michelle wondered how strep could settle in an ankle. Abby took the antibiotic and steroid he prescribed, but instead of getting better, she felt worse.
Within two months, the high school freshman was unable to climb the stairs in her home and had to be carried up and down by her father. By then she had developed insomnia and missed weeks of school, and her baffling malady had become the focus of her family's daily life. Several doctors were stumped, and it took three months before a pediatric specialist figured out what was wrong.
"It was incredibly emotional, as a parent," Michelle recalled. "She wasn't sleeping or going to school. When you watch your child suffer, it's just a steady stream of misery."Suspected Lyme disease
By the end of December 2009, Abby's ankle was badly swollen and the pain had spread to her right hip, knee and shoulder. A second doctor in the practice recommended that Abby take naproxen, an anti-inflammatory medicine. If that didn't help, he suggested that she see an orthopedist.
The orthopedist she saw in mid-January 2010 "took one look at her ankle" and decided the problem was not bone-related, her mother recalled. He sent her to a rheumatologist, a specialist in joint diseases.
The rheumatologist, who saw her three times, told the Picards that he rarely treats children or teenagers. He aspirated fluid from her ankle for analysis and listened to her expanding list of symptoms: fatigue, mood swings and badly worsening eczema, which was usually controlled by medication.
"We were getting really concerned," her mother said. "She was in a lot of pain."
In late January, the rheumatologist called to say that there hadn't been enough fluid in the sample to analyze and that he needed to repeat the aspiration. The wrong blood tests had been performed, Michelle recalled him saying, and one seemed to indicate possible Lyme disease. But the definitive test for Lyme, the Western blot, had twice been negative, and Abby did not remember being bitten by a tick. The doctor wanted Abby to stop taking the anti-inflammatory drug, so he could extract more fluid in a week or two.
"He seemed convinced it was Lyme disease," Michelle recalled, but did not want to treat it without confirmation. The doctor also mentioned arthritis in passing as a possibility, but was focused on Lyme, she said.
By the end of January, her pain worsening, Abby was back in the family doctor's office, where she saw a third doctor, because her regular physician was unavailable.
"We were freaking out because we were convinced she had Lyme and no one was treating her," Michelle recalled. At her parents' urging, the family doctor agreed to prescribe a 21-day course of antibiotics to treat presumptive Lyme disease.
The antibiotic made Abby severely nauseated but did nothing to quell the pain or swelling. "I kept expecting I'd be back in school next week, but I kept feeling worse," she recalled. Despite her fatigue, insomnia had become a problem, and her ankle hurt so much that she spent her days in bed.
Increasingly alarmed, Michelle Picard called a friend who is a nurse practitioner. Her advice was unequivocal: Consult a pediatric rheumatologist. Abby was referred to Bita Arabshahi, one of a handful of pediatric rheumatologists practicing in the Washington area.
Arabshahi, who is affiliated with Inova Fairfax Hospital, saw Abby in mid-February. At the first visit she told the Picards she suspected Abby had enthesitis-associated juvenile rheumatoid arthritis, which causes inflammation of the tendon at the bone; further testing would be needed to make a definitive diagnosis.
"I said, 'Arthritis? How is that possible?' " Michelle Picard recalled. "She's only 14."A missed clue
Rheumatoid arthritis is an autoimmune disorder, an illness in which the body's immune system attacks its own tissues. Juvenile rheumatoid arthritis (JRA), which causes stiffness and inflammation in joints, occurs in those 16 and younger; girls are twice as likely to be affected as boys. Unlike adult rheumatoid arthritis, which is permanent and chronic, some children outgrow it.
The disorder is believed to have several causes, according to the Web site of the NYU Langone Medical Center in New York, including unknown environmental factors and a genetic susceptibility, reflected in a family history of autoimmune disorders and a positive blood test for the HLA B-27 antigen.
There is no specific test for JRA, but the hallmark symptom is joint inflammation that is present continuously for at least six weeks, and stiffness, especially in the morning. The pain Abby felt in her other joints is typical, as is the fatigue. Her insomnia and worsening eczema, Arabshahi said, were probably related to stress.
It is typical for JRA patients to see multiple doctors before receiving a correct diagnosis, Arabshahi said. Some have even undergone unnecessary surgeries. In Abby's case, Arabshahi diagnosed the disease based on an MRI scan, a positive test for the HLA B27 antigen and Abby's family history. Several of her relatives have other auto-immune diseases.
"Whenever you have a joint swelling that lasts six weeks, doctors should consider JRA, especially when there is no history of trauma," said Arabshahi, adding that she has treated other youths given the misdiagnosis of Lyme disease. "I think some physicians don't practice evidence-based medicine," she said.
A negative Western blot test is considered definitive evidence that a person does not have Lyme disease by the Centers for Disease Control and other experts.
For Abby, learning that she had JRA was a relief, even though the condition is serious. "At least now we knew what it was," she said.
Sorting out the proper medication took weeks; because Abby had missed so much school, she was tutored at home and returned for the last two weeks to take final exams in June.
"I feel great," she said recently. Although she is susceptible to flares of the disease, her case is classified as mild, Arabshahi said. So far she has been able to avoid taking injectable drugs that are used to treat more serious cases.
In retrospect, Michelle Picard said she wishes she had insisted on seeing Abby's regular doctor. "We as her parents were trying to coordinate and make decisions without having a primary-care doctor coordinate things for us," she said.
"I regret not going to a pediatric specialist sooner," she added. "When your kid's in pain and it's affecting your life, it's tough. We were at the mercy of the professionals."
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