It took four visits to three different doctors and more than a year's time before Samara Pollak, then 8 and a resident of Albany, N.Y., was diagnosed with polyarticular juvenile rheumatoid arthritis. To get her regular care by a pediatric rheumatologist, her parents had a choice of traveling to either Boston or New York City, both three hours away.
Her story demonstrates how hard it can be to find doctors who understand the chronic pediatric disease and can provide the best treatment.
"I ended up in Boston," said Ms. Pollak, now 18. "My sister was going to college there, so we decided to go where we could see my sister."
Life got easier when the family moved here during Ms. Pollak's junior year in high school. Children's Hospital of Pittsburgh of UPMC has a large and highly regarded rheumatology program. It treats hundreds of young patients from as far away as Altoona, western New York, eastern Ohio, and West Virginia. Ms. Pollak became the patient of Raphael Hirsch, chief of the rheumatology division.
Ashlyn Connolly, now 4, had just turned 3 when she also was diagnosed with polyarticular juvenile arthritis. But she is lucky in one way: Her family lives in Mt. Lebanon, so it was only a couple months after she first showed symptoms that she was diagnosed by Paul Rosen, clinical director of rheumatology at Children's. He came to the hospital in 2003.
"It's fortunate we have someone to go to for help," said her father, Colin Connolly.
"There are fewer than 250 board-certified pediatric rheumatologists in the country," said Dr. Hirsch.
That's nowhere near enough.
The Arthritis Foundation estimates there are nearly 300,000 children who have some form of the chronic disease most people wrongly think of as the sole purview of old folks. Training in juvenile arthritis equips a doctor to reduce symptoms that can cause damage in a growing child.
Symptoms of juvenile rheumatoid arthritis include heat and swelling in the joints, but the autoimmune disease also can cause joint misalignment, tighten muscle and soft tissue, erode bone and alter growth patterns. Autoimmune means the body's immune system attacks its own healthy cells.
Dr. Hirsch and his division are actively training fellows to treat young patients under a National Institutes of Health grant. Taking two new fellows a year for three-year fellowships, Children's has produced 10 U.S. fellows and two international fellows since the program began in 2003. Dr. Hirsch said that's between 10 percent and 15 percent of all fellows being trained nationally.
Dr. Rosen also frequently gives seminars on juvenile arthritis to pediatricians in the community.
Seeing the change in the Pittsburgh scene since Dr. Hirsch first arrived in 2002 is Terence Starz, medical director for the local chapter of the Arthritis Foundation. He is a private practice specialist in adult osteoarthritis and fibromyalgia, and a rheumatology professor in the University of Pittsburgh School of Medicine.
"It's remarkable how they have come into Pittsburgh and in a very short period of time made us one of the leading centers in the country for treating juvenile arthritis," he said.
Dr. Starz praised the vision of Larry Moreland, chief of rheumatology and immunology in the medical school, for overseeing all the arthritis activity within UPMC.
"We're very fortunate here. We have a relationship with Children's Hospital. UPMC has certainly made a tremendous commitment to providing a full spectrum of rheumatologic care.
"It is now clearer the earlier you treat different forms of arthritis, the greater potential for stopping the disease process and stopping the disease damage that can occur."
There are three major types of juvenile rheumatoid arthritis: the polyarticular that Miss Pollak and Ashlyn have affects five or more joints; pauciarticular, or oligoarticular, affects four or fewer joints; and systemic affects both the joints and internal organs. Juvenile rheumatoid arthritis is "idiopathic," which means of unknown cause.
There is no cure, though 25 percent to 50 percent of children go into remission, which is defined as two years without arthritis symptoms and off medication. Patients with systemic or polyarticular arthritis have a poorer prognosis (25 percent remission rate) than patients with pauciarticular (50 percent remission rate), Dr. Rosen said.
Patients in remission continue to be monitored anyway because it is possible for symptoms to recur, he added. A minority of patients have long-term disability, which can result in the need for joint replacements. The risk for an eye inflammation called uveitis is higher in children who are younger, female and have pauciarticular arthritis.
Ms. Pollak is now a freshman at George Washington University who has lobbied congressmen for passage of the Arthritis Prevention, Control and Cure Act. The act calls for more public health initiatives, a database of juvenile arthritis cases to better understand the disease, and expanded training and support for pediatric rheumatologists.
Ms. Pollak expects she will do more lobbying, particularly when she interns this fall for the Arthritis Foundation.
She was about 7 when she had her first symptoms: trouble and discomfort chewing bagels, swollen knee joints, and pain when someone squeezed her hands. She said she was in remission for a few months about a year and a half ago, but when she went off her medication, the arthritis flared up again. She's now on two medications, Humira and Plaquenil, both known as disease-modifying anti-rheumatic drugs, or DMARDs. They've been shown to slow down or prevent joint damage.
Ashlyn's first symptom was a broken right ankle that took too long to heal and swelled when the cast came off. "Then her left knee got somewhat swollen and then her left ankle and the joints in her left foot started to swell as well," said her mother, Julie Connolly.
She was prescribed a corticosteroid short-term, then methotrexate (a traditional DMARD), which, her mother said, apparently did not work in reducing the inflammation. She's now taking Enbrel from a newer class of DMARDs called biologics (Humira and Remicade are two other drugs in this group).
All drugs used in treatment have varying degrees of effectiveness and side effects. A look at a website called clinicaltrials.gov shows that many trials testing or looking for new juvenile arthritis drugs are in progress.
"Nationally, there's a study going to close soon to see if we should treat children with one drug or many at the beginning," Dr. Rosen said. "The reason is that the remission rate is about 25 percent. The trial is to see if we can increase that rate if we start treating with three drugs from the beginning." The 16-site National Institutes of Health study, based at Seattle Children's Hospital, began in 2007.
At Children's of Pittsburgh, meanwhile, the research side of the rheumatology division has in progress two NIH-funded studies on new proteins it discovered, which in turn could lead to new therapies. Assistant professor Margalit Rosenkranz is credited with one discovery and Dr. Hirsch with the other.
Another study in progress at Children's is on a new diagnostic tool called an arthritis imager developed in conjunction with Carnegie Mellon University software engineers and the University of Pittsburgh. "It takes two kinds of pictures; there are two cameras in it," Dr. Hirsch said. "One takes a thermal image showing heat in the joint. The other takes a three-dimensional picture of the hand to show the contours for a search for swelling."
It quantifies the diagnoses rheumatologists now have to make by observation. "It's hard to get agreement among doctors," Dr. Hirsch said.
"It gives us a better sense of whether they're responding to treatments," Dr. Rosen said. "It might allow us to be quicker to change someone's medicine or something like that."
Dr. Hirsch said 100 children and 100 adults are being recruited for the imaging trial. "We think we can conclude the study in about a year."
Children's is also working on a telemedicine program that would allow its farflung patients to go to local hospitals for checkups by their Children's rheumatologists. The goal is to start the system later this year or in 2011.
While doctors and scientists continue their research, patients, families and other supporters will continue to lobby for the Senate and House measures that Ms. Pollak has talked to Sen. Robert Casey and other congressmen about. The bill is not designed to help only patients with juvenile arthritis, but the combined 46 million children and adult patients who have some form of arthritis.