Progress in treating juvenile arthritis here

Three-year-old Meghan O'Donnell stood up and screamed in agony, seemingly out of the blue. Her parents noticed that her right ankle was swollen.

Doctors at the community hospital put the ankle in a cast, concluding that it was broken. But when the cast was removed three weeks later, the toddler's pain and swelling were no better.

That led to blood tests, bone scans, MRIs and much more. At the end of the six-week diagnostic odyssey, the words "juvenile idiopathic arthritis" left them reeling.

"It was just overwhelming and scary," recalled Meghan's mother, Viktoria O'Donnell, 40, of Doylestown.

The good news is that Meghan responded well to an aggressive treatment regimen prescribed at Children's Hospital of Philadelphia.

Now 8, the shy but spunky about-to-be-third-grader and her mother joined nearly 1,000 children, parents and clinicians at the Arthritis Foundation's annual Juvenile Arthritis conference earlier this month.

"The foundation has given us the opportunity to have a voice, to share our story," said O'Donnell, who has lobbied in Washington for research funding. "It's so empowering. And at the conferences, the kids get to see 'there are other kids like me.' "

The conferences combine fun, games, and moral support with seminars on treatment, nutrition, finances, mental health, and young adult challenges.

"This is a very complex issue for the entire family to deal with," Ann Palmer, foundation president and CEO, said in her welcoming remarks. "The Arthritis Foundation is committed to fighting for families every day."

As the foundation's website explains, juvenile arthritis "is not simply a pint-size replica of the condition that affects adults. In fact, only about 10 percent of children have a disease that closely mirrors rheumatoid arthritis in adults."

Juvenile arthritis is actually an umbrella term for a lengthy list of childhood diseases in which immune cells attack the joints, muscles, bones and sometimes other organs. Megan, for example, has had eye inflammation, called uveitis, that can cause glaucoma, cataracts, and permanent vision loss if left untreated. Six weeks of steroid eye drops and now, monthly infusions of infliximab (brand name Remicade) have brought it under control.

Some forms of juvenile arthritis are rare, such as juvenile scleroderma and Kawasaki disease. But taken together, these autoimmune disorders afflict an estimated 300,000 kids in America, including 1,500 in Pennsylvania.

While the causes remain unclear, medical science has made huge progress in understanding and arresting the underlying disease process, Children's Hospital pediatric rheumatologist Edward M. Behrens said during his session.

His slide show began with black-and-white photos from early last century of three emaciated, crippled youngsters.

"We don't see children like that anymore," Behrens said.

The first big breakthrough in treatment was the discovery around 1930 of cortisone, an anti-inflammatory steroid hormone. The researchers were awarded the 1950 Nobel Prize in medicine. But it became clear that chronic use of what seemed like a miracle cure had serious side effects, including glaucoma, diabetes, and osteoporosis.

The next big advance, around 1980, was the anticancer drug methotrexate, which is still a staple of arthritis treatment. By interfering with immune cell division, methotrexate not only decreases pain and swelling, but also reduces joint damage.

With the new millennium came the era of "biologic" drugs - medications that mimic natural proteins produced by the body, precisely targeting molecular changes involved in inflammation. Since the 2000 approval of the first biologic, etanercept (brand name Enbrel), about 10 more have come to market.

Many obstacles persist, the experts said. Families in rural areas struggle to access a pediatric rheumatologist. Some children don't respond adequately to available treatments. The drugs are costly and can have serious side effects.

But remissions and even the occasional cure are possible, Behrens said. Major research networks, such as the Childhood Arthritis and Rheumatology Research Alliance, are working to find the best combinations of therapies.

"The future looks even brighter," Behrens said. "I'm looking forward to improved quality of life for my patients and, yes, someday even a cure."

mmccullough@phillynews.com
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