“She was fine on a Thursday. But when she woke up on a Friday her legs didn’t function the way they did before,” recalls Gina Gorisek.
Suddenly, just 6 months ago, 2 year old Isabella, an active toddler, could no longer stand. She’d cry every time her mother, Gina, tried to help her stand or walk. After a battery of tests, Isabella was diagnosed with juvenile rheumatoid arthritis.

“Your natural reaction is to ask what do we do and what does this mean long term, will she grow out of it, will it be debilitating?” says Gina.
Juvenile rheumatoid arthritis which can cause severe joint inflammation and stiffness, affects about one in a thousand children. It can be devastating for a child. Limping, the inability to walk, limited flexibility and severe pain in the eyes are just some of the challenges faced in the treatment of juvenile rheumatoid arthritis. Not only is juvenile rheumatoid arthritis often misdiagnosed, it’s thought of as an adult disease.
“Children are still growing, so their muscular skeletal system is developing. If juvenile rheumatoid arthritis is not recognized quickly and treated, children end up with alterations in the growth of limbs,” says Dr. Raphael Hirsch of Children’s Hospital of Pittsburgh.
Researchers at Children’s Hospital of Pittsburgh are working on developing a treatment that attacks the root of juvenile rheumatoid arthritis- the defective genes causing the disease.
According to Dr. Hirsch, “We are trying to identify the genes and the proteins that are involved in these diseases.”
Gene analysis has already led to the discovery of several genes that appear to be involved in the destruction of the joint itself. The goal right now for researchers, is to develop a drug that will block the bad gene’s function.
“The idea is that if you could deliver it just to the tissue that needs it and leave the rest of the body alone, you’d have less potential side effects,” says Dr. Hirsch.
According to pediatric rheumatologist Dr. Raphael Hirsch, up until 10 years ago aspirin and Motrin were virtually the only medicines available in the treatment of juvenile rheumatoid arthritis. But while the gene therapies are still several years away from being developed, there are finally some adequate treatments for juvenile rheumatoid arthritis available now.
“About two-thirds of patients can control their disease quite well with drugs such as methotrexate, and a newer generation of what we call the biologic agents, which are anti-inflammatory factor drugs,” says Dr. Hirsch.
Thanks to intensive physical therapy and a regimen of medications, Isabella has now resumed her toddler activities.
“She’s actually doing great. We’ve come a long way,” says Gina.
Dr. Hirsch is also studying the fluid found in the joints, along with tissue from patients, by using gene therapy. This research will be a 5 year project. With a better understanding of the fluid and tissue, researchers hope to improve accuracy of treatment of juvenile rheumatoid arthritis.

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