Toddler with juvenile arthritis has no more “boo boos”
It started with a cry in the middle of the night, and weeks later, Gerianne Carillo and Marion Mossman knew everything there was to know about juvenile arthritis.
They’d met with David Siegel, M.D., M.P.H., chief of the Division of Pediatric Rheumatology at UR Medicine’s Golisano Children’s Hospital. They’d connected with the Arthritis Foundation. They’d even planned a trip to an annual juvenile arthritis conference.
But all the knowledge in the world didn’t change the fact that their 2-year-old daughter Carly wasn’t getting any better.
“It was progressing so quickly, and it all seemed out of control. The medication wasn’t working — it was just adding side effects to her symptoms,” said Carillo. “It became overwhelming for us, and very painful for her. The outcome looked really bleak.”
At 18 months old, Carly suddenly stopped using her right wrist. She could walk, but began to prefer crawling. Her parents were concerned, but an early trip to the doctor revealed nothing.
It wasn’t until Carly woke up in the middle of the night screaming in pain that they knew it was time to seek further counsel.
“She pointed to her wrist and said ‘Boo boo,’ and that was pretty significant — she was never a kid that complained about anything,” said Mossman. “So Carly was the one who really began to tell us something was wrong.”
Carly’s pediatrician ordered blood tests, and the results showed that Carly might have juvenile arthritis.
After doing some research, Mossman and Carillo got in touch with Golisano Children’s Hospital. Their home in Milford was nearly four hours away from Rochester, but Mossman and Carillo decided to bypass other more local options in favor of meeting with Siegel. It wasn’t long before they realized that the long drive was well worth it.
“He knew we were nervous and scared when we were sitting in his office, but his presence was very calming,” said Carillo. “He was able to very clearly outline courses of action that were possible for us, and he gave us an outline of what it might look like so it didn’t feel like we were running blind.”
One of the first treatments was methotrexate, a drug that is often prescribed to combat autoimmune diseases, such as juvenile arthritis.
But Carly’s condition continued to worsen. She was crawling up and down the stairs, instead of walking. She couldn’t grip the toys that she used to play with or hold a book – reading was her favorite thing to do. Even chewing was painful at times.
“It went from one or two joints to affecting everything: her toes, her ankle, her knees, wrist, spine, neck, jaw,” said Mossman. “It progressed so fast that the medicine couldn’t keep up. And the side effects — the nausea, the pain — it was all just devastating.”
For Carillo, who works as a physical therapist, the early challenges were especially troubling. As a provider who often works with arthritic patients, she was fully aware of the damage that the disease can cause.
“When the first line of medication didn’t seem to work at all, for me, that was probably the hardest part of the road,” said Carillo.
A more aggressive treatment
It was becoming clear to both Siegel and Carly’s parents that the methotrexate wasn’t going to be enough.
“At that point, we said we need to bump her treatment up a little bit — to really try and stop it in its tracks,” said Siegel.
Siegel turned to Enbrel, a drug that had only recently been approved for use in a child Carly’s age. Carly’s parents learned how to administer the injections themselves, but Carly wasn’t thrilled with the notion of getting a shot every week. So her parents began giving her an iPad to play with to take her mind off the shot.
After just three weeks on Enbrel, her parents started to notice a difference.
“She was freer, she was more flexible. We were seeing significant results,” said Carillo.
Carly continued to see Siegel every three months. She’d always bring along her iPad to show off videos of the things she’d been doing — walking up the stairs, playing with her toys.
She stayed on Enbrel for more than a year, and every examination showed a little less inflammation in her joints.
“The very last limitation was in her neck, but a year or so ago, Dr. Siegel was finally able to say that she has full range of motion in all of her joints,” said Carillo. “Another year later, he said ‘Voila! She doesn’t have any sign of arthritis in her at all.”
Mossman and Carillo realize that the arthritis could come back. But they know that Carly was one of the lucky ones — many youngsters with juvenile arthritis don’t make full recoveries.
“I think one of the contributing factors was that her arthritis was caught so early,” said Mossman. “Even though it progressed very fast, it was diagnosed so quickly, and Dr. Siegel stepped in with aggressive treatment so fast that he was able to save her joints.”
Said Carillo: “It feels like a miracle.”