Making a Difference for Kids with Scleroderma
Efforts are underway to improve care for kids with scleroderma, a rare autoimmune disease with devastating impact.
As scleroderma sapped her energy and constrained her movement, frolicking at full tilt with younger sister Scarlet seemed out of the cards for McCoy Penland (left), now 7. About a year after her medical team introduced a new biologic medicine called Rituximab, the little girl can once again stand up straight, make a fist and walk up stairs without tiring.
McCoy Penland of Boise, Idaho, was just 4 when her behavior suddenly changed. Typically vibrant and engaging, she became tired and emotional, but it wasn’t clear why. Her parents began watching her more closely and noticed that when McCoy slept, she would vigorously scratch her back and trunk.
Their pediatrician told Tara and Chris Penland their little one had eczema, but that just didn’t seem right.
“We knew something was really wrong, but couldn’t say what,” recalls Tara Penland. “Finally, my mother-in-law noticed the tightness of the skin on McCoy’s back while bathing her.”
A rare, scary disease
It took about eight more weeks and visits to numerous doctors before the Penlands first heard the word scleroderma, an umbrella term for a rare autoimmune disorder in which the immune system mistakenly attacks and destroys healthy body tissue. The inflammation caused by scleroderma results in the buildup of scar-like tissue that can damage cells in the skin and internal organs and line the walls of the small arteries. The disease’s effect on an individual ranges drastically, and McCoy was experiencing the worst – a quickly advancing case of juvenile scleroderma. Within three short months from the onset of symptoms the little girl couldn’t make a fist, stand up straight or raise her hands over her head.
The incidence of juvenile systemic scleroderma is 1 in 2 million.
“It’s a very rare, very scary disease. Most pediatricians never see it and don’t recognize the early symptoms,” notes Seattle Children’s Dr. Anne Stevens, one of only a handful of pediatric rheumatologists in the U.S. who researches and treats scleroderma. “The scarring causes irreversible damage. Once it’s done, there’s not much you can do, so early diagnosis and treatment matter.”
Rheumatic diseases – like rheumatoid arthritis, lupus and scleroderma – are rare in general and rarer still among children. As a result, there is little information about how best to treat these diseases in the medical literature. Doctors and researchers at Seattle Children’s are helping change that.
Creating consensus about what works
Of the 300 or so pediatric rheumatologists in the U.S.,
Dr. Anne Stevens is one of only three leading studies in juvenile scleroderma. “As a researcher,there are a million diseases to focus on. I choose scleroderma because it’s so hard on our patients and there’s so much we still don’t know about how to treat it.”
In 2002, Children’s Dr. Carol Wallace helped found the Childhood Arthritis and Rheumatology Research Alliance (CARRA), a national research network of pediatric rheumatologists and healthcare professionals dedicated to identifying treatments that work best, are safest and have the least side effects.
This year, Stevens and Children’s rheumatology fellow Dr. Katie Moore are working to convene a CARRA subgroup to scientifically compare treatment approaches to preventing the damage caused by juvenile systemic scleroderma – therarest and most debilitating form of scleroderma.
“Developing consensus treatment plans is an exciting way to improve our understanding of what works and what doesn’t – especially since there aren’t enough young patients with scleroderma to run clinical trials,” explains Stevens. “When we start this process, there may be 50 or 60 approaches to treating the disease. We’ll narrow it down to just three and collect data about how the treatments work in a shared CARRA registry. Over time, we can gather enough data to identify which works best, and then compare that to some others.”
Other paths to progress
As the research associate, Gretchen Henstorf is the link between the clinic and the lab for scleroderma studies. She talks to families about the studies, answers their questions, and transports blood specimens.
Stevens will soon publish a review of outcomes for children with systemic sclerosis at Seattle Children’s over the past 30 years showing that early diagnosis and intensive treatment with chemotherapy and steroids for several years induces remission and stops damage to the body.
The use of biologic medicines like Rituximab (which targets receptors of the specific cells that cause the inflammation) is another promising development. In fact, adding Rituximab to McCoy’s treatment plan in August 2012 helped her turn the corner.
“McCoy’s chemotherapy was destroying her immune system,” Stevens recalls. “I read about a small group of adults treated with Rituximab who actually improved. That’s a big deal when the most we usually hope for is that the damage doesn’t get worse.”
Since beginning Rituximab about a year ago, McCoy, now 7, can once again make a fist, open her mouth big enough to fit a regular size spoon, walk up the stairs without getting tired and stand up straight. The skin on her trunk has almost returned to normal.
“As a researcher, there are a million diseases to focus on. I choose scleroderma because it’s so hard on our patients. They have this lifelong disease that’s going to get worse and worse, and there’s so much we don’t know about how to treat it yet,” reflects Stevens. “Together, our research group can change that.”
Published in Connection magazine, April 2014