Making a Difference for Kids with Scleroderma

Efforts are underway to improve care for kids with scleroderma, a rare autoimmune disease with devastating impact.

McCoy and Scarlet Penland

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 behaviorsuddenly changed. Typically vibrant and engaging, shebecame tired and emotional, but it wasn’t clear why. Herparents began watching her more closely and noticed thatwhen McCoy slept, she would vigorously scratch her backand trunk.

Their pediatrician told Tara and Chris Penland theirlittle one had eczema, but that just didn’t seem right.

“We knew something was really wrong, but couldn’tsay what,” recalls Tara Penland. “Finally, my mother-in-lawnoticed the tightness of the skin on McCoy’s back whilebathing her.”

A rare, scary disease

It took about eight more weeks and visits to numerousdoctors before the Penlands first heard the word scleroderma,an umbrella term for a rare autoimmune disorder in whichthe immune system mistakenly attacks and destroys healthybody tissue. The inflammation caused by scleroderma resultsin the buildup of scar-like tissue that can damage cells in theskin and internal organs and line the walls of the small arteries.The disease’s effect on an individual ranges drastically, andMcCoy was experiencing the worst – a quickly advancingcase 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 pediatriciansnever see it and don’t recognize the early symptoms,” notesSeattle Children’s Dr. Anne Stevens, one of only a handfulof pediatric rheumatologists in the U.S. who researchesand treats scleroderma. “The scarring causes irreversibledamage. Once it’s done, there’s not much you can do, soearly diagnosis and treatment matter.”

Rheumatic diseases – like rheumatoid arthritis, lupusand scleroderma – are rare in general and rarer still amongchildren. As a result, there is little information about howbest to treat these diseases in the medical literature. Doctorsand researchers at Seattle Children’s are helping change that.

Creating consensus about what works

Anne Stevens

Of the 300 or so pediatric
rheumatologists in the U.S.,
Dr. Anne Stevens isone of
only three leading studies in
juvenile scleroderma. “As a
researcher,there are a million
diseases to focus on. I choose
scleroderma because it’sso
hard on our patients and there’s
so much we still don’t know
about howto treat it.”

In 2002, Children’s Dr. Carol Wallace helped found theChildhood Arthritis and Rheumatology Research Alliance (CARRA), a national research network of pediatricrheumatologists and healthcare professionals dedicatedto identifying treatments that work best, are safest andhave the least side effects.

This year, Stevens and Children’s rheumatology fellowDr. Katie Moore are working to convene a CARRA subgroupto scientifically compare treatment approaches to preventingthe damage caused by juvenile systemic scleroderma – therarest and most debilitating form of scleroderma.

“Developing consensus treatment plans is an excitingway to improve our understanding of what works and whatdoesn’t – especially since there aren’t enough youngpatients with scleroderma to run clinical trials,” explainsStevens. “When we start this process, there may be 50 or 60approaches to treating the disease. We’ll narrow it down tojust three and collect data about how the treatments work ina shared CARRA registry. Over time, we can gather enoughdata to identify which works best, and then compare thatto some others.”

Other paths to progress

Gretchen Henstorf

As the research associate,
Gretchen Henstorf is the link
between the clinicand 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 childrenwith systemic sclerosis at Seattle Children’s over the past 30 yearsshowing that early diagnosis and intensive treatment withchemotherapy and steroids for several years inducesremission and stops damage to the body.

The use of biologic medicines like Rituximab (which targetsreceptors of the specific cells that cause the inflammation)is another promising development. In fact, adding Rituximabto McCoy’s treatment plan in August 2012 helped her turnthe corner.

“McCoy’s chemotherapy was destroying her immunesystem,” Stevens recalls. “I read about a small group of adultstreated with Rituximab who actually improved. That’s a bigdeal when the most we usually hope for is that the damagedoesn’t get worse.”

Since beginning Rituximab about a year ago, McCoy,now 7, can once again make a fist, open her mouth bigenough to fit a regular size spoon, walk up the stairs withoutgetting tired and stand up straight. The skin on her trunk hasalmost 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 andworse, and there’s so much we don’t know about how totreat it yet,” reflects Stevens. “Together, our research groupcan change that.”

Published in Connection magazine, April 2014