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
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
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 – the
rarest 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
“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