Lilliane Grahek was just 2 years old when the first blotch appeared.
The spot on her stomach looked like a bruise, her fair skin turning a darker shade. The spot didn’t go away quickly, and then Lilliane’s mom, Kerin Clark Severson, noticed another spot forming.
Clark Severson took Lilliane to her pediatrician, who determined the spots weren’t bruises but couldn’t explain them. After a few more visits for new spots appearing in the following six months, the pediatrician referred Lilliane to a dermatologist at Doernbecher Children’s Hospital in Portland.
“He knew right away,” Clark Severson said.
Two-year-old Lilliane was diagnosed with scleroderma, a rare disease that involves the hardening and tightening of the skin and connective tissues.
Typically, scleroderma runs its course in three to five years, Clark Severson said. Lilliane, now 12, wasn’t so lucky.
“Unfortunately, it’s been 10 years, and hers is still active,” Severson said.
In those 10 years, Lilliane has developed numerous patches of tight, darkened skin all over her left arm and leg, stomach and back. And, because Lilliane’s scleroderma is active deep within her muscles, she’s also experienced physical problems as her body grows. Her left leg is smaller in circumference and length than her right leg. The left side of her bottom also has a flattened appearance, the result of a lack of tissue and muscle on that side.
“Because she’s still growing, it’s pretty much strangled the muscles from expanding,” Clark Severson said.
Understanding the disease
In some people, scleroderma affects only the skin, but in many people, it also harms internal organs, blood vessels and the digestive tract, according to the Mayo Clinic.
An estimated 300,000 Americans have scleroderma, according to the Scleroderma Foundation. The exact cause or causes of scleroderma are still unknown, but researchers know it involves an overproduction of collagen. There is no cure.
Scleroderma can develop at any age, but its onset is most frequent between the ages of 25 and 55, according to the Mayo Clinic.
There are two major classifications of scleroderma: localized and systemic.
Lilliane was diagnosed with localized scleroderma.
With localized scleroderma, changes are usually found in only a few places on the skin or muscles and rarely spread elsewhere. Generally, localized scleroderma is relatively mild and doesn’t affect internal organs, according to the Scleroderma Foundation.
With systemic scleroderma, the changes may affect the connective tissue in many parts of the body, including the skin, esophagus, gastrointestinal tract, lungs, kidneys, heart and other internal organs. The tissues of involved organs become hard and fibrous, causing them to function less effectively, according to the foundation.
Active disease
When the disease first becomes active, spots typically appear as red marks on the skin before turning brown, giving the appearance of a birthmark or burn scar. The darkened skin is smooth and looks as though it’s stretched tight.
While the disease has mostly affected the left side of Lilliane’s body, spots have recently appeared on her right arm and leg. The progression prompted the Vancouver family to seek medication to slow the disease. She began treatment five weeks ago.
“It won’t correct any of the damage that’s already done,” Clark Severson said. “It’s just supposed to hopefully slow it down.”
Lilliane used another drug when she was 5. After a couple of years on the drug, though, Clark Severson made the decision to take her off the medication. The drug made Lilliane extremely tired; all she wanted to do was sleep, Clark Severson said.
“For a 5-year-old, it breaks your heart,” Clark Severson said.
The medication appeared to have worked, though. Three or four years passed before new spots began appearing on Lilliane’s skin. Unfortunately, the disease appears to have returned more aggressively, Clark Severson said.
Lilliane has since had two surgeries — one on her leg, the other on her toe — to loosen ligaments and allow her leg and toe to straighten. She also recently got a shoe implant that not only serves as a lift for her shorter leg but also as a cushion, because the tissue on her left heel is thin.
“Hopefully, the drugs work,” Clark Severson said. “If they don’t, there’s no cure for this.”
Finding a cure
Since Lilliane’s diagnosis, Clark Severson has tried to learn as much as she can about the disease.
The family has also gotten involved with the Scleroderma Foundation’s Oregon Chapter, which also serves Southwest Washington. They’ve participated about six times in the foundation’s annual fundraiser walk, and about a year and a half ago, Clark Severson became a member of the chapter’s board.
This summer, Clark Severson and Lilliane traveled to Anaheim, Calif., for a national conference about scleroderma. And in August, Clark Severson and her husband, Rick Severson, hosted a car show fundraiser for the nonprofit.
All of the efforts have been focused on raising awareness for an understudied disease and finding a cure for Lilliane and others living with scleroderma, Clark Severson said.
“I’ve taken it upon myself that I want to find her a cure,” she said.
