Bound yet Determined
The onset of symptoms was so rapid it was frightening, and they didn’t resemble anything Shannon Abert had ever heard of.
In the fall of 2002, Abert was an active, 35-year-old high school teacher who worked out five days a week. Suddenly, her hands couldn’t support the weights she lifted every day. She lightened the poundage she lifted at the gym, but her hands continued to hurt, and then began turning purple.
She went to a health clinic which diagnosed her with carpal tunnel syndrome. Soon after, Abert developed ulcers on her hands. Over the Christmas break, she went to her family doctor, who immediately suspected lupus, an autoimmune disease, and sent her to a rheumatologist.
It wasn’t lupus. Abert was diagnosed with scleroderma, a chronic, progressive disease of the connective tissue. It manifests most often as a hardening and tightening of the skin from runaway overproduction of collagen—fibers that make up the framework and support structures of the body. In fact, scleroderma is Greek for “hard skin.” The disease also can attack internal organs and blood vessels, causing them to harden and constrict, binding them down beyond function.
“Epidemiologists estimate that about 300,000 people in the United States have some form of scleroderma,” says Maureen Mayes, MD, a professor of rheumatology at The University of Texas Medical School at Houston. “The disease affects everyone differently. Some people have a milder form called morphea, which affects small, isolated portions of the skin and doesn’t damage the internal organs. Others have a systemic form of scleroderma that affects both the skin and the internal systems,” she explains. Even the systemic form can vary in severity, with some individuals having a mild form that does not worsen over time.
“For some, though, scleroderma can gradually cause organs to shut down and eventually become life-threatening,” Mayes says.
Mayes is the principal investigator for the Scleroderma Registry and DNA Repository, which aims to identify the genetic pathways that cause scleroderma and determine its severity. The registry also provides genetic material to other investigators who are studying the disease nationwide.
“Scleroderma isn’t contagious or infectious, and so far researchers haven’t identified the inherited susceptibility factors, either,” says Mayes. “We are currently conducting laboratory research, however, to look for genetic markers that indicate if a person is susceptible to developing scleroderma, as well as markers that determine the disease’s severity. If we can isolate the genetic pathways that cause scleroderma, we can then concentrate on developing treatments that target those genes.”
Different cases, different outcomes
While scleroderma seldom runs in families, Abert’s family has been badly affected by the disease. In November 2005, while she was dealing with her own illness, Abert’s 63 year-old father was diagnosed with scleroderma that was already attacking his heart and kidneys. Just four months later, he died.
“Before he passed away, my father contributed material to the DNA registry, as did my mother and my sister,” Abert says. “I also contributed. It was frightening to lose my father so quickly to the disease, but I have to remember that it affects everyone differently. Some people in my support group were diagnosed 25 years ago and are still fine; others are diagnosed and die six months later.”
Abert’s disease has largely confined itself to her skin, the body’s largest organ, and her esophagus, with little internal organ involvement. She spent much of 2004 in the hospital because her skin actually became too small for her skeleton. Pins were implanted in her hands so that her shrinking skin couldn’t tighten them into fists. Intravenous antibiotics were administered for the open wounds that occurred when her skin broke.
Today, Abert tries to control her symptoms with medication. She takes Prednisone, a steroidal anti-inflammatory, to inhibit her immune system. It is the immune system’s job to respond to an insult and the response is often inflammation. She also takes an anti-inflammatory drug to control acid reflux, a common side effect of scleroderma.
Working toward answers
Abert’s condition forced her to quit teaching in 2004, but she is active in charity work now, from the Houston Livestock Show and Rodeo to the Texas chapter of the Scleroderma Foundation. She also is planning the Sixth Annual Houston/Conroe Stepping Out to Cure Scleroderma 5K Walk, which takes place Saturday, April 27.
“It’s a great family event, with face painting, balloon animals, games, door prizes and wonderful free food,” says Abert. “The event is a walk, because a lot of patients try to participate, but if you want to run it, go for it! In fact, Dr. Mayes is usually runner number one!”
Her experience with scleroderma may also be leading Abert to a new career path. She is currently completing coursework online through the University of Houston to earn a master’s degree in counseling.
“I want to help others who are given a life-changing medical diagnosis,” she says. “Your whole life can change in a moment, and that can be hard to deal with. I think my experiences can help me understand what others are going through.”