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Scleroderma
At first, Emily Nitz Woods's symptoms didn't seem serious. Her rings didn't fit because her hands were a little swollen. So were her ankles. Then she noticed something strange: Sometimes her hands would turn blue or purple and briefly stiffen as if she had frostbite. She consulted one doctor, who thought it might be an allergic reaction, then another, but neither was able to give her a diagnosis. Meanwhile, Emily, who'd been riding in horse shows since she was five, continued to compete and placed in the top ten for a national event.But her hands were still giving her problems, and soon she couldn't control the reins like she used to. A rheumatologist finally solved the mystery in 1999 through careful analysis of her symptoms, medical history and a blood test for certain antibodies: She had scleroderma, a chronic autoimmune disorder. The then-29-year-old mom from Plano, Texas, didn't know how to react. She'd never heard of the disease, which affects an estimated 300,000 Americans, mostly women.
No one knows what causes scleroderma, but experts believe it's the result of the immune system triggering the body to produce too much collagen, a protein found in connective tissues. Theories to explain the gender disparity include links to hormones, differences in inflammatory response or fetal cells from previous pregnancies. There are two main forms of the disease, and Emily had the more serious, which attacks not only skin but also blood vessels, joints and internal organs, including the heart, lungs and kidneys. Due to the dangerous complications, about 50 percent of people with this type die within five years of diagnosis.
"That was very scary to learn," says Emily, "but I told myself it wasn't going to happen to me."
For two years after the diagnosis, Emily's energy ebbed and her hands grew increasingly swollen and stiff. She was forced to give up riding, which was very hard for her: "Showing and competing were the passions I lived for." Her doctor prescribed several medications for her swelling and pain. Emily also tried acupuncture and Chinese herbs. Nothing brought complete relief, but for a time she was able to continue her advertising job.
In early 2002, she married her boss, Kevin Woods, and in September their daughter, Emma Alexandra, was born. She was six weeks early but in perfect health: a five-and-a-half-pound beauty with big brown eyes and a full head of silky hair. "Emma was such a good baby, I could take her anywhere," says Emily, who settled into life as a stay-at-home mom. "Everyone told me how lucky I was." She was glad to learn that scleroderma is not passed on from parent to child.
But Emily's luck didn't last. In 2003, the disease scarred her lungs, leaving her too short of breath to push a stroller very far. Joints all over her body became painfully stiff, severely restricting her range of motion. Emily and Kevin had to hire a full-time nanny to look after Emma.
By January 2004, Emily was so disabled, she couldn't drive a car, dress or feed herself, or walk more than 15 feet. To add to her misery, her marriage fell apart, for reasons unrelated to her illness. She and Emma moved to a ground-floor apartment, since Emily was unable to climb even a single step. Friends, relatives and members of her church came in shifts to help, while the nanny looked after Emma, then 16 months. "I could feel my body starting to shut down, and I realized I was dying," Emily says.
That's when a friend sent her an article about a risky treatment that might help: a stem cell transplant, using the person's own stem cells. A machine extracts the cells, which are frozen until needed, from the blood. The patient is then given high-dose chemotherapy to kill the faulty immune system that causes the disease. The hope is that by then transplanting the stored stem cells, which have the unique ability to become other types of blood cells, the patient will generate a new immune system -- one that won't attack the body. While the infection fighters are being produced, a process that usually takes eight to ten days, the patient is dangerously defenseless against germs. Complications can include infections, lung congestion, liver disease, kidney failure and heart problems. Because of the hazards, transplants are given only to patients who are at high risk of dying in the next five years but aren't too ill to tolerate the rigors of treatment.
At the time, about 30 Americans with scleroderma had undergone stem cell transplants, and three of them died of complications. To reduce dangerous side effects, doctors at Northwestern Memorial Hospital in Chicago were testing a stem cell transplant they hoped would be less toxic because it doesn't use radiation. However, their method was then so new, they'd treated only five patients in a clinical trial. While there had been no treatment-related deaths, researchers were still evaluating the results.
Still, Emily felt hope bubble up. "It sounded like the answer to my prayers. None of the safer options were helping, so I knew I had to do something drastic or Emma would grow up without a mother." Although the doctors were willing to accept Emily, her health plan refused to cover the $75,000 cost because the treatment was considered experimental. After two appeals failed, her parents, Don and Joanne Nitz, who breed show horses in Holland, Michigan, took a second mortgage on their home to help pay for the transplant.
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