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Rare Disease Day: 1 in 10 People Are Afflicted

Ten years ago, at the age of 44, Liz Gorka was stunned when she was diagnosed with a disease she had never heard of before. Systemic sclerodema is a progressive disorder that causes the hardening of connective tissues and can seriously damage vital organs. As the Mayo Clinic site puts it, “For unknown reasons, the immune system turns against the body . . . Scleroderma has no known cure.”

What’s more, the systemic subcategory of the group of diseases called scleroderma affects only about 100,000 people in this country. “You feel so alone,” Liz says. “Nobody else you know has what you have and there isn’t a lot of research out there.”

Yet as it turned out, Liz’s story didn’t end with the scleroderma. Eight years into her battle with the disorder that was crippling her hands and joints and turning ordinary tasks into a struggle, she suddenly became frighteningly short of breath. This time the diagnosis was pulmonary arterial hypertension, a lung condition that strikes a mere one in a million people and can be fatal. Many of the sufferers are scleroderma patients for reasons the scientific community has yet to pinpoint.

“So then I was even more alone,” Liz says. “My husband is a saint, and after I went on disability from my job as a nurse, he started doing everything around the house when he wasn’t at his job as a paramedic. But I needed to learn from other people who were going through what I was and I was desperate for reliable information. I would go on the Internet and run into sites that would say, like, come to Mexico and we’ll make you all better. I just didn’t know who or what to trust.”

That’s why Liz is a big proponent of Rare Disease Day. February 29th 2012 is the date of the fifth advocacy effort that has the goal of creating public awareness about the 7,000 rare diseases that affect a total of 30 million Americans. Each disease has fewer than 200,000 sufferers and just 200 of the illnesses have approved treatments. People with rare diseases have to fight to get a correct diagnosis and any kind of treatment at all. Also, as Liz pointed out, the rarity of the conditions makes medical research difficult, mostly because of lack of funding. The more common diseases affecting millions of people get priority.

Consequently, Liz took matters into her own hands. “You have to become an active participant in your own medical care,” she maintains. “I found three wonderful doctors after I left one with whom I didn’t feel comfortable. I ask questions and I take my lab test results from one doctor to the other. I never assume anything. And the doctors like that.”

Dr. George Tu, Liz’s pulmonologist in her home city of Las Vegas, agrees. “She makes sure we’re all aware of what’s going on with her case,” he said. “I was able to avoid giving her a continuous IV and instead have her use an inhalation therapy that she mixes herself six times a day. She’s a very compliant patient so I knew she would do what was needed.”