Rare Disease Day: 1 in 10 People Are Afflicted

By Sondra Forsyth

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.”

Liz chimes in with her musical laugh and adds, “I’m on 13 medications and I take all of them as prescribed. I want to do the best I can with the diseases I have.” Now 54 with a grown son and daughter and five grandchildren, Liz is determined to keep on living as well as possible with the hand she’s been dealt.

“Oh sure, Phil and I sat down and went over all the financial stuff and made a will so I would know he could take care of himself if anything happened to me,” she says. “But I don’t think about that every day when I get up. I have devices, like to zip my clothes and pick up stuff and I have a knob on my steering wheel so I can still drive. I go to the library so often they all know me there by now. I especially love spy thrillers. I just finished ‘Dance with the Dragon’ by David Hagberg.”

Liz clearly isn’t letting her diseases keep her from living a life she loves in spite of her limitations. In fact last August when her daughter got married in Idaho, Liz and Phil made the trip by car from Nevada in two days. “We could have done it in one except that we needed to stop a lot so I could mix my medication without spilling it and get out and stretch my sore joints,” she says. “I didn’t want to fly and have to go through security. I have an oxygen tank that I need sometimes and I have all those medications. I figured a beautiful road trip was a better option. When we got there, though, Phil had to push me up a mountain trail in a wheelchair. But it was worth it. The site overlooked a lake and the wedding was absolutely magical. That was one of the times when I knew for sure that although my diseases have been life-changing, they will never have the power to take the joy out of my life.”

If you would like to know more about rare diseases and about patients like Liz who face them with courage and a can-do attitude, visit the global Rare Disease Day website at rarediseaseday.org. You’ll learn what’s happening all around the world on this occasion dedicated to finding treatments and even cures for maladies that still remain frustratingly mysterious in origin and yet are all too real in how they affect those who have them.