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Rare disease patients urged to aid research, 'become experts' in own conditions

By McKenzie Romero | Posted - Mar 1st, 2014 @ 9:12pm

SALT LAKE CITY — For Utah families battling rare diseases, one disease will always be the most important: their own.

"It's not rare to me, because it's my disease," said Steve Mikita, the longest living survivor of spinal muscular atrophy. "It's the most important disease to me, just like your disease or your child's disease is the most important disease in their lives and in your lives."

Mikita, a Salt Lake City resident, wasn't supposed to live past age 2. He is now 58. He joined a small crowd of families and physicians at the Utah Capitol on Friday for Rare Disease Day, a chance to share common experiences and raise awareness.

About 40 representatives from national advocacy and research organizations, physicians and rare disease patients gathered in the Hall of Governors for Friday's event, the first of its kind in Utah. Speakers called for continued research to help patients across the nation.

As he recounted his experience learning to communicate with doctors, researchers and expert advocates, Mikita urged those living with rare diseases to "become experts" in their own conditions.

"They do not understand our disease as well as we do," Mikita said. "We're not objects of pity anymore. We're seen by pharmaceutical companies, by the government and by the Food and Drug Administration as invaluable, active partners in the drug development process."

There are about 7,000 diseases classified as rare in the United States, many of which affect only 200 to 300 people, according to Paul Melmeyer, assistant public policy director with the National Organization for Rare Disorders. Diagnosing rare diseases can take between five and 10 years, which is followed by the difficult and expensive process of finding specialized physicians or treatment centers.

Robert Selliah, founder of the American MedChem nonprofit corporation, helped organize the event at the Capitol, one of 13 statehouse events happening Friday. Like other presenters, Selliah urged families facing rare diseases to band together and support drug discovery research, an area where he says funding is waning.

Utah mothers on the panel talked about new medicines that saved the lives of their young children.

Susan Wiet, a Salt Lake City resident and physician, held up a picture of her daughter Stella, a smiling blonde 3-year-old, taken the day before she was hospitalized with severe anemia. Stella was later diagnosed with neuroblastoma, a solid, cancerous mass affecting about 700 American children each year.

Following six rounds of chemotherapy, surgeries and bone marrow transplants, Stella was given an antibody that had been released early from clinical trials because of the "incredible survival rate" of children with neuroblastoma. The treatment required a long battle with insurance companies but saved Stella's life, Wiet said.

"Here she is today, a survivor," Wiet said, holding up another photo of her grinning daughter.

Stella is now 7 years old. She was told in August there has been no resurgence of her cancer, and there likely never will be.

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