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The Journal Gazette


  • Cathie Rowand | The Journal Gazette
    Canterbury seventh-graders tour Parkview’s medical simulation lab after attending the Rare Disease Day conference on Monday.
March 01, 2016 1:03 AM

Rare diseases lacking adequate research

Frank Gray

When Thomas Corron found himself with fading energy, he decided he was just out of shape. But exercise did no good.

When he told his doctor about his lack of energy, getting out of breath climbing stairs, he was told he was just getting old.

It took three different doctors and seven years for Corron to be properly diagnosed as suffering from Alpha-1 Antitrypsin Deficiency, and by then he was 49 years old and had lost half his lung capacity.

It all happened because Alpha-1, a genetic disorder, is what is called a rare disease. An enzyme that protects the lungs is never released by the liver. Only one in 2,500 people has it and only 1 in 10 people with the condition is properly diagnosed, Corron says.

One could blame his doctors, but there are at least 7,000 diseases out there that are so rare they are often misdiagnosed and for which there are limited or no treatments.

Monday, a rare day, Feb. 29, was also deemed Rare Disease Day, and Corron was able to tell his story at the Parkview Mirro Center for Research and Innovation. He called for education so people with the disease can spot it before their lungs are destroyed. And Corron called for more research toward treatments or a cure.

There were representatives of plenty of rare diseases at the conference Monday. There was Cheri Bearman of Hoagland. She has ataxia, which damages the nervous system. “Most doctors have never heard of it,” she said. Diagnosis, she said, is a long process, and if you do find out you have the disease, there’s nothing you can do about it, she said.

One of the biggest problems with rare diseases stems from rules governing medical research, said Dr. Michael Mirro, who spoke at the conference.

When researchers conduct trials to test new treatments they need 15,000 to 20,000 people willing to take part in a double-blind study, Mirro said.

“In a rare disease, there’s no way,” Mirro said. There might be only 20 to 50 patients in the entire state, he said. “We’d need to get every patient with the disease” to conduct a study.

“The FDA has been unrealistic with pressure put on rare disease doctors,” Mirro said. “The new FDA commissioner understands that.”

The various rare diseases have their own advocacy groups, raising money for research and so on. “If they work together they can change state and federal laws,” Mirro said.

In an address to the gathering, Mirro repeated that because of a lack of patients, people suffering from rare diseases are denied access to new therapies. “How do you serve the underserved who have no access to treatment for horrific diseases?”

Frank Gray reflects on his and others’ experiences in columns published Sunday, Tuesday and Thursday. He can be reached by phone at 461-8376, fax at 461-8893, or email at fgray@jg.net. You can also follow him on Twitter @FrankGrayJG.