Government urged to ease financial burden on patients with rare diseases

Hospitals should improve their efficiency in screening for rare diseases, and the government should work to lower the financial burden faced by sufferers, said doctors and leaders of social organizations. 

The genetics branch of the Chinese Medical Association defined a disease that has an incidence rate lower than one in 10,000 among newborn babies, and a prevalence rate lower than one in every 500,000 people as a rare disease in China.

"Right now there are 5,781 kinds of rare diseases diagnosed around the world, and about 44 percent of rare disease patients have been misdiagnosed," Li Dingguo, chairman of the rare disease branch of Shanghai Medical Association, said on Rare Disease Day, which fell on Thursday.

"It is estimated that there are more than 10 million people carrying rare diseases in China," said Ding Jie, chairman of the rare disease branch of the Beijing Medical Association.

She also said that many people with rare diseases in China have gone undiagnosed due to doctors' lack of knowledge. 

"It's not realistic to expect all hospitals to have the technique to diagnose all these diseases." 

But she added that if doctors are more aware of the possible links between the symptoms and rare diseases, they can transfer the patients to hospitals in large cities which are capable of doing such diagnosis.

About 80 percent of the diseases are genetic, and it is necessary to locate people with gene defects and do medical tests if they want to have children, she said. 

Patients hope that their financial burdens will be relieved by public health insurance.

Zhao Ning, 34, has a daughter who suffers from phenylketonuria - a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. "My hope is that the government will help take care of such children for their life, or at least till they turn 18 and can make a living on their own," Zhao said. "I've seen many people with PKU children give up the treatment because they can't shoulder the financial burden."

Children with this genetic disease, which affected only 0.72 of every 10,000 newborn babies in 2011, can eat only specially processed food because the accumulation of an amino acid in natural protein will impair their intelligence if they keep consuming ordinary food.