Treatment dilemma

Han Qi first realized something was wrong with his daughter in 2009. Han Shuo's uncle was playing with her and felt a hard lump under her rib, where her spleen was.

Worried, Han Qi took her to a local hospital in Ji'nan, Shandong Province, and later in Beijing. The results shocked him.

"The examination report said she had Gaucher's disease. We had no idea what that was, but the doctor told me it was really bad. It's an extremely rare disease," he said. "There's no good cure for it."

There's no clear definition of what a rare disease is or how many rare disease patients there are in China right now, said Han Jinxiang, Party secretary of the Shandong Academy of Medical Sciences. However, research is being done to expand the amount of scientific and official data.

On February 28, 2013, 17 medical institutions from 13 provinces launched the China Rare diseases Prevention and Treatment Alliance, China's first national organization against rare diseases.

Han Jinxiang, who is also the deputy director of the alliance, said the organization will assist in data collection of rare diseases, carry out epidemiological studies and improve treatment. One current project is conducting research into how many types of diseases can be considered rare, he said.

There are more than 6,000 rare diseases defined internationally, but treatment and medicine exists for only about 1 percent of them. Of these treatable diseases, China has almost no domestically produced medicine, Han said.

"There are few rare disease patients in China and the government doesn't have any policy subsidizing the production of rare disease medicine, so the pharmaceutical companies don't have any interest in producing such drugs," Huang Rufang, president of the grass-roots Chinese Organization for Rare Disorders, said.

Because of their specialist nature, some countries have a "green channel" for the examination and approval of those drugs. In the US, the Food and Drug Administration has an Office of Orphan Products Development, whose mission is to "advance the evaluation and development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions." The office also provides incentives for sponsors to develop products for rare diseases.

However, the lack of such a mechanism in China directly results in these drugs being imported from abroad and means they usually aren't covered in national medical insurance. There is no way families like Han's can afford it.