Pushing for change

Li Dingguo, director of the rare disease branch of the Shanghai Medical Association, has been pushing for the definition and treatment of rare diseases to be included in legislation, and for the cost of treatment to be covered by medical insurance.

"Many treatments for rare diseases are not included in the national medical insurance, and some treatments can cost as much as 200,000 yuan a month," he said.

There have been successful cases, Huang explained. In 2011, the Shanghai government approved a proposal to cover the treatment cost in the children's medical cooperation fund, providing up to 100,000 yuan per year for children with four rare diseases, including Gaucher's disease. The limit was raised to 200,000 yuan in 2012.

The government of Qingdao, Shandong Province, also approved a proposal in 2012 that covers the treatment cost of all diseases including rare diseases for up to 400,000 yuan in the national medical insurance.

Hemophilia is a disease covered widely by national medical insurance to different degrees across China. Liu Xiaoguang, the director of the rehabilitation association of hemophilia, told Caixin that since 2005, hemophilia patients have been demanding the inclusion of the disease in national medical insurance.

Li suggests first starting with certain diseases in fixed cities, such as Beijing or Shanghai.

"There are about 6,000 rare diseases, but only about 60 are treatable, which means that if the patients take lifelong doses of medicine, they can be almost the same as normal people," Li said. "We are pushing to get these diseases covered."

Moreover, only when rare diseases and treatments are clearly defined can medical aid proposals be approved. Right now, Li and his colleagues are working on providing a clear definition in the medical community so that there can be direct policy generated, he said.

"Many people with rare diseases are dying every day. This cannot wait," he said. "They cannot afford to wait."

Han Qi's only wish is to be able to raise enough money to support Han Shuo for a year, or even just for a couple months.

"I want to get her treatment for a couple months and at least reduce the size of her spleen to normal," he said. "Even if I can't afford to pay for her drugs for life, at least this will add a transitional period."