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According to Han Jinxiang, President of the Shandong Provincial Academy of Medical Sciences and a rare disease expert, 30 percent of rare disease patients received correct diagnoses only after seeing between five and 10 doctors, 40 percent of patients were either misdiagnosed or treated for a different disease for a long time, and 75 percent of rare disease sufferers don't have a proper and systematic long-term treatment plan.
Han's academy has set up a website, www.uumom.com, which is devoted to building a platform for patients, medical professionals and volunteers to exchange information on rare diseases. Patients can also upload their medical records to build a database for academic research into rare diseases and possible cures.
Chen Jingyu, a lung transplant expert at the Renmin Hospital in Wuxi City, east China's Jiangsu Province, called patients of rare diseases "the disadvantaged among the disadvantaged groups."
"Misdiagnosis, lack of effective drugs and extremely expensive treatment that is not covered by medical insurance are common setbacks affecting almost every rare disease patient," he said.
Li Dingguo, head of the Department of Medicine at the Xinhua Hospital in Shanghai, has called on the government to pay more attention to patients with rare diseases. "Some government departments said that they don't have enough medical resources for patients with common diseases, let alone patients with rare diseases," he said.
Li has been advocating the establishment of a national academy on rare diseases.
"Since the population affected by rare diseases is relatively small and patients often live far away from each other, a lot of coordination efforts are needed in order to collect accurate statistics," said Li, who is director of a rare disease sub-committee under the Shanghai Medical Association. Founded in November 2010, the sub-committee is one of China's first medical societies dedicated to rare diseases.
Li said that the drugs inventory of China's basic medical insurance should be expanded to cover medicines treating rare diseases. Ultimately, he suggests, the government should pay the majority of the treatment expenses while individuals and social organizations shoulder the remaining costs.
In Shanghai, where medical research into rare diseases is relatively advanced in China, patients suffering from 12 rare diseases can turn to basic medical insurance and special assistance funds to cover part of their medical bills. In 2012, the funding limit by basic medical insurance was raised from 100,000 yuan ($15,782) per person per year to 200,000 yuan ($31,564). The Shanghai-based newspaper Wenhui Bao reported that the treatment expenses for rare disease patients average about 2 million yuan ($315,640) per person per year.
Even patients who are able to pay these hefty bills still struggle to purchase and receive drugs in time.
Li said that domestic pharmaceutical companies have no interest in developing or producing medicines for rare diseases because the market is considered too small to make money. Nearly all patients of rare diseases in China need to rely on imported drugs. However, the registration and paperwork needed to import new drugs is usually time-consuming, complicated and expensive. Li has called for the establishment of channels opened for importing drugs for rare diseases,
Sun Zhaoqi is a physics professor at Anhui University and a deputy to the National People's Congress (NPC), China's top legislature. At the NPC's annual sessions, he had been filing the same motion on drafting a law on rare diseases for the past five years. His proposal was finally put on the NPC's legislative agenda last year.
"The key is to establish a medical guarantee system for rare disease patients in China," Sun said. As a first step, he suggests that the government should learn from the experiences of other countries to set up a national rare disease medical assistance fund to alleviate patients' financial burdens.
So far, the only support for rare disease patients comes from their own communities. Patients of hemophilia, mucopolysaccharidosis, osteogenesis imperfecta and ataxia in China have established their own organizations.
Lin and other LAM patients in the association she founded regularly provide encouragement to each other during online chats. Lin said these online discussion groups are a platform for sharing advice and confronting common problems. The majority of LAM patients are female, and choose not to get pregnant as a result of the strong side effects of the drugs they take. The existence of a support group helps fill the void left by the lack of motherhood and children in their lives.
"Our courage to fight the disease is mainly from the care of fellow patients. We would definitely see a brighter future if more effective treatment can be developed, our drugs can be covered by medical insurance and ordinary people show us more care and support," she said.
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